text
stringlengths 297
230k
| title
stringlengths 4
145
| cui
stringlengths 4
10
| idx
int64 0
30.7k
| source
stringclasses 6
values | source_url
stringlengths 33
155
| retrieved_date
timestamp[s] | classification_map
stringlengths 2
1.45k
|
|---|---|---|---|---|---|---|---|
A number sign (#) is used with this entry because of evidence that combined oxidative phosphorylation deficiency-31 (COXPD31) is caused by homozygous or compound heterozygous mutation in the MIPEP gene (602241) on chromosome 13q12.
Description
Combined oxidative phosphorylation deficiency-31 is an autosomal recessive multisystem disorder characterized by left ventricular noncompaction (LVNC), global developmental delay, and severe hypotonia. More variable features include seizures, cataract, and abnormal movements. The disorder becomes apparent soon after birth or in early infancy, and patients may die in early childhood. Biochemical studies are consistent with a defect in mitochondrial function (summary by Eldomery et al., 2016).
For a discussion of genetic heterogeneity of combined oxidative phosphorylation deficiency, see COXPD1 (609060).
Clinical Features
Eldomery et al. (2016) reported 4 unrelated children with a severe multisystem disorder apparent from infancy. The patients had failure to thrive, hypotonia, LVNC, hypertrophic cardiomyopathy, and global developmental delay. Three patients died in the first weeks or years of life; the fourth was alive at age 4.5 years. Three patients had infantile seizures. The 4.5-year-old boy developed hypertonia with abnormal movements, dystonic posturing, and gastrointestinal difficulties, but he did not have overt seizures and EEG was normal. More variable features included microcephaly and cataract. Patient 1 was initially suspected of having a mitochondrial disorder. Laboratory studies in all patients showed variably increased serum lactate, lactic acidosis, and increased alanine. Skeletal muscle biopsies, performed in 3 patients, showed glycogen deposits and accumulation of lipid droplets; 2 patients had evidence of mitochondrial proliferation and aggregation and abnormal mitochondria. Mitochondrial electron transport chain analysis in skeletal muscle, performed in 3 patients, showed mildly decreased activities of complexes I+III and complex IV. Postmortem examination of 2 patients showed LVNC with dilated cardiomyopathy; the brain of 1 patient showed diffuse neuronal loss with parenchymal rarefaction and gliosis. Variable dysmorphic features were noted in 2 unrelated children: 1 had a wide mouth and bulbous nasal tip, whereas the other had deep-set eyes, anteverted nares, depressed nasal bridge, midface hypoplasia, severe micrognathia, facial asymmetry, and an accessory palmar crease on the right hand. Two probands had a similarly affected deceased sib.
Inheritance
The transmission pattern of COXPD31 in the families reported by Eldomery et al. (2016) was consistent with autosomal recessive inheritance.
Molecular Genetics
In 4 unrelated children with COXPD31, Eldomery et al. (2016) identified homozygous or compound heterozygous mutations in the MIPEP gene (602241.0001-602241.0006). The mutations were found by whole-exome sequencing and segregated with the disorder in the families for whom parental DNA was available. There were 5 missense mutations, 1 nonsense mutation, and 1 large deletion encompassing the MIPEP gene. In vitro functional expression assays using the yeast homolog Oct1 demonstrated that the missense mutations had deleterious effects. The yeast mutations L339F (human L306F; 602241.0003) and K376E (human K343E; 602241.0005) resulted in a severe decrease of Oct1 protease activity with accumulation of nonprocessed Oct1 substrates, resulting in impaired viability under respiratory growth conditions. The L83Q (human L71Q; 602241.0002) mutant failed to localize to the mitochondria and fully abolished Oct1 processing. The findings were consistent with a loss of function.
INHERITANCE \- Autosomal recessive GROWTH Other \- Failure to thrive HEAD & NECK Head \- Microcephaly (in some patients) Face \- Dysmorphic features, variable (in some patients) Eyes \- Cataract (in some patients) CARDIOVASCULAR Heart \- Hypertrophic cardiomyopathy \- Left ventricular noncompaction ABDOMEN Gastrointestinal \- Feeding problems MUSCLE, SOFT TISSUES \- Hypotonia \- Accumulation of glycogen seen on muscle biopsy \- Lipid droplet accumulation \- Mitochondrial proliferation \- Abnormal mitochondria \- Variable decreases in mitochondrial respiratory complex activities, especially I+III and IV NEUROLOGIC Central Nervous System \- Global developmental delay \- Seizures (in most patients) \- Hypertonia \- Dystonic posturing METABOLIC FEATURES \- Lactic acidosis LABORATORY ABNORMALITIES \- Increased serum lactate \- Increased serum alanine MISCELLANEOUS \- Onset in infancy \- Death may occur in first weeks to years of life \- Four unrelated families have been reported (last curated November 2016) MOLECULAR BASIS \- Caused by mutation in the mitochondrial intermediate peptidase gene (MIPEP, 602241.0001 ) ▲ Close
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: Dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: Luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone-binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
*[FSH]: Follicle-stimulating hormone
*[HHAT]: hedgehog acyltransferase
*[Hh]: Hedgehog
*[ABS]: amniotic band syndrome
| COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 31 | c4310661 | 30,200 | omim | https://www.omim.org/entry/617228 | 2019-09-22T15:46:25 | {"omim": ["617228"], "orphanet": ["478049"], "synonyms": []} |
Pseudohypoaldosteronism
In pseudohypoaldosteronism, aldosterone is elevated (hyperaldosteronism), but because the body fails to respond to it, it appears similar to hypoaldosteronism.
SpecialtyNephrology
Pseudohypoaldosteronism (PHA) is a condition that mimics hypoaldosteronism.[1] However, the condition is due to a failure of response to aldosterone, and levels of aldosterone are actually elevated, due to a lack of feedback inhibition.
## Contents
* 1 Types
* 2 Presentation
* 3 Mechanism
* 4 Treatment
* 5 History
* 6 See also
* 7 References
* 8 External links
## Types[edit]
Type OMIM Gene Inheritance Description
PHA1A 177735 MLR Autosomal dominant with sodium wasting
PHA1B 264350 SCNN1A, SCNN1B, SCNN1G of the epithelial sodium channel Autosomal recessive with sodium wasting
PHA2 145260 WNK4, WNK1 without sodium wasting. TRPV6 may be involved.[2]
## Presentation[edit]
PHA2 is clinically characterised by hypertension, hyperkalaemia, metabolic acidosis and normal renal function.[3]
## Mechanism[edit]
PHA2 is also known as familial hyperkalaemic hypertension, or Gordon syndrome. The underlying genetic defect leads to increased sodium chloride reabsorption in the distal tubule in the kidney, leading to volume expansion, hypertension and lowered renin levels. The hyperkalemia found in PHA2 is proposed to be a function of diminished sodium delivery to the cortical collecting tubule (potassium excretion is mediated by the renal outer medullary potassium channel ROMK in which sodium reabsorption plays a role). Alternatively, WNK4 mutations that result in a gain of function of the Na-Cl co-transporter may inhibit ROMK activity resulting in hyperkalemia.[4] Unlike in PHA1 in which aldosterone resistance is present, in PHA2 the volume expansion leads to relatively low aldosterone levels.[3]
## Treatment[edit]
Treatment of severe forms of PHA1 requires relatively large amounts of sodium chloride.[5] These conditions also involve hyperkalemia.[6]
In contrast, PHA2 (Gordon's syndrome) requires salt restriction and use of thiazide diuretics to block sodium chloride reabsorption and normalise blood pressure and serum potassium.[citation needed]
## History[edit]
This syndrome was first described by Cheek and Perry in 1958.[7] Later pediatric endocrinologist Aaron Hanukoglu reported that there are two independent forms of PHA with different inheritance patterns: A renal form with autosomal dominant inheritance exhibiting salt loss mainly from the kidneys, and a multi-system form with autosomal recessive form exhibiting salt loss from kidney, lung, and sweat and salivary glands.[8][9]
The hereditary lack of responsiveness to aldosterone could be due to at least two possibilities: 1. A mutation in the mineralocorticoid receptor that binds aldosterone, or 2. A mutation in a gene that is regulated by aldosterone. Linkage analysis on patients suffering from the severe form of PHA excluded the possibility of linkage of the disease with the mineralocorticoid receptor gene region.[10] Later, the severe form of PHA was discovered to be due to mutations in the genes SCNN1A, SCNN1B, and SCNN1G that code for the epithelial sodium channel subunits, α, β, and γ, respectively.[11]
A stop mutation in the SCNN1A gene has been shown to be associated with female infertility.[12]
## See also[edit]
* Hyperchloremic acidosis
* Pseudohyperaldosteronism
## References[edit]
1. ^ "Pseudohypoaldosteronism: Overview - eMedicine Pediatrics: General Medicine". Retrieved 2009-03-06.
2. ^ Yang SS, Hsu YJ, Chiga M, Rai T, Sasaki S, Uchida S, Lin SH (Apr 2010). "Mechanisms for hypercalciuria in pseudohypoaldosteronism type II-causing WNK4 knock-in mice". Endocrinology. 151 (4): 1829–36. doi:10.1210/en.2009-0951. PMID 20181799.
3. ^ a b O'Shaughnessy, Kevin M. (November 2015). "Gordon Syndrome: a continuing story". Pediatric Nephrology (Berlin, Germany). 30 (11): 1903–1908. doi:10.1007/s00467-014-2956-7. ISSN 1432-198X. PMID 25503323. S2CID 195676310.
4. ^ Garovic, Vesna D. (2006). "Monogenic Forms of Low-Renin Hypertension". Nature Clinical Practice. Nephrology. Nature Clinical Practice Nephrology. 2 (11): 624–30. doi:10.1038/ncpneph0309. PMID 17066054. S2CID 27864633. Retrieved 18 October 2019.
5. ^ Hanukoglu A, Hanukoglu I (2010). "Clinical improvement in patients with autosomal recessive pseudohypoaldosteronism and the necessity for salt supplementation". Clinical and Experimental Nephrology. 14 (5): 518–519. doi:10.1007/s10157-010-0326-8. PMID 20661616. S2CID 9764720.
6. ^ Pseudohypoaldosteronism at the US National Library of Medicine Medical Subject Headings (MeSH)
7. ^ CHEEK DB, PERRY JW (1958). "A salt wasting syndrome in infancy". Arch Dis Child. 33 (169): 252–6. doi:10.1136/adc.33.169.252. PMC 2012226. PMID 13545877.
8. ^ Hanukoglu A (Nov 1991). "Type I pseudohypoaldosteronism includes two clinically and genetically distinct entities with either renal or multiple target organ defects". The Journal of Clinical Endocrinology and Metabolism. 73 (5): 936–44. doi:10.1210/jcem-73-5-936. PMID 1939532.
9. ^ Hanukoglu I, Hanukoglu A (Jan 2016). "Epithelial sodium channel (ENaC) family: Phylogeny, structure-function, tissue distribution, and associated inherited diseases". Gene. 579 (2): 95–132. doi:10.1016/j.gene.2015.12.061. PMC 4756657. PMID 26772908.
10. ^ Chung E, Hanukoglu A, Rees M, Thompson R, Dillon M, Hanukoglu I, et al. (1995). "Exclusion of the locus for autosomal recessive pseudohypoaldosteronism type 1 from the mineralocorticoid receptor gene region on human chromosome 4q by linkage analysis". J Clin Endocrinol Metab. 80 (11): 3341–5. doi:10.1210/jcem.80.11.7593448. PMID 7593448.
11. ^ Chang SS, Grunder S, Hanukoglu A, Rösler A, Mathew PM, Hanukoglu I, et al. (1996). "Mutations in subunits of the epithelial sodium channel cause salt wasting with hyperkalaemic acidosis, pseudohypoaldosteronism type 1". Nat Genet. 12 (3): 248–53. doi:10.1038/ng0396-248. PMID 8589714. S2CID 8185511.
12. ^ Boggula VR, Hanukoglu I, Sagiv R, Enuka Y, Hanukoglu A (October 2018). "Expression of the epithelial sodium channel (ENaC) in the endometrium - Implications for fertility in a patient with pseudohypoaldosteronism". The Journal of Steroid Biochemistry and Molecular Biology. 183: 137–141. doi:10.1016/j.jsbmb.2018.06.007. PMID 29885352. S2CID 47010706.
## External links[edit]
* GeneReviews/NCBI/NIH/UW entry on Pseudohypoaldosteronism Type II
Classification
D
* ICD-10: N25.8
* OMIM: 177735 614495 614491 614496 614492 145260 264350 177735 614495 614491 614496 614492 145260
* MeSH: D011546
External resources
* eMedicine: article/924100
* Orphanet: 444916
* v
* t
* e
Adrenal gland disorder
Hyperfunction
Aldosterone
* Hyperaldosteronism
* Primary aldosteronism
* Conn syndrome
* Bartter syndrome
* Glucocorticoid remediable aldosteronism
* AME
* Liddle's syndrome
* 17α CAH
* Pseudohypoaldosteronism
Cortisol
* Cushing's syndrome
* Pseudo-Cushing's syndrome
* Steroid-induced osteoporosis
Sex hormones
* 21α CAH
* 11β CAH
Hypofunction
Aldosterone
* Hypoaldosteronism
* 21α CAH
* 11β CAH
Cortisol
* CAH
* Lipoid
* 3β
* 11β
* 17α
* 21α
Sex hormones
* 17α CAH
* Inborn errors of steroid metabolism
Adrenal insufficiency
* Adrenal crisis
* Adrenalitis
* Xanthogranulomatous
* Addison's disease
* Waterhouse–Friderichsen syndrome
* v
* t
* e
Kidney disease
Glomerular disease
* See Template:Glomerular disease
Tubules
* Renal tubular acidosis
* proximal
* distal
* Acute tubular necrosis
* Genetic
* Fanconi syndrome
* Bartter syndrome
* Gitelman syndrome
* Liddle's syndrome
Interstitium
* Interstitial nephritis
* Pyelonephritis
* Balkan endemic nephropathy
Vascular
* Renal artery stenosis
* Renal ischemia
* Hypertensive nephropathy
* Renovascular hypertension
* Renal cortical necrosis
General syndromes
* Nephritis
* Nephrosis
* Renal failure
* Acute renal failure
* Chronic kidney disease
* Uremia
Other
* Analgesic nephropathy
* Renal osteodystrophy
* Nephroptosis
* Abderhalden–Kaufmann–Lignac syndrome
* Diabetes insipidus
* Nephrogenic
* Renal papilla
* Renal papillary necrosis
* Major calyx/pelvis
* Hydronephrosis
* Pyonephrosis
* Reflux nephropathy
* v
* t
* e
Genetic disorders relating to deficiencies of transcription factor or coregulators
(1) Basic domains
1.2
* Feingold syndrome
* Saethre–Chotzen syndrome
1.3
* Tietz syndrome
(2) Zinc finger
DNA-binding domains
2.1
* (Intracellular receptor): Thyroid hormone resistance
* Androgen insensitivity syndrome
* PAIS
* MAIS
* CAIS
* Kennedy's disease
* PHA1AD pseudohypoaldosteronism
* Estrogen insensitivity syndrome
* X-linked adrenal hypoplasia congenita
* MODY 1
* Familial partial lipodystrophy 3
* SF1 XY gonadal dysgenesis
2.2
* Barakat syndrome
* Tricho–rhino–phalangeal syndrome
2.3
* Greig cephalopolysyndactyly syndrome/Pallister–Hall syndrome
* Denys–Drash syndrome
* Duane-radial ray syndrome
* MODY 7
* MRX 89
* Townes–Brocks syndrome
* Acrocallosal syndrome
* Myotonic dystrophy 2
2.5
* Autoimmune polyendocrine syndrome type 1
(3) Helix-turn-helix domains
3.1
* ARX
* Ohtahara syndrome
* Lissencephaly X2
* MNX1
* Currarino syndrome
* HOXD13
* SPD1 synpolydactyly
* PDX1
* MODY 4
* LMX1B
* Nail–patella syndrome
* MSX1
* Tooth and nail syndrome
* OFC5
* PITX2
* Axenfeld syndrome 1
* POU4F3
* DFNA15
* POU3F4
* DFNX2
* ZEB1
* Posterior polymorphous corneal dystrophy
* Fuchs' dystrophy 3
* ZEB2
* Mowat–Wilson syndrome
3.2
* PAX2
* Papillorenal syndrome
* PAX3
* Waardenburg syndrome 1&3
* PAX4
* MODY 9
* PAX6
* Gillespie syndrome
* Coloboma of optic nerve
* PAX8
* Congenital hypothyroidism 2
* PAX9
* STHAG3
3.3
* FOXC1
* Axenfeld syndrome 3
* Iridogoniodysgenesis, dominant type
* FOXC2
* Lymphedema–distichiasis syndrome
* FOXE1
* Bamforth–Lazarus syndrome
* FOXE3
* Anterior segment mesenchymal dysgenesis
* FOXF1
* ACD/MPV
* FOXI1
* Enlarged vestibular aqueduct
* FOXL2
* Premature ovarian failure 3
* FOXP3
* IPEX
3.5
* IRF6
* Van der Woude syndrome
* Popliteal pterygium syndrome
(4) β-Scaffold factors
with minor groove contacts
4.2
* Hyperimmunoglobulin E syndrome
4.3
* Holt–Oram syndrome
* Li–Fraumeni syndrome
* Ulnar–mammary syndrome
4.7
* Campomelic dysplasia
* MODY 3
* MODY 5
* SF1
* SRY XY gonadal dysgenesis
* Premature ovarian failure 7
* SOX10
* Waardenburg syndrome 4c
* Yemenite deaf-blind hypopigmentation syndrome
4.11
* Cleidocranial dysostosis
(0) Other transcription factors
0.6
* Kabuki syndrome
Ungrouped
* TCF4
* Pitt–Hopkins syndrome
* ZFP57
* TNDM1
* TP63
* Rapp–Hodgkin syndrome/Hay–Wells syndrome/Ectrodactyly–ectodermal dysplasia–cleft syndrome 3/Limb–mammary syndrome/OFC8
Transcription coregulators
Coactivator:
* CREBBP
* Rubinstein–Taybi syndrome
Corepressor:
* HR (Atrichia with papular lesions)
* v
* t
* e
Diseases of ion channels
Calcium channel
Voltage-gated
* CACNA1A
* Familial hemiplegic migraine 1
* Episodic ataxia 2
* Spinocerebellar ataxia type-6
* CACNA1C
* Timothy syndrome
* Brugada syndrome 3
* Long QT syndrome 8
* CACNA1F
* Ocular albinism 2
* CSNB2A
* CACNA1S
* Hypokalemic periodic paralysis 1
* Thyrotoxic periodic paralysis 1
* CACNB2
* Brugada syndrome 4
Ligand gated
* RYR1
* Malignant hyperthermia
* Central core disease
* RYR2
* CPVT1
* ARVD2
Sodium channel
Voltage-gated
* SCN1A
* Familial hemiplegic migraine 3
* GEFS+ 2
* Febrile seizure 3A
* SCN1B
* Brugada syndrome 6
* GEFS+ 1
* SCN4A
* Hypokalemic periodic paralysis 2
* Hyperkalemic periodic paralysis
* Paramyotonia congenita
* Potassium-aggravated myotonia
* SCN4B
* Long QT syndrome 10
* SCN5A
* Brugada syndrome 1
* Long QT syndrome 3
* SCN9A
* Erythromelalgia
* Febrile seizure 3B
* Paroxysmal extreme pain disorder
* Congenital insensitivity to pain
Constitutively active
* SCNN1B/SCNN1G
* Liddle's syndrome
* SCNN1A/SCNN1B/SCNN1G
* Pseudohypoaldosteronism 1AR
Potassium channel
Voltage-gated
* KCNA1
* Episodic ataxia 1
* KCNA5
* Familial atrial fibrillation 7
* KCNC3
* Spinocerebellar ataxia type-13
* KCNE1
* Jervell and Lange-Nielsen syndrome
* Long QT syndrome 5
* KCNE2
* Long QT syndrome 6
* KCNE3
* Brugada syndrome 5
* KCNH2
* Short QT syndrome
* KCNQ1
* Jervell and Lange-Nielsen syndrome
* Romano–Ward syndrome
* Short QT syndrome
* Long QT syndrome 1
* Familial atrial fibrillation 3
* KCNQ2
* BFNS1
Inward-rectifier
* KCNJ1
* Bartter syndrome 2
* KCNJ2
* Andersen–Tawil syndrome
* Long QT syndrome 7
* Short QT syndrome
* KCNJ11
* TNDM3
* KCNJ18
* Thyrotoxic periodic paralysis 2
Chloride channel
* CFTR
* Cystic fibrosis
* Congenital absence of the vas deferens
* CLCN1
* Thomsen disease
* Myotonia congenita
* CLCN5
* Dent's disease
* CLCN7
* Osteopetrosis A2, B4
* BEST1
* Vitelliform macular dystrophy
* CLCNKB
* Bartter syndrome 3
TRP channel
* TRPC6
* FSGS2
* TRPML1
* Mucolipidosis type IV
Connexin
* GJA1
* Oculodentodigital dysplasia
* Hallermann–Streiff syndrome
* Hypoplastic left heart syndrome
* GJB1
* Charcot–Marie–Tooth disease X1
* GJB2
* Keratitis–ichthyosis–deafness syndrome
* Ichthyosis hystrix
* Bart–Pumphrey syndrome
* Vohwinkel syndrome)
* GJB3/GJB4
* Erythrokeratodermia variabilis
* Progressive symmetric erythrokeratodermia
* GJB6
* Clouston's hidrotic ectodermal dysplasia
Porin
* AQP2
* Nephrogenic diabetes insipidus 2
See also: ion channels
* v
* t
* e
Deficiencies of intracellular signaling peptides and proteins
GTP-binding protein regulators
GTPase-activating protein
* Neurofibromatosis type I
* Watson syndrome
* Tuberous sclerosis
Guanine nucleotide exchange factor
* Marinesco–Sjögren syndrome
* Aarskog–Scott syndrome
* Juvenile primary lateral sclerosis
* X-Linked mental retardation 1
G protein
Heterotrimeic
* cAMP/GNAS1: Pseudopseudohypoparathyroidism
* Progressive osseous heteroplasia
* Pseudohypoparathyroidism
* Albright's hereditary osteodystrophy
* McCune–Albright syndrome
* CGL 2
Monomeric
* RAS: HRAS
* Costello syndrome
* KRAS
* Noonan syndrome 3
* KRAS Cardiofaciocutaneous syndrome
* RAB: RAB7
* Charcot–Marie–Tooth disease
* RAB23
* Carpenter syndrome
* RAB27
* Griscelli syndrome type 2
* RHO: RAC2
* Neutrophil immunodeficiency syndrome
* ARF: SAR1B
* Chylomicron retention disease
* ARL13B
* Joubert syndrome 8
* ARL6
* Bardet–Biedl syndrome 3
MAP kinase
* Cardiofaciocutaneous syndrome
Other kinase/phosphatase
Tyrosine kinase
* BTK
* X-linked agammaglobulinemia
* ZAP70
* ZAP70 deficiency
Serine/threonine kinase
* RPS6KA3
* Coffin-Lowry syndrome
* CHEK2
* Li-Fraumeni syndrome 2
* IKBKG
* Incontinentia pigmenti
* STK11
* Peutz–Jeghers syndrome
* DMPK
* Myotonic dystrophy 1
* ATR
* Seckel syndrome 1
* GRK1
* Oguchi disease 2
* WNK4/WNK1
* Pseudohypoaldosteronism 2
Tyrosine phosphatase
* PTEN
* Bannayan–Riley–Ruvalcaba syndrome
* Lhermitte–Duclos disease
* Cowden syndrome
* Proteus-like syndrome
* MTM1
* X-linked myotubular myopathy
* PTPN11
* Noonan syndrome 1
* LEOPARD syndrome
* Metachondromatosis
Signal transducing adaptor proteins
* EDARADD
* EDARADD Hypohidrotic ectodermal dysplasia
* SH3BP2
* Cherubism
* LDB3
* Zaspopathy
Other
* NF2
* Neurofibromatosis type II
* NOTCH3
* CADASIL
* PRKAR1A
* Carney complex
* PRKAG2
* Wolff–Parkinson–White syndrome
* PRKCSH
* PRKCSH Polycystic liver disease
* XIAP
* XIAP2
See also intracellular signaling peptides and proteins
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: Dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: Luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone-binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
*[FSH]: Follicle-stimulating hormone
*[HHAT]: hedgehog acyltransferase
*[Hh]: Hedgehog
*[ABS]: amniotic band syndrome
| Pseudohypoaldosteronism | c0033805 | 30,201 | wikipedia | https://en.wikipedia.org/wiki/Pseudohypoaldosteronism | 2021-01-18T18:45:46 | {"gard": ["4671"], "mesh": ["D011546"], "umls": ["CL495850", "C0033805"], "icd-10": ["N25.8"], "orphanet": ["444916"], "wikidata": ["Q200745"]} |
Woods et al. (1995) reported the case of an infant with pre- and postnatal microcephaly and growth retardation, a distinctive face, and developmental delay. Seckel syndrome was the initial diagnosis. The infant became pancytopenic at 16 months of age and died soon thereafter. His bone marrow was of normal cellularity but had an infiltration of small lymphocytes. Increased spontaneous chromosome breakage was seen in blood and fibroblasts. Mitomycin C-induced chromosome damage was increased and comparable to that seen in Fanconi anemia. Woods et al. (1995) proposed that this infant suffered from a distinct chromosome breakage syndrome. They found at least 7 reported cases of Seckel-like intrauterine growth retardation with pancytopenia, including 2 sibs in Seckel's original publication (Seckel, 1960). Other cases were reported by Upjohn (1955) and Butler et al. (1987). Because Seckel syndrome is likely to be heterogeneous, Woods et al. (1995) preferred to refer to the disorder they reported as 'severe intrauterine growth retardation with increased mitomycin C sensitivity.'
Head \- Microcephaly Neuro \- Developmental delay Facies \- Distinctive facies Inheritance \- Autosomal recessive Lab \- Normal cellular bone marrow infiltrated with small lymphocytes \- Increased spontaneous chromosome breakage in blood and fibroblasts \- Increased mitomycin C-induced chromosome damage Heme \- Pancytopenia Growth \- Pre- and postnatal growth retardation ▲ Close
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: Dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: Luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone-binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
*[FSH]: Follicle-stimulating hormone
*[HHAT]: hedgehog acyltransferase
*[Hh]: Hedgehog
*[ABS]: amniotic band syndrome
| INTRAUTERINE GROWTH RETARDATION WITH INCREASED MITOMYCIN C SENSITIVITY | c0265202 | 30,202 | omim | https://www.omim.org/entry/600546 | 2019-09-22T16:16:03 | {"omim": ["600546"], "orphanet": ["808"]} |
A number sign (#) is used with this entry because juvenile-onset Parkinson disease-19A (PARK19A) and early-onset Parkinson disease-19B (PARK19B) are caused by homozygous mutation in the DNAJC6 gene (608375) on chromosome 1p31.
Description
Parkinson disease-19A is an autosomal recessive neurodegenerative disorder characterized by onset of parkinsonism in the first or second decade. Some patients may have additional neurologic features, including mental retardation and seizures (summary by Edvardson et al., 2012 and Koroglu et al., 2013).
Parkinson disease-19B is an autosomal recessive neurodegenerative disorder with onset of parkinsonism between the third and fifth decades. It is slowly progressive, shows features similar to classic late-onset Parkinson disease (PD), and has a beneficial response to dopaminergic therapy (Olgiati et al., 2016).
For a phenotypic description and a discussion of genetic heterogeneity of Parkinson disease, see PD (168600).
Clinical Features
### Parkinson Disease 19A
Edvardson et al. (2012) reported 2 brothers, born of Arab-Muslim parents of Palestinian origin, with juvenile-onset Parkinson disease. Both had normal early psychomotor development, but showed motor symptoms consistent with Parkinson disease at ages 11 and 7, respectively. Features included bradykinesia, rigidity, postural instability, hypomimia, dysarthria, and asymmetric resting tremor. L-DOPA treatment was ineffective, and 1 patient became wheelchair-bound at age 13. The second patient had a more insidious disease course, and was dependent with an inability to walk by age 18. One patient had hypometric saccades. Brain MRI in both patients was unremarkable. Cognition was intact.
Koroglu et al. (2013) reported 4 patients from a large consanguineous Turkish family with juvenile-onset, rapidly progressive parkinsonism and mild to moderate mental retardation. The patients had onset of tremor and bradykinesia at 10 to 11 years of age. Other features included postural instability, rigidity, intermittent dystonic symptoms, hypomimia, and pyramidal signs. Three patients had absence and generalized seizures that started at ages 1 to 5 years and were well controlled. Response to L-DOPA was good, but limited by severe side effects. Later features included dysarthria, anarthria, and akinesia. All were wheelchair-bound or bedridden 10 to 15 years after onset. Brain MRI was unremarkable except in 1 patient who had diffuse brain atrophy.
Elsayed et al. (2016) reported a girl, born of consanguineous parents of Yemeni origin, who had onset of PD at age 10.5 years. Her disease started with visual hallucinations followed by slowed movement and rapidly progressive cognitive deterioration. She had severe rigidity, bradykinesia, and postural instability, but no resting tremor. Additional features included pyramidal signs, spasticity, and hyperreflexia. Over the following year, she developed seizures and additional features of psychosis, rendering her almost akinetic 2 years after disease onset. EEG suggested a diffuse encephalopathy with focal epilepsy; brain MRI was normal. Treatment with levodopa resulted in only a mild response.
### Parkinson Disease 19B
Olgiati et al. (2016) reported 2 sets of sibs from 2 unrelated Caucasian families with early-onset Parkinson disease between 21 and 42 years of age. One family (GPS-0313) was of Dutch descent and the other (PAL-50) was of Brazilian descent. The patients had typical features of PD, including bradykinesia, resting tremor, rigidity, postural instability, and good response to levodopa, although some developed levodopa-induced dyskinesias. Brain imaging in 1 family was normal, but PET imaging showed nigrostriatal abnormalities consistent with PD. A patient from the Brazilian family showed marked improvement after deep subthalamic brain stimulation.
Inheritance
The transmission pattern of PARK19A in the families reported by Edvardson et al. (2012) and Koroglu et al. (2013) was consistent with autosomal recessive inheritance.
The transmission pattern of PARK19B in the families reported by Olgiati et al. (2016) was consistent with autosomal recessive inheritance.
Molecular Genetics
### Parkinson Disease 19A
In 2 brothers, born of consanguineous Palestinian parents, with juvenile-onset Parkinson disease-19A, Edvardson et al. (2012) identified a homozygous loss-of-function mutation in the DNAJC6 gene (608375.0001). The mutation was found by homozygosity mapping combined with whole-exome sequencing. Because the DNAJC6 gene plays a role in clathrin-mediated endocytosis, the findings suggested that a defect in the neuronal endocytic/lysosomal pathway contributes to the pathogenesis of Parkinson disease.
Koroglu et al. (2013) identified a homozygous loss-of-function mutation in the DNAJC6 gene (608375.0002) in affected members of a consanguineous Turkish family with severe juvenile-onset Parkinson disease and mental retardation. The mutation was found by homozygosity mapping and whole-exome sequencing.
In a girl, born of consanguineous parents of Yemeni origin, with PARK19A, Elsayed et al. (2016) identified a homozygous nonsense mutation in the DNAJC6 gene (Q789X; 608375.0005). The mutation, which was found by targeted sequencing of a PD panel of genes and confirmed by Sanger sequencing, segregated with the disorder in the family. Functional studies of the variant and studies of patient cells were not performed, but the mutation was predicted to result in nonsense-mediated mRNA decay and a complete loss of protein function.
### Parkinson Disease 19B
In affected members of 2 unrelated families with PARK19B, Olgiati et al. (2016) identified homozygous mutations in the DNAJC6 gene: a missense mutation (R927G; 608375.0003) and a putative splice site mutation (c.2223A-T; 608375.0004). Patient fibroblasts from both families showed significantly decreased, but detectable, levels of DNAJC6 compared to controls, suggesting a loss-of-function effect. Olgiati et al. (2016) noted that the phenotype in these patients was not as severe as that observed in patients with truncating mutations, suggesting that some residual activity may mitigate the phenotype and consistent with a genotype/phenotype correlation. The families accounted for 2 (2.2%) of 92 probands with autosomal recessive PD who underwent sequencing of the DNAJC6 gene.
INHERITANCE \- Autosomal recessive HEAD & NECK Face \- Masked facies Eyes \- Hypometric saccades (in 1 patient with PARK19A) NEUROLOGIC Central Nervous System \- Parkinsonism \- Bradykinesia \- Rigidity \- Shuffling gait \- Postural instability \- Tremor \- Masked facies \- Dysarthria \- Spasticity (in 1 patient with PARK19A) \- Hallucinations (in 1 patient with PARK19A) \- Cognitive impairment (in 1 patient with PARK19A) \- Mental retardation (in 1 family with PARK19A) \- Seizures (in some patients with PARK19A) \- Dystonia (in 1 family with PARK19A) \- Pyramidal signs (in 1 family with PARK19A) MISCELLANEOUS \- Onset of parkinsonism in first decade (PARK19A) \- Rapidly progressive (PARK19A) \- Patients become wheelchair-bound about 10 years after onset (PARK19A) \- Onset in third to fifth decade (PARK19B) \- Slowly progressive (PARK19B) \- Good response to dopaminergic treatment (PARK19B) MOLECULAR BASIS \- Caused by mutation in the DNAJ heat shock protein family (Hsp40) member C6 gene (DNAJC6, 608375.0001 ) ▲ Close
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: Dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: Luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone-binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
*[FSH]: Follicle-stimulating hormone
*[HHAT]: hedgehog acyltransferase
*[Hh]: Hedgehog
*[ABS]: amniotic band syndrome
| PARKINSON DISEASE 19A, JUVENILE-ONSET | c4310802 | 30,203 | omim | https://www.omim.org/entry/615528 | 2019-09-22T15:51:49 | {"doid": ["0060891"], "omim": ["615528"], "orphanet": ["2828", "391411"], "synonyms": ["Early-onset Parkinson disease", "Alternative titles", "YOPD", "PARK19, FORMERLY"]} |
A very rare acrofacial dysostosis characterized by normal intelligence, shortness of stature, and mild acrofacial dysostosis (malar hypoplasia, micrognathia and webbing of digits with shortening of the fourth metacarpals) associated with oligodontia, normal or high arched palate, aplasia cutis verticis with pili torti, mild cutaneous syndactyly of digits 2-5, webbing of digits and shortening of the fourth metacarpals, and unilateral cleft lip. Features are similar to those seen in Zlotogora-Ogur syndrome, although the latter shows no sign of acrofacial dysostosis. There have been no further reports in the literature since 1997.
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: Dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: Luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone-binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
*[FSH]: Follicle-stimulating hormone
*[HHAT]: hedgehog acyltransferase
*[Hh]: Hedgehog
*[ABS]: amniotic band syndrome
| Acrofacial dysostosis, Palagonia type | c1866168 | 30,204 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=1787 | 2021-01-23T18:45:50 | {"gard": ["499"], "mesh": ["C538185"], "omim": ["601829"], "umls": ["C1866168"], "icd-10": ["Q75.4"]} |
Collins et al. (1995) described a woman with congenital dislocation of the hips, epicanthus, flat face, and slight joint laxity. Her growth was normal. Her 3 daughters were relatively short and had congenital dislocation of the hips, hyperextensibility of joints, and characteristic facial appearance (flat face with broad nasal bridge, wide-set eyes, and puffy appearance around the eyes). Two of the girls had congenital heart disease (atrial septal defect in one, and patent ductus arteriosus (see 607411) and patent foramen ovale in the other). One of the girls had congenital dislocation of the knee, and another had vesicoureteric reflux and inguinal hernia. Hyperextensibility of joints and inguinal hernia were observed in the girls' father. Clinical examination excluded Larsen syndrome (150250, 245600). Electron microscopic study of collagen excluded Ehlers-Danlos syndrome, type VII (130060, 225410). Collins et al. (1995) proposed that a previously undescribed autosomal dominant syndrome segregates in this family.
Eyes \- Epicanthus Growth \- Normal growth \- Relative short stature Facies \- Flat face \- Broad nasal bridge \- Wide-set eyes \- Puffy appearance around the eyes Inheritance \- Autosomal dominant Cardiac \- Congenital heart disease \- Atrial septal defect \- Patent ductus arteriosus \- Patent foramen ovale Joints \- Congenital hip dislocation \- Slight joint laxity \- Congenital knee dislocation \- Joint hyperextensibility GU \- Vesicoureteric reflux Abdomen \- Inguinal hernia ▲ Close
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: Dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: Luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone-binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
*[FSH]: Follicle-stimulating hormone
*[HHAT]: hedgehog acyltransferase
*[Hh]: Hedgehog
*[ABS]: amniotic band syndrome
| DISLOCATION OF HIP, CONGENITAL, WITH HYPEREXTENSIBILITY OF FINGERS AND FACIAL DYSMORPHISM | c1832353 | 30,205 | omim | https://www.omim.org/entry/601450 | 2019-09-22T16:14:43 | {"mesh": ["C563315"], "omim": ["601450"], "orphanet": ["2412"], "synonyms": ["Collins-Pope syndrome", "Alternative titles", "HIP, CONGENITAL DISLOCATION OF, WITH HYPEREXTENSIBILITY OF FINGERS AND FACIAL DYSMORPHISM"]} |
Sudden Wealth Syndrome (SWS)
SpecialtyAbnormal Psychology
SymptomsSocial isolation, paranoia, uncertainty, shock[1]
DurationDependent on situation[2]
CausesSudden lottery winnings, large inheritances, gambling winnings, trading cryptocurrencies (Bitcoin)[3]
Risk factorsDepression (mood), Anxiety Disorders, Insomnia[4][5]
Diagnostic methodDependent on a professional psychologist or physchiatrist's diagnosis[6]
PreventionHiring a financial advisor and preparing therapy sessions[7]
TreatmentSeeking help from a psychiatrist [8]
MedicationNo medication
Sudden Wealth Syndrome (SWS) is a term given to a psychological condition where the overwhelming pressures of unexpected and/or abrupt fortune can develop into emotional and behavioural afflictions. It can also be referred to as an identity crisis.[9] The term Sudden Wealth Syndrome was coined by practising wealth psychologist, Stephen Goldbart, co-founder of the Money, Meaning and Choices Institute (MMC Institute), as he noticed a great increase in symptoms related to gaining a large influx of wealth unexpectedly or abruptly.[9][10]
As a sub-category of abnormal psychology, Sudden Wealth Syndrome is often diagnosed by analysing common symptoms, changes in relationships, and causes.[11] Recognisable signs of developing, or having developed Sudden Wealth Syndrome, include emotional afflictions such as isolation from former relationships, the paranoia of losing one’s affluence, guilt, and the uncertainty or shock due to the unexpected nature of their fortune.[12] These often develop from situations, such as winning the lottery or other gambling activities, unprepared inheritance, cryptocurrencies, and investing in businesses.[9][13]
This sudden influx of challenging emotions can cause an individual to adopt self-destructive behaviours, which include distancing oneself from relationships.[12] Concomitantly, a person with Sudden Wealth Syndrome may notice a change in how their friends, family, and colleagues interact with them upon news of their new financial status. Further self-destructive behaviours include excessive and hasty spending, and inappropriate decision making.[10]
Treatment for Sudden Wealth Syndrome is given through therapeutic meetings, clinic visits and seeking advice from psychiatrists, psychologists, and financial advisors for additional support in overcoming the stress associated with sudden wealth.[14] If careful measures are not taken to prevent the development of Sudden Wealth Syndrome, symptoms can lead to further health diagnoses, such as depression, anxiety, and insomnia.[15]
## Contents
* 1 Classification
* 2 Etymology
* 3 Causes
* 4 Symptoms
* 4.1 Isolation and Paranoia
* 4.2 Guilt
* 4.3 Shock and Uncertainty
* 5 Effects on Relationships and Finances
* 6 Prevention
* 7 Diagnosis and Treatment
* 8 See Also
* 9 References
## Classification[edit]
Sudden Wealth Syndrome is a term given to the psychological condition or identity crisis characterised by symptoms of isolation, paranoia, guilt, uncertainty, and shock.[9] It is a form of abnormal psychology that can lead to more common mental health diagnoses, such as depression, anxiety, and insomnia.[11][15] Individuals with Sudden Wealth Syndrome often lose their fortune quickly after receiving it.[16]
The severity of Sudden Wealth Syndrome is dependent on the individual and their financial circumstances. This means the amount of wealth that can trigger symptoms and subsequent self-destructive behaviour is specific to the individual's life cycle stage, experiences, relationship with money, and other influential factors.[17] Sudden Wealth Syndrome is more likely to affect younger inheritors or younger sudden wealth recipients due to the responsibilities and changes attached to acquiring a large sum of money.[17][18][19] The condition can still impact and develop within adults and the elderly, however; due to their establishment within society and their more mature life cycle stage, many individuals within this older age bracket are most probable to accept retirement and further financial responsibility.[20]
## Etymology[edit]
The history of Sudden Wealth Syndrome is prominently linked to the Money, Meaning and Choice Institute (MMC Institute) located in California, United States. Stephen Goldbart, the co-founder of MMC Institute and wealth psychologist, coined the term in the 1990s, which has become the most commonly referred to term for the adjustment issues associated with receiving sudden wealth, although, it has not been denoted an official psychological diagnosis.[9][12]
Most reported cases of developing Sudden Wealth Syndrome are associated with modern societies due to the classification of the term first appearing in the 1990s as the MMC Institute characterised the psychological condition on their website.[12][17] A famous case of Sudden Wealth Syndrome follows Powerball winners Willie Seeley and wife, Donna who appeared on NBC’s Today Show after suddenly acquiring $3.8 million in 2013. Both Seeley and Donna experienced symptoms of depression and paranoia, as well as noticing changed relationships.[21]
However, sources have also linked the history of Sudden Wealth Syndrome to ancient Greek mythology. Some research suggests the ancient Greek myth of King Midas of Phrygia describes the first case of Sudden Wealth Syndrome. Elements of Midas’ myth exhibit common characteristics with Sudden Wealth Syndrome, such as the possible negativity of acquiring a large sum of money, distancing and isolation, the unpredictability and potential disappointment of expectations, and how it can expose underlying issues from one’s childhood.[17]
## Causes[edit]
The common situations which lead to Sudden Wealth Syndrome all encompass an unexpected or abrupt nature of circumstances.[9] The most prominent and common cases tend to arise from winning the lottery, trading in cryptocurrencies (e.g. Bitcoin), and inheriting a large sum of money from relatives.[9][14] Further examples include other gambling forms, investments, and short-term income.[20]
For inheritors of sudden wealth, younger individuals are more susceptible to developing Sudden Wealth Syndrome. Receiving an inheritance without time for preparation presents larger overwhelming responsibility, changes in lifestyle and potential change in relationships. Younger inheritors are more likely to experience confusion of their identity as they are faced with the prospect of retirement at an early age.[18] This leads to a younger individual's sense of purpose being challenged, which often results in a feeling of uncertainty regarding their direction for future careers, financial situations, and relationships.[17][18]
Additionally, factors linked to a person’s upbringing or background regarding money can also contribute to being more susceptible to developing Sudden Wealth Syndrome. Studies reveal that a person who has grown up with an unstable understanding or view of wealth is more likely to experience the symptoms associated with Sudden Wealth Syndrome, such as shock, uncertainty, paranoia, and isolation. Bankruptcies, poor boundaries surrounding money, and compulsive spending among family members are examples of common childhood experiences that lead to a person’s likelihood of developing Sudden Wealth Syndrome.[13][14] The term has also been applied to the new millionaires who made money as Silicon Valley entrepreneurs.[19]
## Symptoms[edit]
There are a multitude of symptoms related to Sudden Wealth Syndrome, which can assist in recognising the risk of, or development of the psychological condition. Symptoms commonly occur as a result of the unexpected and abrupt nature of receiving a large sum of money suddenly as it holds the potential to change their lifestyle and relationships.[9] This can create mental and emotional stress when attempting to adjust to a new lifestyle and financial situation. Symptoms typically endure over a considerable period.[12]
The most common symptoms of Sudden Wealth Syndrome include:
### Isolation and Paranoia[edit]
The pressures of obtaining a large sum of money unexpectedly can trigger many self-critical emotions. Isolation primarily occurs due to depressive moods, which influence one to distance themselves from former friends, family, and work colleagues.[10] This can be a result of a heightened sense of lifestyle differences, where an individual's social group may not be able to afford the wealth recipient’s expensive lifestyle choices, such as luxury products and travelling.[20] This may result in a person separating themselves socially and morally from former relationships, and isolating themselves from familiar environments.[17]
Paranoia can act as a symptom on its own or can be an influencing factor in isolating oneself. Typically, paranoia in Sudden Wealth Syndromes entails an extreme fear that the recipient of affluence will lose their good fortune, or it will suddenly vanish.[9] Additionally, paranoia can trigger a state known as Ticker Shock, which is used to describe someone who obsessively watches the stock market volatility to ensure their new fortune or new investments are not losing value.[12] [22]
Isolation and paranoia can also be caused by their friend, family, and/or work relations own decisions to isolate themselves from the recipient as a result of jealousy, envy or resentment.[12] These changed relationship dynamics and behaviour from an individual's social group can influence the onset of paranoia and a desire to isolate from their familiar social environments.[10][20][23] These developments of paranoia and isolation can lead to more specific mental health issues, such as anxiety disorders, diagnosed depression, and/or insomnia.[12]
### Guilt[edit]
Guilt is a common characteristic of Sudden Wealth Syndrome. Often, this results in a questioning of worthiness and guilt of procuring a large sum of money.[17] Wealth psychologist, Stephen Goldbart, compares the guilt of sudden wealth to survivor guilt.[24]
Guilt can also lead to self-destructive and self-defeating behaviours.[12] Unconscious guilt can lead to behaviours that are ways of punishment, stemming from an individual's belief that they do not deserve their good fortune and are not entitled to it.[12] According to the MMC Institute, “humans love consistency and predictability” (MMC Institute, n.d.). If a person feels guilt or anxiety about their sudden wealth, they are more likely to undermine achievements or situations that lead to their good fortune.[12]
In turn, guilt can increase feelings of depression and can cause an individual to begin to feel empty and pessimistic, and may find that normal activities once enjoyable are now uninteresting.[12] This may lead to feeling disconnected from one’s usual peers and environment, developing an identity confusion as they question why they deserve their good fortune, and eventually result in becoming out of touch with oneself.[12]
### Shock and Uncertainty[edit]
Initial reactions to acquiring sudden wealth vary depending on the individual’s background and financial circumstances.[17] A combination of shock and uncertainty can cause a person to resort to self-destructive coping mechanisms, such as making risky investments and/or promises to friends or family, and excessive spending.[25] Both shock and uncertainty endure past a momentary emotion, and can become continuing adversities throughout the duration of Sudden Wealth Syndrome.
Shock is a common response to the unexpected news of receiving a large influx of money and can cause one to feel paralysed. This can lead to many challenges, including the inability to decide how to spend one’s money. In this case, even small decisions can become stressful and overwhelming challenges for a recipient of sudden wealth. Usually, this reaction is influenced by being emotionally unprepared for the myriad of changes facing an individual post-influx of wealth.[17] These changes can include, but are not limited to, an increase in responsibility, a new lifestyle, and changed nature of relationships.[20] Consequently, shock can entail a feeling of numbness and may leave a recipient of affluence wondering what the next step in their future will be.[17]
Uncertainty accompanies shock as it can also make an individual feel paralysed and unable to make decisions. Uncertainty encompasses the confusion and lack of clarity for the future due to the overwhelming nature of suddenly becoming wealthy.[20] In turn, a person may not want to tell people of their good fortune as they have difficulty believing they have acquired it in the first place. Uncertainty can also entail identity confusion as they lose clarity of who they are and what their core values in life are.[25] Additional attention from charities and other organisations can cause the individual to feel paralysed and suspicious of a person’s intentions. As a result, an individual may further develop feelings of depression and isolation.[24]
## Effects on Relationships and Finances[edit]
Sudden Wealth Syndrome can also affect an individual's finances and relationships, often as a result of the emotional and behavioural afflictions associated with obtaining a large sum of money unexpectedly.[20] Conflicting emotions, such as paranoia, guilt, shock, and uncertainty, can cause a strain on both old and new relationships with family, friends, and work colleagues. These changes in relationships can influence an individual with Sudden Wealth Syndrome to isolate themselves from their former affiliations.[12][20] In this case, distance from relationships also occurs as new wealth can create a substantial difference in lifestyle to former friends, family, and work colleagues, where the new-found luxuries and travelling expenses are unreachable for others offered to participate in social gatherings.[20]
A more common cause is that established relationships may exhibit a change in how friends, family or work colleagues interact with the recipient. This change in relationship dynamics could be due to a difference in lifestyle, but is often associated with resentment or jealousy. Consequently, an individual must also decipher opportunistic and advantageous from genuine relationships.[20] According to research, a common experience of Sudden Wealth Syndrome is acquaintances or established friends and family looking for the benefits of a person’s wealth to be shared.[25] Salesmen, agents, financial advisors, and charities may deluge a person once news of their sudden wealth is released. Many will find people offering advice, recommendations, and new business opportunities, and will experience individuals requesting loans or gifts.[25]
Symptoms of Sudden Wealth Syndrome and the changes in lifestyles and relationships can often cause an individual to adopt self-destructive and self-defeating behaviours in response to their new financial status.[12] A struggle of adjustment can lead to overspending, pursuing risky investments, loaning money to people hastily, and giving their fortune away.[10][26] A famous study in 2010 from the Review of Economics and Statistics revealed that, out of 35,000 lottery winners who obtained between $50,000 and $150,000 in winnings, 1,900 of them had filed for bankruptcy within 5 years.[20] A 2015 paper in the American Economic Review also presented that 15% of NFL players filed for bankruptcy after 12 years of retirement. In cases of inheritance, approximately “70% of wealth transfers fail by the third generation” (Livingston, Amy, Money Crashers).[20] Many individuals with Sudden Wealth Syndrome may lose their new fortune due to a lack of planning and preparedness for the changes that will accompany their wealth.[15]
## Prevention[edit]
The prevention of Sudden Wealth Syndrome depends upon the diagnosis and recognition of early symptoms and changes in relationships.[14] As the influx of wealth is unexpected, there is a limited amount of ways to be prepared for Sudden Wealth Syndrome and in turn, to avoid developing the psychological condition.
For individuals who have received an inheritance, the news of receiving a large sum of money without prior knowledge can be overwhelming. If a parent, grandparent, or carer is considering, or has decided upon inheriting their wealth to another person, psychologists say it is important to tell them earlier rather than later.[12] The added time and prior knowledge can allow a person to comprehend the situation and plan their future accordingly with ample time to adjust to their eventual circumstances.[17]
Otherwise, in cases of lottery winners, sudden inheritances, and trading of cryptocurrencies, educating oneself is highly recommended by professionals and wealth psychologists.[15] By researching how to budget and save, understanding the investment basics, and overall gaining financial literacy, a recipient may feel more comfortable and knowledgeable of their situation.[15] An additional step to prevention is hiring a financial advisor and/or seeking a psychiatrist or psychologist for emotional support. A financial advisor's priority is to prevent the client from making missteps in their actions post-influx of wealth.[24] A financial advisor can assist with assessing the situation and providing unbiased advice for both current and future choices, such as business investments or large purchases.[10] They can also help to set realistic goals and objectives for a person’s finances, which can be broken down into categories of lifestyle, family, future, and charitable donations.[20] This analysation of short and long-term goals can provide stability to the recipient’s overwhelming circumstances.[17] Overall, a financial advisor can help to bring a “clarity and simplicity” (Stenner, Thane, Vol. 6, Iss. 12, 2003) to their client’s lives in a stressful time.[15]
Emotional planning is also a method of prevention.[20] Expert Susan Bradley calls this mechanism a decision-free zone, where the recipient is encouraged to wait a period of time before making any decisions regarding their wealth. The outcomes of this zone include staying in control, making gradual and logical decisions, understanding taxes, and working through emotions, which can give a recipient breathing space.[17] Other methods include involving oneself in community activities, maintaining discipline, and keeping their sudden wealth discreet.[9][27] Patience is also motioned as a vital quality to exercise when receiving a large influx of money unexpectedly.[24]
## Diagnosis and Treatment[edit]
There is no medicinal treatment for Sudden Wealth Syndrome. Treatments or methods of overcoming the condition usually include clinic visits and consulting in therapists, psychologists or psychiatrists.[10] This can help an individual achieve stability to their situation and provide them with both emotional and financial security.[11][17]
To diagnose and treat Sudden Wealth Syndrome, a clinician must address a person’s current emotions and behaviours, as well as their socioeconomic status and childhood relationship with money.[13] This includes analysing the recipient’s cultural views of affluence, their intra-personal relationship with themselves, and relationships with family, friends, and work colleagues.[12][13] Additionally, understanding a recipient's family origin can reveal a background or relation to compulsive spending, bankruptcy, poor boundaries surrounding money, and using money as a means of reward or control.[14]
## See Also[edit]
* Nouveau riche
## References[edit]
1. ^ "Sudden Wealth Syndrome". MMC Institute. MMC Institute. Retrieved 5 May 2020.
2. ^ Downing, Abbot (2019). Sudden Wealth: Managing the Transition (PDF). Wells Fargo Bank. pp. 4–10. Retrieved 5 May 2020.
3. ^ Chen, James. "Sudden Wealth Syndrome (SWS) Definition". Investopedia. Investopedia. Retrieved 4 April 2020.
4. ^ Schools, Pearson Global (2020). Psychology. Pearson Education Inc. pp. 144–181.
5. ^ Stenner, Thane (Dec 2003). Advisor's Edge; Montreal (Vol. 6, Iss. 12 ed.). p. 41.
6. ^ Hokemeyer, Dr. Paul. "Sudden Wealth Syndrome". DR. PAUL. Retrieved 17 April 2020.
7. ^ Downing, Abbot (2019). Sudden Wealth: Managing the Transition (PDF). Wells Fargo Bank. pp. 4–10. Retrieved 5 May 2020.
8. ^ Downing, Abbot (2019). Sudden Wealth: Managing the Transition (PDF). Wells Fargo Bank. pp. 4–10. Retrieved 5 May 2020.
9. ^ a b c d e f g h i j Chen, James (Jan 4, 2020). "Sudden Wealth Syndrome (SWS) Definition". Investopedia. Investopedia. Retrieved 7 September 2017.
10. ^ a b c d e f g Irvin, G (2012-07-06). "Too Much, Too Soon: How to Avoid Sudden Wealth Syndrome". HuffPost. Retrieved 2020-05-21.
11. ^ a b c Schools, Pearson Global (2020). Psychology. Online: Pearson Education Inc. pp. 144–181.
12. ^ a b c d e f g h i j k l m n o p q "Sudden Wealth Syndrome". MMCI Institute. Money, Meaning & Choice Institute. 22 January 2010. Retrieved 21 May 2020.
13. ^ a b c d Gallo, Eileen (Jan 2001). Journal of Financial Planning. Denver Vol 14, Iss. 1. pp. 48–50.
14. ^ a b c d e "DR. PAUL | Dr. Paul Hokemeyer | Sudden Wealth Syndrome". Retrieved 2020-05-21.
15. ^ a b c d e f Stenner, Thane (Dec 2003). Advisor's Edge. Montreal Vol. 6, Iss. 12. p. 41.
16. ^ Sullivan, Missy (2013-03-08). "Lost Inheritance". Wall Street Journal. ISSN 0099-9660. Retrieved 2020-02-03.
17. ^ a b c d e f g h i j k l m n Downing, Abbot (2019). Sudden Wealth: Managing the Transition. Wells Fargo Bank. pp. 4–10.
18. ^ a b c Dizik, Alina. "Loneliness often follows sudden wealth". www.bbc.com. Retrieved 2020-05-21.
19. ^ a b Moore, Tami James; Asay, Sylvia M. (2008). Family Resource Management. Thousand Oaks, CA: SAGE. p. 123. ISBN 978-1-4129-3750-4.
20. ^ a b c d e f g h i j k l m n Livingston, Amy. "How to Deal With Sudden Wealth Syndrome and Manage Newfound Riches". Money Crashers. Retrieved 2020-05-21.
21. ^ "'The drama is nonstop': Powerball winner 'Wild' Willie wants his old life back". NBC News. Retrieved 2020-05-21.
22. ^ "Signs of Sudden Wealth Syndrome". WebMD. Retrieved 2020-05-21.
23. ^ "Sudden Wealth Syndrome - Inheriting Money". Van Wie Financial | Fee Only. For a Reason. | Certified Financial Planners™. Retrieved 2020-05-21.
24. ^ a b c d Field, Anne (1 April 2005). "Sudden Wealth Syndrome". Primedia Business Magazines & Media Inc. 2: 1 – via Factiva.
25. ^ a b c d "Sudden Wealth – Blessing or Curse? | Cognizant Wealth Advisors". www.cognizantwealth.com. Retrieved 2020-05-21.
26. ^ Team, The Ritcey. "Sudden wealth syndrome". ritceyteam.com. Retrieved 2020-05-21.
27. ^ "Tips for Managing Sudden Wealth Syndrome". Personal Capital. 2020-01-21. Retrieved 2020-05-21.
* v
* t
* e
Sudden Wealth Syndrome
Specialty
Psychology Abnormal Psychology
Mental Health Disorders
Anxiety Disorders Insomnia Depression (mood)
Symptoms
Paranoia Social isolation
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: Dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: Luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone-binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
*[FSH]: Follicle-stimulating hormone
*[HHAT]: hedgehog acyltransferase
*[Hh]: Hedgehog
*[ABS]: amniotic band syndrome
| Sudden wealth syndrome | None | 30,206 | wikipedia | https://en.wikipedia.org/wiki/Sudden_wealth_syndrome | 2021-01-18T18:31:48 | {"wikidata": ["Q7633608"]} |
Teebi (1991) described brother and sister, offspring of healthy first-cousin Palestinian Arab parents, who had trigonocephaly, brachycephaly, bulbous nose which was slightly bifid at the tip, micrognathia, and relatively broad metatarsals and phalanges. Both showed severe psychomotor retardation. The metopic sutures were prominent and the forehead narrow.
Head \- Trigonocephaly \- Brachycephaly \- Prominent metopic sutures \- Narrow forehead Inheritance \- Autosomal recessive Neuro \- Severe psychomotor retardation Facies \- Bulbous nose \- Bifid nasal tip \- Micrognathia Limbs \- Broad metatarsals and phalanges ▲ Close
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: Dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: Luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone-binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
*[FSH]: Follicle-stimulating hormone
*[HHAT]: hedgehog acyltransferase
*[Hh]: Hedgehog
*[ABS]: amniotic band syndrome
| TRIGONOBRACHYCEPHALY, BULBOUS BIFID NOSE, MICROGNATHIA, AND ABNORMALITIES OF THE HANDS AND FEET | c1848743 | 30,207 | omim | https://www.omim.org/entry/275595 | 2019-09-22T16:21:29 | {"mesh": ["C564759"], "omim": ["275595"], "orphanet": ["3368"]} |
Familial Amyloidosis, Finnish Type
Other namesGelsolin amyloidosis
This condition is inherited in an autosomal dominant manner
Familial Amyloidosis, Finnish Type (FAF), also called hereditary gelsolin amyloidosis and AGel amyloidosis (AGel), is an amyloid condition with a number of associated cutaneous and neurological presentations deriving from the aberrant proteolysis of a mutated form of plasma gelsolin.[1] First described in 1969 by the Finnish ophthalmologist Jouko Meretoja,[2] FAF is uncommon with 400-600 cases described in Finland and 15 elsewhere.[3]
## Contents
* 1 Clinical Presentation
* 2 Plasma Gelsolin Amyloid
* 3 Names
* 4 See also
* 5 References
* 6 External links
## Clinical Presentation[edit]
The disorder is primarily associated with eye, skin, and cranial nerve symptoms with the onset of symptoms appearing between the thirties and fifties.[3] The most common characteristic is type II lattice corneal dystrophy with other signs such as polyneuropathy, dermatochalasis, open-angle glaucoma, bilateral progressive facial paralysis, cutis laxa, skin fragility with ecchymosis, facial mask, diffuse hair loss, dry skin, carpal tunnel syndrome, nephrotic syndrome, cardiomyopathy with conduction alterations, and early aging associated with the condition.[3] There are no specific treatments available.
## Plasma Gelsolin Amyloid[edit]
Plasma gelsolin is a 755 AA, 83 kDa plasma protein involved in the regulation and resolution of inflammation. It is a made up of six "gelsolin domains," each consisting of a 5-6 strand β-sheet between one long and one short α-helix.[4] Several single point mutations in the GSN gene will lead to loss of structure in residues 254-258 of the second domain. The misfold and associated increased flexibility opens up a cleavage site to the enzyme furin.[5] Plasma gelsolin is cleaved as it passes through the Golgi before being secreted from the cell. A 68 kDa C-terminal fragment is further endoproteolysed into 5 and 8 kDa fragments that are amyloidogenic.[1]
The most common mutations are D187N/Y (G654A/T on gene GSN, chromosome 9)[6] with additional reports of G167R, N184K, P432R, A551P, and Ala7fs in the medical literature.[7] Mutations are inherited in an autosomal dominant fashion.[8][9]
## Names[edit]
Many names exist in the scientific literature in reference to this disease including:
* Familial amyloid neuropathy type IV
* Familial amyloidotic polyneuropathy (FAP) type IV
* Lattice corneal dystrophy, gelsolin type
* Lattice corneal dystrophy type 2 (LCD2)
* Meretoja’s syndrome
## See also[edit]
* Wrinkly skin syndrome
* List of cutaneous conditions
* Finnish heritage disease
* Plasma gelsolin
## References[edit]
1. ^ a b Solomon, James P.; Page, Lesley J.; Balch, William E.; Kelly, Jeffery W. (June 2012). "Gelsolin amyloidosis: genetics, biochemistry, pathology and possible strategies for therapeutic intervention". Critical Reviews in Biochemistry and Molecular Biology. 47 (3): 282–296. doi:10.3109/10409238.2012.661401. ISSN 1040-9238. PMC 3337338. PMID 22360545.
2. ^ Meretoja, J. (December 1969). "Familial systemic paramyloidosis with lattice dystrophy of the cornea, progressive cranial neuropathy, skin changes and various internal symptoms. A previously unrecognized heritable syndrome". Annals of Clinical Research. 1 (4): 314–324. ISSN 0003-4762. PMID 4313418.
3. ^ a b c Friedhofer, Henri; Vassiliadis, Aneta Hionia; Scarpa, Marcela Benetti; Luitgards, Bruno Ferreira; Gemperli, Rolf (2017-12-13). "Meretoja Syndrome: General Considerations and Contributions of Plastic Surgery in Surgical Treatment". Aesthetic Surgery Journal. 38 (1): –10–NP15. doi:10.1093/asj/sjx172. ISSN 1527-330X. PMID 29149274.
4. ^ Nag, Shalini; Larsson, Mårten; Robinson, Robert C.; Burtnick, Leslie D. (2013-06-10). "Gelsolin: The tail of a molecular gymnast: Gelsolin Superfamily Proteins". Cytoskeleton. 70 (7): 360–384. doi:10.1002/cm.21117. ISSN 1949-3584. PMID 23749648.
5. ^ Kazmirski, Steven L.; Howard, Mark J.; Isaacson, Rivka L.; Fersht, Alan R. (2000-09-26). "Elucidating the mechanism of familial amyloidosis– Finnish type: NMR studies of human gelsolin domain 2". Proceedings of the National Academy of Sciences. 97 (20): 10706–10711. doi:10.1073/pnas.180310097. ISSN 0027-8424. PMC 27087. PMID 10995458.
6. ^ Kiuru‐Enari, S.; Keski‐Oja, J.; Haltia, M. (2005). "Cutis laxa in hereditary gelsolin amyloidosis". British Journal of Dermatology. 152 (2): 250–257. doi:10.1111/j.1365-2133.2004.06276.x. ISSN 1365-2133. PMID 15727635.
7. ^ Zorgati, Habiba; Larsson, Mårten; Ren, Weitong; Sim, Adelene Y. L.; Gettemans, Jan; Grimes, Jonathan M.; Li, Wenfei; Robinson, Robert C. (2019-07-09). "The role of gelsolin domain 3 in familial amyloidosis (Finnish type)". Proceedings of the National Academy of Sciences. 116 (28): 13958–13963. doi:10.1073/pnas.1902189116. ISSN 0027-8424. PMID 31243148.
8. ^ Rapini, Ronald P.; Bolognia, Jean L.; Jorizzo, Joseph L. (2007). Dermatology: 2-Volume Set. St. Louis: Mosby. ISBN 978-1-4160-2999-1.
9. ^ Ghoshdastider U, Popp D, Burtnick LD, Robinson RC (2013). "The expanding superfamily of gelsolin homology domain proteins". Cytoskeleton. 70 (11): 775–95. doi:10.1002/cm.21149. PMID 24155256.
## External links[edit]
Classification
D
* ICD-10: E85.1
* OMIM: 105120
External resources
* Orphanet: 85448
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: Dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: Luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone-binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
*[FSH]: Follicle-stimulating hormone
*[HHAT]: hedgehog acyltransferase
*[Hh]: Hedgehog
*[ABS]: amniotic band syndrome
| Familial Amyloidosis, Finnish Type | c0936273 | 30,208 | wikipedia | https://en.wikipedia.org/wiki/Familial_Amyloidosis,_Finnish_Type | 2021-01-18T19:04:43 | {"mesh": ["D028227"], "umls": ["C0936273"], "orphanet": ["85448"], "wikidata": ["Q4064296"]} |
A number sign (#) is used with this entry because of evidence that neurodevelopmental disorder with visual defects and brain anomalies (NEDVIBA) is caused by heterozygous mutation in the HK1 gene (142600) on chromosome 10q22.
Description
Neurodevelopmental disorder with visual defects and brain anomalies (NEDVIBA) is characterized by global developmental delay with impaired intellectual development and speech delay, variable visual defects, including retinitis pigmentosa and optic atrophy, hypotonia or hypertonia, and variable structural brain abnormalities. Other nonspecific features may be found (summary by Okur et al., 2019).
Clinical Features
Okur et al. (2019) reported 7 patients from 6 unrelated families with a similar neurodevelopmental disorder. The patients had global developmental delay apparent in infancy or early childhood, speech delay, and impaired intellectual development. Two sibs died of respiratory infections at 1 year of age. All had visual involvement, including 3 with retinitis pigmentosa and 5 with optic atrophy. Other visual features included cortical visual impairment, strabismus, nystagmus, and astigmatism. Brain imaging showed variable abnormalities in all but 1 patient. These included cerebral and cerebellar atrophy, thin corpus callosum, periventricular leukomalacia, brainstem abnormalities, and enlarged ventricles. Additional neurologic findings were highly variable: the deceased infant sibs had infantile spasms and limb hypertonia, whereas other patients had ataxia, hypotonia, torticollis, limb hypertonia, staring spells, and/or bulbar weakness. A few patients had scoliosis, hip dislocation, foot deformities, laryngotracheomalacia (the sibs), and/or mild nonspecific dysmorphic facial features.
Molecular Genetics
In 7 patients from 6 unrelated families with NEDVIBA, Okur et al. (2019) identified 4 different de novo heterozygous missense mutations in the HK1 gene (142600.0006-142600.0009). All mutations occurred at highly conserved residues in the N-terminal regulatory domain. The mutations, which were found by exome sequencing and confirmed by Sanger sequencing, were not present in the 1000 Genomes Project, Exome Sequencing Project, ExAC, or gnomAD databases, or in an in-house database of over 100,000 exomes. Blood cells from 2 unrelated patients had normal hexokinase activity, suggesting a different pathogenic mechanism. Other functional studies of the variant and studies of patient cells were not performed, but the authors postulated a gain-of-function effect.
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: Dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: Luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone-binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
*[FSH]: Follicle-stimulating hormone
*[HHAT]: hedgehog acyltransferase
*[Hh]: Hedgehog
*[ABS]: amniotic band syndrome
| NEURODEVELOPMENTAL DISORDER WITH VISUAL DEFECTS AND BRAIN ANOMALIES | None | 30,209 | omim | https://www.omim.org/entry/618547 | 2019-09-22T15:41:31 | {"omim": ["618547"]} |
Orthostatic hypotension is a drop in blood pressure that occurs when moving from a laying down (supine) position to a standing (upright) position. The word "orthostasis" means to stand up, so the condition is defined as low blood pressure (hypotension) that occurs upon standing.
When standing up, gravity moves blood from the upper body to the lower limbs. As a result, there is a temporary reduction in the amount of blood in the upper body for the heart to pump (cardiac output), which decreases blood pressure. Normally, the body quickly counteracts the force of gravity and maintains stable blood pressure and blood flow. In most people, this transient drop in blood pressure goes unnoticed. However, this transient orthostatic hypotension can cause lightheadedness that may result in falls and injury, particularly in older adults.
The body has difficulty achieving stable blood pressure in people with orthostatic hypotension, resulting in a prolonged drop in blood pressure that occurs within minutes after moving from laying down to standing. The vast majority of people with orthostatic hypotension do not experience symptoms related to the condition; it may be detected incidentally during routine medical testing. When measuring blood pressure, orthostatic hypotension is defined as a decrease in blood pressure by at least 20mmHg systolic or 10mmHg diastolic within 3 minutes of standing.
When signs and symptoms of orthostatic hypotension do occur, they are usually the result of a reduction in blood flow (hypoperfusion) to tissues, particularly the brain. Affected individuals may have fatigue, confusion, dizziness, blurred vision, or fainting episodes (syncope). Less frequently, affected individuals can experience muscle pain in the neck and shoulders (known as "coat hanger pain"), lower back pain, or weakness. During an episode of orthostatic hypotension, symptoms are often increased in severity by physical activity, warm temperatures, eating large meals, or standing for long periods of time.
In people with orthostatic hypotension, hypoperfusion to other organs contributes to an increased risk of life-threatening health problems, including heart attack or heart failure, a heart rhythm abnormality called atrial fibrillation, stroke, or chronic kidney failure. Additionally, affected individuals may get injured from falls during fainting episodes.
## Frequency
Orthostatic hypotension is a common condition that affects about 6 percent of the population. This condition is especially common in older adults, affecting at least 10 to 30 percent of people in this group.
## Causes
Orthostatic hypotension has two forms that result from two main causes.
The neurogenic form is caused by problems with the autonomic nervous system, which controls involuntary body functions, including blood pressure. Normally when someone stands up, processes regulated by the autonomic nervous system make the heart beat faster and the blood vessels narrow, which increases blood pressure and blood flow in the body to compensate for gravity's effect on blood movement. Disorders that affect the autonomic nervous system can impair the adjustment of blood pressure, leading to orthostatic hypotension. These disorders often have a strong genetic component and may affect multiple members of a family. Neurogenic orthostatic hypotension often occurs along with nervous system disorders such as Parkinson disease, dementia with Lewy bodies, multiple system atrophy, pure autonomic failure, diabetes, Guillain-Barré syndrome, dopamine beta-hydroxylase deficiency, or infections that cause disturbances in nerve function (neuropathy).
The non-neurogenic form of orthostatic hypotension is often caused by environmental or health factors that impair the body's mechanisms to stabilize blood pressure upon standing. These factors include heart disease, low blood volume (hypovolemia), alcohol use, or advanced age. Certain medications can also contribute to non-neurogenic orthostatic hypotension, such as antipsychotic or antidepressant drugs, drugs that treat high blood pressure by widening blood vessels (vasodilators), or drugs that help remove water and salt from the body (diuretics).
The non-neurogenic form of orthostatic hypotension is more common than the neurogenic form, but in about 40 percent of people with orthostatic hypotension the underlying cause is unknown (idiopathic).
## Inheritance Pattern
Orthostatic hypotension is a complex condition and is usually not inherited. However, having a close relative with orthostatic hypotension likely increases a person's risk of developing the condition.
When orthostatic hypotension occurs as part of a genetic syndrome, this feature follows the inheritance pattern of the syndrome.
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: Dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: Luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone-binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
*[FSH]: Follicle-stimulating hormone
*[HHAT]: hedgehog acyltransferase
*[Hh]: Hedgehog
*[ABS]: amniotic band syndrome
| Orthostatic hypotension | c0020651 | 30,210 | medlineplus | https://medlineplus.gov/genetics/condition/orthostatic-hypotension/ | 2021-01-27T08:24:52 | {"gard": ["12959"], "mesh": ["D007024"], "synonyms": []} |
A number sign (#) is used with this entry because of evidence that lung disease, immunodeficiency, and chromosome breakage syndrome (LICS) is caused by homozygous or compound heterozygous mutation in the NSMCE3 gene (608243) on chromosome 15q13.
Description
LICS is an autosomal recessive chromosome breakage syndrome characterized by failure to thrive in infancy, immune deficiency, and fatal progressive pediatric lung disease induced by viral infection. Some patients may have mild dysmorphic features (summary by van der Crabben et al., 2016).
Clinical Features
Van der Crabben et al. (2016) reported 4 children from 2 unrelated families who died in early childhood after developing rapidly progressive pulmonary disease following multiple episodes of viral pneumonia. Two sisters from a Dutch family were noted to have feeding difficulties, failure to thrive, mild psychomotor retardation, axial hypotonia, eczema, and increased susceptibility to infection. One sister had mild dysmorphic features, including large open fontanel and thin translucent skin with prominent veins. Karyotyping of peripheral lymphocytes showed multiple de novo supernumerary marker chromosomes and chromosome rearrangements. Immunologic work-up showed decreased numbers of T cells, decreased T-cell proliferative response, and impaired antibody responses. B lymphocytes levels were normal. One sister had thymic hypoplasia. Two sibs with a similar disorder from the other family had thymic hypoplasia. One sib had mild dysmorphic features, including large anterior fontanel, widely spaced eyes, flat midface, and flat nasal bridge. Lymphocytes from 1 sib showed increased sensitivity to ionizing radiation. Patients from both families died before 3 years of age. Lung abnormalities included interstitial infiltrates, alveolar damage, eosinophilic and lymphocytic pneumonia, lobular fibrosis, lobular remodeling, bronchiolitis obliterans, organizing pneumonia, interstitial fibroplasia, cystic remodeling, hyperinflation, emphysema, and interstitial hemorrhage.
Inheritance
The transmission pattern of LICS in the families reported by van der Crabben et al. (2016) was consistent with autosomal recessive inheritance.
Molecular Genetics
In 4 children from 2 unrelated families with LICS, van der Crabben et al. (2016) identified homozygous or compound heterozygous missense mutations in the NSMCE3 gene (L264F, 608243.0001 and P209L, 608243.0002). The mutations, which were found by a combination of homozygosity mapping and whole-exome sequencing, were confirmed by Sanger sequencing and segregated with the disorder in the families. Patient cells from both families showed undetectable levels of NSMCE3 as well as decreased levels of SMC5 (609386) and SMC6 (609387). In vitro studies showed that the L264F mutation abolished binding of NSMCE3 to NSMCE4 (612987) and the P209L mutation abolished binding to both NSMCE4 and NSMCE1 (617263). Patient cells showed increased sensitivity to genotoxins and impaired DNA repair due to defective homologous recombination. Nonhomologous recombination, and thus V(D)J recombination, was normal.
INHERITANCE \- Autosomal recessive GROWTH Other \- Failure to thrive HEAD & NECK Head \- Large anterior fontanel Face \- Dysmorphic facial features, mild (in some patients) RESPIRATORY Lung \- Pulmonary disease, rapidly progressive \- Viral-induced pneumonia \- Interstitial pneumonia \- Alveolar damage \- Eosinophilic pneumonia \- Lymphocytic pneumonia \- Lobular fibrosis \- Lobular remodeling \- Bronchiolitis obliterans \- Organizing pneumonia \- Interstitial fibroplasia \- Cystic remodeling \- Hyperinflation \- Emphysema \- Interstitial hemorrhage ABDOMEN Gastrointestinal \- Poor feeding SKIN, NAILS, & HAIR Skin \- Eczema (family A) MUSCLE, SOFT TISSUES \- Axial hypotonia (family A) NEUROLOGIC Central Nervous System \- Psychomotor retardation, mild (family A) IMMUNOLOGY \- Immune dysfunction \- Increased susceptibility to infection \- Decreased numbers of T cells \- Decreased T-cell proliferative response \- Impaired antibody response \- Thymic hypoplasia LABORATORY ABNORMALITIES \- Karyotyping of peripheral lymphocytes shows multiple de novo supernumerary marker chromosomes and chromosome rearrangements \- Lymphocytes and fibroblasts show increased sensitivity to ionizing radiation MISCELLANEOUS \- Four patients from 2 unrelated families have been reported (last curated December 2016) \- Onset in first months of life \- Death in first years of life MOLECULAR BASIS \- Caused by mutation in the non-structural maintenance of chromosomes element 3 homolog gene (NSMCE3, 608243.0001 ) ▲ Close
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: Dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: Luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone-binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
*[FSH]: Follicle-stimulating hormone
*[HHAT]: hedgehog acyltransferase
*[Hh]: Hedgehog
*[ABS]: amniotic band syndrome
| LUNG DISEASE, IMMUNODEFICIENCY, AND CHROMOSOME BREAKAGE SYNDROME | c4310653 | 30,211 | omim | https://www.omim.org/entry/617241 | 2019-09-22T15:46:23 | {"omim": ["617241"]} |
Dipygus
Myrtle Corbin, a famous dipygus.
SymptomsBody axis forks left and right partway along the torso with the posterior end (pelvis and legs) duplicated
CausesCongenital deformity
This article needs additional citations for verification. Please help improve this article by adding citations to reliable sources. Unsourced material may be challenged and removed.
Find sources: "Dipygus" – news · newspapers · books · scholar · JSTOR (January 2017) (Learn how and when to remove this template message)
Piglet with dipygus at Ukrainian National Chernobyl Museum in Kyiv
Dipygus is a severe congenital deformity where the body axis forks left and right partway along the torso with the posterior end (pelvis and legs) duplicated.
Myrtle Corbin[1] was a dipygus; she married and had five children. In human cases, the inner two of the four hindquarters develop much smaller than normal. This is a type of "teras catadidymum" ("monster twinned below"). Another sort of deformity with extra legs can happen from a degenerated conjoined twin, as may have happened with Frank Lentini with his third leg.
## Signs[edit]
Dipygus manifests as duplicated lower limbs and could include additional organs or bodily structures.
## Causes[edit]
Dipygus is caused by genetic, environmental, or teratogenic factors. It occurs early in intrauterine life.
## References[edit]
1. ^ Bosiljevac, Sasha. "MYRTLE CORBIN – THE FOUR-LEGGED WOMAN". thehumanmarvels.com. J TITHONUS PEDNAUD. Retrieved 1 January 2016.
This article about a congenital malformation is a stub. You can help Wikipedia by expanding it.
* v
* t
* e
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: Dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: Luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone-binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
*[FSH]: Follicle-stimulating hormone
*[HHAT]: hedgehog acyltransferase
*[Hh]: Hedgehog
*[ABS]: amniotic band syndrome
| Dipygus | c0266688 | 30,212 | wikipedia | https://en.wikipedia.org/wiki/Dipygus | 2021-01-18T18:46:52 | {"gard": ["1164"], "mesh": ["C564315"], "umls": ["C0266688"], "orphanet": ["1756"], "wikidata": ["Q5280135"]} |
A number sign (#) is used with this entry because of evidence that osteoglophonic dysplasia (OGD) is caused by heterozygous mutation in the gene encoding fibroblast growth factor receptor-1 (FGFR1; 136350) on chromosome 8p11.
Clinical Features
Beighton et al. (1980) described a seemingly 'new' form of dwarfism in a 10-year-old South African girl of mixed ancestry. The designation 'osteoglophonic,' which connotes 'hollowed out,' was based on the radiographic appearance of the metaphyses. The dwarfism was rhizomelic and the facies was grossly distorted with very marked depression of the nasal bridge, frontal bossing, and prognathism--a caricature of achondroplasia. Cystic changes like those of fibrous dysplasia were combined with the radiographic appearance of an unusual spondyloepimetaphyseal dysplasia. Reports of 2 previous cases were found. Fairbank (1951) described a severely dwarfed male at ages 10 and 24 years. Biopsy of a 'lytic' lesion in the patient of Keats et al. (1975) showed benign, whorled, fibrous tissue. In the patient of Beighton et al. (1980), the parents were nonconsanguineous and the father was 39 years old at her birth, supporting dominant inheritance.
Dominant inheritance seems established by the report of affected father and son by Kelley et al. (1983). Craniosynostosis took the form of 'Kleeblattschaedel.' Symmetrical lucent metaphyseal defects were present in most long bones.
McKusick (1980) stated that he and his colleagues had entertained the diagnosis of osteoglophonic dwarfism in a 2-month-old child who had bowing of the long bones with overlying dimples, and craniosynostosis of a single suture leading to plagiocephaly. The metaphyses showed striking cystic changes. The ribs were involved. The radiologic features superficially resembled those of Ollier disease (166000). The infant, however, was found to have hypophosphatasia (241500). This deficiency, including the biochemically variant form described by Scriver and Cameron (1969), should be sought in other cases of 'osteoglophonic dwarfism' (Reid, 1984). It is noteworthy that White et al. (2005) demonstrated hypophosphatemia secondary to renal phosphate wasting in patients with this disorder, and demonstrated a correlation with circulating levels of fibroblast growth factor-23 (FGF23; 605380). FGF23 had been shown to be produced by the nonossifying lesions in some patients with fibrous dysplasia of bone (Riminucci et al., 2003). The nonossifying lesions of dysplasia presumably produce FGF23 to account for the hypophosphatemia.
Santos et al. (1988) described a boy with features typical of osteoglophonic dwarfism who died suddenly at the age of 10 months. See review by Beighton (1989).
Molecular Genetics
White et al. (2005) demonstrated that osteoglophonic dysplasia is caused by missense mutations in highly conserved residues comprising the ligand-binding and transmembrane domains of FGFR1 (see, e.g., 136350.0008-136350.0010), thus defining novel roles for this receptor as a negative regulator of long-bone growth. A diverse group of skeletal disorders is caused by activating mutations in the genes encoding fibroblast growth factor receptors 1-3: FGFR1, FGFR2 (176943), and FGFR3 (134934). In general, mutations in FGFR1 and FGFR2 cause most of the syndromes involving craniosynostosis, whereas the dwarfing syndromes are largely associated with FGFR3 mutations. Osteoglophonic dysplasia is a 'crossover' disorder that has skeletal phenotypes associated with mutations in all 3 fibroblast growth factor receptors.
Farrow et al. (2006) identified a mutation in the FGFR1 gene (136350.0012) in the patient with OGD originally reported by Beighton et al. (1980).
Nomenclature
Greenberg and Lewis (1990) suggested that this condition should be called 'osteoglyphic' or 'osteoglyphidic' dysplasia not 'osteoglophonic' dysplasia because the Greek word referring to the notch of an arrow by which it is seated on the bowstring is translated as 'glyph' in many English suffixes.
INHERITANCE \- Autosomal dominant GROWTH Height \- Rhizomelic dwarfism Other \- Failure to thrive HEAD & NECK Face \- Frontal bossing \- Prognathism \- Midface hypoplasia \- Long philtrum Ears \- Low-set ears Eyes \- Hypertelorism \- Proptosis \- Downslanting palpebral fissures Nose \- Anteverted nares \- Short nose \- Depressed nasal bridge Mouth \- High-arched palate Teeth \- Unerupted teeth Neck \- Short neck RESPIRATORY \- Respiratory distress Nasopharynx \- Nasal obstruction CHEST Ribs Sternum Clavicles & Scapulae \- Small scapulae \- Progressive rib expansion GENITOURINARY External Genitalia (Male) \- Hypospadias \- Inguinal hernia \- Chordee Internal Genitalia (Male) \- Cryptorchidism SKELETAL Skull \- Craniosynostosis \- Kleeblattschaedel deformity \- Shallow orbits Spine \- Platyspondyly Limbs \- Short, bowed limbs \- Irregular areas of radiolucency in metaphyses \- Fractures \- Pseudoarthroses Hands \- Short, broad hands \- Short, broad metacarpals \- Short, broad phalanges Feet \- Short, broad feet \- Short, broad metatarsals SKIN, NAILS, & HAIR Skin \- Pretibial dimples Nails \- Hypoplastic toenails NEUROLOGIC Central Nervous System \- Speech delay MISCELLANEOUS \- Osteoglophonic, derived from Greek meaning "hollowed out" MOLECULAR BASIS \- Caused by mutation in the fibroblast growth factor receptor-1 gene (FGFR1, 136350.0008 ) ▲ Close
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: Dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: Luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone-binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
*[FSH]: Follicle-stimulating hormone
*[HHAT]: hedgehog acyltransferase
*[Hh]: Hedgehog
*[ABS]: amniotic band syndrome
| OSTEOGLOPHONIC DYSPLASIA | c0432283 | 30,213 | omim | https://www.omim.org/entry/166250 | 2019-09-22T16:37:01 | {"mesh": ["C536050"], "omim": ["166250"], "orphanet": ["2645"], "synonyms": ["Alternative titles", "OSTEOGLOPHONIC DWARFISM"]} |
Giant-cell fibroma is a type of fibroma not associated with trauma or irritation. It can occur at any age and on a mucous membrane surface. The most common oral locations are on the gingiva of the mandible, tongue, and palate. It is a localized reactive proliferation of fibrous connective tissue.
Giant-cell fibroma (GCF) is a benign non-neoplastic lesion first described by Weathers and Callihan (1974). It occurs in the first three decades of life and predominates in females (Houston, 1982; Bakos, 1992). Clinically, the GCF presents as an asymptomatic, papillary and pedunculated lesion. The most predominant location is the mandibular gingiva (Houston, 1982; Bakos, 1992). Histologically, the GCF is distinctive, consisting of fibrous connective tissue without inflammation and covered with stratified squamous hyperplastic epithelium. The most characteristic histological feature is the presence of large spindle-shaped and stellate-shaped mononuclear cells and multinucleated cells. These cells occur in a variety of lesions, such as the fibrous papule of the nose, ungual fibroma, acral fibrokeratoma, acral angiofibroma and desmoplastic fibroblastoma (Swan, 1988; Pitt et al., 1993; Karabela-Bouropoulou et al., 1999; Jang et al., 1999). Despite many studies, the nature of the stellated multinucleate and mononuclear cell is not clear (Weathers and Campbell, 1974; Regezi et al., 1987; Odell et al., 1994; Magnusson and Rasmusson, 1995).
## Diagnosis[edit]
PCNA and Ki67 immunoreactivity happens in case of fibroma and peripheral granuloma.[1]
## References[edit]
1. ^ Mighell, Alan J. (1996). "PCNA and Ki-67 immunoreactivity in multinucleated cells of giant cell fibroma and peripheral giant cell granuloma". Journal of Oral Pathology and Medicine. 25 (5): 193–199. doi:10.1111/j.1600-0714.1996.tb01371.x. PMID 8835814.
* Kahn, Michael A. Basic Oral and Maxillofacial Pathology. Volume 1. 2001.
This article about a disease, disorder, or medical condition is a stub. You can help Wikipedia by expanding it.
* v
* t
* e
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: Dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: Luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone-binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
*[FSH]: Follicle-stimulating hormone
*[HHAT]: hedgehog acyltransferase
*[Hh]: Hedgehog
*[ABS]: amniotic band syndrome
| Giant-cell fibroma | None | 30,214 | wikipedia | https://en.wikipedia.org/wiki/Giant-cell_fibroma | 2021-01-18T18:45:24 | {"wikidata": ["Q5558339"]} |
A rare bone development disorder characterized by abnormal bowing of the fibula with subsequent non-healing fractures and formation of a false joint (pseudoarthrosis), and instability and angulation at the pseudoarthrosis site. The defect is typically unilateral and often associated with pseudoarthrosis of the tibia and neurofibromatosis type 1.
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: Dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: Luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone-binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
*[FSH]: Follicle-stimulating hormone
*[HHAT]: hedgehog acyltransferase
*[Hh]: Hedgehog
*[ABS]: amniotic band syndrome
| Congenital pseudoarthrosis of the fibula | None | 30,215 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=295022 | 2021-01-23T17:01:21 | {"icd-10": ["Q74.2"], "synonyms": ["Congenital pseudarthrosis of the fibula"]} |
## Summary
### Clinical characteristics.
Duane syndrome is a strabismus condition clinically characterized by congenital non-progressive limited horizontal eye movement accompanied by globe retraction which results in narrowing of the palpebral fissure. The lateral movement anomaly results from failure of the abducens nucleus and nerve (cranial nerve VI) to fully innervate the lateral rectus muscle; globe retraction occurs as a result of abnormal innervation of the lateral rectus muscle by the oculomotor nerve (cranial nerve III). At birth, affected infants have restricted ability to move the affected eye(s) outward (abduction) and/or inward (adduction), though the limitations may not be recognized in early infancy. In addition, the globe retracts into the orbit with attempted adduction, accompanied by narrowing of the palpebral fissure. Many individuals with Duane syndrome have strabismus in primary gaze but can use a compensatory head turn to align the eyes, and thus can preserve binocular vision and avoid diplopia. Individuals with Duane syndrome who lack binocular vision are at risk for amblyopia. The majority of affected individuals with Duane syndrome have isolated Duane syndrome (i.e., they do not have other detected congenital anomalies). Other individuals with Duane syndrome fall into well-defined syndromic diagnoses. However, many individuals with Duane syndrome have non-ocular findings that do not fit a known syndrome; these individuals are included as part of the discussion of nonsyndromic Duane syndrome.
### Diagnosis/testing.
The diagnosis of Duane syndrome is usually made by an ophthalmologist based on clinical findings. More than 98% of individuals with isolated Duane syndrome and no family history lack an identified genetic etiology. Molecular genetic testing for a pathogenic variant in CHN1, MAFB, or SALL4 is most appropriate for those with a positive family history of isolated Duane syndrome (although de novo pathogenic variants in these genes have been detected in some simplex cases) and for those with clinical ocular findings designated as type I or type III Duane syndrome.
### Management.
Treatment of manifestations: Spectacles or contact lenses for refractive error; occlusion or penalization of the better-seeing eye for treatment of amblyopia; prism glasses (usually in older individuals with mild involvement) to improve the compensatory head position; extraocular muscle surgery to address alignment in primary gaze, compensatory head posture, and upshoot or downshoot.
Prevention of secondary complications: Amblyopia therapy to prevent vision loss in the less preferred eye; extraocular muscle surgery to prevent loss of binocular vision in individuals who abandon the compensatory head posture and allow strabismus to become manifest, and to prevent neck muscle problems in those with large compensatory head postures.
Surveillance: Ophthalmologic visits every three to six months during the first years of life to prevent, detect, and treat amblyopia; annual or biannual examinations once the presence of binocular vision and reduced risk for amblyopia is confirmed, and in all individuals older than age seven to 12; no surveillance in adulthood beyond public health guidelines.
Evaluation of relatives at risk: Eye examination within the first year of life so that early diagnosis and treatment can prevent secondary complications.
### Genetic counseling.
The majority of individuals with isolated Duane syndrome represent simplex cases (i.e., a single occurrence in a family), with a positive family history apparent for only approximately 10% of affected individuals. Duane syndrome resulting from a CHN1, MAFB, or SALL4 pathogenic variant is inherited in an autosomal dominant manner. Most individuals with isolated CHN1-, MAFB-, or SALL4-related Duane syndrome have the disorder as the result of a pathogenic variant inherited from an affected parent. Each child of an individual with Duane syndrome resulting from an identified pathogenic variant has a 50% chance of inheriting the variant. Prenatal and preimplantation genetic testing are possible once the causative pathogenic variant has been identified in an affected family member.
## Diagnosis
Duane syndrome is a strabismus condition clinically characterized by congenital non-progressive limited horizontal eye movement accompanied by globe retraction which results in narrowing of the palpebral fissure. The diagnosis of Duane syndrome is based on clinical findings and classified into three types (see Table 1).
Most affected individuals with Duane syndrome have isolated Duane syndrome (i.e., they do not have other detected congenital anomalies). Other individuals fall into well-defined syndromic diagnoses (see Genetically Related Disorders and Differential Diagnosis). However, many individuals with Duane syndrome have non-ocular findings that are not classified as a particular syndrome; they are included in this review for completeness.
The vast majority of individuals with isolated Duane syndrome represent simplex cases (i.e., a single occurrence in a family). A positive family history showing autosomal dominant inheritance is apparent for approximately 10% of affected individuals [Gutowski & Chilton 2015].
### Suggestive Findings
Duane syndrome, a congenital, non-progressive eye movement disorder, should be suspected in individuals who present with the following features:
* Congenital limited horizontal eye movement with impairment of abduction and/or adduction
* Globe retraction (co-contraction) accompanied by narrowing of the palpebral fissure (i.e., reduced distance between the upper and lower eyelids) on adduction.
Note: Adduction is movement of the globe toward the midline (the nose); abduction is movement of the globe toward the ear, away ("abducted") from the midline.
### Establishing the Diagnosis
Clinical findings. The diagnosis of Duane syndrome is established in a proband typically by an ophthalmologist with detection of the specific clinical findings of limited abduction and/or adduction in association with globe retraction on adduction. Individuals can usually be categorized within the three types detailed below, though there may be some overlap among these categories.
### Table 1.
Clinical Findings: Comparison of Duane Syndrome Types I-III
View in own window
Clinical FindingType I (~75%-80% of cases)Type II (~1%-5%)Type III (~10%-20%)
AbductionAbsent to markedly restrictedNormal to mildly restrictedAbsent to markedly restricted
AdductionNormal to mildly restrictedAbsent to markedly restrictedAbsent to markedly restricted
Globe retraction & palpebral fissure narrowingPresent on adductionPresent on adductionPresent on adduction or attempted adduction
Upshoot & downshoot of affected globe on adductionVariably presentVariably presentVariably present; more common than in types I or II
Primary gazeEsotropia, variably presentExotropia, variably presentEsotropia more common than exotropia, variably present
Anomalous head posture / head turnTurn towards involved side, variably presentTurn towards uninvolved side, variably presentTurn towards involved side, variably present
Laterality 1Unilateral or bilateralUnilateral or bilateralUnilateral or bilateral
Note: An alternative simpler classification is to note the deviation in primary gaze (esotropic or exotropic Duane syndrome) and specify whether there is limitation of adduction, abduction, or both.
1\.
The eye findings are more likely to be bilateral in familial cases and in those in whom a pathogenic variant is identified in one of the known associated genes [Engle et al 2007, Gutowski & Chilton 2015].
Molecular genetic testing (see Table 2) is most appropriate for those individuals with:
* A positive family history of Duane syndrome.
* After finding a CHN1 pathogenic variant in seven of 20 families with Duane syndrome, Miyake et al [2010] screened 140 individuals with Duane syndrome with a negative family history and failed to identify a CHN1 pathogenic variant in any individual. Of note, a suspected disease-causing CHN1 variant was identified in an affected individual lacking a positive family history [Biler et al 2017], but such reports are rare.
* Park et al [2016] studied 401 individuals with Duane syndrome and found a pathogenic variant in MAFB in four probands. Three of the probands had a positive family history; in the fourth the pathogenic variant was de novo. Also, in one of the familial pedigrees, the de novo nature of the pathogenic variant was determined for the original proband, who had unaffected parents.
* Due to variable expressivity, individuals with a SALL4 pathogenic variant may present with apparently isolated Duane syndrome themselves [Al-Baradie et al 2002, Yang et al 2013], though they may have a positive family history of syndromic Duane syndrome.
* Bilateral Duane syndrome. The eye findings are more likely to be bilateral in familial cases and in those in whom a pathogenic variant is identified in one of the known associated genes [Engle et al 2007, Gutowski & Chilton 2015].
* Duane syndrome type I or type III or a combination of those types. Duane syndrome type II has not been observed in those with a positive family history or in individuals with pathogenic variants in the identified genes, suggesting a distinct etiology [Engle et al 2007, Gutowski & Chilton 2015].
Molecular genetic testing approaches can include concurrent or serial single-gene testing, use of a multigene panel, and more comprehensive genomic testing:
* Concurrent single-gene testing. Sequence analysis of CHN1, MAFB, and SALL4 is performed first, and followed by gene-targeted deletion/duplication analysis of MAFB and SALL4 if no pathogenic variant is found.
Note: (1) If serial gene analysis is to be performed for isolated Duane syndrome, sequence analysis CHN1 is performed first, followed by sequence analysis of MAFB and gene-targeted deletion/duplication analysis if no pathogenic variant is found. The exception to this would be if there was evidence of hearing loss in addition to Duane syndrome, in which case MAFB followed by CHN1 would be more appropriate. If the causative variant is not identified, SALL4 sequencing and gene-targeted deletion/duplication analysis should be considered. (2) Since CHN1-related disease occurs through a gain-of-function mechanism and large intragenic deletion or duplication has not been reported, testing for CHN1 intragenic deletions or duplication is unlikely to identify a disease-causing variant.
* A multigene panel that includes CHN1, MAFB, SALL4, and other genes of interest (see Differential Diagnosis) is most likely to identify the genetic cause of the condition at the most reasonable cost while limiting identification of variants of uncertain significance and pathogenic variants in genes that do not explain the underlying phenotype. Note: (1) The genes included in the panel and the diagnostic sensitivity of the testing used for each gene vary by laboratory and are likely to change over time. (2) Some multigene panels may include genes not associated with the condition discussed in this GeneReview. (3) In some laboratories, panel options may include a custom laboratory-designed panel and/or custom phenotype-focused exome analysis that includes genes specified by the clinician. (4) Methods used in a panel may include sequence analysis, deletion/duplication analysis, and/or other non-sequencing-based tests.
For an introduction to multigene panels click here. More detailed information for clinicians ordering genetic tests can be found here.
* More comprehensive genomic testing (when available) including exome sequencing and genome sequencing may be considered. Such testing (which does not require the clinician to determine which gene[s] are likely involved) may provide or suggest a diagnosis not previously considered (e.g., mutation of a different gene or genes that results in a similar clinical presentation).
If exome sequencing is not diagnostic, exome array (when clinically available) may be considered to detect (multi)exon deletions or duplications that cannot be detected by sequence analysis.
For an introduction to comprehensive genomic testing click here. More detailed information for clinicians ordering genomic testing can be found here.
### Table 2.
Molecular Genetic Testing Used in Duane Syndrome
View in own window
Gene 1, 2Proportion of Duane Syndrome Attributed to Pathogenic Variants in GeneProportion of Pathogenic Variants 3 Detectable by Method
Sequence analysis 4Gene-targeted deletion/duplication analysis 5
CHN1Familial: up to 15% 6
Simplex: rare 7>99% 6, 7Unknown 8
MAFBFamilial: 4% 9, 10
Simplex: rare 93/4 91/4 9
SALL4Familial: very rare 11
Simplex: not reported 11≤80% 11, 1210%-15% 13
UnknownFamilial: ~80% 14
Simplex: >90% 14NA
1\.
Genes are listed in alphabetic order.
2\.
See Table A. Genes and Databases for chromosome locus and protein.
3\.
See Molecular Genetics for information on allelic variants detected in this gene.
4\.
Sequence analysis detects variants that are benign, likely benign, of uncertain significance, likely pathogenic, or pathogenic. Variants may include small intragenic deletions/insertions and missense, nonsense, and splice site variants; typically, exon or whole-gene deletions/duplications are not detected. For issues to consider in interpretation of sequence analysis results, click here.
5\.
Gene-targeted deletion/duplication analysis detects intragenic deletions or duplications. Methods used may include quantitative PCR, long-range PCR, multiplex ligation-dependent probe amplification (MLPA), and a gene-targeted microarray designed to detect single-exon deletions or duplications.
6\.
Probands with familial Duane syndrome described in: Miyake et al [2008], Volk et al [2010], Chan et al [2011], Miyake et al [2011], Biler et al [2017]
7\.
Probands with a family history negative for Duane syndrome described in Miyake et al [2010], Volk et al [2010], and Biler et al [2017]; however, pathogenicity of disease-associated variants was not proven for all variants.
8\.
No data on detection rate of gene-targeted deletion/duplication analysis are available; however, since CHN1 pathogenic variants act through a gain-of-function mechanism, detection of large deletions or duplication is unlikely.
9\.
Park et al [2016] studied 401 probands with Duane syndrome and found a pathogenic variant in MAFB in four probands with Duane syndrome; in three individuals the condition was familial and in the fourth the pathogenic variant was de novo. In one of the familial cases, hearing loss was present with the Duane syndrome in three of the four affected family members in three generations. In an additional ten simplex cases with Duane syndrome and hearing loss, no pathogenic variant in MAFB was identified.
10\.
Three of 77 individuals with familial Duane syndrome had a pathogenic variant in MAFB [Authors, personal observation].
11\.
Isolated Duane syndrome was observed in one of eight and one of four affected individuals in two families with a pathogenic variant in SALL4 detected on sequence analysis [Al-Baradie et al 2002, Yang et al 2013]. A study of 25 individuals with nonfamilial isolated Duane syndrome did not identify pathogenic variants on sequence analysis of SALL4 [Wabbels et al 2004].
12\.
Al-Baradie et al [2002], Kohlhase et al [2002], Kohlhase et al [2003], Borozdin et al [2004b], Kohlhase et al [2005]
13\.
Borozdin et al [2004a], Borozdin et al [2007]
14\.
Miyake et al [2008], Volk et al [2010], Chan et al [2011], Miyake et al [2011], Park et al [2016], Biler et al [2017]. In the cohort described by the authors, 98% of simplex, isolated Duane syndrome lacked an identified genetic etiology.
Note: The testing recommendations in this section are for individuals with Duane syndrome, either isolated or with one or more non-ocular anomalies that do not constitute an established or recognizable syndrome. If an individual presents with Duane syndrome plus significant anomalies that suggest the possibility of a chromosome abnormality, testing with chromosome microarray analysis (CMA) can be considered.
## Clinical Characteristics
### Clinical Description
Duane syndrome is a strabismus condition clinically characterized by congenital non-progressive limited horizontal eye movement accompanied by globe retraction which results in narrowing of the palpebral fissure. The lateral movement anomaly is due to failure of the abducens nucleus and nerve (cranial nerve VI) to fully innervate the lateral rectus muscle, with globe retraction occurring due to abnormal innervation of the lateral rectus muscle by the oculomotor nerve (cranial nerve III). At birth, affected infants have restricted ability to move the affected eye(s) outward (abduction) and/or inward (adduction), though the limitations may not be recognized in early infancy. In addition, the globe retracts into the orbit with attempted adduction, accompanied by narrowing of the palpebral fissure. Affected individuals may also have upshoot or downshoot of the affected eye on attempted adduction. For reasons yet to be determined, the left side is more commonly affected; this is supported by the authors' internal data showing that the left side is affected in 70% of unilateral cases [Gutowski & Chilton 2015; Kekunnaya et al 2012; Authors, unpublished observation].
Duane syndrome is often reported as more common in females than in males, particularly in unilateral and simplex cases [Kekunnaya et al 2012, Graeber et al 2013, Kekunnaya & Negalur 2017]. Internal data reveal that 56% of individuals with unilateral Duane syndrome are female and 51% of simplex cases are female [Authors, unpublished observation].
Restriction in vertical movement of the eyes may also be found in some individuals with Duane syndrome, depending on the associated gene (see Genotype-Phenotype Correlations).
Strabismus is the misalignment of the line of sight of the two eyes. Many individuals with Duane syndrome have strabismus in primary gaze; esotropia is more common in Duane syndrome type I and exotropia in Duane syndrome type II.
* Although esotropia is more common in most studies, a recent report found that nearly a third of individuals with Duane syndrome seen at a tertiary care center in south India had exotropia [Bhate et al 2017].
* While movement of the affected eye is impaired, when the contralateral eye is able to move freely, it allows individuals with strabismus in primary gaze to use a compensatory head turn in order to align the eyes, thus avoiding diplopia and preserving single binocular vision.
Amblyopia occurs in approximately 10% of individuals with Duane syndrome; these persons are typically a subset of those with Duane syndrome who lack binocular vision. The amblyopia in Duane syndrome responds to standard therapy if detected early; if not treated early in life, the vision loss from amblyopia is irreversible.
Visual acuity is good except in those individuals with amblyopia.
Other dysinnervation phenomena may occur in individuals with Duane syndrome. These include:
* Infraduction of the affected eye in attempted lateral gaze; this occurs in the majority of cases [Rhiu et al 2018.] The phenomenon is more likely to be observed in more severely affected individuals.
* Marcus Gunn jaw-winking phenomenon (upper eyelid movement/fluttering each time the jaw opens and closes) [Isenberg & Blechman 1983, Oltmanns & Khuddus 2010, Gupta et al 2014].
* An exaggerated oculo-auricular phenomenon (coactivation of external ear muscles during lateral gaze) [Gilbert & Hunter 2017].
* Crocodile tears (tearing with chewing due to aberrant facial salivary fibers innervating the lacrimal gland) [Gutowski & Chilton 2015].
Neuroimaging. Orbital and brain stem MRI of affected members of two pedigrees with CHN1 pathogenic variants did not visualize the abducens nerve in most affected individuals and revealed structurally abnormal lateral rectus muscles in some. The oculomotor and optic nerves were also small [Demer et al 2007]. Decreased superior oblique muscle volume has also been observed on MRI in individuals with CHN1 pathogenic variants, supporting trochlear nerve hypoplasia [Miyake et al 2011].
Magnetic resonance imaging (MRI) in simplex cases (without a pathogenic variant identified in any known gene) has verified the absence or severe hypoplasia of the abducens nerve, often with normal appearance of the lateral rectus muscle [Demer et al 2006].
### Pathophysiology
It is generally believed that Duane syndrome results from maldevelopment of motor neurons in the abducens nucleus and aberrant innervation of the lateral rectus muscle [Yüksel et al 2010]. Early studies of Duane syndrome reported fibrosis of the lateral rectus or medial rectus muscles, and suggested a primary myopathic etiology for this disorder [Matteucci 1946]. Subsequently, several postmortem examinations of individuals with simplex Duane syndrome revealed absence of the abducens motor neurons and ipsilateral cranial nerve VI, and partial innervation of the lateral rectus muscle(s) by branches from the oculomotor nerve [Hotchkiss et al 1980, Miller et al 1982]. Electromyography revealed simultaneous activation of the medial and lateral rectus muscles, supporting co-contraction of these two horizontal muscles as the cause of the globe retraction [Scott & Wong 1972].
The decreased superior oblique muscle volume observed on MRI, supporting trochlear nerve hypoplasia, leads to the suggestion that Duane syndrome resulting from pathogenic variants in CHN1 represents a congenital cranial dysinnervation disorder that results from errors not only in abducens, but also trochlear and oculomotor axon pathfinding [Miyake et al 2011].
Animal models of both CHN1 and MAFB pathogenic variants support a neurogenic cause of Duane syndrome. In CHN1-related mouse models, axons of the abducens nerve stall, then retract and die, and the lateral rectus is subsequently innervated by branches from the oculomotor nerve [Nugent et al 2017]. In Mafb-knockout mice, the abducens nucleus does not form, and the lateral rectus muscle is innervated by branches from the oculomotor nerve [Park et al 2016].
### Other Anomalies
Most affected individuals with Duane syndrome have isolated Duane syndrome without other congenital anomalies. Published estimates of individuals with other systemic findings range from lows of under 10% [Kekunnaya et al 2012] to just over 50% [Marshman et al 2000]. Far fewer individuals have a constellation of anomalies that falls within recognizable syndromic patterns which are often inherited in an autosomal dominant pattern. In the authors' cohort, approximately 30% of all individuals with a diagnosis of Duane syndrome have non-ocular systemic findings. When individuals who fall within the spectrum of SALL-4 related disorders are removed, 25% of individuals have syndromic findings [Authors, unpublished data].
From the authors' unpublished data, 26.7% of individuals with Duane syndrome who do not have a pathogenic variant in any of the currently known associated genes have non-ocular findings, ranging from minor anomalies such as preauricular tags to more severe conditions such as Hirschsprung disease.
### Genotype-Phenotype Correlations
CHN1. Individuals with pathogenic variants in CHN1 are more likely to have bilateral involvement, vertical movement abnormalities beyond the upshoot and downshoot often seen in Duane syndrome, and a positive family history when compared to individuals with Duane syndrome who do not have a CHN1 pathogenic variant [Chung et al 2000, Demer et al 2007, Engle et al 2007, Miyake et al 2008, Miyake et al 2011].
MAFB. Individuals with pathogenic variants in MAFB are more likely to have bilateral Duane syndrome and may have mild-to-severe sensorineural hearing loss in addition to the Duane syndrome. Hearing loss was documented in one of four reported pedigrees of otherwise isolated Duane syndrome, and confirmed in three of four individuals in that family [Park et al 2016].
SALL4. Individuals thus far reported with isolated Duane syndrome associated with SALL4 pathogenic variants have family members with Duane-radial ray syndrome [Al-Baradie et al 2002, Yang et al 2013]. The eye condition tends to be bilateral rather than unilateral in individuals with SALL4 variants [Kohlhase et al 2005].
### Penetrance
Families with Duane syndrome in whom a CHN1 pathogenic variant has been identified may have reduced penetrance [Engle et al 2007, Miyake et al 2008, Chan et al 2011].
There has been no evidence of reduced penetrance in the limited number of families with isolated Duane syndrome identified with MAFB or SALL4 pathogenic variants [Yang et al 2013, Park et al 2016]
### Nomenclature
Duane syndrome is named for the ophthalmologist Alexander Duane (1858-1926).
Historically, Duane syndrome was initially proposed to be myogenic in origin. Electromyography of the extraocular muscles, postmortem examinations, and MRI, however, now support a neurogenic etiology [Demer et al 2007]. This is also supported by developmental studies of mouse models [Nugent et al 2017] and has led to the proposed renaming of Duane syndrome as the "co-contractive retraction syndrome" (types 1-3) [Hertle 2002] and classification as one of the congenital cranial dysinnervation disorders [Gutowski et al 2003, Engle 2006].
### Prevalence
Duane syndrome accounts for 1%-5% of all cases of strabismus.
Isolated Duane syndrome in familial and simplex cases has been identified worldwide. The prevalence of Duane syndrome is estimated at between 1:1000 and 1:10,000 in the general population [Yüksel et al 2010, Gutowski & Chilton 2015]
## Differential Diagnosis
Duane syndrome with associated congenital anomalies. Approximately 30% of individuals with Duane syndrome have other congenital anomalies, particularly of the ear, kidney, heart, upper limbs, and skeleton. These associated anomalies are typically reported in simplex cases, but also occur together with Duane syndrome as familial malformation or genetic syndromes.
### Table 3.
Disorders to Consider in the Differential Diagnosis of Duane Syndrome with Associated Congenital Anomalies
View in own window
DisorderGene(s)MOIClinical Features of the Disorder (in addition to Duane syndrome)
Townes-Brocks syndromeSALL1AD
* Anal, ear, limb & renal anomalies
* Additional ophthalmic findings: coloboma, ptosis, epibulbar dermoid, & crocodile tears
HOXA1-related syndromes (Bosley-Salih-Alorainy syndrome, Athabascan brain stem dysgenesis syndrome; OMIM 601536)HOXA1AR
* Note: Ocular findings are usually Duane syndrome type III or horizontal gaze palsy
* Bilateral sensorineural hearing loss caused by absent cochlea & rudimentary inner-ear development
* Subsets of individuals manifest ID, autism, moderate-to-severe central hypoventilation, facial weakness, swallowing difficulties, vocal cord paresis, conotruncal heart defects, & skull & craniofacial abnormalities
Wildervanck syndrome (Cervicooculoacoustic syndrome; OMIM 314600)Unknown 1Unknown 1
* Deafness
* Klippel-Feil anomaly (fused cervical vertebrae)
Goldenhar syndrome
(hemifacial microsomia, oculoauriculovertebral spectrum; OMIM 164210)UnknownSporadic
AD
ARCraniofacial, ocular, cardiac, vertebral, & CNS defects, consistent w/maldevelopment of the 1st & 2nd branchial arches
Chromosome 8 anomaliesN/ASporadicSee footnote 2.
Other chromosome anomaliesN/ASporadicSee footnotes 3 & 4.
AD = autosomal dominant; AR = autosomal recessive; CNS = central nervous system; ID = intellectual disability; MOI = mode of inheritance
1\.
Most Wildervanck syndrome is sporadic and limited to females. A case report describes a male with Wildervanck syndrome and a 3-kb deletion at Xq26.3 encompassing one gene, FGF13, which encodes a protein that acts intracellularly in neurons throughout brain development [Abu-Amero et al 2014].
2\.
Several individuals with Duane syndrome have been reported to have chromosome 8 anomalies: anomalies of the 8q13 DURS1 locus (OMIM 126800); mosaic trisomy 8 (2 separate reports); deletion 8q13-q21.2; a de novo reciprocal balanced translocation consisting of t(6:8)(q26;q13) disrupting CPAH, the gene for carboxypeptidase; and a duplication (or microduplication) of 8q12 [Lehman et al 2009, Amouroux et al 2012, Baroncini et al 2013] and 8p11.2 deletion [Abu-Amero et al 2015]. Three reports suggest that abnormal dosage of CHD7 may cause the resultant phenotype on 8q12. Individuals described in these case reports manifest Duane syndrome with various associated congenital abnormalities including other cranial nerve deficits, facial dysmorphisms, intellectual disabilities, and cardiac defects.
3\.
Other chromosome aberrations associated with Duane syndrome have been reported to involve 2q13, 4q27-31, 6p25, 7, 10q24.2q26.3, 12q24.31, 19q13.4, 20q13.12, and 22pter-q13.31. Duane syndrome has been described in one individual with 48,XXYY syndrome and another with atypical Silver-Russell syndrome, Duane syndrome, and maternal uniparental disomy of chromosome 7.
4\.
Individuals with Duane syndrome and associated congenital defects should be evaluated further for possible underlying chromosomal rearrangements.
Other congenital cranial dysinnervation disorders. The term congenital cranial dysinnervation disorders (CCDDs) refers to disorders of innervation of cranial musculature [Gutowski et al 2003]. The ocular CCDDs are also included in the category of complex or incomitant strabismus, in which the degree of misalignment of the eyes varies with the direction of gaze.
Duane syndrome is the most common of the CCDDs. Other ocular CCDDs include those in Table 4.
### Table 4.
Other Congenital Cranial Dysinnervation Disorders to Consider in the Differential Diagnosis of Duane Syndrome
View in own window
DisorderGene(s)MOIClinical Features of the Disorder
Overlapping w/Duane syndromeDistinguishing from Duane syndrome
Congenital fibrosis of the extraocular muscles 1KIF21A
PHOX2A
TUBB2B
TUBB3AD
AROften horizontal gaze restrictionsPtosis, restricted upgaze
Moebius syndrome
(OMIM 157900)UnknownVariousHorizontal gaze palsyFacial weakness, no globe retraction
Horizontal gaze palsy with progressive scoliosis
(OMIM 607313)ROBO3ARHorizontal gaze palsyNo globe retraction, severe, early onset scoliosis
AD = autosomal dominant; AR = autosomal recessive; MOI = mode of inheritance
1\.
Congenital fibrosis of the extraocular muscles (CFEOM) refers to at least seven genetically defined syndromes: CFEOM1A, CFEOM1B, CFEOM2, CFEOM3A, CFEOM3B, CFEOM3C, and Tukel syndrome.
Complex and common forms of strabismus that could be confused with Duane syndrome are shown in Table 5.
### Table 5.
Strabismus-Associated Disorders to Consider in the Differential Diagnosis of Duane Syndrome
View in own window
DisorderClinical Features of the Disorder
Overlapping w/Duane syndromeDistinguishing from Duane syndrome
Common strabismusStrabismusFull eye movements
Sixth nerve palsyRestricted abduction, may be accompanied by esotropiaNo globe retraction or fissure narrowing
Usually acquired
Comitant esotropia w/crossed fixationMay appear to have abduction limitationFull abduction can be elicited if tested monocularly.
Congenital ocular motor apraxiaMay appear to have abduction limitationInability to generate horizontal saccades
Brown syndrome ("superior oblique tendon sheath syndrome")May appear to have abduction limitationInability to elevate the adducted eye actively or passively
## Management
### Evaluations Following Initial Diagnosis
To establish the extent of disease and needs in an individual diagnosed with Duane syndrome, the following evaluations are recommended if they have not already been completed:
* Family history
* Ophthalmologic examination
* Determination of deviation in primary gaze, anomalous head position, and horizontal and vertical gaze restrictions
* Evaluation for aberrant movements. Globe retraction with narrowing of the palpebral fissure in adduction is the sine qua non of Duane syndrome. Infraduction of the affected eye in attempted abduction is a common finding. Other features sometimes observed include up- and downshoot on adduction and Marcus Gunn jaw winking.
* Full ophthalmologic exam to assess for refractive errors, amblyopia, or amblyopia risk factors.
* Optional forced duction testing and/or force generation testing in cooperative individuals
* Photographic documentation to identify changes in the condition and for future review
* If surgery is planned, consideration of brain and orbital MRI to determine brain stem and orbital anatomy (muscles and nerves)
* General physical examination to look for systemic anomalies that can be found in individuals with Duane syndrome
* Hearing evaluation
* Consultation with a clinical geneticist and/or genetic counselor
### Treatment of Manifestations
Nonsurgical treatment of ophthalmologic findings
* Refractive errors may be managed with spectacles or contact lenses. Specialist examination is required to detect refractive errors early in life, when affected individuals may be asymptomatic, to prevent amblyopia and avoid compounding the motility problem with a focusing problem.
* Amblyopia can be treated effectively with occlusion or penalization of the better-seeing eye. Early detection (in the 1st years of life) maximizes the likelihood of a good response to treatment.
* Prism glasses may improve the compensatory head position in mild cases. They are more likely to be tolerated by older persons.
* Correction of hypermetropic refractive error in children may reduce the angle of strabismus and thus decrease the angle of head turn.
Surgical treatment of ophthalmologic findings (extraocular muscle surgery)
* Surgical intervention is usually pursued when any of the following criteria are met:
* Symptomatic compensatory head posture
* Deviation in primary gaze sufficient to provoke diplopia or amblyopia
* Disfiguring upshoot or downshoot in adduction
Note: Surgery does not generally improve abduction of the affected eye, though transposition procedures may provide partial improvement.
* Tightness of the medial rectus muscle can add to the technical difficulty of the surgical procedure.
* Postoperative overcorrection in side gaze, a common occurrence, can create new-onset diplopia.
* In esotropic Duane syndrome, diplopia occurs due to exotropia in gaze away from the affected side.
* In exotropic Duane syndrome, diplopia occurs due to an increase in esotropia in gaze toward the affected side.
Principles of surgical approach (reviewed by Kekunnaya et al [2015] and Doyle & Hunter [2019])
* Esotropic Duane syndrome. Consider recession of the medial rectus muscle or lateral transposition of one or both vertical rectus muscles (with or without simultaneous weakening of the medial rectus muscle by recession or botulinum toxin injections). Vertical rectus muscle transposition may be augmented by simultaneous resection of the transposed muscles or by placing posterior augmentation sutures on the transposed muscles. When globe retraction is mild, recession of the medial rectus muscle may be combined with a modest resection of the lateral rectus muscle. If globe retraction is severe and creates a deformity, consider recession of both the medial and lateral rectus muscles. Contralateral medial rectus recession may be added for large deviations.
* Up- and/or downshoot in adduction. Y-splitting of the lateral rectus muscle reduces upshoot and downshoot in adduction without altering the alignment in primary gaze.
* Exotropic Duane syndrome. Consider recession of the ipsilateral lateral rectus muscle in most cases. In more severe cases, a large lateral rectus recession may be combined with lateral transposition of one or both vertical rectus muscles.
### Surveillance
Surveillance is important for prevention of amblyopia, and to treat amblyopia if it occurs.
* Routine ophthalmologic visits every three to six months during the first years of life
* Annual or biannual examinations in affected individuals once the presence of binocular vision and reduced risk for amblyopia is confirmed, and in all individuals older than age seven to 12
* No surveillance in adulthood beyond public health guidelines
### Evaluation of Relatives at Risk
Ophthalmologic examination within the first year of life is appropriate in order to identify as early as possible those who would benefit from initiation of treatment and preventive measures. If the pathogenic variant in the family is known, molecular genetic testing can be used to clarify the genetic status of at-risk relatives.
See Genetic Counseling for issues related to testing of at-risk relatives for genetic counseling purposes.
### Therapies Under Investigation
Search ClinicalTrials.gov in the US and EU Clinical Trials Register in Europe for access to information on clinical studies for a wide range of diseases and conditions. Note: There may not be clinical trials for this disorder.
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: Dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: Luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone-binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
*[FSH]: Follicle-stimulating hormone
*[HHAT]: hedgehog acyltransferase
*[Hh]: Hedgehog
*[ABS]: amniotic band syndrome
| Duane Syndrome | c0013261 | 30,216 | gene_reviews | https://www.ncbi.nlm.nih.gov/books/NBK1190/ | 2021-01-18T21:30:00 | {"mesh": ["D004370"], "synonyms": ["Duane Anomaly", "Isolated; Duane Retraction Syndrome; Stilling-Turk-Duane Syndrome"]} |
Ketotic hypoglycemia is a medical term used in two ways: (1) broadly, to refer to any circumstance in which low blood glucose is accompanied by ketosis, and (2) in a much more restrictive way to refer to recurrent episodes of hypoglycemic symptoms with ketosis and, often, vomiting, in young children. The first usage refers to a pair of metabolic states (hypoglycemia plus ketosis) that can have many causes, while the second usage refers to a specific "disease" called ketotic hypoglycemia.
Ketotic hypoglycemia more commonly refers to a common but mysterious "disease" of recurrent hypoglycemic symptoms with ketosis in young children. The cause and the homogeneity of the condition remain uncertain,[1] but a characteristic presentation, precipitating factors, diagnostic test results, treatment, and natural history can be described. It remains one of the more common causes of hypoglycemia in the age range.[2]
## Contents
* 1 Presentation
* 1.1 Ketotic hypoglycemia in glycogen storage disease
* 2 Cause
* 3 Natural history
* 4 Diagnosis
* 5 Treatment
* 6 References
* 7 External links
## Presentation[edit]
The typical patient with ketotic hypoglycemia is a young child between the ages of 10 months and 6 years. Episodes nearly always occur in the morning after an overnight fast, often one that is longer than usual. Symptoms include those of neuroglycopenia, ketosis, or both. The neuroglycopenic symptoms usually include lethargy and malaise, but may include unresponsiveness or seizures. The principal symptoms of ketosis are anorexia, abdominal discomfort, and nausea, sometimes progressing to vomiting.
If severe, parents usually take the child to a local emergency department, where blood is drawn. The glucose is usually found to be between 35 and 60 mg/dl (1.8-3.1 mmol/L). The total CO2 is usually somewhat low as well, (14-19 mmol/L is typical), and if urine is obtained, high levels of ketones are discovered. Ketones can also be measured in the blood at the bedside (Medisense glucometer). Other routine tests are normal. If given intravenous fluids with saline and dextrose, the child improves dramatically and is usually restored to normal health within a few hours. These symptoms are normally seen because of the child being unadapted to using fat as energy, typically when the child's daily glucose intake might be too high (more than 50g/day for a child). This is also associated with fluctuant glycemia throughout the day.[3]
A first episode is usually attributed to a viral infection or acute gastroenteritis. However, in most of these children one or more additional episodes recur over next few years and become immediately recognizable to the parents. In mild cases, carbohydrates and a few hours of sleep will be enough to end the symptoms. Thus said, the required amount of carbohydrate intake of a child, as well as for an adult is close to 0, because the liver can supply the required glucose quantity needed for the body through gluconeogenesis.
Precipitating factors, conditions that trigger an episode, may include extended fasting (e.g., missing supper the night before), a low carbohydrate intake the previous day (e.g., a hot dog without a bun), or stress such as a viral infection. Most children affected by ketotic hypoglycemia have a slender build, many with a weight percentile below height percentile, though without other evidence of malnutrition. Overweight children are rarely affected.
### Ketotic hypoglycemia in glycogen storage disease[edit]
Some of the subtypes of glycogen storage disease show ketotic hypoglycemia after fasting periods. Especially glycogen storage disease type IX can be a common cause for ketotic hypoglycemia, with the most common sub-type IXa mainly affecting boys. [4] With glycogen storage disease type XIa, children can usually appear overweight for height, but this is attributed to an enlarged liver (hepatomegaly).
## Cause[edit]
There are hundreds of causes of hypoglycemia. Normally, the defensive, physiological response to a falling blood glucose is reduction of insulin secretion to undetectable levels, and release of glucagon, adrenaline, and other counterregulatory hormones. This shift of hormones initiates glycogenolysis and gluconeogenesis in the liver, and lipolysis in adipose tissue. Lipids are metabolized to triglycerides, in turn to fatty acids, which are transformed in the mitochondria of liver and kidney cells to the ketone bodies— acetoacetate, beta-hydroxybutyrate, and acetone. Ketones can be used by the brain as an alternate fuel when glucose is scarce. A high level of ketones in the blood, ketosis, is thus a normal response to hypoglycemia in healthy people of all ages.
The presence or absence of ketosis is therefore an important clue to the cause of hypoglycemia in an individual patient. Absence of ketosis ("nonketotic hypoglycemia") most often indicates excessive insulin as the cause of the hypoglycemia. Less commonly, it may indicate a fatty acid oxidation disorder.
## Natural history[edit]
Children "outgrow" ketotic hypoglycemia, presumably because fasting tolerance improves as body mass increases. In most the episodes become milder and more infrequent by 4 to 5 years of age and rarely occur after age 9.[5] Onset of hypoglycemia with ketosis after age 5 or persistence after age 7 should elicit referral and an intensive search for a more specific disease.
## Diagnosis[edit]
The diagnosis is based on a combination of typical clinical features and exclusion by a pediatric endocrinologist of other causes of "hypoglycemia with ketosis," especially growth hormone deficiency, hypopituitarism, adrenal insufficiency, and identifiable inborn errors of metabolism such as organic acidoses.
The most useful diagnostic tests include measurement of insulin, growth hormone, cortisol, and lactic acid at the time of the hypoglycemia. Plasma acylcarnitine levels and urine organic acids exclude some of the important metabolic diseases. When the episodes are recurrent or severe, the definitive test is a hospitalization for a supervised diagnostic fast. This usually demonstrates "accelerated fasting"—a shorter time until the glucose begins to fall, but normal metabolic and counterregulatory responses as the glucose falls. As the glucose reaches hypoglycemic levels, the insulin is undetectable, counterregulatory hormones, fatty acids, and ketones are high, and glucagon injection elicits no rise of glucose.
## Treatment[edit]
Once ketotic hypoglycemia is suspected and other conditions excluded, appropriate treatment reduces the frequency and duration of episodes.[6] Extended fasts should be avoided. The child should be given a bedtime snack of carbohydrates (e.g. spaghetti or pasta or milk) and should be awakened and fed after the usual duration of sleep. If the child is underweight, a daily nutritional supplement may be recommended. Raw cornstarch dissolved in a beverage helps individuals with hypoglycemia, especially that caused by Glycogen Storage Disease, sustain their blood sugars for longer periods of time and may be given at bedtime.
If a spell begins, carbohydrates and fluids should be given promptly. If vomiting prevents this, the child should be taken to the local emergency department for a few hours of intravenous saline and dextrose. This treatment is often expedited by supplying the parents with a letter describing the condition and recommended treatment.
## References[edit]
1. ^ Marcus et al., "Insufficient Ketone Body Use Is the Cause of Ketotic Hypoglycemia in One of a Pair of Homozygotic Twins," Journal of Clinical Endocrinology & Metabolism. August 2007. doi:10.1210/jc.2007-0661
2. ^ Robert P Hoffman. "Pediatric Hypoglycemia." Medscape Reference. Updated November 4, 2009.
3. ^ Manninen, Anssi H (2004-12-31). "Metabolic Effects of the Very-Low-Carbohydrate Diets: Misunderstood "Villains" of Human Metabolism". Journal of the International Society of Sports Nutrition. 1 (2): 7–11. doi:10.1186/1550-2783-1-2-7. ISSN 1550-2783. PMC 2129159. PMID 18500949.
4. ^ Brown et al., "Evaluation of glycogen storage disease as a cause of ketotic hypoglycemia in children", Journal of Inherited Metabolic Disease. May 2015. doi:10.1007/s10545-014-9744-1
5. ^ Hoffmann et al., ed. "Inherited Metabolic Diseases: A Clinical Approach," Springer-Verlag Berlin Heidelberg, 2010.
6. ^ "Hypoglycemia | Pediatrics Clerkship | the University of Chicago".
## External links[edit]
Classification
D
* ICD-10: E16.2
External resources
* Patient UK: Ketotic hypoglycemia
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: Dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: Luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone-binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
*[FSH]: Follicle-stimulating hormone
*[HHAT]: hedgehog acyltransferase
*[Hh]: Hedgehog
*[ABS]: amniotic band syndrome
| Ketotic hypoglycemia | c0271713 | 30,217 | wikipedia | https://en.wikipedia.org/wiki/Ketotic_hypoglycemia | 2021-01-18T19:01:05 | {"wikidata": ["Q1403928"]} |
Propionic acidemia (PA) is an organic aciduria caused by the deficient activity of the propionyl Coenzyme A carboxylase and is characterized by life threatening episodes of metabolic decompensation, neurological dysfunction and that may be complicated by cardiomyopathy.
## Epidemiology
The prevalence rate is probably about 1 in 100,000 live births worldwide. A high prevalence rate is noted in certain countries like Saudi Arabia.
## Clinical description
Propionic acidemia can present in one of the following forms: severe neonatal onset, intermittent late onset or a chronic progressive form. In the severe neonatal onset form, the affected infants present with symptoms of metabolic intoxication (poor feeding, vomiting, altered sensorium) and pancytopenia within several hours to weeks after birth. In the intermittent late onset form, the disease presents after a year or even later in life with episodes of metabolic decompensation provoked by periods of catabolic stress like fever, vomiting and trauma. Patients may also present with acute neurological crisis characterized by dystonia, rigidity, choreoathetosis and dementia (due to infarction of basal ganglia). In the chronic progressive form, the disease presents as failure to thrive, chronic vomiting, psychomotor delay, hypotonia, seizures and movement disorders. Intellectual disability, optic neuropathy, cardiomyopathy, long QT syndrome, pancreatitis, dermatitis, and immune dysfunction are known complications.
## Etiology
PA is caused by mutations in either the PCCA (13q32) or PCCB (3q21-q22) genes encoding the α- and β-subunits of the propionyl CoA carboxylase.
## Diagnostic methods
Extended newborn screening test identifies PA by detecting an elevated level of propionyl carnitine. Symptomatic cases present during metabolic decompensation with acidosis, ketosis, increased anion gap, hyperlactatemia, hyperglycinemia, hyperammonemia, hypoglycemia and cytopenias. Urine analysis by gas chromatography-mass spectrometry reveals a characteristic pattern with 3 hydroxy propionate, methyl citrate, propionyl glycine and propionyl carnitine that persists in between crisis. Confirmation of the diagnosis relies on detection of either deficient enzymatic activity or mutations in PCCA or PCCB genes.
## Differential diagnosis
Differential diagnosis includes neonatal sepsis, other branched chain organic acidurias, pyloric stenosis or other common causes of increased anion gap acidosis. In the infantile chronic form, failure to thrive, chronic vomiting and neutropenia may mimic cow milk intolerance, celiac disease (see this term) or immune deficiencies.
## Antenatal diagnosis
Prenatal diagnosis can be made by measuring propionyl carnitine, methyl citrate and 3 hydroxy propionate in the amniotic fluid or by DNA assay or direct enzyme assay in families with a known mutation.
## Genetic counseling
Inheritance is autosomal recessive.
## Management and treatment
Confirmation of the diagnosis is not indispensable to start the treatment. Reversal of catabolism by stopping protein intake and administering non-protein calories in the form of intravenous fluids is the mainstay of treatment of a crisis. Hyperammonemia is treated by administering sodium benzoate, carbamyl glutamate or by hemodialysis. Nutrition management, in particular protein restriction, is a cornerstone to the long term treatment of patients with PA. Growth is regularly monitored. Carnitine supplementation helps in detoxification. Avoiding metabolic decompensation and promptly treating the episodes with standard treatment may improve intellectual outcome.
## Prognosis
Early detection and treatment has led to a reduction in the mortality rate in the first year of life and improved survival rates in early and mid-childhood but morbidity in terms of impaired cognitive development remains high. The question whether a liver transplantation can be performed early in infancy to improve the prognosis is still under investigation.
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: Dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: Luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone-binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
*[FSH]: Follicle-stimulating hormone
*[HHAT]: hedgehog acyltransferase
*[Hh]: Hedgehog
*[ABS]: amniotic band syndrome
| Propionic acidemia | c0268579 | 30,218 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=35 | 2021-01-23T18:29:48 | {"gard": ["467"], "mesh": ["D056693"], "omim": ["606054"], "umls": ["C0268579", "C0311298", "C2717876"], "icd-10": ["E71.1"], "synonyms": ["Ketotic hyperglycinemia", "Propionic aciduria", "Propionyl-CoA carboxylase deficiency"]} |
CHD2 myoclonic encephalopathy is a condition characterized by recurrent seizures (epilepsy), abnormal brain function (encephalopathy), and intellectual disability. Epilepsy begins in childhood, typically between ages 6 months and 4 years. Each individual may experience a variety of seizure types. The most common are myoclonic seizures, which involve involuntary muscle twitches. Other seizure types include sudden episodes of weak muscle tone (atonic seizures); partial or complete loss of consciousness (absence seizures); seizures brought on by high body temperature (febrile seizure); or tonic-clonic seizures, which involve loss of consciousness, muscle rigidity, and convulsions. Some people with CHD2 myoclonic encephalopathy have photosensitive epilepsy, in which seizures are triggered by flashing lights. Some people with CHD2 myoclonic encephalopathy experience a type of seizure called atonic-myoclonic-absence seizure, which begins with a drop of the head, followed by loss of consciousness, then rigid movements of the arms. Epilepsy can worsen, causing prolonged episodes of seizure activity that last several minutes, known as status epilepticus. The seizures associated with CHD2 myoclonic encephalopathy are called refractory because they usually do not respond to therapy with anti-epileptic medications.
Other signs and symptoms of CHD2 myoclonic encephalopathy include intellectual disability that ranges from mild to severe and delayed development of speech. Rarely, individuals can have a loss of acquired skills (developmental regression) following the onset of epilepsy. Some people with CHD2 myoclonic encephalopathy have autism spectrum disorders, which are conditions characterized by impaired communication and social interaction. In some instances, areas with a loss of brain tissue (atrophy) have been found with medical imaging.
## Frequency
The prevalence of CHD2 myoclonic encephalopathy is unknown; at least 32 cases have been described in the scientific literature.
## Causes
As its name suggests, CHD2 myoclonic encephalopathy is caused by mutations in the CHD2 gene. This gene provides instructions for making a protein called chromodomain DNA helicase protein 2. This protein is found in cells throughout the body and regulates gene activity (expression) through a process known as chromatin remodeling. Chromatin is the complex of DNA and proteins that packages DNA into chromosomes. The structure of chromatin can be changed (remodeled) to alter how tightly DNA is packaged. The role of chromodomain DNA helicase protein 2 in the brain is unknown. Researchers suspect that the protein may be involved in regulating the development and functioning of nerve cells.
CHD2 gene mutations either prevent the production of any chromodomain DNA helicase protein 2 or lead to the production of a nonfunctional version of the protein. As a result, chromatin remodeling and gene expression normally regulated by chromodomain DNA helicase protein 2 are disrupted. It is unclear why CHD2 gene mutations seem to only affect nerve cells in the brain or how they lead to the signs and symptoms of CHD2 myoclonic encephalopathy.
### Learn more about the gene associated with CHD2 myoclonic encephalopathy
* CHD2
## Inheritance Pattern
This condition is considered autosomal dominant, which means one copy of the altered gene in each cell is sufficient to cause the disorder.
This condition results from new (de novo) mutations in the gene that occur during the formation of reproductive cells (eggs or sperm) or in early embryonic development. These cases occur in people with no history of the disorder in their family.
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: Dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: Luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone-binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
*[FSH]: Follicle-stimulating hormone
*[HHAT]: hedgehog acyltransferase
*[Hh]: Hedgehog
*[ABS]: amniotic band syndrome
| CHD2 myoclonic encephalopathy | c3809278 | 30,219 | medlineplus | https://medlineplus.gov/genetics/condition/chd2-myoclonic-encephalopathy/ | 2021-01-27T08:24:49 | {"omim": ["615369"], "synonyms": []} |
Lopez-Hernandez syndrome, which may be classified among the neurocutaneous syndromes, associates abnormalities of the cerebellum (rhombencephalosynapsis), cranial nerves (trigeminal anesthesia), and scalp (alopecia). It has been reported in 11 individuals so far. Other features observed in patients were craniosynostosis, midfacial hypoplasia, bilateral corneal opacities, low-set ears, short stature, moderate intellectual impairment and ataxia. Hyperactivity, depression, self-injurious behaviour and bipolar disorder have also been reported.
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: Dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: Luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone-binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
*[FSH]: Follicle-stimulating hormone
*[HHAT]: hedgehog acyltransferase
*[Hh]: Hedgehog
*[ABS]: amniotic band syndrome
| Gómez-López-Hernández syndrome | c0795959 | 30,220 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=1532 | 2021-01-23T18:21:36 | {"gard": ["1586", "229"], "mesh": ["C537285"], "omim": ["601853"], "umls": ["C0795959"], "icd-10": ["Q07.8"], "synonyms": ["Cerebellotrigeminal-dermal dysplasia syndrome", "Craniosynostosis-alopecia-brain defect syndrome"]} |
By the study of mouse-human lymphocyte hybrids, Nikinmaa et al. (1983) assigned to chromosome 11 the gene for a cell surface glycoprotein recognized by a mouse monoclonal antibody, Mab4. The antigen is present on all human peripheral blood leukocytes on human fibroblasts and on human lymphoid and erythroid cell lines but not on erythrocytes. Its apparent molecular weight is 75,000. The F10.44.2 antigen (143040) has a molecular weight of 105,000. The cell surface antigen demonstrated by Barnstable et al. (1978) and mapped to chromosome 11 is a glycolipid as is probably that of Buck and Bodmer (1975), likewise mapped to chromosome 11. At least one of the 'lethal antigens' mapped to chromosome 11 (a1, 151250) by the Denner group is a macroglycolipid. These differences plus some differences in tissue distribution suggest that the cell surface glycoprotein mapped by Nikinmaa et al. (1983) may be distinct.
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: Dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: Luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone-binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
*[FSH]: Follicle-stimulating hormone
*[HHAT]: hedgehog acyltransferase
*[Hh]: Hedgehog
*[ABS]: amniotic band syndrome
| SURFACE ANTIGEN, GLYCOPROTEIN 75 | c1861423 | 30,221 | omim | https://www.omim.org/entry/185540 | 2019-09-22T16:34:03 | {"omim": ["185540"], "synonyms": ["Alternative titles", "SURFACE GLYCOPROTEIN 75"]} |
A number sign (#) is used with this entry because combined oxidative phosphorylation deficiency-7 (COXPD7) is caused by homozygous mutation in the C12ORF65 gene (613541) on chromosome 12q24.
For a discussion of genetic heterogeneity of combined oxidative phosphorylation deficiency, see COXPD1 (609060).
Clinical Features
Antonicka et al. (2010) reported 3 patients, including 2 sibs, with a complex phenotype associated with a combined mitochondrial oxidative phosphorylation deficiency. The first child was a girl, born of consanguineous Turkish parents, who showed failure to thrive and psychomotor regression beginning at age 1 year. At 18 months, she had psychomotor retardation, ataxia, and ptosis. She later developed nystagmus, severe optic atrophy, decreased vision, and ophthalmoplegia. Brain MRI showed bilateral lesions in the thalami, brainstem, and medulla spinalis, consistent with a diagnosis of Leigh syndrome (256000). By the time of her death at age 8 years, she was hypermobile with ataxia and used a wheelchair. The second family was Dutch and had 2 affected boys. Both had initial normal development but developed nystagmus in early childhood, followed by developmental regression at ages 3-4 and 7 years, respectively. One patient became wheelchair-dependent at age 8, and ventilator-dependent with a gastrostomy tube due to paralytic ileus at age 14. Examination at age 20 years showed significant ocular involvement with optic atrophy and diminished vision, divergent squint, and incomplete external ophthalmoplegia. Other features included bulbar paresis with facial diplegia, difficulty chewing and swallowing, and mild dysarthria. He also had evidence of an axonal polyneuropathy with global muscle atrophy, hypotonia, areflexia, and decreased distal sensory functions. The affected brother had a similar disease course and died at age 22 years. Brain MRI showed extensive signal abnormalities in the brainstem and signal abnormalities in the cerebellar white matter and thalamus. Magnetic resonance spectroscopy of the brainstem revealed highly elevated lactate. Antonicka et al. (2010) noted that the disease progression in these patients was slower than that seen in patients with classic Leigh syndrome.
Biochemical Features
By laboratory studies of fibroblasts isolated from patients with a complex neurologic disorder, Antonicka et al. (2010) found severe assembly defects of mitochondrial respiratory complexes I, IV, and V, with a milder defect in the assembly of complex III. There was also a 30% decrease in the synthesis of mtDNA-encoded polypeptides with normal transcript levels, indicating a deficiency of mitochondrial translation. Mitochondrial ribosomal proteins were normal on Western blot analysis.
Inheritance
COXPD7 is inherited in an autosomal recessive manner (Antonicka et al., 2010).
Molecular Genetics
By genomewide linkage analysis followed by candidate gene sequencing in a patient with a combined oxidative phosphorylation defect born of consanguineous Turkish parents, Antonicka et al. (2010) identified a homozygous mutation in the C12ORF65 gene (613541.0001). Two affected brothers from a Dutch family with the same disorder carried a different homozygous mutation (613541.0002).
INHERITANCE \- Autosomal recessive GROWTH Other \- Failure to thrive HEAD & NECK Face \- Facial diplegia Eyes \- Nystagmus \- Ophthalmoplegia \- Optic atrophy \- Visual impairment \- Ptosis ABDOMEN Gastrointestinal \- Paralytic ileus \- Difficulty chewing and swallowing MUSCLE, SOFT TISSUES \- Hypotonia \- Muscle weakness \- Muscle atrophy NEUROLOGIC Central Nervous System \- Psychomotor regression \- Psychomotor retardation \- Dysarthria \- Ataxia \- Loss of independent ambulation \- Bulbar paresis \- Brain imaging shows lesions in the thalami, brainstem, and cerebellum \- Increased CSF lactate Peripheral Nervous System \- Axonal polyneuropathy \- Areflexia \- Distal sensory impairment LABORATORY ABNORMALITIES \- Increased serum lactate \- Fibroblasts show decreased activity of mitochondrial respiratory complex I, complex III, complex IV, and complex V MISCELLANEOUS \- Onset in early childhood \- Progressive disorder \- Two families have been reported (September 2010) MOLECULAR BASIS \- Caused by mutation in the chromosome 12 open reading frame 65 gene (C12ORF65, 613541.0001 ) ▲ Close
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: Dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: Luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone-binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
*[FSH]: Follicle-stimulating hormone
*[HHAT]: hedgehog acyltransferase
*[Hh]: Hedgehog
*[ABS]: amniotic band syndrome
| COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 7 | c3150801 | 30,222 | omim | https://www.omim.org/entry/613559 | 2019-09-22T15:58:17 | {"doid": ["0060286"], "omim": ["613559"], "orphanet": ["254930"], "synonyms": ["COXPD7", "Severe C12ORF65-related COXPD", "Severe C12ORF65-related combined oxidative phosphorylation defect"]} |
Craniosynostosis-dental anomalies is a rare, genetic, cranial malformation syndrome characterized by premature fusion of multiple or all calvarial sutures (resulting in variable abnormal shape of the head), midface hypoplasia, delayed and ectopic tooth eruption and supernumerary teeth. Associated facial dysmorphism includes proptosis, hypertelorism, beaked nose, and relative prognathism. Variable digital anomalies (e.g. finger and/or toe syndactyly, clinodactyly), short stature, cognitive and/or motor delay, high palate, ear deformity and conductive hearing loss have also been reported.
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: Dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: Luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone-binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
*[FSH]: Follicle-stimulating hormone
*[HHAT]: hedgehog acyltransferase
*[Hh]: Hedgehog
*[ABS]: amniotic band syndrome
| Craniosynostosis-dental anomalies | c3280073 | 30,223 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=284149 | 2021-01-23T18:23:10 | {"omim": ["614188"], "icd-10": ["Q87.0"], "synonyms": ["Kreiborg-Pakistani syndrome"]} |
A number sign (#) is used with this entry because hereditary nonpolyposis colorectal cancer-4 (HNPCC4) is caused by heterozygous mutation in the PMS2 gene (600259) on chromosome 7p22.
Clinical Features
Nicolaides et al. (1994) identified a germline deletion in the PMS2 gene in a patient with a family history of HNPCC. A second deletion was found in the patient's tumor sample. The tumor from this patient exhibited microsatellite instability.
To examine the contribution of the PMS2 and EXO1 (606063) genes to the HNPCC disease phenotype, Thompson et al. (2004) studied 21 families negative for mutations in MSH2 (609309) and MLH1 (120436) that fulfilled the Amsterdam diagnostic criteria. They found that mutation in PMS2 accounts for only a small proportion of HNPCC families.
Worthley et al. (2005) tested a cohort of 80 patients with features suggestive of HNPCC for evidence of defective mismatch repair and exclusive loss of expression of the PMS2 gene in the tumor. They identified a family with HNPCC due to autosomal dominant inheritance of a loss-of-function mutation in the PMS2 gene and stated that this was the first description of such a kindred. The proband had been diagnosed with cancer of the transverse colon at 49 years of age. Two years later he developed and subsequently died of metastatic esophageal adenocarcinoma. His mother developed endometrial cancer at 60 years of age and carcinoma of the cecum at age 80 years. His maternal grandfather and great-uncle developed colorectal cancer at 66 and 45 years of age, respectively. The brother of the proband had 2 sessile polyps removed from the sigmoid colon, 1 at age 47 and the other at age 49. A maternal uncle died of metastatic squamous cell carcinoma of the esophagus, and his daughter developed breast cancer at the age of 25 years.
Hendriks et al. (2006) summarized the phenotype of 7 families with colorectal cancer and a truncating mutation in the PMS2 gene. Although only 3 of the 7 families fulfilled the Amsterdam criteria, in 6 of the 7 families, the pattern of inheritance appeared to be autosomal dominant. The most frequently observed cancer in proven mutation carriers was colorectal carcinoma, followed by endometrial carcinoma and ovarian carcinoma. The mean age at diagnosis was 52 years, approximately 7 to 8 years higher than the mean age of diagnosis observed in families associated with MLH1 and MSH2 mutations. Hendriks et al. (2006) hypothesized that the attenuated phenotype of families with PMS2 mutations may be explained by the fact that in the absence of PMS2, a functional MLH1 and MLH3 (604395) heterodimeric protein can be formed that is able to repair DNA mismatches. In families with MLH1 or MSH2 gene defects, no alternative heterodimers can be created, with consequently a complete inactivation of the mismatch repair system with massive microsatellite instability and a higher risk of cancer.
Goodenberger et al. (2016) examined the penetrance and presentation of colorectal cancer in 234 monoallelic PMS2 mutation carriers from 170 families. Approximately 8% of those with colorectal cancer were diagnosed before age 30, and each of these tumors presented on the left side of the colon. As it was unknown what causes the early onset of colorectal cancer in some families with monoallelic PMS2 germline mutations, the authors recommended against reducing cancer surveillance guidelines in families found to have monoallelic PMS2 mutations, in spite of the reduced penetrance (15-20%, according to Senter et al. (2008)).
Molecular Genetics
Heterozygous mutation in the PMS2 gene causes HNPCC4. For a more complete discussion of the molecular genetics of HNPCC4, see 600259.
Population Genetics
Among 12 presumably unrelated probands with HNPCC in whom Clendenning et al. (2008) identified a heterozygous insertion/deletion mutation in the PMS2 gene (600259.0015), family history suggested reduced penetrance. Mean age at diagnosis among probands was 52 years. Haplotype analysis indicated a common founder, and the age of the mutation was estimated at 1,625 years, suggesting that this indel mutation arose sometime during the first millennium. The mutation was enriched in patients of British and Swedish ancestry.
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: Dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: Luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone-binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
*[FSH]: Follicle-stimulating hormone
*[HHAT]: hedgehog acyltransferase
*[Hh]: Hedgehog
*[ABS]: amniotic band syndrome
| COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 4 | c1333990 | 30,224 | omim | https://www.omim.org/entry/614337 | 2019-09-22T15:55:39 | {"doid": ["0070275"], "mesh": ["D003123"], "omim": ["614337"], "orphanet": ["144"]} |
A number sign (#) is used with this entry because nephrotic syndrome type 9 (NPHS9) is caused by homozygous or compound heterozygous mutation in the ADCK4 gene (COQ8B; 615567) on chromosome 19q13.
Description
Nephrotic syndrome type 9 (NPHS9) is an autosomal recessive chronic kidney disorder characterized by significant proteinuria resulting in hypoalbuminemia and edema. Onset is in the first or second decade of life. The disorder is steroid treatment-resistant and usually progresses to end-stage renal disease requiring transplantation. Renal biopsy shows focal segmental glomerulosclerosis (FSGS) or collapsing FSGS (summary by Ashraf et al., 2013).
For a general phenotypic description and a discussion of genetic heterogeneity of nephrotic syndrome and FSGS, see NPHS1 (256300).
Clinical Features
Ashraf et al. (2013) reported 15 patients from 8 unrelated families with steroid-resistant nephrotic syndrome. Disease onset was typically between ages 10 and 20 years, although several had earlier onset, including 1 patient with onset in the first year of life. Histology showed focal segmental glomerulosclerosis (FSGS) or collapsing FSGS, and electron microscopy showed effacement of the foot processes of podocytes. One patient was treated with high-dose CoQ10 supplementation, in addition to other medications, which resulted in some clinical improvement in renal function.
Molecular Genetics
In 15 patients from 8 unrelated families with steroid-resistant nephrotic syndrome, Ashraf et al. (2013) identified 11 different mutations in the ADCK4 gene (see, e.g., 615567.0001-615567.0007). All mutations occurred in the homozygous or compound heterozygous state and segregated with the disorder in the families. The mutation in the first family was found by homozygosity mapping combined with whole-exome sequencing; subsequent mutations were found by whole-exome sequencing in 6 additional families. The final patient was identified from a cohort of 400 individuals with steroid-resistant nephrotic syndrome who underwent next-generation sequencing. Patient-derived cells showed CoQ10 deficiency and reduced mitochondrial respiratory enzyme activity. Ashraf et al. (2013) demonstrated that the ADCK4 protein localizes to the mitochondria and foot processes in podocytes, as well as to proximal tubules and collecting ducts in the kidney. Ashraf et al. (2013) concluded that a loss of ADCK4 function was responsible for the phenotype.
Animal Model
Ashraf et al. (2013) found that morpholino-mediated knockdown of Adck4 in zebrafish caused a nephrosis phenotype characterized by proteinuria and periorbital and total body edema. Transmission electron microscopy of mutant zebrafish kidneys revealed effacement and disorganization of podocyte foot processes, rarefaction of slit membranes, and disorganized glomerular basement membranes. Knockdown of the Drosophila ortholog of ADCK4 had similar effects.
INHERITANCE \- Autosomal recessive GENITOURINARY Kidneys \- Proteinuria \- Nephrotic syndrome, steroid-resistant \- Chronic renal failure \- End-stage kidney disease \- Focal segmental glomerulosclerosis (FSGS) \- Collapsing FSGS \- Effacement of the foot processes of the podocyte MUSCLE, SOFT TISSUES \- Edema LABORATORY ABNORMALITIES \- Proteinuria \- Hypoalbuminemia \- Decreased CoQ10 levels in lymphoblasts or fibroblasts \- Defective mitochondrial respiratory enzyme activity MISCELLANEOUS \- Onset in the first or second decades \- Progressive disorder \- One patient has had favorable response to high dose coenzyme Q10 supplementation in combination with other medications MOLECULAR BASIS \- Caused by mutation in the AARF domain-containing kinase 4 gene (ADCK4, 615567.0001 ) ▲ Close
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: Dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: Luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone-binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
*[FSH]: Follicle-stimulating hormone
*[HHAT]: hedgehog acyltransferase
*[Hh]: Hedgehog
*[ABS]: amniotic band syndrome
| NEPHROTIC SYNDROME, TYPE 9 | c1868672 | 30,225 | omim | https://www.omim.org/entry/615573 | 2019-09-22T15:51:37 | {"doid": ["0080391"], "mesh": ["C536404"], "omim": ["615573"], "orphanet": ["656"]} |
A number sign (#) is used with this entry because of evidence that autosomal recessive deafness-101 (DFNB101) is caused by homozygous mutation in the GRXCR2 gene (615762) on chromosome 5q32. One such family has been reported.
Clinical Features
Imtiaz et al. (2014) reported 3 sibs, born of consanguineous Pakistani parents, with onset of nonsyndromic bilateral moderate to severe sensorineural hearing loss between ages 2 and 4 years. Vestibular function was unaffected.
Inheritance
The transmission pattern of DFNB101 in the family reported by Imtiaz et al. (2014) was consistent with autosomal recessive inheritance.
Molecular Genetics
In 3 sibs, born of consanguineous Pakistani parents, with DFNB101, Imtiaz et al. (2014) identified a homozygous loss-of-function mutation in the GRXCR2 gene (615762.0001) by a combination of linkage analysis and exome sequencing. Mutations in the GRXCR2 gene were not found in the remaining 79 consanguineous families or in 55 individuals born of consanguineous parents with hearing loss that were studied.
Animal Model
Avenarius (2012) reported that Grxcr2 was expressed in sensory hair cells in the cochlea and vestibular organ in mouse. Grxcr2 protein localized along the length of stereocilia. Avenarius (2012) found that Grxcr2 -/- mice appeared normal at postnatal week 2 but developed progressive hearing loss associated with early defects in orientation and organization of cochlear stereocilia bundles. Grxcr2 -/- mice had normal vestibular function.
INHERITANCE \- Autosomal recessive HEAD & NECK Ears \- Hearing loss, sensorineural, bilateral, moderate-to-severe MISCELLANEOUS \- Onset between 2 and 4 years of age \- One consanguineous family has been reported (last curated June 2014) MOLECULAR BASIS \- Caused by mutation in the glutaredoxin, cysteine-rich, 2 gene (GRXCR2, 615762.0001 ) ▲ Close
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: Dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: Luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone-binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
*[FSH]: Follicle-stimulating hormone
*[HHAT]: hedgehog acyltransferase
*[Hh]: Hedgehog
*[ABS]: amniotic band syndrome
| DEAFNESS, AUTOSOMAL RECESSIVE 101 | c3892049 | 30,226 | omim | https://www.omim.org/entry/615837 | 2019-09-22T15:50:51 | {"doid": ["0110462"], "omim": ["615837"], "orphanet": ["90636"], "synonyms": ["Autosomal recessive isolated neurosensory deafness type DFNB", "Autosomal recessive isolated sensorineural deafness type DFNB", "Autosomal recessive non-syndromic neurosensory deafness type DFNB"]} |
Isolated lissencephaly type 1 without known genetic defects belongs to the genetically heterogeneous group, classic lissencephaly (see this term). It is a diagnosis of exclusion, when neither associated malformations nor family history are present, and in the absence of mutations of genes known to be involved in classic lissencephaly. Clinically patients present with the common features of classic lissencephaly such as developmental delay, intellectual disability, and seizures.
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: Dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: Luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone-binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
*[FSH]: Follicle-stimulating hormone
*[HHAT]: hedgehog acyltransferase
*[Hh]: Hedgehog
*[ABS]: amniotic band syndrome
| Isolated lissencephaly type 1 without known genetic defects | None | 30,227 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=1084 | 2021-01-23T17:21:31 | {"icd-10": ["Q04.3"]} |
This article needs additional citations for verification. Please help improve this article by adding citations to reliable sources. Unsourced material may be challenged and removed.
Find sources: "Drug-induced pigmentation" – news · newspapers · books · scholar · JSTOR (September 2018) (Learn how and when to remove this template message)
Drug induced pigmentation may take on many different appearances, one of the most common being a change in the color, or pigmentation, of the skin.
## Contents
* 1 Presentation
* 2 Cause
* 3 Pathophysiology
* 4 See also
* 5 References
* 6 External links
## Presentation[edit]
Drug/Drug Group Clinical Features }[1]
NSAIDs Purple, red, yellow, slate, or blue-grey pigmented macules on the extremities and trunk – drug eruption
Antimalarials Blue-ish pigmentation of lower extremities, but can also involve the entire nail bed, nose, cheeks, forehead, ears, and oral mucosa
Psychotropic Drugs Blue-gray pigmentation on sun-exposed areas
Amiodarone Blue-gray pigmentation on sun exposed areas and yellow stippling of cornea
Tetracyclines Brown pigmentation, most often on teeth
Heavy Metals Gold – blue-gray pigmentation on sun-exposed areas, Silver – Silver granules in skin, nails, mucous membranes
Cytotoxic drug Variable by molecule
## Cause[edit]
Drug-induced pigmentation of the skin may occur as a consequence of drug administration, and the mechanism may be postinflammatory hyperpigmentation in some cases, but frequently is related to actual deposition of the offending drug in the skin.[2]:125–6The incidence of this change varies, and depends on the type of medication involved. Some of the most common drugs involved are NSAIDs, antimalarials, psychotropic drugs, Amiodarone, cytotoxic drugs, tetracyclines, and heavy metals such as silver and gold (which must be ingested, not just worn).[1]
## Pathophysiology[edit]
There are 4 possible mechanisms to how this change may occur:[1]
1. Accumulation of melanin, the skin pigment
2. Accumulation of drug or one of its products under any layer of the skin (usually the dermis or epidermis)
3. Accumulation of iron throughout the dermis from drug-induced post-inflammatory changes
4. The synthesis of special pigments, under direct influence of the drug
## See also[edit]
* Skin lesion
## References[edit]
1. ^ a b c Dereure, O. (2001). Drug-Induced Skin Pigmentation: Epidemiology, Diagnosis and Treatment. American Journal of Clinical Dermotology, 2(4), 253-262.
2. ^ James, William; Berger, Timothy; Elston, Dirk (2005). Andrews' Diseases of the Skin: Clinical Dermatology. (10th ed.). Saunders. ISBN 0-7216-2921-0.
## External links[edit]
Classification
D
External resources
* eMedicine: article/1069686
* v
* t
* e
Pigmentation disorders/Dyschromia
Hypo-/
leucism
Loss of
melanocytes
Vitiligo
* Quadrichrome vitiligo
* Vitiligo ponctué
Syndromic
* Alezzandrini syndrome
* Vogt–Koyanagi–Harada syndrome
Melanocyte
development
* Piebaldism
* Waardenburg syndrome
* Tietz syndrome
Loss of melanin/
amelanism
Albinism
* Oculocutaneous albinism
* Ocular albinism
Melanosome
transfer
* Hermansky–Pudlak syndrome
* Chédiak–Higashi syndrome
* Griscelli syndrome
* Elejalde syndrome
* Griscelli syndrome type 2
* Griscelli syndrome type 3
Other
* Cross syndrome
* ABCD syndrome
* Albinism–deafness syndrome
* Idiopathic guttate hypomelanosis
* Phylloid hypomelanosis
* Progressive macular hypomelanosis
Leukoderma w/o
hypomelanosis
* Vasospastic macule
* Woronoff's ring
* Nevus anemicus
Ungrouped
* Nevus depigmentosus
* Postinflammatory hypopigmentation
* Pityriasis alba
* Vagabond's leukomelanoderma
* Yemenite deaf-blind hypopigmentation syndrome
* Wende–Bauckus syndrome
Hyper-
Melanin/
Melanosis/
Melanism
Reticulated
* Dermatopathia pigmentosa reticularis
* Pigmentatio reticularis faciei et colli
* Reticulate acropigmentation of Kitamura
* Reticular pigmented anomaly of the flexures
* Naegeli–Franceschetti–Jadassohn syndrome
* Dyskeratosis congenita
* X-linked reticulate pigmentary disorder
* Galli–Galli disease
* Revesz syndrome
Diffuse/
circumscribed
* Lentigo/Lentiginosis: Lentigo simplex
* Liver spot
* Centrofacial lentiginosis
* Generalized lentiginosis
* Inherited patterned lentiginosis in black persons
* Ink spot lentigo
* Lentigo maligna
* Mucosal lentigines
* Partial unilateral lentiginosis
* PUVA lentigines
* Melasma
* Erythema dyschromicum perstans
* Lichen planus pigmentosus
* Café au lait spot
* Poikiloderma (Poikiloderma of Civatte
* Poikiloderma vasculare atrophicans)
* Riehl melanosis
Linear
* Incontinentia pigmenti
* Scratch dermatitis
* Shiitake mushroom dermatitis
Other/
ungrouped
* Acanthosis nigricans
* Freckle
* Familial progressive hyperpigmentation
* Pallister–Killian syndrome
* Periorbital hyperpigmentation
* Photoleukomelanodermatitis of Kobori
* Postinflammatory hyperpigmentation
* Transient neonatal pustular melanosis
Other
pigments
Iron
* Hemochromatosis
* Iron metallic discoloration
* Pigmented purpuric dermatosis
* Schamberg disease
* Majocchi's disease
* Gougerot–Blum syndrome
* Doucas and Kapetanakis pigmented purpura/Eczematid-like purpura of Doucas and Kapetanakis
* Lichen aureus
* Angioma serpiginosum
* Hemosiderin hyperpigmentation
Other
metals
* Argyria
* Chrysiasis
* Arsenic poisoning
* Lead poisoning
* Titanium metallic discoloration
Other
* Carotenosis
* Tar melanosis
Dyschromia
* Dyschromatosis symmetrica hereditaria
* Dyschromatosis universalis hereditaria
See also
* Skin color
* Skin whitening
* Tanning
* Sunless
* Tattoo
* removal
* Depigmentation
This cutaneous condition article is a stub. You can help Wikipedia by expanding it.
* v
* t
* e
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: Dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: Luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone-binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
*[FSH]: Follicle-stimulating hormone
*[HHAT]: hedgehog acyltransferase
*[Hh]: Hedgehog
*[ABS]: amniotic band syndrome
| Drug-induced pigmentation | c0406698 | 30,228 | wikipedia | https://en.wikipedia.org/wiki/Drug-induced_pigmentation | 2021-01-18T18:43:17 | {"umls": ["C0406698"], "wikidata": ["Q5308816"]} |
Ectasia of the right atrial appendage is a rare cardiac malformation characterized by the enlargement of the right auricle without any other associated cardiac lesions. It can be asymptomatic and diagnosed fortuitously, prenatally or during routine clinical examinations or it can present with heart murmur, palpitation, atrial arrhythmia, fatigue, dyspnea or respiratory distress.
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: Dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: Luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone-binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
*[FSH]: Follicle-stimulating hormone
*[HHAT]: hedgehog acyltransferase
*[Hh]: Hedgehog
*[ABS]: amniotic band syndrome
| Ectasia of the right atrial appendage | None | 30,229 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=99101 | 2021-01-23T18:57:44 | {"icd-10": ["Q20.8"], "synonyms": ["Dilatation of the right atrial appendage", "Dilatation of the right atrial auricle", "Ectasia of the right atrial auricle"]} |
A rare hepatic disease characterized by intrahepatic cholestasis and deterioration of liver function in patients receiving parenteral nutrition for extended periods of time (signs may appear as early as within the first two weeks of initiation of parenteral nutrition). The condition commonly occurs in neonates and usually resolves with transition to enteral feeding, although severe cases may progress to liver fibrosis, cirrhosis, and portal hypertension.
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: Dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: Luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone-binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
*[FSH]: Follicle-stimulating hormone
*[HHAT]: hedgehog acyltransferase
*[Hh]: Hedgehog
*[ABS]: amniotic band syndrome
| Parenteral nutrition-associated cholestasis | None | 30,230 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=567983 | 2021-01-23T17:55:02 | {"synonyms": ["PNAC"]} |
## Summary
### Clinical characteristics.
KCNQ3-related disorders include benign familial neonatal epilepsy (BFNE) and benign familial infantile epilepsy (BFIE), seizure disorders that occur in children who typically have normal psychomotor development. An additional KCNQ3-related disorder involves developmental disability.
* In BFNE seizures begin in an otherwise healthy infant between days two and eight of life and spontaneously disappear between the first and the sixth to 12th month of life. Seizures are generally brief, lasting one to two minutes. Seizure types include tonic or apneic episodes, focal clonic activity, and autonomic changes. Motor activity may be confined to one body part, migrate to other regions, or generalize. Infants are well between seizures and feed normally.
* In BFIE seizures start in the first year of life, beyond the neonatal period, and disappear after age one to two years. Seizures are generally brief, lasting two minutes; they appear as daily repeated clusters. Seizure type is usually focal, but can be also generalized, causing diffuse hypertonia with jerks of the limbs, head deviation, or motor arrest with unconsciousness and cyanosis. Infants are normal between seizures and psychomotor development is usually normal.
* In the KCNQ3-related developmental disability phenotype, individuals present with intellectual disability with or without seizures and/or cortical visual impairment. As little clinical information on these individuals is available, the clinical presentation of KCNQ3-related developmental disability remains to be defined.
### Diagnosis/testing.
The diagnosis of a KCNQ3-related disorder is established in an individual with typical clinical findings and the presence of a heterozygous pathogenic variant in KCNQ3.
### Management.
Treatment of manifestations: The seizures of BFNE are generally controlled with antiepileptic drugs (AEDs) including phenobarbital and phenytoin or carbamazepine, which are usually withdrawn at age three to six months. The seizures of BFIE are usually completely controlled with adequate doses of phenobarbital, carbamazepine, or valproate. In the rare instance of seizure recurrence, the starting dose of AED is often low. AEDs are usually withdrawn after one to three years. KCNQ3-related developmental disability is managed using standard evaluations, therapies, and educational support tailored to the individual’s needs.
Surveillance: In children with BFNE, EEGs at age three, 12, and 24 months are recommended; the EEG at 24 months should be normal. In children with BFIE, EEGs at onset, 12, 24 and 36 months are recommended; the EEG at 36 months should be normal.
Pregnancy management: The management of a pregnant woman with a KCNQ3 pathogenic variant is the same as that for any other pregnant woman with a seizure disorder or at increased risk for a seizure disorder: (a) no AEDs are required if the woman has been seizure-free or if the woman has no history of seizures; and (b) AEDs may be continued for epilepsy that is active during pregnancy.
### Genetic counseling.
The KCNQ3-related disorders BFNE and BFIE are inherited in an autosomal dominant manner and most individuals diagnosed with KCNQ3-related BFNE and KCNQ3-related BFIE have an affected parent or a parent known to have been symptomatic in infancy. In contrast, all individuals with KCNQ3-related developmental disability reported to date have the disorder as the result of a de novo KCNQ3 pathogenic variant. Each child of an individual with BFNE or BFIE has a 50% chance of inheriting the pathogenic variant. If the KCNQ3 pathogenic variant has been identified in an affected family member, prenatal testing for a pregnancy at increased risk is possible.
## Diagnosis
KCNQ3-related benign familial neonatal epilepsy (BFNE) and benign familial infantile epilepsy (BFIE) are epilepsy syndromes associated with a structurally normal brain and mostly normal neurologic findings and psychomotor development. Additionally, pathogenic variants in KCNQ3 have been described in individuals with nonfamilial disabilities, including epileptic encephalopathy, intellectual disability apparently without epilepsy, and intellectual disability with seizures and cortical visual impairment.
### Suggestive Findings
KCNQ3-related benign familial neonatal epilepsy (BFNE) and benign familial infantile epilepsy (BFIE) should be suspected in individuals with the following findings.
Benign familial neonatal epilepsy (BFNE)
* Seizures starting in an otherwise healthy infant between days two and eight of life and spontaneously disappearing between the first and the sixth to12th month of life
* Normal physical examination and laboratory tests prior to onset of seizures, between seizure episodes, and following cessation of seizures
* No specific EEG criteria, but EEG background is normal or near normal for age
* Family history of the same findings usually present
Seizure features include the following [ILAE 1989, Ronen et al 1993, Engel 2001]:
* A wide spectrum of seizure types, encompassing tonic or apneic episodes, focal tonic (stiffening) or clonic (rhythmic shaking) activity, or autonomic changes
* Motor activity that may be confined to one body part, migrate to other body regions, or generalize
* Seizures that are usually brief, lasting one to two minutes
* Infants who are well between seizures and feed normally
* Interictal EEG that may be normal
* Ictal EEG showing focal onset with possible secondary generalization
The diagnosis of KCNQ3-related BFNE is suspected in individuals with clinical findings consistent with BFNE and normal results on testing of KCNQ2, the main locus for BFNE (see KCNQ2-Related Disorders).
Benign familial infantile epilepsy (BFIE)
* Brief, repeated, focal, and secondarily generalized seizures occur in otherwise healthy infants; seizures occur in a rather wide time frame in the first year of life beyond the neonatal period.
* Seizures spontaneously disappear after age 1-2 years without neurologic sequelae in adulthood.
* Family history of the same findings is usually present.
The diagnosis of KCNQ3-related BFIE is suspected in individuals with clinical findings consistent with BFIE and normal results on testing of PRRT2, the main locus for BFIE (see PRRT2-Associated Paroxysmal Movement Disorders).
Developmental disability, which can present as one or more of the following:
* Epileptic encephalopathy, in which aggressive epileptogenic activity during brain maturation triggers progressive cognitive and neuropsychological deterioration or regression
* Intellectual disability apparently without epilepsy
* Intellectual disability with seizures and cortical visual impairment
Note: A few individuals presenting with the developmental disability phenotypes and a de novo pathogenic variant in KCNQ3 have been described in the literature. So far, very little clinical information on these individuals is available; thus, the clinical presentation of KCNQ3-related developmental disability remains to be defined.
### Establishing the Diagnosis
The diagnosis of a KCNQ3-related disorder is established in a proband with typical clinical findings and the identification of a heterozygous pathogenic variant in KCNQ3 by molecular genetic testing (see Table 1).
Molecular genetic testing approaches can include a combination of gene-targeted testing (single-gene testing or a multigene panel) and genomic testing (comprehensive genomic sequencing) depending on the phenotype.
Gene-targeted testing requires that the clinician determine which gene(s) are likely involved, whereas genomic testing does not. Individuals with the distinctive findings of benign familial neonatal epilepsy (BFNE) or benign familial infantile epilepsy (BFIE) as described in Suggestive Findings are likely to be diagnosed using gene-targeted testing (see Option 1). Because the phenotypic range of the KCNQ3-related developmental disorders is, at present, broad and somewhat nonspecific, this is more likely to be diagnosed using genomic testing (see Option 2).
#### Option 1
When the phenotypic and laboratory findings suggest the diagnosis of KCNQ3-related BFNE or BFIE, molecular genetic testing approaches can include single-gene testing or use of a multigene panel.
Single-gene testing. This approach could be used for individuals who present with the BFNE or BFIE phenotype and have previously tested negative for pathogenic variants in KCNQ2 or PRRT2, respectively. Sequence analysis of KCNQ3 is performed first, and followed by gene-targeted deletion/duplication analysis if no pathogenic variant is found.
* Note: KCNQ3-related disorders have to date been associated in nearly all cases with missense variants. A large intragenic deletion has been reported in only one family with BFNE [Sands et al 2016] ; therefore, testing for intragenic deletions or duplication is unlikely to identify a disease-causing variant.
For those who have had no previous molecular genetic testing, the authors recommend using a multigene panel or more comprehensive testing whenever possible, given the lack of features to distinguish between the different gene-related forms of BFNE and BFIE.
For an individual with developmental delay, there are no features to distinguish KCNQ3-related developmental disability from the same findings associated with any one of numerous other genes; thus, single-gene testing is not recommended.
A multigene panel that includes KCNQ3 and other genes of interest (see Differential Diagnosis) may be considered. Note: (1) The genes included in the panel and the diagnostic sensitivity of the testing used for each gene vary by laboratory and over time. (2) Some multigene panels may include genes not associated with the condition discussed in this GeneReview; thus, clinicians need to determine which multigene panel is most likely to identify the genetic cause of the condition at the most reasonable cost while limiting identification of variants of uncertain significance and pathogenic variants in genes that do not explain the underlying phenotype. (3) In some laboratories, panel options may include a custom laboratory-designed panel and/or custom phenotype-focused exome analysis that includes genes specified by the clinician. (4) Methods used in a panel may include sequence analysis, deletion/duplication analysis, and/or other non-sequencing-based tests.
For an introduction to multigene panels click here. More detailed information for clinicians ordering genetic tests can be found here.
#### Option 2
When the phenotype is indistinguishable from many other inherited disorders with developmental disability, molecular genetic testing approaches can include genomic testing (comprehensive genomic sequencing; recommended) and/or gene-targeted testing (multigene panel; to consider).
* Comprehensive genomic testing (when clinically available) includes exome sequencing and genome sequencing.
For an introduction to comprehensive genomic testing click here. More detailed information for clinicians ordering genomic testing can be found here.
* A multigene panel for disorders associated with developmental disability that includes KCNQ3 and other genes of interest (see Differential Diagnosis) may be considered; however, given the rarity of KCNQ3-related disorder, many panels for developmental disability may not include this gene.
### Table 1.
Molecular Genetic Testing Used in KCNQ3-Related Disorders
View in own window
Gene 1MethodProportion of Probands with a Pathogenic Variant 2 Detectable by Method
KCNQ3Sequence analysis 322/23 4
Gene-targeted deletion/duplication analysis 51/23 6
1\.
See Table A. Genes and Databases for chromosome locus and protein.
2\.
See Molecular Genetics for information on allelic variants detected in this gene.
3\.
Sequence analysis detects variants that are benign, likely benign, of uncertain significance, likely pathogenic, or pathogenic. Variants may include small intragenic deletions/insertions and missense, nonsense, and splice site variants; typically, exon or whole-gene deletions/duplications are not detected. For issues to consider in interpretation of sequence analysis results, click here.
4\.
Charlier et al [1998], Hirose et al [2000], Singh et al [2003], Li et al [2006], Li et al [2008], Neubauer et al [2008], Fister et al [2013], Zara et al [2013], Soldovieri et al [2014], Allen et al [2014], Fusco et al [2015], Grinton et al [2015], Miceli et al [2015b], Maljevic et al [2016], Millichap et al [2016], Sands et al [2016], Olson et al [2017]
5\.
Gene-targeted deletion/duplication analysis detects intragenic deletions or duplications. Methods used may include quantitative PCR, long-range PCR, multiplex ligation-dependent probe amplification (MLPA), and a gene-targeted microarray designed to detect single-exon deletions or duplications.
6\.
Sands et al [2016] reported an individual with BFNE who had a deletion of exons 1-15 in KCNQ3.
## Clinical Characteristics
### Clinical Description
The KCNQ3-related disorders include benign familial neonatal epilepsy (BFNE) and benign familial infantile epilepsy (BFIE), seizure disorders that occur in children who have structurally normal brains, normal interictal neurologic examinations, and normal psychomotor development. A more recently reported KCNQ3-related disorder is associated with a developmental disability phenotype.
KCNQ3-related benign familial neonatal epilepsy (BFNE) is characterized by seizures that start in an otherwise healthy infant between days two and eight of life and spontaneously disappear between age one month and age six to 12 months. Seizures are generally brief, lasting one to two minutes. Seizure types include tonic or apneic episodes, focal clonic activity, and autonomic changes. Motor activity may be confined to one body part, migrate to other regions, or generalize.
Infants are well between seizures and feed normally. Psychomotor development is usually normal. However, two individuals within the family with KCNQ3-related BFNE described by Soldovieri et al [2014] and three individuals in the family described by Miceli et al [2015b] showed (in addition to seizures) intellectual disability. Notably, although intellectual and/or language developmental delay has not been thought characteristic of BFNE, some recent reports highlight evidence for such variable expressivity in KCNQ2-related BFNE pedigrees as well [Millichap et al 2016, Al Yazidi et al 2017, Hewson et al 2017].
KCNQ3-related benign familial infantile epilepsy (BFIE) is characterized by seizures that start in the first year of life, beyond the neonatal period, and disappear after age one to two years. Seizures are generally brief, lasting about two minutes; they appear as daily repeated clusters. Seizure type is usually focal, but can be also generalized, causing diffuse hypertonia with jerks of the limbs, head deviation, or motor arrest with unconsciousness and cyanosis. Infants are normal between seizures and psychomotor development is usually normal.
KCNQ3-related developmental disability. Recent efforts to identify genetic contributions in a diversity of neurodevelopmental disorders using exome sequencing have identified a small number of individuals with de novo pathogenic missense variants in KCNQ3 [Allen et al 2013, McRae et al 2017]. Very little clinical information on these individuals is provided in these reports, but presentations include epileptic encephalopathy with progressive cognitive and neuropsychological deterioration or regression, intellectual disability without epilpesy, and intellectual disability with seizures and cortical visual impairment.
Note: During the same recent period, more than 100 individuals with developmental disability and missense variants in the close homolog, KCNQ2, have been described [Millichap et al 2016, Olson et al 2017]. Owing to very low numbers and incomplete phenotypic descriptions available to date, it may be suspected that pathogenic variants in KCNQ3 are very rare causes of developmental disability, but more detailed reporting of additional affected individuals is needed to clarify this.
### Genotype-Phenotype Correlations
Because relatively few families heterozygous for a KCNQ3 variant have been reported to date, genotype-phenotype correlations are difficult to establish. In fact, no obvious phenotypic difference is seen between those families with variants that cause a 20%-40% reduction in KCNQ3 function and those that cause a more than 60% reduction in KCNQ3 function (see Molecular Pathogenesis).
Notably, four different studies have identified the p.Arg230Cys variant in children with developmental disability, apparently both with and without epilepsy [Rauch et al 2012, Allen et al 2013, Bosch et al 2016, McRae et al 2017].
See Table 2 for available genotype-phenotype information.
### Penetrance
In KCNQ3-related BFNE, penetrance is incomplete (0.8-0.85): BFNE is found in 47 of 54 individuals with a KCNQ3 pathogenic variant [Charlier et al 1998, Hirose et al 2000, Singh et al 2003, Li et al 2006, Li et al 2008, Neubauer et al 2008, Fister et al 2013, Allen et al 2014, Soldovieri et al 2014, Grinton et al 2015, Miceli et al 2015b, Maljevic et al 2016, Sands et al 2016].
The finding of incomplete penetrance in KCNQ3-related BFNE and BFIE may result from failure to recognize the seizures (which can be brief and disappear spontaneously very soon after onset) in some individuals.
Penetrance has not been studied in KCNQ3-related developmental disability as few individuals have been reported, and those reported have had a de novo pathogenic variant. As in other severe developmental disorders, including KCNQ2-related epileptic encephalopathy, pathogenic variants are judged likely to be fully penetrant. Evidence for this comes by analogy from KCNQ2 pedigrees where parents who have postzygotic mosaicism for a pathogenic variant are asymptomatic or have mild symptoms similar to BFNE, but their heterozygous offspring have epileptic encephalopathy [Weckhuysen et al 2012, Milh et al 2015].
### Nomenclature
Rett & Teubel [1964] were the first to report familial occurrence of neonatal seizures of presumed genetic (rather than acquired) origin. To highlight the mostly favorable outcome of the syndrome, the term "benign" was added to "familial neonatal convulsions" four years later by Bjerre & Corelius [1968]. Terminology was further revised to benign familial neonatal epilepsy (BFNE) to reflect the fact that the seizures were often focal and for consistency with naming of other epilepsy syndromes [Berg et al 2010].
### Prevalence
Fewer than twenty families with BFNE (54 individuals) with a heterozygous KCNQ3 pathogenic variant have been reported to date [Charlier et al 1998, Hirose et al 2000, Singh et al 2003, Li et al 2006, Li et al 2008, Neubauer et al 2008, Fister et al 2013, Allen et al 2014, Soldovieri et al 2014, Grinton et al 2015, Miceli et al 2015b, Maljevic et al 2016, Sands et al 2016].
Only three families with BFIE (7 individuals) with a heterozygous KCNQ3 pathogenic variant have been reported to date [Singh et al 2003, Zara et al 2013, Fusco et al 2015].
The percentage of families with BFNE who have pathogenic variants in KCNQ3 is likely less than 5%, as KCNQ2 is the main locus for BFNE, accounting for more than 70% of cases (see KCNQ2-Related Disorders). No data on the prevalence of KCNQ3 pathogenic variants in BFIE are available; nevertheless, this figure is likely to be small given that another gene (PRRT2) is the main locus for BFIE.
## Differential Diagnosis
The differential diagnosis of KCNQ3-related neurologic disorders includes the differential diagnosis for benign familial neonatal epilepsy (BFNE), benign familial infantile epilepsy (BFIE), and developmental disability.
### Benign Familial Neonatal Epilepsy (BFNE)
The diagnosis of BFNE requires the absence of any other explanation for the seizures. No specific EEG trait characterizes BFNE during neonatal seizures; the interictal EEG is most commonly normal (50%-70% of infants).
Laboratory tests and imaging studies are important to exclude other possible causes for the seizures including those without a genetic etiology. It is important not to miss a diagnosis of a treatable meningoencephalitis in the early stages or of intracranial hemorrhage – for either, neonates do not exhibit the typical findings observed in older infants and children, and seizures may be the only early manifestation.
The following laboratory, imaging, and instrumental studies may be helpful for the differential diagnosis.
To detect infection or bleeding disorder:
* Basic hematologic labs. CBC, prothrombin time, activated partial thromboplastin time
* Lumbar puncture. Cerebrospinal fluid examination to exclude neonatal meningoencephalitis or occult blood
* MRI or CT scan of the brain. One or both of these tests should be performed in every individual with neonatal seizures to exclude structural lesions and intracranial hemorrhage.
To detect a biochemical disorder:
* Basic metabolic panel plus serum concentration of calcium, magnesium, phosphorus
* Evaluation of alpha-AASA levels in serum and urine as a biomarker of pyridoxine (vitamin B6)-dependent seizures, a rare genetic disorder of vitamin B6 metabolism caused by pathogenic variants in ALDH7A1 and characterized by neonatal-onset seizures that are resistant to common anticonvulsants, but controlled by daily treatment with vitamin B6
* Thyroid function tests, as neonatal hyperthyroid state and thyrotoxicosis may be associated with excessive tremor and jitteriness ‒ clinical conditions which should be differentiated from seizures
Genetic testing. The most common cause of BFNE is a heterozygous pathogenic variant in KCNQ2 which – like KCNQ3 – encodes voltage-gated potassium channel subunits (see KCNQ2-Related Disorders). The frequency of KCNQ2 pathogenic variants as a cause of BFNE is more than tenfold that of KCNQ3 pathogenic variants.
Because the clinical characteristics of BFNE caused by a heterozygous pathogenic variant of KCNQ2 or KCNQ3 do not appear to differ, molecular genetic testing of both genes is commonly performed when BFNE is suspected.
### Benign Familial Infantile Epilepsy (BFIE)
BFIE is genetically distinct from BFNE, with at least three loci additional to KCNQ3 being involved.
* In the largest fraction of affected families, the associated gene is PRRT2, a presynaptic protein interacting with SNAP-25 [Heron et al 2012, Zara et al 2013] (see PRRT2-Associated Paroxysmal Movement Disorders). Whereas some patients with pathogenic variants in PRRT2 develop paroxysmal kinesigenic dyskinesia later in life, clinical characteristics early in life do not differ from BFIE caused by pathogenic variants in KCNQ3.
* Less commonly, the associated gene is SCN2A, encoding one of the main pore-forming subunits of neuronal voltage-gated sodium channels [Striano et al 2006] (OMIM 607745). The clinical characteristics do not differ from those of KCNQ3-related BFIE.
* Additional families with a comparable phenotype show linkage to 19q12-q13.1 [Guipponi et al 1997]. The responsible gene is as yet unknown.
### Developmental Disability
Phenotypic features associated with KCNQ3 pathogenic variants are so far not sufficiently defined to diagnose a KCNQ3-related disorder with a developmental disability phenotype. Therefore, all genes known to be associated with developmental disability (>180 have been identified) should be included in the differential diagnosis of KCNQ3-related disorders. Since the pathogenic variants associated with this specific KCNQ3-related phenotype are de novo (and thus have a negative family history), all inheritance patterns of developmental disability could be possible. See OMIM Phenotypic Series:
* Intellectual disability, autosomal dominant
* Intellectual disability, autosomal recessive
* Intellectual disability, nonsyndromic, X-linked
## Management
### Evaluations Following Initial Diagnosis
To establish the extent of disease and needs in an individual diagnosed with a KCNQ3-related disorder, the following evaluations are recommended:
* In-depth neurologic examination
* Developmental evaluation
* Consultation with a clinical geneticist and/or genetic counselor
### Treatment of Manifestations
Benign familial neonatal epilepsy (BFNE). The seizures of BFNE are generally controlled with conventional antiepileptic treatment. Phenobarbital and phenytoin (loading doses of 15-20 mg/kg; maintenance doses of 3-4 mg/kg for both agents) [Painter et al 1981] are the antiepileptic drugs (AEDs) most commonly used to treat neonatal seizures.
Because of concerns over the suboptimal effectiveness and safety of phenytoin and phenobarbital, other anticonvulsants (e.g., levetiracetam and topiramate) are often used in neonates with refractory seizures, despite limited data and off-label use [Tulloch et al 2012]. However, refractory seizures are uncommon in KCNQ3-related BFNE.
A recent study has been performed to evaluate treatment responses in a small cohort of 19 individuals presenting with clinical features suggestive of BFNE. All but three had family histories of neonatal seizures. Of the 19 individuals, pathogenic variants in KCNQ2 were found in 14; pathogenic variants in KCNQ3 were present in two. Seventeen (88%) of 19 individuals were seizure free within hours of receiving oral carbamazepine (CBZ) or oxcarbazepine (OXC). Earlier initiation of CBZ was associated with shorter hospitalization. No side effects of CBZ were reported. All individuals had normal development and remain seizure free at a mean follow-up period of six months to 16 years (mean: 7.8 years). The authors concluded that CBZ is safe and rapidly effective in neonates with BFNE, even in status epilepticus, and that CBZ should be the drug of choice in benign familial neonatal seizures [Sands et al 2016].
Interictal EEG is generally normal and does not influence treatment duration.
Antiepileptic drugs are usually withdrawn at age three to six months.
Benign familial infantile epilepsy (BFIE). The seizures of BFIE are usually completely controlled with the AEDs phenobarbital, carbamazepine, or valproate. If adequately treated, very few individuals show recurrent seizures; seizure recurrence is often caused by a low starting dose of AEDs.
Antiepileptic medication is usually withdrawn after one to three years with no relapses.
#### Developmental Delay / Intellectual Disability Management Issues
The following information represents typical management recommendations for individuals with developmental delay / intellectual disability in the United States; standard recommendations may vary from country to country.
Ages 0-3 years. Referral to an early intervention program is recommended for access to occupational, physical, speech, and feeding therapy. In the US, early intervention is a federally funded program available in all states.
Ages 3-5 years. In the US, developmental preschool through the local public school district is recommended. Before placement, an evaluation is made to determine needed services and therapies and an individualized education plan (IEP) is developed.
Ages 5-21 years
* In the US, an IEP based on the individual’s level of function should be developed by the local public school district. Affected children are permitted to remain in the public school district until age 21.
* Discussion about transition plans including financial, vocation/employment, and medical arrangements should begin at age 12 years. Developmental pediatricians can provide assistance with transition to adulthood.
All ages. Consultation with a developmental pediatrician is recommended to ensure the involvement of appropriate community, state, and educational agencies and to support parents in maximizing quality of life.
Consideration of private supportive therapies based on the affected individual's needs is recommended. Specific recommendations regarding type of therapy can be made by a developmental pediatrician.
In the US:
* Developmental Disabilities Administration (DDA) enrollment is recommended. DDA is a public agency that provides services and support to qualified individuals. Eligibility differs by state but is typically determined by diagnosis and/or associated cognitive/adaptive disabilities.
* Families with limited income and resources may also qualify for supplemental security income (SSI) for their child with a disability.
#### Motor Dysfunction
Gross motor dysfunction
* Physical therapy is recommended to maximize mobility and to reduce the risk for later-onset orthopedic complications (e.g., contractures, scoliosis, hip dislocation).
* Consider use of durable medical equipment as needed (e.g., wheelchairs, walkers, bath chairs, orthotics, adaptive strollers).
* For muscle tone abnormalities including hypertonia or dystonia, consider involving appropriate specialists to aid in management of baclofen, Botox®, anti-parkinsonian medications, or orthopedic procedures.
Fine motor dysfunction. Occupational therapy is recommended for difficulty with fine motor skills that affect adaptive function such as feeding, grooming, dressing, and writing.
Oral motor dysfunction. Assuming that the individual is safe to eat by mouth, feeding therapy – typically from an occupational or speech therapist – is recommended for affected individuals who have difficulty feeding due to poor oral motor control.
Communication issues. Consider evaluation for alternative means of communication (e.g., Augmentative and Alternative Communication) for individuals who have expressive language difficulties.
#### Social/Behavioral Concerns
Children may qualify for and benefit from interventions used in treatment of autism spectrum disorder, including applied behavior analysis (ABA). ABA therapy is targeted to the individual child’s behavioral, social, and adaptive strengths and weaknesses and is typically performed one on one with a board-certified behavior analyst.
Consultation with a developmental pediatrician may be helpful in guiding parents through appropriate behavior management strategies or providing prescription medications when necessary.
Concerns about serious aggressive or destructive behavior can be addressed by a pediatric psychiatrist.
### Prevention of Secondary Complications
The potential complications of the disease treatment are those related to AED use.
### Surveillance
BFNE. EEG at onset, age three, 12, and 24 months is recommended. The EEG at 24 months should be normal.
BFIE. EEG at onset, 12, 24, and 36 months is recommended. The EEG at 36 months should be normal.
### Evaluation of Relatives at Risk
See Genetic Counseling for issues related to testing of at-risk relatives for genetic counseling purposes.
### Pregnancy Management
The management of a pregnant woman with a KCNQ3 pathogenic variant is the same as that of any other pregnant woman with a history of (or at risk for) epilepsy:
* No medication is indicated if (a) the woman has been seizure free and is not taking medication or (b) the woman has no history of seizures.
* Antiepileptic drug treatment may be continued for active epilepsy during pregnancy.
* In general, women with epilepsy or a seizure disorder from any cause are at greater risk for mortality during pregnancy than pregnant women without a seizure disorder; use of antiepileptic medication during pregnancy reduces this risk. However, exposure to antiepileptic medication may increase the risk for adverse fetal outcome (depending on the drug used, the dose, and the stage of pregnancy at which medication is taken). Nevertheless, the risk of an adverse outcome to the fetus from antiepileptic medication exposure is often less than that associated with exposure to an untreated maternal seizure disorder. Therefore, use of antiepileptic medication to treat a maternal seizure disorder during pregnancy is typically recommended. Discussion of the risks and benefits of using a given antiepileptic drug during pregnancy should ideally take place prior to conception. Transitioning to a lower-risk medication prior to pregnancy may be possible [Sarma et al 2016].
* See MotherToBaby for more information on medication use during pregnancy.
### Therapies Under Investigation
The selective neuronal KCNQ potassium channel opener ezogabine (US-approved name; retigabine in the EU and Canada), an AED introduced in 2013 as adjunctive treatment of partial epilepsy in adults [Porter et al 2012], may represent a targeted therapy for KCNQ3-related seizures arising from variants that reduce channel activity. However, the discovery of additional side effects in the early post-marketing studies (blue discoloration of skin and retina) raised concerns about its use in children. Ezogabine has been commercially withdrawn as of June 2017.
Search ClinicalTrials.gov in the US and EU Clinical Trials Register in Europe for access to information on clinical studies for a wide range of diseases and conditions.
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: Dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: Luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone-binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
*[FSH]: Follicle-stimulating hormone
*[HHAT]: hedgehog acyltransferase
*[Hh]: Hedgehog
*[ABS]: amniotic band syndrome
| KCNQ3-Related Disorders | None | 30,231 | gene_reviews | https://www.ncbi.nlm.nih.gov/books/NBK201978/ | 2021-01-18T21:16:39 | {"synonyms": []} |
A number sign (#) is used with this entry because of evidence that nongoitrous congenital hypothyroidism-6 (CHNG6) is caused by heterozygous mutation in the THRA gene (190120) on chromosome 17q21.
For a general phenotypic description and a discussion of genetic heterogeneity of congenital nongoitrous hypothyroidism, see 275200.
Clinical Features
Bochukova et al. (2012) described a 6-year-old girl, born of unrelated parents of white European origin, who presented with growth retardation. At 18 months of age, her height was in the tenth percentile, and the deficit persisted; in addition, she had decreased subischial leg length with a normal sitting height. Tooth eruption was delayed: she had no teeth at 12 months of age, only 8 deciduous teeth at 26 months, and no secondary dentition at 6 years of age. She had a borderline-high body mass index (23.5), and severe constipation had been noted since weaning at the age of 7 months. Mild hypermobility and ligamentous laxity was present in the ankle and knee. Muscle tone was reduced with normal power but with impairment in gross and fine motor coordination, resulting in a slow broad-based gait, clumsiness, and difficulty with fine motor skills, including an inability to write or draw. Her affect was placid, with slow monotonous speech, but with no receptive or expressive deficit. Neuropsychologic assessment showed restricted adaptive behavior and significant impairments in selected cognitive domains. Laboratory analysis revealed low-normal or subnormal levels of total thyroxine and free thyroxine, high-normal or elevated levels of total triiodothyronine and free triiodothyronine, and normal levels of thyroid stimulating hormone (TSH), resulting in markedly subnormal ratios of free thyroxine to free triiodothyronine and of total thyroxine to total triiodothyronine with a very low level of circulating reverse triiodothyronine. The level of serum thyroxine-binding globulin was normal. Skeletal radiographs showed delayed fusion of cranial sutures with a patent anterior fontanel, multiple wormian bones, and delayed tooth eruption, together with femoral epiphyseal dysgenesis and delayed bone age (chronologic age, 6.3 years; bone age, 2.9 years). Abdominal radiography revealed bowel dilatation with abnormal retention of ingested marker pellets, confirming delayed intestinal transit. The child had a low resting heart rate and blood pressure, of 71 bpm and 82/51 mm Hg, respectively, as well as basal metabolic rate (BMR) that was below normal. However, the level of serum sex hormone-binding globulin (SHBG; 182205), a hepatic marker of thyroid hormone action, was markedly elevated, and a normal growth hormone (139250) response to provocative testing was associated with slightly subnormal levels of insulin-like growth factor (IGF1; 147440). Thyroid replacement therapy led to normalization of free thyroxine, free triiodothyronine, and IGF1, with full suppression of TSH and normalization of her BMR, but she continued to have a high level of sex hormone-binding globulin, and her pulse rate and blood pressure remained abnormally low, as did the growth rate and intestinal transit time.
Van Mullem et al. (2012) reported a father and daughter with congenital hypothyroidism. The daughter was an 11-year-old girl who in the first 3 years of life had macroglossia, omphalocele, congenital hip dislocation, no hip ossification centers, delayed closure of skull sutures, delayed tooth eruption, delayed motor development, and macrocephaly. She had low levels of free thyroxine (T4) with normal levels of TSH. Evaluation at 6 years of age for short stature showed delayed bone age, and she was found to have low-normal IGF1 and high cholesterol levels in addition to abnormal levels of thyroid hormone. Hypothyroidism was clinically apparent, with dry skin, slow tendon reflexes, slow reactions, and drowsiness. Treatment with levothyroxine resulted in initial catch-up growth and decreases in serum levels of TSH and cholesterol. At 8.5 years of age, her height remained 2 SD below normal, and treatment with growth hormone had little effect. At 11 years of age, her bone age was 9 years and her height was 1.81 SD below normal; she also had mild cognitive deficits with an IQ of 90. Her father had very similar characteristics, including short stature (3.77 SD below normal), free T4 in the low-normal range, high T3, and normal TSH, high cholesterol levels, IGF1 in the low-normal range, suppressed growth hormone stimulation, and mild cognitive deficits (IQ, 85). Both father and daughter had constipation when not receiving levothyroxine.
Tylki-Szymanska et al. (2015) studied 5 Polish children who presented with delayed delivery, relatively high birth weight and length, large head circumference relative to chest circumference, and floppiness. All exhibited a similar clinical phenotype that included growth retardation with relatively short limbs, hands, and feet and long thorax; mild to moderate mental retardation; mild skeletal dysplasia; constipation; deep voice; and facial dysmorphism consisting of a round or puffy and somewhat coarse flat face, flat nasal bridge, upturned nose, and hypertelorism. Other features included puffy hands and feet, skin with rough and doughy texture, tortuosity of arteries of dorsal hands and feet, and clubfeet. In 2 patients with more pronounced clinical features, mild cardiomyopathy was also noted. Height gain became slower after 2 years of age, resulting in marked short stature, and growth retardation was disproportionate, primarily affecting the lower segment. Laboratory analysis revealed anemia and slightly elevated creatine kinase and cholesterol, as well as low free thyroxine, high free triiodothyronine, and normal TSH; treatment with levothyroxine did not ameliorate any of the clinical symptoms. Radiologic examination showed ovoid immature vertebral bodies, anterior-superior ossification defect in the lower thoracic and upper lumbar bodies, and hypoplasia of the acetabular and supraacetabular portions of the ilia and coxa vara. Hand x-rays showed minimal changes in tubular bones.
Molecular Genetics
In a 6-year-old girl with congenital nongoitrous hypothyroidism, Bochukova et al. (2012) performed whole-exome sequencing and identified a de novo heterozygous nonsense mutation in the THRA gene (E403X; 190120.0001) that generates a mutant protein that inhibits wildtype receptor action in a dominant-negative manner.
In a father and daughter with congenital nongoitrous hypothyroidism, van Mullem et al. (2012) identified heterozygosity for a 1-bp insertion in the THRA gene (190120.0002) that was not found in more than 300 Caucasian controls or in public databases. Mutations in 6 other thyroid-related genes were excluded by sequence analysis.
In an unrelated Polish boy and girl with congenital nongoitrous hypothyroidism, Tylki-Szymanska et al. (2015) performed exome sequencing and identified heterozygosity for de novo nonsense mutations in the THRA gene in both: the girl had the previously reported E403X mutation, whereas the boy had a C392X mutation (190120.0003). Sanger sequencing of THRA in 3 more Polish patients revealed heterozygous missense mutations in 2 of them, E403K (190120.0004) and P398R (190120.0005), with E403K being inherited from the patient's affected father, and P398R occurring de novo. No mutations were detected in the fifth patient.
INHERITANCE \- Autosomal dominant GROWTH Height \- Growth deficit affecting lower segment of body Weight \- Increased body mass index Other \- Growth retardation HEAD & NECK Head \- Relative macrocephaly Eyes \- Hypertelorism Nose \- Low or flat nasal bridge Mouth \- Macroglossia Teeth \- Delayed tooth eruption CARDIOVASCULAR Heart \- Low resting heart rate Vascular \- Low resting blood pressure \- Tortuosity of arteries of dorsal hands and feet (in some patients) ABDOMEN External Features \- Omphalocele Gastrointestinal \- Constipation \- Dilated bowel \- Delayed intestinal transit SKELETAL Skull \- Delayed fusion of cranial sutures \- Patent anterior fontanel \- Multiple wormian bones \- Delayed bone age Pelvis \- Congenital hip dislocation \- Absence of hip ossification centers Limbs \- Decreased subischial leg length with normal sitting height \- Femoral epiphyseal dysgenesis \- Mild hypermobility and ligamentous laxity at knee and ankle SKIN, NAILS, & HAIR Skin \- Dry skin \- Doughy skin (in some patients) MUSCLE, SOFT TISSUES \- Reduced muscle tone but normal power NEUROLOGIC Central Nervous System \- Impairment of gross and fine motor coordination \- Slow reactions \- Difficulty with writing and drawing \- Drowsiness \- Slow, broad-based gait Peripheral Nervous System \- Slow deep tendon reflexes Behavioral Psychiatric Manifestations \- Placid affect VOICE \- Slow, monotonous speech \- Deep or hoarse voice METABOLIC FEATURES \- Decreased basal metabolic rate ENDOCRINE FEATURES \- Total and free thyroxine low-normal or subnormal \- Total and free triiodothyronine high-normal or elevated \- Total thyroxine to total triiodothyronine ratio markedly low \- Free thyroxine to free triiodothyronine ratio markedly low \- Thyroid stimulating hormone normal \- Thyroxine-binding globulin normal \- Sex-hormone binding globulin markedly elevated \- Normal growth hormone response to provocative testing \- Insulin-like growth factor slightly low HEMATOLOGY \- Anemia LABORATORY ABNORMALITIES \- Slightly elevated creatine kinase \- Slightly elevated cholesterol MISCELLANEOUS \- Many features are present only in an untreated patient MOLECULAR BASIS \- Caused by mutation in the alpha-1 subunit of the thyroid hormone receptor gene (THRA, 190120.0001 ) ▲ Close
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: Dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: Luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone-binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
*[FSH]: Follicle-stimulating hormone
*[HHAT]: hedgehog acyltransferase
*[Hh]: Hedgehog
*[ABS]: amniotic band syndrome
| HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 6 | c3280817 | 30,232 | omim | https://www.omim.org/entry/614450 | 2019-09-22T15:55:12 | {"doid": ["0070128"], "omim": ["614450"], "orphanet": ["97927"], "synonyms": []} |
Metabolic acidosis
The level of bicarbonate in the blood (HCO3-) determines the severity of acidosis. Bicarbonate measurements are part of routine metabolic panels.
SpecialtyNephrology
ComplicationsAcute: poor morbidity and mortality outcomes;
Chronic: adverse outcomes on kidney function, musculoskeletal system, possible cardiovascular effects
TypesAcute Metabolic Acidosis
Chronic Metabolic Acidosis
CausesAcute: Excessive amounts of organic acids;
Chronic: Impaired kidney function
Diagnostic methodLevel of bicarbonate (HCO3-) in the blood
TreatmentAcute: IV bicarbonate therapy;[1]
Chronic: Diet rich in fruits and vegetables, oral alkali therapy[2]
FrequencyAcute: Most often presented during critical illnesses, and hospitalizations: incidence ranging from 14-42%. [3][4]
Chronic: Highly prevalent in people with Chronic Kidney Disease: 9.4% CKD Stage 3a; 18.1% CKD Stage 3b; 31.5% CKD Stage 4 and 5 [5]
Metabolic acidosis is a serious electrolyte disorder characterized by an imbalance in the body's acid-base balance. Metabolic acidosis has three main root causes: increased acid production, loss of bicarbonate, and a reduced ability of the kidneys to excrete excess acids.[6] Metabolic acidosis can lead to acidemia, which is defined as arterial blood pH that is lower than 7.35.[7] Acidemia and acidosis are not mutually exclusive – pH and hydrogen ion concentrations also depend on the coexistence of other acid-base disorders; therefore, pH levels in people with metabolic acidosis can range from low, normal, to high.
Acute metabolic acidosis, lasting from minutes to several days, often occurs during serious illnesses or hospitalizations, and is generally caused when the body produces an excess amount of organic acids (ketoacids or lactic acid). A state of chronic metabolic acidosis, lasting several weeks to years, can be the result of impaired kidney function (Chronic Kidney Disease) and/or bicarbonate wasting. The adverse effects of acute versus chronic metabolic acidosis also differ, with acute metabolic acidosis impacting the cardiovascular system in hospital settings, and chronic metabolic acidosis affecting muscles, bones, kidney and cardiovascular health.[8]
## Contents
* 1 Signs and symptoms
* 1.1 Acute metabolic acidosis
* 1.2 Chronic metabolic acidosis
* 2 Diagnostic approach and causes
* 2.1 Causes
* 3 Pathophysiology
* 3.1 Compensatory mechanisms
* 3.2 Buffer
* 4 Consequences
* 4.1 Acute Metabolic Acidosis
* 4.2 Chronic Metabolic Acidosis
* 5 Treatment
* 5.1 Acute Metabolic Acidosis
* 5.2 Chronic Metabolic Acidosis
* 6 See also
* 7 References
* 8 External links
## Signs and symptoms[edit]
### Acute metabolic acidosis[edit]
Symptoms are not specific, and diagnosis can be difficult unless patients present with clear indications for arterial blood gas sampling. Symptoms may include palpitations, headache, altered mental status such as severe anxiety due to hypoxia, decreased visual acuity, nausea, vomiting, abdominal pain, altered appetite and weight gain, muscle weakness, bone pain, and joint pain. People with acute metabolic acidosis may exhibit deep, rapid breathing called Kussmaul respirations which is classically associated with diabetic ketoacidosis.[9] Rapid deep breaths increase the amount of carbon dioxide exhaled, thus lowering the serum carbon dioxide levels, resulting in some degree of compensation. Overcompensation via respiratory alkalosis to form an alkalemia does not occur.
Extreme acidemia can also lead to neurological and cardiac complications:
* Neurological: lethargy, stupor, coma, seizures
* Cardiac: Abnormal heart rhythms (e.g., ventricular tachycardia) and decreased response to epinephrine, both leading to low blood pressure
Physical examination can occasionally reveal signs of the disease, but is often otherwise normal. Cranial nerve abnormalities are reported in ethylene glycol poisoning, and retinal edema can be a sign of methanol intoxication.
### Chronic metabolic acidosis[edit]
Chronic metabolic acidosis has non-specific clinical symptoms but can be readily diagnosed by testing serum bicarbonate levels in patients with Chronic Kidney Disease (CKD) as part of a comprehensive metabolic panel. Patients with CKD Stages G3-G5 should be routinely screened for metabolic acidosis.[10][11]
## Diagnostic approach and causes[edit]
Metabolic Acidosis is defined as a reduced serum pH, and an abnormal serum bicarbonate concentration of <22 mEq/L, below the normal range of 22 to 29 mEq/L. However, if a patient has other coexisting acid-base disorders, the pH level may be low, normal or high in the setting of metabolic acidosis.[6] In the absence of chronic respiratory alkalosis, metabolic acidosis can be clinically diagnosed by measuring serum bicarbonate levels in the blood, which is generally a standard component of blood panels. Imperatively, when weighing a metabolic acidosis diagnosis, the change in serum bicarbonate levels over time should be considered; if baseline bicarbonate results are unknown, a single set of values may be misinterpreted.
### Causes[edit]
Generally, metabolic acidosis occurs when the body produces too much acid (e.g., lactic acidosis, see below section), there is a loss of bicarbonate from the blood, or when the kidneys are not removing enough acid from the body.
Chronic metabolic acidosis is most often caused by a decreased capacity of the kidneys to excrete excess acids through ammoniagenesis. The typical Western diet generates 20-30 mEq of acid daily, and individuals with normal kidney function increase the production of ammonia to get rid of this dietary acid. As kidney function declines, the tubules lose the ability to excrete excess acid, and this results in buffering of acid using serum bicarbonate, as well as bone and muscle stores.[12]
There are many causes of acute metabolic acidosis, and thus it is helpful to group them by the presence or absence of a normal anion gap.[13]
Increased anion gap
Main article: High anion gap metabolic acidosis
Causes of increased anion gap include:
* Lactic acidosis[14]
* Ketoacidosis (e.g., Alcoholic, diabetic, or starvation)[15]
* Chronic kidney failure[16]
* Transient 5-oxoprolinemia due to long-term ingestion of high-doses of acetaminophen (often seen with sepsis, liver failure, kidney failure, or malnutrition)[17]
* Intoxication:
* Salicylates, methanol, ethylene glycol[15]
* Organic acids, paraldehyde, ethanol, formaldehyde[18]
* Carbon monoxide, cyanide, ibuprofen, metformin[19]
* Propylene glycol (metabolized to L and D-lactate and is often found in infusions for certain intravenous medications used in the intensive care unit)[20]
* Massive rhabdomyolysis[21]
* Isoniazid, iron, phenelzine, tranylcypromine, valproic acid, verapamil[22]
* Topiramate
* Sulfates[23]
Normal anion gap
Main article: Normal anion gap acidosis
Causes of normal anion gap include[24]
* Inorganic acid addition
* Infusion/ingestion of HCl, NH
4Cl
* Gastrointestinal base loss
* Diarrhea
* Small bowel fistula/drainage
* Surgical diversion of urine into gut loops
* Renal base loss/acid retention:
* Proximal renal tubular acidosis
* Distal renal tubular acidosis
* Hyperalimentation
* Addison disease
* Acetazolamide
* Spironolactone
* Saline infusion
To distinguish between the main types of metabolic acidosis, a clinical tool called the anion gap is considered very useful. It is calculated by subtracting the sum of the chloride and bicarbonate levels from the sum of the sodium and potassium levels. As sodium is the main extracellular cation, and chloride and bicarbonate are the main anions, the result should reflect the remaining anions. Normally, this concentration is about 8–16 mmol/L (12±4). An elevated anion gap (i.e. > 16 mmol/L) can indicate particular types of metabolic acidosis, such as types caused by certain poisons, lactate acidosis, and ketoacidosis. It is important to note that the anion gap can be spuriously normal in sampling errors of the sodium level, e.g. in extreme hypertriglyceridemia. The anion gap can also be increased due to relatively low levels of cations other than sodium and potassium (e.g. calcium or magnesium).[6]
As a differential diagnosis is made, other tests may be necessary, including toxicological screening and imaging of the kidneys, along with testing of electrolytes (including chloride), glucose, kidney function, and a full blood count. Urinalysis can reveal acidity (salicylate poisoning) or alkalinity (renal tubular acidosis type I). In addition, it can show ketones in ketoacidosis.[8] It is also important to differentiate between acidosis-induced hyperventilation and asthma; otherwise, treatment could lead to inappropriate bronchodilation.[25]
## Pathophysiology[edit]
### Compensatory mechanisms[edit]
Metabolic acidosis is characterized by a low concentration of bicarbonate (HCO−
3), which can happen with increased generation of acids (such as ketoacids or lactic acid), excess loss of HCO−
3 by the kidneys or gastrointestinal tract, or an inability to generate sufficient HCO−
3.[26] Thus demonstrating the importance of maintaining balance between acids and bases in the body for maintaining optimal functioning of organs, tissues and cells.
The body regulates the acidity of the blood by four buffering mechanisms.
* Bicarbonate buffering system
* Intracellular buffering by absorption of hydrogen atoms by various molecules, including proteins, phosphates and carbonate in bone.
* Respiratory compensation. Hyperventilation will cause more carbon dioxide to be removed from the body and thereby increases pH.
* Kidney compensation
### Buffer[edit]
The decreased bicarbonate that distinguishes metabolic acidosis is therefore due to two separate processes: the buffer (from water and carbon dioxide) and additional renal generation. The buffer reactions are:
H + + HCO 3 − ↽ − − ⇀ H 2 CO 3 ↽ − − ⇀ CO 2 + H 2 O {\displaystyle {\ce {H+ + HCO3- <=> H2CO3 <=> CO2 + H2O}}}
The Henderson-Hasselbalch equation mathematically describes the relationship between blood pH and the components of the bicarbonate buffering system:
pH = pK a + L o g [ HCO 3 − ] [ CO 2 ] {\displaystyle {\text{pH}}={\text{pK}}_{a}+\mathop {\mathrm {Log} } {\frac {\left[{\text{HCO}}_{3}^{-}\right]}{\left[{\text{CO}}_{2}\right]}}}
Using Henry's law, we can say that [CO
2] = 0.03 × PaCO
2
(PaCO
2 is the pressure of CO
2 in arterial blood)
Adding the other normal values, we get
pH = 6.1 + L o g [ 24 0.03 × 40 ] {\displaystyle {\text{pH}}=6.1+\mathop {\mathrm {Log} } \left[{\frac {24}{0.03\times 40}}\right]}
= 6.1 + 1.3 {\displaystyle =6.1+1.3}
= 7.4 {\displaystyle =7.4}
## Consequences[edit]
### Acute Metabolic Acidosis[edit]
Acute Metabolic Acidosis most often occurs during hospitalizations, and acute critical illnesses. It is often associated with poor prognosis, with a mortality rate as high as 57% if the pH remains untreated at 7.20.[27] At lower pH levels, acute metabolic acidosis can lead to impaired circulation and end organ function.
### Chronic Metabolic Acidosis[edit]
Chronic metabolic acidosis commonly occurs in people with Chronic Kidney Disease with an eGFR of less than 45 ml/min/1.73m2, most often with mild to moderate severity; however, metabolic acidosis can manifest earlier on in the course of Chronic Kidney Disease. Multiple animal and human studies have shown that metabolic acidosis in Chronic Kidney Disease, given its chronic nature, has a profound adverse impact on cellular function, overall contributing to high morbidities in patients.
The most adverse consequences of chronic metabolic acidosis in people with Chronic Kidney Disease and in particular, for those who have end-stage renal disease (ESRD), are detrimental changes to the bones and muscles.[28] Acid buffering leads to loss of bone density, resulting in an increased risk of bone fractures,[29] renal osteodystrophy,[30] and bone disease;[28] as well, increased protein catabolism leads to muscle wasting.[31][32] Furthermore, metabolic acidosis in Chronic Kidney Disease is also associated with a reduction in eGFR; it is both a complication of Chronic Kidney Disease, as well as an underlying cause of Chronic Kidney Disease progression.[33][34][35][36]
## Treatment[edit]
Treatment of metabolic acidosis depends on the underlying cause, and should target reversing the main process. When considering course of treatment, it is important to distinguish between acute versus chronic forms.
### Acute Metabolic Acidosis[edit]
Bicarbonate therapy is generally administered In patients with severe acute acidemia (pH < 7.11), or with less severe acidemia (pH 7.1-7.2) who have severe acute kidney injury. Bicarbonate therapy is not recommended for people with less severe acidosis (pH ≥ 7.1), unless severe acute kidney injury is present. In the BICAR-ICU trial,[37] bicarbonate therapy for maintaining a pH >7.3 had no overall effect on the composite outcome of all-cause mortality and the presence of at least one organ failure at day 7. However, amongst the sub-group of patients with severe acute kidney injury, bicarbonate therapy significantly decreased the primary composite outcome, and 28-day mortality, along with the need for dialysis.
### Chronic Metabolic Acidosis[edit]
For people with Chronic Kidney Disease, treating metabolic acidosis slows the progression of chronic kidney disease.[38] Dietary interventions for treatment of chronic metabolic acidosis include base-inducing fruits and vegetables that assist with reducing the urine net acid excretion, and increase TCO2. Recent research has also suggested that dietary protein restriction, through ketoanalogue-supplemented vegetarian very low protein diets are also a nutritionally safe option for correction of metabolic acidosis in people with Chronic Kidney Disease.[39]
Currently, the most commonly used treatment for chronic metabolic acidosis is oral bicarbonate. The NKF/KDOQI guidelines recommend starting treatment when serum bicarbonate levels are <22 mEq/L, in order to maintain levels ≥ 22 mEq/L.[10][11] Studies investigating the effects of oral alkali therapy demonstrated improvements in serum bicarbonate levels, resulting in a slower decline in kidney function, and reduction in proteinuria – leading to a reduction in the risk of progressing to kidney failure. However, side effects of oral alkali therapy include gastrointestinal intolerance, worsening edema, and worsening hypertension. Furthermore, large doses of oral alkali are required to treat chronic metabolic acidosis, and the pill burden can limit adherence.[40]
Veverimer (TRC 101) is a promising investigational drug designed to treat metabolic acidosis by binding with the acid in the gastrointestinal tract and removing it from the body through excretion in the feces, in turn decreasing the amount of acid in the body, and increasing the level of bicarbonate in the blood. Results from a Phase 3, double-blind placebo-controlled 12-week clinical trial in people with CKD and metabolic acidosis demonstrated that Veverimer effectively and safely corrected metabolic acidosis in the short-term,[41] and a blinded, placebo-controlled, 40-week extension of the trial assessing long-term safety, demonstrated sustained improvements in physical function and a combined endpoint of death, dialysis, or 50% decline in eGFR.[42]
## See also[edit]
* Delta ratio
* Metabolic alkalosis
* Respiratory acidosis
* Respiratory alkalosis
* Trauma triad of death
* Winters' formula
* Intravenous bicarbonate
## References[edit]
1. ^ Jaber, Samir; Paugam, Catherine; Futier, Emmanuel; Lefrant, Jean-Yves; Lasocki, Sigismond; Lescot, Thomas; Pottecher, Julien; Demoule, Alexandre; Ferrandière, Martine; Asehnoune, Karim; Dellamonica, Jean; Velly, Lionel; Abback, Paër-Sélim; Jong, Audrey de; Brunot, Vincent; Belafia, Fouad; Roquilly, Antoine; Chanques, Gérald; Muller, Laurent; Constantin, Jean-Michel; Bertet, Helena; Klouche, Kada; Molinari, Nicolas; Jung, Boris; Jaber, Samir; Jong, Audrey de; Belafia, Fouad; Chanques, Gérald; Monnin, Marion; Delay, Jean-Marc; Cissé, Moussa; Geniez, Marie; Conseil, Matthieu; Souche, Bruno; Paugam, Catherine; Abback, Paër-Sélim; Futier, Emmanuel; Constantin, Jean Michel; Lefrant, Jean-Yves; Muller, Laurent; Lasocki, Sigismond; Lescot, Thomas; Pottecher, Julien; Noll, Eric; Demoule, Alexandre; Morawiec, Elise; Ferrandière, Martine; Asehnoune, Karim; Roquilly, Antoine; Dellamonica, Jean; Robert, Alexandre; Velly, Lionel; Triglia, Thibaut; Brunot, Vincent; Molinari, Nicolas; Mechati, Malika; Arnal, Jean-Michel; Durand-Gasselin, Jacques; Demoly, Didier; Hraiech, Sami; Papazian, Laurent; Gilles, Vincent; Rimmelé, Thomas; Riu, Béatrice; Cougot, Pierre; Fourcade, Olivier; Seguin, Philippe; Charbit, Jonathan; Capdevila, Xavier; Leone, Marc; Zieleskiewicz, Laurent; Ichai, Carole; Orban, Jean Christophe; Darmon, Michael; Azoulay, Elie; Lemiale, Virginie; Zafrani, Lara; Debbat, Karim; Mimoz, Oliver; Guérin, Claude; Kipnis, Eric (7 July 2018). "Sodium bicarbonate therapy for patients with severe metabolic acidaemia in the intensive care unit (BICAR-ICU): a multicentre, open-label, randomised controlled, phase 3 trial" (PDF). The Lancet. 392 (10141): 31–40. doi:10.1016/S0140-6736(18)31080-8. PMID 29910040. S2CID 49276138.
2. ^ Navaneethan, Sankar D.; Shao, Jun; Buysse, Jerry; Bushinsky, David A. (5 July 2019). "Effects of Treatment of Metabolic Acidosis in CKD: A Systematic Review and Meta-Analysis". Clinical Journal of the American Society of Nephrology. 14 (7): 1011–1020. doi:10.2215/CJN.13091118. PMC 6625635. PMID 31196951.
3. ^ Kraut, Jeffrey A.; Madias, Nicolaos E. (4 September 2012). "Treatment of acute metabolic acidosis: a pathophysiologic approach". Nature Reviews Nephrology. 8 (10): 589–601. doi:10.1038/nrneph.2012.186. PMID 22945490. S2CID 34657707.
4. ^ Jung, Boris; Rimmele, Thomas; Le Goff, Charlotte; Chanques, Gérald; Corne, Philippe; Jonquet, Olivier; Muller, Laurent; Lefrant, Jean-Yves; Guervilly, Christophe; Papazian, Laurent; Allaouchiche, Bernard; Jaber, Samir (2011). "Severe metabolic or mixed acidemia on intensive care unit admission: incidence, prognosis and administration of buffer therapy. A prospective, multiple-center study". Critical Care (London, England). 15 (5): R238. doi:10.1186/cc10487. PMC 3334789. PMID 21995879.
5. ^ Inker, Lesley A.; Coresh, Josef; Levey, Andrew S.; Tonelli, Marcello; Muntner, Paul (1 December 2011). "Estimated GFR, Albuminuria, and Complications of Chronic Kidney Disease". Journal of the American Society of Nephrology. 22 (12): 2322–2331. doi:10.1681/ASN.2010111181. PMC 3279937. PMID 21965377.
6. ^ a b c Emmett, Michael; Szerlip, Harold. "Approach to the adult with metabolic acidosis".
7. ^ Costanzo, Linda (2010). Physiology. Philadelphia, Pennsylvania: Elsevier. ISBN 978-1-4160-6216-5.
8. ^ a b Kraut, Jeffrey A.; Madias, Nicolaos E. (2010-05-01). "Metabolic acidosis: pathophysiology, diagnosis and management". Nature Reviews Nephrology. 6 (5): 274–285. doi:10.1038/nrneph.2010.33. ISSN 1759-5061. PMID 20308999. S2CID 205512465.
9. ^ Gallo de Moraes, Alice; Surani, Salim (2019-01-15). "Effects of diabetic ketoacidosis in the respiratory system". World Journal of Diabetes. 10 (1): 16–22. doi:10.4239/wjd.v10.i1.16. ISSN 1948-9358. PMC 6347653. PMID 30697367.
10. ^ a b "National Kidney Foundation: K/DOQI clinical practice guidelines for bone metabolism and disease in chronic kidney disease" (PDF). Am J Kidney Dis. 42 (Suppl 3): S1–S201.
11. ^ a b "CKD Evaluation and Management – KDIGO". kdigo.org. Retrieved 2019-12-31.
12. ^ Kovesdy, Csaba. "Pathogenesis, consequences, and treatment of metabolic acidosis in chronic kidney disease". UpToDate.
13. ^ Stern, Scott D. C.; Cifu, Adam S.; Altkorn, Diane (2015). Symptom to diagnosis: an evidence-based guide (3rd ed.). New York: McGraw-Hill Education. ISBN 9780071803441. OCLC 896866189.
14. ^ Quinn, Gene R.; Gleason, Nathaniel W.; Papadakis, Maxine A.; McPhee, Stephen J., eds. (2016). Current medical diagnosis & treatment study guide (2nd ed.). New York: McGraw-Hill. ISBN 9780071848053. OCLC 910475681.
15. ^ a b DeGowin's diagnostic examination. LeBlond, Richard F.,, Brown, Donald D., 1940-, Suneja, Manish,, Szot, Joseph F. (Tenth ed.). New York. 2014-09-05. ISBN 9780071814478. OCLC 876336892.CS1 maint: others (link)
16. ^ Morgan & Mikhail's clinical anesthesiology. Butterworth, John F., IV,, Mackey, David C.,, Wasnick, John D.,, Morgan, G. Edward,, Mikhail, Maged S.,, Morgan, G. Edward. (Sixth ed.). New York. 2018-08-21. ISBN 9781259834424. OCLC 1039081701.CS1 maint: others (link)
17. ^ Poisoning and drug overdose. Olson, Kent R. (Kent Russell),, Anderson, Ilene B.,, Benowitz, Neal L.,, Blanc, Paul D., 1951-, Clark, Richard F.,, Kearney, Thomas E. (Seventh ed.). [New York]. ISBN 9780071839808. OCLC 1013928560.CS1 maint: others (link)
18. ^ Critical care. Oropello, John M.,, Pastores, Stephen M.,, Kvetan, Vladimir. [New York]. 2016-11-22. ISBN 9780071817264. OCLC 961480454.CS1 maint: others (link)
19. ^ Current medical diagnosis & treatment 2020. Papadakis, Maxine A.,, McPhee, Stephen J.,, Rabow, Michael W. (Fifty-eighth ed.). New York. 2019-09-02. ISBN 9781260455281. OCLC 1109935506.CS1 maint: others (link)
20. ^ Harrison's principles of internal medicine. Jameson, J. Larry,, Kasper, Dennis L.,, Longo, Dan L. (Dan Louis), 1949-, Fauci, Anthony S., 1940-, Hauser, Stephen L.,, Loscalzo, Joseph (20th ed.). New York. 2018-08-13. ISBN 9781259644030. OCLC 1029074059.CS1 maint: others (link)
21. ^ Morgan & Mikhail's clinical anesthesiology. Butterworth, John F., IV,, Mackey, David C.,, Wasnick, John D.,, Morgan, G. Edward,, Mikhail, Maged S.,, Morgan, G. Edward. (Sixth ed.). New York. 2018-08-21. ISBN 978-1259834424. OCLC 1039081701.CS1 maint: others (link)
22. ^ Katzung, Bertram G. (2018-09-05). Katzung & Trevor's pharmacology : examination & board review. Kruidering-Hall, Marieke,, Trevor, Anthony J. (Twelfth ed.). New York. ISBN 978-1259641022. OCLC 1052466341.
23. ^ Levitzky, Michael G. (2007). Pulmonary physiology (7th ed.). New York: McGraw-Hill Medical. ISBN 9780071437752. OCLC 75713147.
24. ^ Field, Michael J.; Pollock, Carol A.; Harris, David C. (2010). The renal system: basic science and clinical conditions (2nd ed.). Edinburgh: Churchill Livingstone/Elsevier. ISBN 9780702033711. OCLC 319855752.
25. ^ Meert, K. L; Clark, J; Sarnaik, A. P (2007). "Metabolic acidosis as an underlying mechanism of respiratory distress in children with severe acute asthma". Pediatric Critical Care Medicine. 8 (6): 519–23. doi:10.1097/01.PCC.0000288673.82916.9D. PMID 17906597. S2CID 27488853.
26. ^ Costanzo, Linda S. (2017-03-15). Physiology (6th ed.). Philadelphia, PA: Elsevier. ISBN 9780323511896. OCLC 965761862.
27. ^ Kraut, Jeffrey A.; Madias, Nicolaos E. (4 September 2012). "Treatment of acute metabolic acidosis: a pathophysiologic approach". Nature Reviews Nephrology. 8 (10): 589–601. doi:10.1038/nrneph.2012.186. PMID 22945490. S2CID 34657707.
28. ^ a b Kraut, Jeffrey A.; Madias, Nicolaos E. (2017). "Adverse Effects of the Metabolic Acidosis of Chronic Kidney Disease". Advances in Chronic Kidney Disease. 24 (5): 289–297. doi:10.1053/j.ackd.2017.06.005. PMID 29031355.
29. ^ Kato, Akihiko; Kido, Ryo; Onishi, Yoshihiro; Kurita, Noriaki; Fukagawa, Masafumi; Akizawa, Tadao; Fukuhara, Shunichi (2014). "Association of serum bicarbonate with bone fractures in hemodialysis patients: the mineral and bone disorder outcomes study for Japanese CKD stage 5D patients (MBD-5D)". Nephron Clinical Practice. 128 (1–2): 79–87. doi:10.1159/000365089. ISSN 1660-2110. PMID 25378374. S2CID 20320396.
30. ^ Lefebvre, A.; de Vernejoul, M. C.; Gueris, J.; Goldfarb, B.; Graulet, A. M.; Morieux, C. (1989). "Optimal correction of acidosis changes progression of dialysis osteodystrophy". Kidney International. 36 (6): 1112–1118. doi:10.1038/ki.1989.309. ISSN 0085-2538. PMID 2557481.
31. ^ Hanna, Ramy M.; Ghobry, Lena; Wassef, Olivia; Rhee, Connie M.; Kalantar-Zadeh, Kamyar (2020). "A Practical Approach to Nutrition, Protein-Energy Wasting, Sarcopenia, and Cachexia in Patients with Chronic Kidney Disease". Blood Purification. 49 (1–2): 202–211. doi:10.1159/000504240. ISSN 0253-5068. PMID 31851983. S2CID 209418220.
32. ^ Foley, Robert N.; Wang, Changchun; Ishani, Areef; Collins, Allan J.; Murray, Anne M. (2007). "Kidney Function and Sarcopenia in the United States General Population: NHANES III". American Journal of Nephrology. 27 (3): 279–286. doi:10.1159/000101827. ISSN 0250-8095. PMID 17440263. S2CID 2847009.
33. ^ Shah, Samir N.; Abramowitz, Matthew; Hostetter, Thomas H.; Melamed, Michal L. (2009-08-01). "Serum bicarbonate levels and the progression of kidney disease: a cohort study". American Journal of Kidney Diseases. 54 (2): 270–277. doi:10.1053/j.ajkd.2009.02.014. ISSN 1523-6838. PMC 4354889. PMID 19394734.
34. ^ Dobre, Mirela; Yang, Wei; Chen, Jing; Drawz, Paul; Hamm, L. Lee; Horwitz, Edward; Hostetter, Thomas; Jaar, Bernard; Lora, Claudia M.; Nessel, Lisa; Ojo, Akinlolu (2013-10-01). "Association of Serum Bicarbonate With Risk of Renal and Cardiovascular Outcomes in CKD: A Report From the Chronic Renal Insufficiency Cohort (CRIC) Study". American Journal of Kidney Diseases. 62 (4): 670–678. doi:10.1053/j.ajkd.2013.01.017. ISSN 0272-6386. PMC 3701754. PMID 23489677.
35. ^ Menon, Vandana; Tighiouart, Hocine; Vaughn, Nubia Smith; Beck, Gerald J.; Kusek, John W.; Collins, Allan J.; Greene, Tom; Sarnak, Mark J. (2010-11-01). "Serum Bicarbonate and Long-term Outcomes in CKD". American Journal of Kidney Diseases. 56 (5): 907–914. doi:10.1053/j.ajkd.2010.03.023. ISSN 0272-6386. PMID 20605301.
36. ^ Raphael, Kalani L.; Wei, Guo; Baird, Bradley C.; Greene, Tom; Beddhu, Srinivasan (2011-02-01). "Higher serum bicarbonate levels within the normal range are associated with better survival and renal outcomes in African Americans". Kidney International. 79 (3): 356–362. doi:10.1038/ki.2010.388. ISSN 0085-2538. PMC 5241271. PMID 20962743.
37. ^ Jaber, Samir; Paugam, Catherine; Futier, Emmanuel; Lefrant, Jean-Yves; Lasocki, Sigismond; Lescot, Thomas; Pottecher, Julien; Demoule, Alexandre; Ferrandière, Martine; Asehnoune, Karim; Dellamonica, Jean (2018-07-07). "Sodium bicarbonate therapy for patients with severe metabolic acidaemia in the intensive care unit (BICAR-ICU): a multicentre, open-label, randomised controlled, phase 3 trial" (PDF). The Lancet. 392 (10141): 31–40. doi:10.1016/S0140-6736(18)31080-8. ISSN 0140-6736. PMID 29910040. S2CID 49276138.
38. ^ Goraya, Nimrit; Wesson, Donald E. (2019). "Clinical evidence that treatment of metabolic acidosis slows the progression of chronic kidney disease". Current Opinion in Nephrology and Hypertension. 28 (3): 267–277. doi:10.1097/MNH.0000000000000491. ISSN 1062-4821. PMC 6467553. PMID 30681417.
39. ^ Garneata, Liliana; Stancu, Alexandra; Dragomir, Diana; Stefan, Gabriel; Mircescu, Gabriel (2016-07-01). "Ketoanalogue-Supplemented Vegetarian Very Low–Protein Diet and CKD Progression". Journal of the American Society of Nephrology. 27 (7): 2164–2176. doi:10.1681/ASN.2015040369. ISSN 1046-6673. PMC 4926970. PMID 26823552.
40. ^ Chen, Wei; Abramowitz, Matthew K. (2019). "Advances in management of chronic metabolic acidosis in chronic kidney disease". Current Opinion in Nephrology and Hypertension. 28 (5): 409–416. doi:10.1097/MNH.0000000000000524. ISSN 1473-6543. PMC 6677263. PMID 31232712.
41. ^ Wesson, Donald E.; Mathur, Vandana; Tangri, Navdeep; Stasiv, Yuri; Parsell, Dawn; Li, Elizabeth; Klaerner, Gerrit; Bushinsky, David A. (2019-04-06). "Veverimer versus placebo in patients with metabolic acidosis associated with chronic kidney disease: a multicentre, randomised, double-blind, controlled, phase 3 trial". The Lancet. 393 (10179): 1417–1427. doi:10.1016/S0140-6736(18)32562-5. ISSN 0140-6736. PMID 30857647. S2CID 72332908.
42. ^ Wesson, Donald E.; Mathur, Vandana; Tangri, Navdeep; Stasiv, Yuri; Parsell, Dawn; Li, Elizabeth; Klaerner, Gerrit; Bushinsky, David A. (2019-08-03). "Long-term safety and efficacy of veverimer in patients with metabolic acidosis in chronic kidney disease: a multicentre, randomised, blinded, placebo-controlled, 40-week extension". The Lancet. 394 (10196): 396–406. doi:10.1016/S0140-6736(19)31388-1. ISSN 0140-6736. PMID 31248662. S2CID 195339720.
## External links[edit]
Classification
D
* ICD-10: E87.2
* ICD-9-CM: 276.2
* MeSH: D000138
* DiseasesDB: 92
External resources
* MedlinePlus: 000335
* eMedicine: emerg/312 med/1458 ped/15
* Patient UK: Metabolic acidosis
* v
* t
* e
Acid–base disorders
Acidosis
Metabolic
* High anion gap
* Ketoacidosis
* Diabetic ketoacidosis
* Alcoholic ketoacidosis
* Lactic
* Normal anion gap
* Hyperchloremic
* Renal tubular
Respiratory
* Respiratory
Alkalosis
* Metabolic
* Contraction alkalosis
* Respiratory
Other
* Mixed disorder of acid-base balance
* Acid–base homeostasis
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: Dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: Luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone-binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
*[FSH]: Follicle-stimulating hormone
*[HHAT]: hedgehog acyltransferase
*[Hh]: Hedgehog
*[ABS]: amniotic band syndrome
| Metabolic acidosis | c0220981 | 30,233 | wikipedia | https://en.wikipedia.org/wiki/Metabolic_acidosis | 2021-01-18T18:47:21 | {"mesh": ["D000138"], "icd-9": ["276.2"], "icd-10": ["E87.2"], "wikidata": ["Q1598200"]} |
A number sign (#) is used with this entry because primary ciliary dyskinesia-9 (CILD9) can be caused by homozygous mutation in the DNAI2 gene (605483) on chromosome 17q25.
For a general description and a discussion of genetic heterogeneity of primary ciliary dyskinesia and Kartagener syndrome, see CILD1 (244400).
Description
Primary ciliary dyskinesia is an autosomal recessive disorder resulting from loss of normal ciliary function. Kartagener (pronounced KART-agayner) syndrome is characterized by the combination of primary ciliary dyskinesia and situs inversus, and occurs in approximately half of patients with ciliary dyskinesia. Since normal nodal ciliary movement in the embryo is required for normal visceral asymmetry, absence of normal ciliary movement results in a lack of definitive patterning; thus, random chance alone appears to determine whether the viscera take up the normal or reversed left-right position during embryogenesis. This explains why approximately 50% of patients, even within the same family, have situs inversus (Afzelius, 1976; El Zein et al., 2003).
Clinical Features
Loges et al. (2008) reported a consanguineous Iranian Jewish kindred in which 2 individuals had primary ciliary dyskinesia characterized by neonatal pneumonia, recurrent rhinitis and sinusitis, recurrent otitis media and hearing deficits, chronic cough, and bronchiectasis. Two additional family members had these features and situs inversus, consistent with Kartagener syndrome. One affected male had infertility. Electron microscopic studies showed defects of the outer dynein arm in the axonemes of respiratory cilia and sperm tails.
Knowles et al. (2013) reported 3 unrelated individuals of Ashkenazi Jewish descent with CILD9. The patients had neonatal respiratory distress, sinusitis, otitis, bronchiectasis, and decreased nasal nitric oxide; 2 had situs inversus. Respiratory epithelial cells showed ciliary outer dynein arm defects.
Molecular Genetics
In affected members of 3 unrelated families with CILD9, Loges et al. (2008) identified 3 different homozygous mutations in the DNAI2 gene (605483.0001-605483.0003). Affected cilia showed a complete loss of functional DNAI2 protein, consistent with recessive loss-of-function mutations.
In 3 individuals of Ashkenazi Jewish descent with CILD9, Knowles et al. (2013) identified a homozygous truncating mutation in the DNAI2 gene (W453X; 605483.0004). The mutation was identified by exome sequencing; haplotype analysis indicated a founder effect.
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: Dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: Luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone-binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
*[FSH]: Follicle-stimulating hormone
*[HHAT]: hedgehog acyltransferase
*[Hh]: Hedgehog
*[ABS]: amniotic band syndrome
| CILIARY DYSKINESIA, PRIMARY, 9 | c2676235 | 30,234 | omim | https://www.omim.org/entry/612444 | 2019-09-22T16:01:30 | {"doid": ["0110622"], "mesh": ["C567310"], "omim": ["612444", "244400"], "orphanet": ["244"], "synonyms": ["Alternative titles", "CILIARY DYSKINESIA, PRIMARY, 9, WITH OR WITHOUT SITUS INVERSUS", "PCD"], "genereviews": ["NBK1122"]} |
This article needs more medical references for verification or relies too heavily on primary sources. Please review the contents of the article and add the appropriate references if you can. Unsourced or poorly sourced material may be challenged and removed.
Find sources: "Overriding aorta" – news · newspapers · books · scholar · JSTOR (January 2019)
Overriding aorta
Diagram of a healthy heart and one suffering from overriding aorta
SpecialtyCardiac surgery
An overriding aorta is a congenital heart defect where the aorta is positioned directly over a ventricular septal defect (VSD), instead of over the left ventricle. The result is that the aorta receives some blood from the right ventricle, causing mixing of oxygenated and deoxygenated blood, and thereby reducing the amount of oxygen delivered to the tissues.
It is one of the four findings in the classic tetralogy of Fallot. The other three findings are right ventricular outflow tract (RVOT) obstruction (most often subpulmonary stenosis), right ventricular hypertrophy (RVH), and ventricular septal defect (VSD).
## References[edit]
## External links[edit]
Classification
D
* ICD-10: Q25.4
(EUROCAT Q25.42)
* ICD-9-CM: 747.21
* v
* t
* e
Congenital vascular defects / Vascular malformation
Great arteries/
other arteries
Aorta
* Patent ductus arteriosus
* Coarctation of the aorta
* Interrupted aortic arch
* Double aortic arch
* Right-sided aortic arch
* Overriding aorta
* Aneurysm of sinus of Valsalva
* Vascular ring
Pulmonary artery
* Pulmonary atresia
* Stenosis of pulmonary artery
Subclavian artery
* Aberrant subclavian artery
Umbilical artery
* Single umbilical artery
Great veins
Superior/inferior vena cava
* Congenital stenosis of vena cava
* Persistent left superior vena cava
Pulmonary vein
* Anomalous pulmonary venous connection (Total, Partial)
* Scimitar syndrome
Arteriovenous malformation
* Cerebral arteriovenous malformation
This article about a medical condition affecting the circulatory system is a stub. You can help Wikipedia by expanding it.
* v
* t
* e
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: Dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: Luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone-binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
*[FSH]: Follicle-stimulating hormone
*[HHAT]: hedgehog acyltransferase
*[Hh]: Hedgehog
*[ABS]: amniotic band syndrome
| Overriding aorta | c0265886 | 30,235 | wikipedia | https://en.wikipedia.org/wiki/Overriding_aorta | 2021-01-18T18:49:12 | {"icd-9": ["747.21"], "icd-10": ["Q25.4"], "wikidata": ["Q2142075"]} |
Glucagonoma is a rare, functioning type of pancreatic neuroendocrine tumor (PNET; see this term) that hypersecretes glucagon, leading to a syndrome comprised of necrolytic migratory erythema, diabetes mellitus, anemia, weight loss, mucosal abnormalities, thromboembolism, gastrointestinal and neuropsychiatric symptoms.
## Epidemiology
The estimated incidence in the general population is 1/20, 000,000.
## Clinical description
Glucagonoma usually presents in the fifth decade of life with the initial symptom often being necrolytic migratory erythema. This skin condition is characterized by a red, blistering and migratory rash, associated with an intense pruritus and that is mainly localized to the lower extremities and the groin. Diabetes is present in most cases and requires insulin therapy. Weight loss, anemia, mucosal abnormalities (glossitis, cheilitis, stomatitis), gastrointestinal disturbances, thromboembolism and neuropsychiatric symptoms (depression) are other frequent manifestations. Most glucagonomas have already metastasized by the time that they are diagnosed, mainly to the liver. In some cases glucagonoma may be associated with multiple endocrine neoplasia type 1 (MEN1; see this term). Glucogonoma can be non-functioning in rare cases.
## Etiology
The etiology is unknown. These tumors of 2-25 cm mainly occur in the tail of the pancreas. They synthesize and secrete glucagon, which is responsible for balancing the effects of insulin, and is therefore essential in regulating blood sugar levels.
## Diagnostic methods
Diagnosis is based on clinical findings and endocrine tests. Serum glucagon levels are markedly elevated (>500 pg/mL) and levels of more than 1000 pg/mL are considered diagnostic if the patient also displays features of glucagonoma syndrome. Other hormones such as insulin, somatostatin and vasoactive intestinal peptide may also be elevated. Levels of blood chromogranin A are increased. Localization of tumors is possible by computed tomography (CT) scan, octreotide scan, magnetic resonance imaging (MRI) and/or endoscopic ultrasound.
## Differential diagnosis
Differential diagnoses include familial hyperglucagonemia, autoimmune and hereditary chronic pancreatitis, Mahvash disease, acrodermatitis enteropathica (see these terms) and cirrhosis.
## Management and treatment
Somatostatin analogues (octreotide or lanreotide) are usually effective in leading to a remission of rash in most patients as well as improving the symptoms of weight loss, abdominal pain and diarrhea. Glycemia is managed by insulin injections or anti-diabetic drugs. Parenteral nutrition (with essential fatty acids, amino acids, vitamins and minerals) may also be necessary. Surgical resection is the only curative option in localized cases. Surgical debulking followed by chemotherapy may be an option in extensive tumors. Resection of the lymph nodes, spleen and parts of the liver containing metastasized glocagonoma may also be necessary. As thromboembolic complications can occur, blood thinners (antiplatelets and anticoagulants) may be recommended.
## Prognosis
The prognosis of glucagonoma is usually poor as most have metastasized by the time that they are discovered. Those associated with MEN1 usually have a fairer prognosis as they are diagnosed sooner.
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: Dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: Luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone-binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
*[FSH]: Follicle-stimulating hormone
*[HHAT]: hedgehog acyltransferase
*[Hh]: Hedgehog
*[ABS]: amniotic band syndrome
| Glucagonoma | c0017689 | 30,236 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=97280 | 2021-01-23T18:36:01 | {"gard": ["2496", "9399"], "mesh": ["D005935"], "umls": ["C0017689"], "icd-10": ["E16.8"], "synonyms": ["Glucagonoma syndrome"]} |
Erythrocyanosis crurum
SpecialtyDermatology
Erythrocyanosis crurum is a skin condition, a variant of acrocyanosis caused by chronic exposure to cold.
## See also[edit]
* Chilblains
* List of cutaneous conditions
## References[edit]
* Otto Braun-Falco; G. Plewig; H. H. Wolff; Walter H. C. Burgdorf (2000). Dermatology. Springer Verlag. p. 889. ISBN 3-540-59452-3.
* James, William D.; Berger, Timothy G.; et al. (2006). Andrews' Diseases of the Skin: Clinical Dermatology. Saunders Elsevier. ISBN 0-7216-2921-0.
## External links[edit]
Classification
D
* ICD-10: I73.8
This cutaneous condition article is a stub. You can help Wikipedia by expanding it.
* v
* t
* e
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: Dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: Luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone-binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
*[FSH]: Follicle-stimulating hormone
*[HHAT]: hedgehog acyltransferase
*[Hh]: Hedgehog
*[ABS]: amniotic band syndrome
| Erythrocyanosis crurum | c0264946 | 30,237 | wikipedia | https://en.wikipedia.org/wiki/Erythrocyanosis_crurum | 2021-01-18T18:43:38 | {"umls": ["C0264946"], "icd-10": ["I73.8"], "wikidata": ["Q5396458"]} |
A number sign (#) is used with this entry because Waardenburg syndrome type 1 (WS1) is caused by heterozygous mutation in the PAX3 gene (606597) on chromosome 2q36.
Waardenburg syndrome type 3 (WS3; 148820) is also caused by mutation in the PAX3 gene.
Description
Waardenburg syndrome type 1 is an autosomal dominant auditory-pigmentary syndrome characterized by pigmentary abnormalities of the hair, skin, and eyes; congenital sensorineural hearing loss; and 'dystopia canthorum,' the lateral displacement of the ocular inner canthi (reviews by Read and Newton, 1997, Tamayo et al., 2008, and Pingault et al., 2010).
### Clinical Variability of Waardenburg Syndrome Types 1-4
Waardenburg syndrome is an auditory-pigmentary syndrome characterized by pigmentary abnormalities of the hair, including a white forelock and premature graying; pigmentary changes of the iris, such as heterochromia irides and brilliant blue eyes; and congenital sensorineural hearing loss. Waardenburg syndrome has been classified into 4 main phenotypes. WS type 1 is distinguished by the presence of dystopia canthorum. WS type 2 (WS2; see 193510) is distinguished from type 1 by the absence of dystopia canthorum. WS type 3 (WS3; 148820) has dystopia canthorum and upper limb abnormalities. WS type 4 (WS4; see 277580), also known as Waardenburg-Shah syndrome, has the additional feature of Hirschsprung disease (reviews by Read and Newton, 1997 and Tamayo et al., 2008).
### Genetic Heterogeneity of All Types of Waardenburg Syndrome
Waardenburg syndrome is genetically heterogeneous. WS1 and WS3 are both caused by mutation in the PAX3 gene. See WS2A (193510) for a discussion of genetic heterogeneity of WS type 2, and WS4A (277580) for a discussion of genetic heterogeneity of WS type 4.
Clinical Features
Waardenburg (1951) first delineated the syndrome that bears his name, describing it as a disorder combining anomalies of the eyelids, eyebrows, and nasal root with congenital deafness.
Feingold et al. (1967) noted that the white forelock may be present at birth and later disappear in patients with Waardenburg syndrome. Arias (1980) suggested that visceral and cranial malformations (such as Hirschsprung megacolon) are associated with Waardenburg syndrome type 1.
Yoshino et al. (1986) evaluated the incidence of dystopia canthorum in a 3-generation family with Waardenburg syndrome type 1 and concluded that it is the most frequently expressed sign of the condition.
Da-Silva (1991) reported 2 large multigenerational Brazilian kindreds with WS type 1. The total number of affected individuals was 73. The major manifestations were telecanthus, which was the only constant anomaly, prominent nasal root (78%), round or square tip of nose, hypoplastic alae, smooth philtrum, bushy eyebrows with synophrys (76%), sensorineural deafness (67%), heterochromia or hypoisochromia iridis, hypopigmented ocular fundus, white forelock (29%), premature graying (44%), and hypopigmented skin lesions (55%).
Winship and Beighton (1992) reviewed phenotypic variation of Waardenburg syndrome on the basis of an analysis of 68 affected children.
In a craniofacial anthropometric study of 51 WS type 1 individuals, da-Silva et al. (1993) concluded that the most discriminating parameters were, from clinical measurements, increased intercanthal distance and decreased philtrum length, and, from roentgenographic measurements, decreased nasal bone length and increased lower facial height.
Read and Newton (1997) provided a review of the clinical features and molecular basis of Waardenburg syndrome and other auditory pigmentary syndromes.
From a systematic literature search, Song et al. (2016) determined that the prevalence of hearing loss in patients with Waardenburg syndrome differed according to the genotype: the prevalence in those with WS1 due to PAX3 mutations was 52.3%.
Other Features
Giacoia and Klein (1969) documented the occurrence of bilateral cleft lip in Waardenburg syndrome. Arias (1971) observed a black forelock in place of white forelock.
Goodman et al. (1988) observed absence of vagina and of right-sided uterine adnexa in an 18-year-old woman with WS1. They postulated that these are related to Waardenburg syndrome because of altered invasion of neurons in early embryogenesis.
Carezani-Gavin et al. (1992) reported a patient with Waardenburg syndrome type 1 who also had a meningomyelocele at the L3-S1 level and Arnold-Chiari malformation. Characteristic features of WS1 were present, including hearing loss, dystopia canthorum, broad nasal root, and narrow nasal tip. There was a family history of the disorder, but none of the other affected individuals had neural tube defects. In the family reported by Carezani-Gavin et al. (1992), Hoth et al. (1993) identified a heterozygous mutation in the PAX3 gene (R56L; 606597.0014).
Chatkupt et al. (1993) stated that spina bifida had been noted in at least 4 patients with Waardenburg syndrome. They reported the cases of brothers with both Waardenburg syndrome and lumbosacral myelomeningocele. The mother had features of Waardenburg syndrome. Spina bifida occurs with the 'Splotch' mutation, which molecular studies indicate is the homologous disorder in the mouse (see 606597).
Inheritance
Waardenburg syndrome type 1 is an autosomal dominant disorder (Pardono et al., 2003).
Jones et al. (1975) found evidence of paternal age effect in new mutations for autosomal dominant Waardenburg syndrome.
Kapur and Karam (1991) described a family in which 3 children with this disorder were born to normal, unrelated parents. Germline mosaicism was postulated.
Diagnosis
Laestadius et al. (1969) provided normal standards for the measurement of inner canthal and outer canthal distance. Standards were also presented by Christian et al. (1969).
In place of the measurement of inner canthal distance, the Waardenburg Consortium (Farrer et al., 1992) recommended the W index: a composite measure including the inner canthal, inner pupillary, and outer canthal distances. Normal and dystopic subjects had W values (mean +/- SD) of 1.76 +/- 0.16 and 2.61 +/- 0.19, respectively (Newton, 1989); the Waardenburg Consortium recommended a threshold W value of 2.07.
Pardono et al. (2003) studied 59 patients with Waardenburg syndrome from 37 families (30 with type 1, 21 with type 2, and 8 isolated individuals without telecanthus). All patients were examined for the presence of 8 cardinal diagnostic signs: telecanthus, synophrys, iris pigmentation disturbances, partial hair albinism, hearing impairment, hypopigmented skin spots, nasal root hyperplasia, and lower lacrimal dystopia. The authors noted that some patients with type 1 may not have dystopia canthorum, but that it is present in 95 to 99% of patients with WS type 1. Using their own data as well as those collected from the literature, the authors estimated the frequencies of these 8 cardinal signs of Waardenburg syndrome based on a sample of 461 affected individuals with type 1 and 121 with type 2.
Cytogenetics
Ishikiriyama et al. (1989, 1989) reported a 20-month-old boy with dystopia canthorum, sensorineural deafness, heterochromia iridis, partially albinotic ocular fundi, and partial leukoderma. Cytogenetic studies showed a paracentric inversion (2)(q35q37.3); his parents had normal chromosomes. Ishikiriyama et al. (1989) suggest that the gene for Waardenburg syndrome type 1 may be located on chromosome 2q35 or 2q37.3. Kirkpatrick et al. (1992) described WS type 1 in a child with del(2)(q35q36.2). Because of this report and that of Lin et al. (1992) of deletion of 2q37 without features of WS1, Ishikiriyama (1993) concluded that the WS1 gene is located at 2q35.
Mapping
On the basis of an analysis of mouse and hamster mutants as models for Waardenburg syndrome(s), Asher and Friedman (1990) predicted that the gene(s) would be found to be on chromosome 2q near fibronectin-1 (135600), on chromosome 3p near the protooncogene RAF1 (164760) or 3q near rhodopsin, (RHO; 180380), or on chromosome 4p near the protooncogene KIT (164920).
Foy et al. (1990) demonstrated linkage of the Waardenburg syndrome to placental alkaline phosphatase (ALPP; 171800), which had previously been assigned to 2q37; the peak lod score was 4.76 at a recombination fraction of 0.023. These findings suggest that the distal breakpoint responsible for the paracentric inversion is at the site of the Waardenburg syndrome, namely, 2q37.3. This region of chromosome 2 is homologous to mouse chromosome 1, which contains the 'Splotch' locus (Sp) (PAX3). This patchy pigment mutation is accompanied by a malformation of the inner ear and severe CNS malformation in the homozygote. Whether the heterozygote is deaf is unclear.
In a family with 11 affected individuals spanning 4 generations, Asher et al. (1991) confirmed the assignment of WS1 to 2q. No recombination was found with ALPP at 2q37 or with FN1 (135600) at 2q34-q36. Grundfast et al. (1991) found no obligatory crossovers between WS1 and ALPP. For a collection of families, they obtained a maximum lod of 12.5 at theta = 0.31 for the WS1/ALPP linkage.
Molecular Genetics
Tassabehji et al. (1992) identified variations in the PAX3 gene in 6 of 17 unrelated patients with Waardenburg syndrome type 1 using primers to amplify exons followed by testing for heteroduplex formation on polyacrylamide gels. No variants were seen in any exon in 50 normal controls. In 3 families that were tested, the variant was found to be familial in 2 and apparently de novo in the third. The variant bands showed perfect linkage to WS in the families studied. One family was found to have a heterozygous 18-bp deletion in the central region of exon 2, resulting in loss of amino acids 29 to 34 (606597.0001).
Simultaneously and independently, Baldwin et al. (1992) identified a heterozygous mutation in the PAX3 gene (P50L; 606597.0002) in affected members of a large Brazilian family with Waardenburg syndrome type 1 reported by da-Silva (1991). There were 49 affected persons in 6 generations, and more than 78% of the affected individuals had hearing loss.
Baldwin et al. (1995) described 10 additional mutations in the PAX3 gene in families with WS type 1. Eight of these mutations were in a region of PAX3 where only 1 mutation had previously been described. Taken together with previously reported mutations, these mutations covered essentially the entire PAX3 gene. All but 1 of the mutations were 'private;' only 1 mutation had been reported in 2 apparently unrelated families. Baldwin et al. (1995) also cataloged 16 previously reported mutations and 5 chromosomal abnormalities affecting the 2q35 region that were associated with WS.
### Modifier Genes
Work in the hamster model for Waardenburg syndrome suggested to Asher and Friedman (1990) that modifier genes may account for the intrafamilial variation in phenotype in Waardenburg syndrome.
Reynolds et al. (1996) sought to determine whether the W-index is influenced primarily by allelic variation in the PAX3 disease gene or other major loci, by polygenic background effects, or by all of these potential sources of genetic variation. They studied both WS1-affected individuals and their WS1 unaffected relatives. After adjustment of the W-index for WS1 disease status, segregation analyses by the regression approach indicated major-locus control of this variation, although residual parent-offspring and sib-sib correlations were consistent with additional (possibly polygenic) effects. Separate analyses of WS1-affected and WS1-unaffected individuals suggested that epistatic interactions between disease alleles at the PAX3 WS1 locus and a second major locus influenced variation in dystopia canthorum. Reynolds et al. (1996) suggested that their approach should be applicable for assessing the 'genetic architecture' of variation associated with other genetic diseases.
While mutations in PAX3 seem to be responsible for most, if not all, WS1 cases, it is not clear what accounts for the reduced penetrance of deafness. Stochastic events during development may be the factors that determine whether a person with a PAX3 mutation will be congenitally deaf or not. Alternatively, genetic background, nonrandom environmental factors, or both may be significant. Morell et al. (1997) compared the likelihood for deafness in affected subjects from 24 families with PAX3 mutations and in 7 of the families originally described by Waardenburg. They found evidence that stochastic variation alone does not explain the differences in penetrance of deafness among WS families. Their analyses suggested that genetic background in combination with certain PAX3 alleles may be important factors in the etiology of deafness in WS1.
Genotype/Phenotype Correlations
In a series of patients with Waardenburg syndrome, Tassabehji et al. (1994) found a number of previously unidentified PAX3 mutations. These included a chromosomal deletion, a splice site mutation, and an amino acid substitution that closely corresponded to the molecular changes seen in the 'Splotch-retarded' and 'Splotch-delayed' mouse mutants, respectively. These mutations confirmed that Waardenburg syndrome is produced by gene dosage effects and showed that the phenotypic differences between 'Splotch' mice and humans with Waardenburg syndrome are caused by differences in genetic background rather than different primary effects of the mutations.
Chalepakis et al. (1994) studied the functional consequence of the mutations described in 606597.0001 and 606597.0006 on DNA binding and compared the results with those in the 'Splotch' mouse. Combining the phenotypic features of heterozygous mutants and considering that molecular defects ranging from single point mutations to large deletions cause similar phenotypes, they excluded the possibility that the mutated allele in heterozygotes interferes with the function of the wildtype allele. Contrariwise, they considered both WS and 'Splotch' mutants to represent loss-of-function mutations.
Zlotogora et al. (1995) reported a large kindred in which many individuals had Waardenburg syndrome type 1 caused by a heterozygous mutation in the PAX3 gene (S84F; 606597.0009). However, there was 1 child, born of consanguineous parents, who had a severe phenotype consistent with WS type 3 (148820): this patient was found to be homozygous for the S84F mutation. The child presented with dystopia canthorum, partial albinism, and very severe upper limb defects. Since all Pax3 mutations in mice lead to severe neural tube defects and intrauterine or neonatal death, the survival of the homozygote in this case and the absence of neural tube defects were unexpected.
Ayme and Philip (1995) observed exencephaly in a fetus with possible homozygous Waardenburg syndrome. The fetus was the product of a mating between a gypsy brother and sister, both of whom had Waardenburg syndrome.
Baldwin et al. (1995) stated that their analysis of a total of 30 PAX3 mutations causing WS type 1 or type 3 demonstrated little correlation between genotype and phenotype. Deletions of the entire PAX3 gene resulted in phenotypes indistinguishable from those associated with single-base substitutions in the paired domain or homeodomain of the gene. Moreover, 2 similar mutations in close proximity could result in significantly different phenotypes, WS type 1 in 1 family and WS type 3 in another.
DeStefano et al. (1998) assessed the relationship between phenotype and gene defect in 48 families containing 271 individuals with WS collected by members of the Waardenburg Consortium. They grouped the 42 unique mutations previously identified in the PAX3 gene in these families into 5 mutation categories: amino acid substitution in the paired domain, amino acid substitution in the homeodomain, deletion of the ser-thr-pro-rich region, deletion of the homeodomain and the ser-thr-pro-rich region, and deletion of the entire gene. This classification of mutations was based on the structure of the PAX3 gene and was chosen to group mutations predicted to have similar defects in the gene product. They found that odds for the presence of eye pigment abnormality, white forelock, and skin hypopigmentation were 2, 8, and 5 times greater, respectively, for individuals with deletions of the homeodomain and the pro-ser-thr-rich region compared to individuals with an amino acid substitution in the homeodomain. Odds ratios that differed significantly from 1.0 for these traits may indicate that the gene products resulting from different classes of mutations act differently in the expression of WS. Although a suggestive association was detected for hearing loss with an odds ratio of 2.6 for amino acid substitution in the paired domain compared with amino acid substitution in the homeodomain, this odds ratio did not differ significantly from 1.0.
Pathogenesis
Watanabe et al. (1998) showed that PAX3 transactivates the MITF (156845) promoter. They further showed that PAX3 proteins associated with WS1 in either the paired domain or the homeodomain failed to recognize and transactivate the MITF promoter. These results provided evidence that PAX3 directly regulates MITF, and suggested that the failure of this regulation due to PAX3 mutations causes the auditory-pigmentary symptoms in at least some individuals with WS1.
Bondurand et al. (2000) showed that SOX10 (602229), in synergy with PAX3, strongly activates MITF expression in transfection assays. Transfection experiments revealed that PAX3 and SOX10 interact directly by binding to a proximal region of the MITF promoter containing binding sites for both factors. Mutant SOX10 or PAX3 proteins failed to transactivate this promoter, providing further evidence that the 2 genes act in concert to directly regulate expression of MITF. In situ hybridization experiments carried out in the dominant megacolon (Dom) mouse confirmed that SOX10 dysfunction impaired Mitf expression as well as melanocytic development and survival. The authors hypothesized that interaction between 3 of the genes that are altered in WS could explain the auditory/pigmentary symptoms of this disease.
Population Genetics
Waardenburg syndrome has been described in American blacks (Hansen et al., 1965) and in Maoris (Houghton, 1964) as well as in Europeans.
In the state of South Australia, Waardenburg syndrome is a leading cause of deafness and has a position comparable to porphyria in South Africa, having been introduced by early settlers who had many descendants (Fraser, 1967).
An affected Chinese family was reported by Chew et al. (1968).
In a report from a consortium, Grundfast et al. (1991) concluded that about 56% of WS families are linked to 2q markers. Farrer et al. (1992) estimated that the WS1 gene on chromosome 2 was responsible for approximately 45% of the 44 families in their sample.
Nomenclature
Arias (1971) proposed the delineation of Waardenburg syndrome type 1 and 2 based on the presence or absence of dystopia canthorum. Thus, descriptions of the disorder before this time refer only to 'Waardenburg syndrome' and not to a specific subtype (Pardono et al., 2003; Tamayo et al., 2008).
History
Simpson et al. (1974) and Arias et al. (1975) found a weak suggestion of linkage between Waardenburg syndrome and the ABO locus (110300), known to be located in 9q34. However, Read et al. (1989) excluded linkage to ABO. In a study of 2 large kindreds in northeastern Brazil, da-Silva et al. (1990) could not confirm linkage to ABO. Since a plausible mouse model is 'Steel' (Sl), a dominant mutation on mouse chromosome 10 closely linked to Pep-2, Read et al. (1989) studied polymorphic probes for loci on human chromosome 12 close to PEPB (169900), the human homolog, in 7 families. They excluded a sizable region of 12q as the site of this gene.
Quoting William Harvey's famous observation that 'Nature is nowhere accustomed more openly to display her secret mysteries than in cases where she shows traces of her workings apart from the beaten path,' Duyk et al. (1992) reviewed the forms of deafness, syndromal and nonsyndromal, for which linkage has been established.
INHERITANCE \- Autosomal dominant HEAD & NECK Face \- Smooth philtrum \- Decreased philtrum length Ears \- Congenital sensorineural deafness Eyes \- Laterally displaced inner canthi (dystopia canthorum) (95 to 99%) \- Increased intercanthal distance \- Blepharophimosis \- Hypertelorism \- Heterochromia iridis, complete or partial \- Hypoplastic iris stoma \- Hypopigmented ocular fundus \- Bright blue irides \- Synophrys \- Lower lacrimal dystopia Nose \- Broad, high nasal root \- Wide nasal bridge \- Hypoplastic alae nasi \- Decreased nasal bone length Mouth \- Cleft lip/palate \- Mandibular prognathism CHEST Ribs Sternum Clavicles & Scapulae \- Supernumerary ribs GENITOURINARY External Genitalia (Female) \- Absent vagina (rare) Internal Genitalia (Female) \- Absent uterine adnexa (rare) SKELETAL Skull \- Aplasia of posterior semicircular canal on CT scan Spine \- Sprengel anomaly \- Supernumerary vertebrae SKIN, NAILS, & HAIR Skin \- Congenital partial albinism (leukoderma) on face, trunk, or limbs \- Hypopigmented skin lesions Hair \- White forelock \- White eyelashes and eyebrows \- Bushy eyebrows \- Premature graying of hair NEUROLOGIC Central Nervous System \- Spina bifida (less common) \- Myelomeningocele (less common) MISCELLANEOUS \- Clinical variability seen in Waardenburg syndrome type 1 \- Other variants of Waardenburg syndrome include Waardenburg syndrome type 2 ( 193510 ), Waardenburg syndrome type 3 ( 148820 ), and Waardenburg syndrome type 4 ( 277580 ) MOLECULAR BASIS \- Caused by mutation in the paired box 3 gene (PAX3, 606597.0001 ) ▲ Close
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: Dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: Luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone-binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
*[FSH]: Follicle-stimulating hormone
*[HHAT]: hedgehog acyltransferase
*[Hh]: Hedgehog
*[ABS]: amniotic band syndrome
| WAARDENBURG SYNDROME, TYPE 1 | c3266898 | 30,238 | omim | https://www.omim.org/entry/193500 | 2019-09-22T16:31:57 | {"doid": ["0110948"], "mesh": ["D014849"], "omim": ["193500"], "orphanet": ["3440", "894"], "synonyms": ["Alternative titles", "WAARDENBURG SYNDROME WITH DYSTOPIA CANTHORUM"], "genereviews": ["NBK1531"]} |
A number sign (#) is used with this entry because of evidence that susceptibility to acute infection-induced (herpes-specific) encephalopathy-7 (IIAE7) is caused by heterozygous mutation in the IRF3 gene (603734) on chromosome 19q13.
For a phenotypic description of herpes simplex encephalitis (HSE) and a discussion of genetic heterogeneity of susceptibility to acute infection-induced encephalopathy, see 610551.
Clinical Features
Andersen et al. (2015) reported a 15-year-old girl of Danish descent with herpes simplex virus (HSV) encephalitis. After a week of headache, fever, and confusion, she developed nuchal rigidity, impaired consciousness, and seizures. Cerebrospinal fluid showed mononuclear pleocytosis and was positive for HSV-1. The patient had no previous history of increased susceptibility to infections; she had had routine childhood immunizations with no adverse events.
Mork et al. (2015) reported a 34-year-old Danish man who developed adult-onset HSE. He had continued mild neurologic deficits, but no history of other severe infections. Clinical details were limited.
Inheritance
The transmission pattern of herpes simplex encephalitis in the family reported by Andersen et al. (2015) was consistent with autosomal dominant inheritance with incomplete penetrance.
Molecular Genetics
In a 15-year-old girl of Danish descent with herpes simplex encephalitis, Andersen et al. (2015) identified a heterozygous missense mutation in the IRF3 gene (R285Q; 603734.0001). The mutation, which was found by whole-exome sequencing, was also present in the unaffected father, consistent with incomplete penetrance. Patient peripheral blood cells showed normal expression of the mutant protein, but significantly impaired interferon (see, e.g., IFNB1, 147640) response upon stimulation with synthetic pathogen-associated molecular patterns as well as variably decreased responses to HSV-1, HSV-2, and HSV-8 compared to controls. In vitro functional expression assays in HEK293 cells showed that the mutant protein was not properly phosphorylated at S386 and did not form homodimers upon infection or pathway-specific stimulation. The TLR3 (603029)/TRIF (607601) pathway was most affected. There was no evidence of a dominant-negative effect, and Andersen et al. (2015) postulated that haploinsufficiency was responsible for the phenotype. Expression of wildtype IRF3 in patient cells restored the ability to express IFNB1 in response to infection.
In a 34-year-old Danish man (P2) with adult-onset herpes simplex encephalitis, Mork et al. (2015) identified a heterozygous missense mutation in the IRF3 gene (A277T; 603734.0002). The mutation was found by whole-exome sequencing of a cohort of 16 patients with adult-onset HSE (including the patient reported by Andersen et al., 2015) and confirmed by Sanger sequencing. Patient peripheral blood mononuclear cells showed significantly lower IFNB1, CXCL10 (147310), and TNFA (191160) responses to poly(I;C) stimulation and/or HSV-1 infection compared to controls, suggesting defective antiviral response and a loss of function. The findings suggested that IRF3 variants may also contribute to HSE susceptibility in adults.
Animal Model
Menachery et al. (2010) found that Irf3-null mice had impaired ability to control HSV-1 replication in brain tissue following corneal or intracranial infection compared to wildtype mice. Irf3-null mice had an increased inflammatory cytokine response and decreased interferon production in the brain, resulting in increased lethality. These findings demonstrated a critical role for IRF3 in the control of central nervous system infection following HSV-1 challenge.
INHERITANCE \- Autosomal dominant NEUROLOGIC Central Nervous System \- Acute infectious encephalitis \- Headache \- Fluctuating consciousness \- Seizures \- Nuchal rigidity \- Residual neurologic deficits may occur \- Encephalitis seen on MRI IMMUNOLOGY \- Increased susceptibility to herpes encephalitis (HSV-1) MISCELLANEOUS \- Variable age at onset, range teens to adult \- Two unrelated patients have been reported (last curated March 2018) MOLECULAR BASIS \- Caused by mutation in the interferon regulatory factor-3 gene (IRF3, 603734.0001 ) ▲ Close
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: Dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: Luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone-binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
*[FSH]: Follicle-stimulating hormone
*[HHAT]: hedgehog acyltransferase
*[Hh]: Hedgehog
*[ABS]: amniotic band syndrome
| ENCEPHALOPATHY, ACUTE, INFECTION-INDUCED (HERPES-SPECIFIC), SUSCEPTIBILITY TO, 7 | c0276226 | 30,239 | omim | https://www.omim.org/entry/616532 | 2019-09-22T15:48:37 | {"mesh": ["D020803"], "omim": ["616532"], "orphanet": ["1930"], "synonyms": ["Alternative titles", "HERPES SIMPLEX ENCEPHALITIS, SUSCEPTIBILITY TO, 5"]} |
Spinocerebellar ataxia type 41 is a rare autosomal dominant cerebellar ataxia type III disorder characterized by adult-onset progressive imbalance and loss of coordination associated with an ataxic gait. Mild atrophy of the cerebellar vermis has been reported on brain magnetic resonance imaging.
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: Dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: Luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone-binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
*[FSH]: Follicle-stimulating hormone
*[HHAT]: hedgehog acyltransferase
*[Hh]: Hedgehog
*[ABS]: amniotic band syndrome
| Spinocerebellar ataxia type 41 | c4225158 | 30,240 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=458798 | 2021-01-23T17:28:46 | {"omim": ["616410"], "icd-10": ["G11.2"], "synonyms": ["SCA41"]} |
Fragile X-associated tremor/ataxia syndrome (FXTAS) is characterized by problems with movement and thinking ability (cognition). FXTAS is a late-onset disorder, usually occurring after age 50, and its signs and symptoms worsen with age. This condition affects males more frequently and severely than females. Affected individuals have areas of damage in the part of the brain that controls movement (the cerebellum) and in a type of brain tissue known as white matter, which can be seen with magnetic resonance imaging (MRI). This damage leads to the movement problems and other impairments associated with FXTAS.
The characteristic features of FXTAS are intention tremor, which is trembling or shaking of a limb when trying to perform a voluntary movement such as reaching for an object, and problems with coordination and balance (ataxia). Typically, intention tremors will develop first, followed a few years later by ataxia, although not everyone with FXTAS has both features. Many affected individuals develop other movement problems, such as a pattern of movement abnormalities known as parkinsonism, which includes tremors when not moving (resting tremor), rigidity, and unusually slow movement (bradykinesia). In addition, affected individuals may have reduced sensation, numbness or tingling, pain, or muscle weakness in the lower limbs (peripheral neuropathy). Some people with FXTAS experience problems with the autonomic nervous system, which controls involuntary body functions, leading to the inability to control the bladder or bowel.
People with FXTAS commonly have cognitive disabilities. They may develop short-term memory loss and loss of executive function, which is the ability to plan and implement actions and develop problem-solving strategies. Loss of this function impairs skills such as impulse control, self-monitoring, focusing attention appropriately, and cognitive flexibility. Many people with FXTAS experience anxiety, depression, moodiness, or irritability.
Some women develop immune system disorders, such as hypothyroidism or fibromyalgia, before the signs and symptoms of FXTAS appear.
## Frequency
Studies show that approximately 1 in 450 males has the genetic change that leads to FXTAS, although the condition occurs in only about 40 percent of them. It is estimated that 1 in 3,000 men over age 50 is affected. Similarly, 1 in 200 females has the genetic change, but only an estimated 16 percent of them develop signs and symptoms of FXTAS.
## Causes
Mutations in the FMR1 gene increase the risk of developing FXTAS. The FMR1 gene provides instructions for making a protein called FMRP, which helps regulate the production of other proteins. FMRP plays a role in the development of synapses, which are specialized connections between nerve cells. Synapses are critical for relaying nerve impulses.
Individuals with FXTAS have a mutation in which a DNA segment, known as a CGG triplet repeat, is expanded within the FMR1 gene. Normally, this DNA segment is repeated from 5 to about 40 times. In people with FXTAS, however, the CGG segment is repeated 55 to 200 times. This mutation is known as an FMR1 gene premutation. An expansion of more than 200 repeats, a full mutation, causes a more serious condition called fragile X syndrome, which is characterized by intellectual disability, learning problems, and certain physical features.
For unknown reasons, the premutation leads to the overproduction of abnormal FMR1 mRNA that contains the expanded repeat region. The FMR1 mRNA is the genetic blueprint for the production of FMRP. Researchers believe that the high levels of mRNA cause the signs and symptoms of FXTAS. The mRNA has been found in clumps of proteins and mRNA (intranuclear inclusions) in brain and nerve cells in people with FXTAS. It is thought that attaching to FMR1 mRNA and forming clumps keeps the other proteins from performing their functions, although the effect of the intranuclear inclusions is unclear. In addition, the repeat expansion makes producing FMRP from the mRNA blueprint more difficult, and as a result, people with the FMR1 gene premutation can have less FMRP than normal. A reduction in the protein is not thought to be involved in FXTAS. However, it may cause mild versions of the features seen in fragile X syndrome, such as prominent ears, anxiety, and mood swings.
### Learn more about the gene associated with Fragile X-associated tremor/ataxia syndrome
* FMR1
## Inheritance Pattern
An increased risk of developing FXTAS is inherited in an X-linked dominant pattern. The FMR1 gene is located on the X chromosome, one of the two sex chromosomes. (The Y chromosome is the other sex chromosome.) The inheritance is dominant because one copy of the altered gene in each cell is sufficient to elevate the risk of developing FXTAS. In females (who have two X chromosomes), a mutation in one of the two copies of the FMR1 gene in each cell can lead to the disorder. In males (who have only one X chromosome), a mutation in the only copy of the gene in each cell can result in the disorder. However, not all people who inherit an FMR1 premutation will develop FXTAS. In X-linked dominant disorders, males typically experience more severe symptoms than females.
Fewer females than males develop FXTAS because the X chromosome that contains the premutation may be turned off (inactive) due to a process called X-inactivation. Early in embryonic development in females, one of the two X chromosomes is permanently inactivated in somatic cells (cells other than egg and sperm cells). X-inactivation ensures that females, like males, have only one active copy of the X chromosome in each body cell. Usually X-inactivation occurs randomly, so that each X chromosome is active in about half the body's cells. Sometimes X-inactivation is not random, and one X chromosome is active in more than half of cells. When X-inactivation does not occur randomly, it is called skewed X-inactivation. Researchers suspect that the distribution of active and inactive X chromosomes may help determine the severity of FXTAS in females or whether they develop signs and symptoms of the condition.
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: Dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: Luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone-binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
*[FSH]: Follicle-stimulating hormone
*[HHAT]: hedgehog acyltransferase
*[Hh]: Hedgehog
*[ABS]: amniotic band syndrome
| Fragile X-associated tremor/ataxia syndrome | c1839780 | 30,241 | medlineplus | https://medlineplus.gov/genetics/condition/fragile-x-associated-tremor-ataxia-syndrome/ | 2021-01-27T08:24:46 | {"mesh": ["C564105"], "omim": ["300623"], "synonyms": []} |
Kapur-Toriello syndrome is an extremely rare syndrome characterized by facial dysmorphism, severe intellectual deficiency, cardiac and intestinal anomalies, and growth retardation.
## Epidemiology
Only four cases have been reported in the literature, in three unrelated families.
## Clinical description
Dysmorphic features include bilateral cleft lip and palate, bulbous nasal tip and eye anomalies.
## Genetic counseling
The condition seems to be inherited as an autosomal recessive trait.
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: Dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: Luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone-binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
*[FSH]: Follicle-stimulating hormone
*[HHAT]: hedgehog acyltransferase
*[Hh]: Hedgehog
*[ABS]: amniotic band syndrome
| Kapur-Toriello syndrome | c0796005 | 30,242 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=2328 | 2021-01-23T18:38:08 | {"gard": ["3078"], "mesh": ["C537008"], "omim": ["244300"], "umls": ["C0796005"], "icd-10": ["Q87.8"], "synonyms": ["Cleft lip/palate-facial, eye, heart and intestinal anomalies syndrome"]} |
This article includes a list of general references, but it remains largely unverified because it lacks sufficient corresponding inline citations. Please help to improve this article by introducing more precise citations. (June 2019) (Learn how and when to remove this template message)
This article is an orphan, as no other articles link to it. Please introduce links to this page from related articles; try the Find link tool for suggestions. (June 2019)
HIDEA syndrome
HIDEA syndrome is inherited via an autosomal recessive manner
CausesMutation in P4HTM gene
HIDEA syndrome is a syndrome characterised by hypotonia, intellectual disability and eye abnormalities.[1]
## Contents
* 1 Presentation
* 2 Genetics
* 3 Diagnosis
* 4 Management
* 5 Epidemiology
* 6 History
* 7 References
## Presentation[edit]
This syndrome main causes intellectual disability and affects the eyes, musculoskeletal system and face.
Eyes
* Strabismus
* Difficulty fixing the eyes on an object
Face
Facial features gradually become coarser during childhood
Musculoskeletal system
* Hypotonia
* Planovalgus
* Contractures in elbow joints
* Interphalangeal joint hypermobility
Other associated features include hypoventilation, obstructive and central sleep apnea and dysautonomia.
## Genetics[edit]
This condition is caused by mutations in the Prolyl 4-hydroxylase, transmembrane (P4HTM) gene. This gene is located on the short arm of chromosome 3 (3p21.3).
The inheritance of this condition is autosomal recessive.
## Diagnosis[edit]
The diagnosis may be suspected on clinical grounds.
It is made by sequencing the P4HTM gene.
## Management[edit]
There is presently no curative treatment. Management is supportive.
## Epidemiology[edit]
The prevalence is not known but this is considered to be a rare disease. Only 12 patients have been reported to date.
## History[edit]
This condition was first described in 2014.[2] The causative mutation was discovered in 2019.[3]
## References[edit]
1. ^ Kaasinen E, Rahikkala E, Koivunen P, Miettinen S, Wamelink MM, Aavikko M, Palin K, Myllyharju J, Moilanen JS, Pajunen L, Karhu A, Aaltonen LA (2019) Clinical characterization, genetic mapping and whole-genome sequence analysis of a novel autosomal recessive intellectual disability syndrome. Eur J Med Genet 57(10):543-551
2. ^ Kaasinen E, Rahikkala E, Koivunen P, Miettinen S, Wamelink MM, Aavikko M, Palin K, Myllyharju J, Moilanen JS, Pajunen L, Karhu A, Aaltonen LA (2019) Clinical characterization, genetic mapping and whole-genome sequence analysis of a novel autosomal recessive intellectual disability syndrome. Eur J Med Genet 57(10):543-551
3. ^ Rahikkala E, Myllykoski M, Hinttala R, Vieira P, Nayebzadeh N, Weiss S, Plomp A, Bittner RE, Kurki MI, Kuismin O, Lewis AM, Väisänen ML, Kokkonen H, Westermann J, Bernert G, Tuominen H, Palotie A, Aaltonen L, Yang Y, Potocki L, Moilanen J, van Koningsbruggen S, Wang X, Schmidt WM, Koivunen P, Uusimaa J (2019) Biallelic loss-of-function P4HTM gene variants cause hypotonia, hypoventilation, intellectual disability, dysautonomia, epilepsy, and eye abnormalities (HIDEA syndrome). Genet Med
* v
* t
* e
Medicine
Specialties
and
subspecialties
Surgery
* Cardiac surgery
* Cardiothoracic surgery
* Colorectal surgery
* Eye surgery
* General surgery
* Neurosurgery
* Oral and maxillofacial surgery
* Orthopedic surgery
* Hand surgery
* Otolaryngology
* ENT
* Pediatric surgery
* Plastic surgery
* Reproductive surgery
* Surgical oncology
* Transplant surgery
* Trauma surgery
* Urology
* Andrology
* Vascular surgery
Internal medicine
* Allergy / Immunology
* Angiology
* Cardiology
* Endocrinology
* Gastroenterology
* Hepatology
* Geriatrics
* Hematology
* Hospital medicine
* Infectious disease
* Nephrology
* Oncology
* Pulmonology
* Rheumatology
Obstetrics and gynaecology
* Gynaecology
* Gynecologic oncology
* Maternal–fetal medicine
* Obstetrics
* Reproductive endocrinology and infertility
* Urogynecology
Diagnostic
* Radiology
* Interventional radiology
* Nuclear medicine
* Pathology
* Anatomical
* Clinical pathology
* Clinical chemistry
* Cytopathology
* Medical microbiology
* Transfusion medicine
Other
* Addiction medicine
* Adolescent medicine
* Anesthesiology
* Dermatology
* Disaster medicine
* Diving medicine
* Emergency medicine
* Mass gathering medicine
* Family medicine
* General practice
* Hospital medicine
* Intensive care medicine
* Medical genetics
* Narcology
* Neurology
* Clinical neurophysiology
* Occupational medicine
* Ophthalmology
* Oral medicine
* Pain management
* Palliative care
* Pediatrics
* Neonatology
* Physical medicine and rehabilitation
* PM&R
* Preventive medicine
* Psychiatry
* Addiction psychiatry
* Radiation oncology
* Reproductive medicine
* Sexual medicine
* Sleep medicine
* Sports medicine
* Transplantation medicine
* Tropical medicine
* Travel medicine
* Venereology
Medical education
* Medical school
* Bachelor of Medicine, Bachelor of Surgery
* Bachelor of Medical Sciences
* Master of Medicine
* Master of Surgery
* Doctor of Medicine
* Doctor of Osteopathic Medicine
* MD–PhD
Related topics
* Alternative medicine
* Allied health
* Dentistry
* Podiatry
* Pharmacy
* Physiotherapy
* Molecular oncology
* Nanomedicine
* Personalized medicine
* Public health
* Rural health
* Therapy
* Traditional medicine
* Veterinary medicine
* Physician
* Chief physician
* History of medicine
* Book
* Category
* Commons
* Wikiproject
* Portal
* Outline
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: Dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: Luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone-binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
*[FSH]: Follicle-stimulating hormone
*[HHAT]: hedgehog acyltransferase
*[Hh]: Hedgehog
*[ABS]: amniotic band syndrome
| HIDEA syndrome | None | 30,243 | wikipedia | https://en.wikipedia.org/wiki/HIDEA_syndrome | 2021-01-18T18:51:39 | {"umls": ["CL1371252"], "wikidata": ["Q65063382"]} |
Mouth and genital ulcers with inflamed cartilage syndrome
Other namesMAGIC syndrome
SpecialtyDermatology
Mouth and genital ulcers with inflamed cartilage syndrome (also known as "MAGIC syndrome") is a cutaneous condition with features of both Behçet's disease and relapsing polychondritis.[1][2] Recently there is a question whether these two conditions are linked in the same individual or are two separate disorders. [3]
## See also[edit]
* Cartilage
* Nicolau–Balus syndrome
* List of cutaneous conditions
## References[edit]
1. ^ Rapini RP, Bolognia JL, Jorizzo JL (2007). Dermatology: 2-Volume Set. St. Louis: Mosby. ISBN 978-1-4160-2999-1.
2. ^ Orme RL, Nordlund JJ, Barich L, Brown T (July 1990). "The MAGIC syndrome (mouth and genital ulcers with inflamed cartilage)". Archives of Dermatology. 126 (7): 940–4. doi:10.1001/archderm.1990.01670310102016. PMID 2360844.
3. ^ Pak S, Logemann S, Dee C, Fershko A (October 2017). "Breaking the Magic: Mouth and Genital Ulcers with Inflamed Cartilage Syndrome". Cureus. 9 (10): e1743. doi:10.7759/cureus.1743. PMC 5714402. PMID 29218258.
## External links[edit]
Classification
D
External resources
* Orphanet: 324972
This dermatology article is a stub. You can help Wikipedia by expanding it.
* v
* t
* e
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: Dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: Luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone-binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
*[FSH]: Follicle-stimulating hormone
*[HHAT]: hedgehog acyltransferase
*[Hh]: Hedgehog
*[ABS]: amniotic band syndrome
| Mouth and genital ulcers with inflamed cartilage syndrome | c0406568 | 30,244 | wikipedia | https://en.wikipedia.org/wiki/Mouth_and_genital_ulcers_with_inflamed_cartilage_syndrome | 2021-01-18T18:34:10 | {"gard": ["13371"], "orphanet": ["324972"], "synonyms": ["Mouth and genital ulcers-inflamed cartilage syndrome"], "wikidata": ["Q16937724"]} |
A number sign (#) is used with this entry because cystic leukoencephalopathy without megalencephaly is caused by homozygous or compound heterozygous mutation in the RNASET2 gene (612944) on chromosome 6q27.
Cystic leukoencephalopathy with megalencephaly (604004) is a clinically and genetically distinct disorder.
Clinical Features
Olivier et al. (1998) described 3 Turkish children, including 2 sibs, with cystic leukoencephalopathy observed on brain MRI. Neurologic deficits were noted within the first months of life, and included severe intellectual impairment, motor retardation, and spasticity. Brain MRI showed extensive cysts within the anterior temporal lobes, ventricular enlargement, and white matter disease. The signal intensities of the cysts were identical to those of cerebrospinal fluid. Screening for known inborn errors of metabolism, especially those characterized by white matter involvement, did not reveal any abnormality.
Gomes et al. (2001) reported 2 patients with a 'peculiar leukoencephalopathy with temporal cysts.' Both had a nonprogressive neurologic disorder with mental retardation, microcephaly, and sensorineural deafness. Metabolic disorders with white matter involvement and leukoencephalopathy with vanishing white matter disease (VWM; 603896) were excluded based on clinical, biologic, and imaging findings. Cytomegalovirus infection was considered a possibility in the first case. Gomes et al. (2001) noted the phenotypic similarities to the patients reported by Olivier et al. (1998).
Henneke et al. (2005) reported 15 white infants, including 2 sibs and 2 first cousins, with early onset of severe psychomotor impairment associated with nonprogressive encephalopathy. MRI showed bilateral cysts in the anterior temporal lobe and white matter lesions with pericystic abnormal myelination and symmetric lesions in the periventricular regions. Central white matter structures were spared. Some had ventricular enlargement. Six patients were normocephalic, and 9 had microcephaly. Most achieved walking with aid, but some could only sit or crawl, and most lacked speech development. Other variable features included seizures, spasticity, athetoid hand movements, dystonia, nystagmus, and hearing loss. Three of the children were described as having a 'doll-like face.' The course of the disease was stable or very slowly progressive.
Henneke et al. (2009) reported 7 patients from 5 families with infantile-onset cystic leukoencephalopathy. Affected individuals were asymptomatic at birth but showed a static encephalopathy with normo- or microcephaly and psychomotor impairment within the first year of life, accompanied by seizures and sensorineural hearing impairment. Screening for known inborn or infectious diseases was either negative or inconclusive. Brain MRI showed bilateral anterior temporal lobe cystic lesions and enlarged inferior horns combined with multifocal white matter alterations. CT scans showed intracranial calcifications in some subjects. Five of the patients were over age 10 years at the time of the report, and all showed delayed psychomotor development with a variable ability to sit or walk with or without aid. Speech was often poor. The phenotype could not be differentiated from neonatally asymptomatic congenital CMV brain infection.
Molecular Genetics
By linkage analysis and candidate gene sequencing in 2 consanguineous Turkish families with cystic leukoencephalopathy without megalencephaly, Henneke et al. (2009) identified 2 different homozygous mutations in the RNASET2 gene (612944.0001 and 612944.0002, respectively) that segregated with the disorder. Analysis of 3 additional unrelated individuals with the disorder identified homozygous or compound heterozygous RNASET2 mutations (612944.0003-612944.0006).
INHERITANCE \- Autosomal recessive HEAD & NECK Head \- Microcephaly (some) Face \- Doll-like facies Ears \- Hearing loss, sensorineural Eyes \- Nystagmus NEUROLOGIC Central Nervous System \- Delayed psychomotor development, severe \- Most patients achieve walking with aid \- Poor speech development \- Seizures \- Spasticity \- Athetosis \- Ataxia \- Dystonia \- Leukoencephalopathy \- Multifocal white matter lesions \- Sparing of central white matter structures \- Anterior temporal lobe subcortical cysts \- Pericystic abnormal myelination \- Ventriculomegaly \- Intracranial calcifications LABORATORY ABNORMALITIES \- No evidence of perinatal infection MISCELLANEOUS \- Onset in first year of life \- Phenotype is indistinguishable from congenital cytomegalovirus (CMV) infection \- Stable or slowly progressive course MOLECULAR BASIS \- Caused by mutation in the ribonuclease T2 gene (RNASET2, 612944.0001 ). ▲ Close
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: Dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: Luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone-binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
*[FSH]: Follicle-stimulating hormone
*[HHAT]: hedgehog acyltransferase
*[Hh]: Hedgehog
*[ABS]: amniotic band syndrome
| LEUKOENCEPHALOPATHY, CYSTIC, WITHOUT MEGALENCEPHALY | c2751843 | 30,245 | omim | https://www.omim.org/entry/612951 | 2019-09-22T16:00:12 | {"mesh": ["C567845"], "omim": ["612951"], "orphanet": ["85136"]} |
Connective tissue nevus
Other namesCollagenoma, Elastoma, and Shagreen patch[1]
Storiform collagenoma, H&E stain
SpecialtyDermatology
A connective tissue nevus may be present at birth or appear within the first few years, is elevated, soft to firm, varying from 0.5 to several centimeters in diameter, and may be grouped, linear, or irregularly distributed.[2]:993
## See also[edit]
* Skin lesion
* List of cutaneous conditions
## References[edit]
1. ^ Rapini, Ronald P.; Bolognia, Jean L.; Jorizzo, Joseph L. (2007). Dermatology: 2-Volume Set. St. Louis: Mosby. ISBN 978-1-4160-2999-1.
2. ^ Freedberg, et al. (2003). Fitzpatrick's Dermatology in General Medicine. (6th ed.). McGraw-Hill. ISBN 0-07-138076-0.
## External links[edit]
Classification
D
External resources
* eMedicine: article/1056490
This Dermal and subcutaneous growths article is a stub. You can help Wikipedia by expanding it.
* v
* t
* e
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: Dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: Luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone-binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
*[FSH]: Follicle-stimulating hormone
*[HHAT]: hedgehog acyltransferase
*[Hh]: Hedgehog
*[ABS]: amniotic band syndrome
| Connective tissue nevus | c0334083 | 30,246 | wikipedia | https://en.wikipedia.org/wiki/Connective_tissue_nevus | 2021-01-18T18:31:53 | {"mesh": ["C562737"], "umls": ["C0334083", "C0265978"], "wikidata": ["Q5161704"]} |
A number sign (#) is used with this entry because of evidence that type I xanthinuria (XAN1) is caused by homozygous or compound heterozygous mutation in the gene encoding xanthine dehydrogenase (XDH; 607633) on chromosome 2p23.
Description
Xanthinuria, which was first described by Dent and Philpot (1954), is characterized by excretion of large amounts of xanthine in the urine and a tendency to form xanthine stones. Uric acid is strikingly diminished in serum and urine. Two clinically similar but distinct forms of xanthinuria are recognized. In type I there is an isolated deficiency of xanthine dehydrogenase, and in type II (XAN2; 603592) there is a dual deficiency of xanthine dehydrogenase and aldehyde oxidase (603592). Type I patients can metabolize allopurinol, whereas type II patients cannot (Simmonds et al., 1995). Xanthinuria also occurs in molybdenum cofactor deficiency (252150).
Type II xanthinuria is caused by mutation in the MOCOS gene (613274), which encodes the enzyme that sulfurates the molybdenum cofactor for XDH and AOX1 (602841).
Clinical Features
Dickinson and Smellie (1959) described a well-studied single case, a child of unrelated, unaffected parents. Watts et al. (1964) described a 23-year-old woman in whom the disorder was suspected because of very low serum uric acid. There were no urinary calculi. Enzyme assays showed very little oxidation of both hypoxanthine and xanthine, presumably due to a defect in xanthine oxidase (EC 1.1.3.22), which catalyzes the oxidation of hypoxanthine to xanthine and also of xanthine to uric acid (Engelman et al., 1964; Sperling et al., 1971). Affected brothers have been observed (Wyngaarden, 1978). In the eighth known patient, a black male, studied by Chalmers et al. (1969), crystalline deposits occurred in skeletal muscle. A myopathy with crystalline deposits was described also by Engelman et al. (1964). An increased frequency of xanthinuria was reported in persons of Lebanese ancestry (Frayha et al., 1977).
Mateos et al. (1987) presented evidence of enhanced hypoxanthine salvage in studies of 2 sibs whose parents were first cousins. One, a boy aged 13, had passed multiple brownish-yellow stones during his first year of life and at 2 years of age had right ureteral lithiasis requiring surgical extraction. At age 6, reoperation for multiple pelvic and ureteral xanthine calculi was required. With increased water intake and sodium bicarbonate, he remained asymptomatic. His 22-year-old sister had been in good health since birth. Mateos et al. (1987) presented data indicating that xanthine is mainly derived from GTP to GMP degradation in hereditary xanthinuria both in the basal state and after intravenous fructose. This bypass of the hypoxanthine salvage pathway may explain why xanthine is the predominant urinary purine excreted in xanthinuria.
Maynard and Benson (1988) described hereditary xanthinuria in a 3-year-old Pakistani girl and her 5-year-old sister. The former had end-stage pyelonephritis and nonfunctioning hydronephrotic right kidney due to a xanthine calculus impacted in the right ureter. The older sister, who also had beta-thalassemia, was asymptomatic.
Fildes (1989) observed the unusual occurrence of urolithiasis due to hereditary xanthinuria in a 7-month-old Kuwaiti girl. Renal stones usually occur in older children or in adults.
Roca et al. (1992) reported an 80-year-old man with hereditary xanthinuria. He had coralliform lithiasis of the left kidney and a history of a surgical procedure on the left kidney at the age of 6 years. He also had a form of the Ehlers-Danlos syndrome (see EDS1; 130000).
Mayaudon et al. (1998) described 2 unrelated adults with xanthinuria discovered incidentally because of hypouricemia. One was a 36-year-old man; the second was a 76-year-old woman who was found to have a radiotransparent renal stone.
Molecular Genetics
Ichida et al. (1997) studied 4 individuals with classic xanthinuria to discover the molecular cause of the enzyme deficiency. One subject had a C-to-T transition at nucleotide 682 of the XHD gene that caused an arg228-to-ter nonsense substitution (607633.0001). The duodenal mucosa from this subject had no xanthine dehydrogenase protein, while the mRNA level was not reduced. Two other subjects who were sibs were homozygous for this mutation, while another subject was found to carry the same mutation in heterozygous state. The fourth subject had a deletion of C at nucleotide 2567 in cDNA that was predicted to generate a termination codon from nucleotide 2783 (607633.0002). This subject was homozygous for the mutation and the level of mRNA in the duodenal mucosa was not reduced.
GU \- Xanthine stones \- Hydronephrosis \- Pyelonephritis Muscle \- Myopathy Lab \- Xanthinuria \- Low serum and urine uric acid \- Isolated deficiency of xanthine dehydrogenase \- Crystalline deposits in skeletal muscle Inheritance \- Autosomal recessive ▲ Close
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: Dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: Luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone-binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
*[FSH]: Follicle-stimulating hormone
*[HHAT]: hedgehog acyltransferase
*[Hh]: Hedgehog
*[ABS]: amniotic band syndrome
| XANTHINURIA, TYPE I | c0268118 | 30,247 | omim | https://www.omim.org/entry/278300 | 2019-09-22T16:21:09 | {"doid": ["0060236"], "mesh": ["C562584"], "omim": ["278300"], "orphanet": ["3467", "93601"], "synonyms": ["Xanthic urolithiasis", "XANTHINE DEHYDROGENASE DEFICIENCY", "Alternative titles", "Xanthine stone disease", "Classic xanthinuria", "XDH DEFICIENCY", "XANTHINE OXIDASE DEFICIENCY"]} |
Kamm et al. (1991) described a family in which at least 1 member in each of 5 successive generations had severe proctalgia fugax beginning in the third to fifth decades of life. They studied in detail 3 members of the family demonstrating a 'new' myopathy of the internal anal sphincter. Each affected member had severe pain intermittently during the day and hourly during the night. Clinically the internal anal sphincter was thickened and of decreased compliance. The maximum anal canal pressure was usually increased with marked ultraslow wave activity. One patient showed marked improvement with strip myectomy of the internal anal sphincter; a second was relieved of constipation but had only slight improvement of pain. The hypertrophied muscle showed unique myopathic changes, consisting of vacuolar changes with periodic acid-Schiff-positive polyglycosan bodies in the smooth muscle fibers and increased endomysial fibrosis. Celik et al. (1995) described anorectal ultrasonography, manometry and sensory testing in 3 affected persons from a family with autosomal dominant inheritance of proctalgia fugax. Two affected members had hypertension as well as proctalgia fugax; treatment with the calcium antagonist nifedipine reduced anal tone, decreased the frequency and intensity of anal pain, and returned blood pressure to the normal range.
('Proctalgia fugax' means fleeting pain in the rectum. The same Latin root, fugere (to flee), appears in 'fugitive' and 'centrifugal.')
GI \- Proctalgia fugax \- Intermittent severe rectal pain \- Constipation \- Internal anal sphincter myopathy Inheritance \- Autosomal dominant ▲ Close
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: Dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: Luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone-binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
*[FSH]: Follicle-stimulating hormone
*[HHAT]: hedgehog acyltransferase
*[Hh]: Hedgehog
*[ABS]: amniotic band syndrome
| ANAL SPHINCTER MYOPATHY, INTERNAL | c1862935 | 30,248 | omim | https://www.omim.org/entry/105565 | 2019-09-22T16:45:12 | {"mesh": ["C566287"], "omim": ["105565"], "synonyms": ["Alternative titles", "PROCTALGIA FUGAX DUE TO ANAL SPHINCTER MYOPATHY"]} |
A number sign (#) is used with this entry because of evidence that Pelger-Huet anomaly with mild skeletal anomalies (PHASK) is caused by homozygous or compound heterozygous mutation in the LBR gene (600024) on chromosome 1q42.
Homozygous mutation in the LBR gene can also cause Greenberg dysplasia (215140), a lethal disorder. Heterozygous mutation in LBR can cause Pelger-Huet anomaly (169400).
Description
Pelger-Huet anomaly with mild skeletal anomalies is characterized by abnormal nuclear shape and chromatin organization in blood granulocytes (PHA), short stature, and mild skeletal anomalies (Hoffmann et al., 2002; Borovik et al., 2013). Initial skeletal features may improve with age (Sobreira et al., 2014).
Clinical Features
Hoffmann et al. (2002) reported a family in which parents with PHA and heterozygosity for a founder mutation (600024.0001) in the LBR gene had a son who was presumably homozygous for the mutation. Instead of the hypolobulated neutrophil nuclei with coarse chromatin found in his parents, the son had ovoid neutrophil nuclei. He had presented at 20 months of age with developmental delay, disproportionate body habitus, macrocephaly with prominent forehead, ventricular septal defect, shortened third and fifth metacarpals in the left hand, and shortened third, fourth, and fifth metacarpals in the right hand.
Oosterwijk et al. (2003) identified 11 reported patients with Pelger-Huet anomaly and mild additional features who were presumed homozygotes, including the patients of Haverkamp Begemann and van Lookeren Campagne (1952), Aznar and Vaya (1981), and Hoffmann et al. (2002). The patient reported by Aznar and Vaya (1981) had postaxial polydactyly of all 4 limbs. Oosterwijk et al. (2003) noted that none of these patients had severe skeletal dysplasia or congenital anomalies, early lethality, or skin abnormalities. They suggested that homozygous LBR mutations result in distinct mild (PHA homozygosity) or severe (Greenberg skeletal dysplasia) phenotypes based on allelic heterogeneity.
Borovik et al. (2013) reported a 12-year-old adopted girl, thought to be of northern Chinese origin, who was first seen at age 10 years because of short stature and a possible bone dysplasia. On routine screening, she was found to have PHA with dumbbell-shaped nuclei. She had mild short stature, borderline microcephaly, mild thoracolumbar kyphosis, mild hyperlordosis, mild decreased pronation of the elbows, limited elbow extension, and bilateral shortening of the fourth and fifth metacarpals.. She had normal cognitive development. Sterol analysis on patient cultured lymphoblasts demonstrated trace amounts of cholesta-8,14-dien-3-beta-ol.
Sobreira et al. (2014) described a 15-year-old boy with PHA who was diagnosed at birth with spondylometaphyseal dysplasia. Initial radiographs showed shortened and bowed humeri and femora, with less marked shortening of all other long bones. The radii were also bowed. Metaphyses were widened and irregular, most prominently at the wrist, knees, and ankles. Ulnar metaphyses were cupped. The ribs were mildly shortened. Platyspondyly and ovoid vertebral bodies were present. The pelvis was near normal, with mildly flared ilia. There were no abnormalities of the hands, feet, or skull. Sequential radiographs showed progressive improvement of the metaphyseal changes and resolution of the spine anomalies. There was also decreasing severity of rhizomelic shortening of the long bones. At age 14, he had short stature (-3.4 SD), lumbosacral hyperlordosis, mild limitation of shoulder elevation, minor limitation of wrist extension, minimal brachydactyly, and minor camptodactyly of the intrinsic joints; he also had minor knee flexion contractures and knee valgus. Detectable amounts of cholesta-8,14-dien-3-beta-ol were identified.
Molecular Genetics
By sequence analysis of the LBR gene in an adopted 12-year-old girl with PHA and mild skeletal anomalies, Borovik et al. (2013) identified compound heterozygosity for 2 mutations (600024.0012-600024.0013). The authors noted that the patient had dumbbell-shaped neutrophil nuclei characteristic of heterozygotes, suggesting that one of the mutations does not result in complete loss of LBR protein.
Sobreira et al. (2014) identified compound heterozygous mutations (R76X, 600024.0014 and N547S, 600024.0015) in the LBR gene in a 15-year-old boy with PHA and mild skeletal anomalies. The N547S mutation was present in heterozygosity in the mother and unaffected brothers of the proband, and neither mutation was identified in the father. The mutations were identified by whole-exome sequencing and confirmed by Sanger sequencing.
Animal Model
Hoffmann et al. (2002) stated that Pelger-Huet anomaly was first described in rabbits. Homozygous rabbits show severe chondrodystrophy (Nachtsheim, 1950).
In 2 independent mouse strains with the blood phenotype associated with homozygosity for Pelger-Huet anomaly (Green et al., 1975), Hoffmann et al. (2002) found 1 frameshift and 1 nonsense mutation in Lbr.
Mice with the 'ichthyosis' (ic) phenotype display marked abnormalities in nuclear heterochromatin, similar to those observed in PHA. Shultz et al. (2003) observed that mice homozygous for deleterious mutations at the ic locus present with a blood phenotype similar to PHA and develop other phenotypic abnormalities, including alopecia, variable expression of syndactyly, and hydrocephalus. The ic locus on mouse chromosome 1 shares conserved synteny with the chromosomal location of the human LBR locus on human chromosome 1. Shultz et al. (2003) identified 1 nonsense and 2 frameshift mutations within the Lbr gene of mice homozygous for 1 of 3 independent mutations (ic, icJ, or ic4J, respectively) at the ichthyosis locus. These allelic mutations resulted in a truncated or severely impaired protein. Tissues from mice homozygous for the icJ mutation revealed a complete loss of Lbr protein, as shown by immunofluorescence microscopy and immunoblotting.
History
Stobbe and Jorke (1965) posited that skeletal abnormality apparently does not occur in the human PHA homozygote.
Fishbein and Falletta (1991) described a newborn with Pelger-Huet anomaly associated with multiple congenital anomalies (diaphragmatic hernia, coarse facies, and distal limb anomalies) suggestive of Fryns syndrome. The parents did not have the blood anomaly. The authors stated that PHA in the newborn may be accounted for by a spontaneous mutation, the acquired form of the disease, or false paternity.
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: Dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: Luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone-binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
*[FSH]: Follicle-stimulating hormone
*[HHAT]: hedgehog acyltransferase
*[Hh]: Hedgehog
*[ABS]: amniotic band syndrome
| PELGER-HUET ANOMALY WITH MILD SKELETAL ANOMALIES | None | 30,249 | omim | https://www.omim.org/entry/618019 | 2019-09-22T15:43:54 | {"omim": ["618019"], "orphanet": ["448267"], "synonyms": ["Alternative titles", "REGRESSIVE SPONDYLOMETAPHYSEAL DYSPLASIA"]} |
## Clinical Features
Swanson and Brown (1962) described a family in which 30 persons in 5 generations had 5 triphalangeal digits of each hand and apparently lacked a true thumb. The 'thumb' could not be opposed. No associated internal malformations were detected. Triphalangeal thumb of this type occurs in some cases of the Holt-Oram syndrome (142900), although the thumb, when present, was opposable in the family I reported. Whereas in the cases of Swanson and Brown (1962) the metacarpal of the triphalangeal thumb had only a distal epiphysis, as is normal for metacarpals 2-5, the first metacarpal in the Holt-Oram syndrome shows both a proximal and a distal epiphysis. In 3 of the affected persons, Swanson and Brown (1962) found polydactyly.
Pierce (1974) described nonopposable triphalangeal thumbs in 3 sibs.
Warm et al. (1988) described a family in which 11 members in 4 generations had bilateral nonopposable triphalangeal fingerlike 'thumb.' One person had the defect only unilaterally; the contralateral biphalangeal nailless 'thumb' was hypoplastic. Polydactyly was noted in 2 members but the type could not be determined. Since 3 of the 30 affected persons in the family reported by Swanson and Brown (1962) had polydactyly as well, this may be an integral although variable feature of the disorder. Polydactyly with opposable triphalangeal thumb is probably a distinct disorder (174500).
Inheritance
Qazi and Kassner (1988) suggested that isolated TPT of the nonopposable type is usually autosomal dominant, whereas isolated TPT of the opposable type is more likely to be unilateral and sporadic. Isolated TPT is bilateral in about 90% of cases; whereas bilateral TPT is almost always familial, unilateral TPT is usually sporadic.
Limbs \- Triphalangeal thumb \- Nonopposable thumb \- Polydactyly Radiology \- Metacarpal of triphalangeal thumb has only a distal epiphysis Misc \- Bilateral TPT almost always familial \- Unilateral TPT usually sporadic Inheritance \- Autosomal dominant ▲ Close
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: Dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: Luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone-binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
*[FSH]: Follicle-stimulating hormone
*[HHAT]: hedgehog acyltransferase
*[Hh]: Hedgehog
*[ABS]: amniotic band syndrome
| TRIPHALANGEAL THUMB, NONOPPOSABLE | c2931238 | 30,250 | omim | https://www.omim.org/entry/190600 | 2019-09-22T16:32:16 | {"mesh": ["C536562"], "omim": ["190600"]} |
A number sign (#) is used with this entry because of evidence that a skeletal malformation with features overlapping those of brachydactyly types E and D (BDD; 113200) is caused by heterozygous mutation in the HOXD13 gene (142989) on chromosome 2q31.
Another form of brachydactyly type E, BDE2 (613382), is caused by heterozygous mutation in the PTHLH gene (168470) on chromosome 12p11.
Also see the hypertension and brachydactyly syndrome (112410).
Clinical Features
In type E brachydactyly, shortening of the fingers is mainly in the metacarpals and metatarsals. Wide variability in the number of digits affected occurs from person to person, even in the same family. Male-to-male transmission of type E brachydactyly has been observed (McKusick and Milch, 1964).
Hertzog (1968) suggested that there are at least 3 subtypes of BDE: E1, in which shortening is limited to fourth metacarpals and/or metatarsals (Hortling et al., 1960); E2, in which variable combinations of metacarpals are involved, with shortening also of the first and third distal and the second and fifth middle phalanges (McKusick and Milch, 1964); and E3, a dubious category which may have a variable combination of short metacarpals without phalangeal involvement.
Some individuals with BDE are moderately short of stature and have round facies but do not have ectopic calcification (or ossification), mental retardation or cataract as in pseudohypoparathyroidism (103580) which is otherwise a clinically similar entity. This phenotype occurs with a chromosomal aberration, the XO Turner syndrome. Also see brachydactyly-nystagmus-cerebellar ataxia (Biemond syndrome I), a probable dominant trait. Poznanski et al. (1977) concluded that 'brachydactyly E is indistinguishable radiologically from the PHP-PPHP syndrome'.
Newcombe and Keats (1969) described an extensively affected kindred with a dominant pedigree pattern (their pedigree II) as having peripheral dysostosis. The description resembled that in the family of McKusick and Milch (1964) except for cone epiphyses. The authors thought that the presence of cone epiphyses in their family was a distinguishing feature.
In a family reported by Gorlin and Sedano (1971), type E brachydactyly was associated with multiple impacted teeth. Gorlin and Sedano (1971) gave the designation 'cryptodontic metacarpalia' to type E brachydactyly associated with multiple impacted teeth. The clavicles were unusually straight and short. Whether this is a distinct entity is not clear.
Cytogenetics
Wilson et al. (1995) found a cytogenetically visible de novo deletion of 2q37 in 4 patients in whom brachydactyly type E was combined with mental retardation to produce a picture simulating Albright hereditary osteodystrophy (see 600430). A fifth patient, who was cytogenetically normal, was found to have a microdeletion at 2q37. It is possible that these patients suffered from a contiguous gene syndrome involving the locus for brachydactyly type E and one or more other loci.
Molecular Genetics
Johnson et al. (2003) performed a mutation screen of the HOXD13 gene in a family previously classified as having brachydactyly type E (Brailsford, 1945; Oude Luttikhuis et al., 1996) and identified a heterozygous ser308-to-cys mutation (S308C; 142989.0005). The patients showed selective shortening of metacarpals 3, 4, and 5 and metatarsals 1 and 4, as well as shortening of the distal phalanges of the thumb. The hand phenotype showed wide intrafamilial variation of the features, which overlapped those described in brachydactyly types D (113200) and E. No family member had syndactyly, but foot radiographs of several affected individuals showed an abnormally broad first metatarsal.
Limbs \- Brachydactyly \- Short metacarpals \- Variable short metatarsals Radiology \- Radiologically indistinguishable from the PHP-PPHP syndrome Facies \- Round facies Inheritance \- Autosomal dominant Skel \- Straight and short clavicles Growth \- Moderately short stature Teeth \- Multiple impacted teeth ▲ Close
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: Dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: Luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone-binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
*[FSH]: Follicle-stimulating hormone
*[HHAT]: hedgehog acyltransferase
*[Hh]: Hedgehog
*[ABS]: amniotic band syndrome
| BRACHYDACTYLY, TYPE E1 | c0265312 | 30,251 | omim | https://www.omim.org/entry/113300 | 2019-09-22T16:44:08 | {"doid": ["0110972"], "omim": ["113300"], "orphanet": ["93387"], "synonyms": ["Alternative titles", "BRACHYDACTYLY, TYPE E"]} |
Papular mucinosis of infancy
Other namesCutaneous mucinosis of infancy
SpecialtyDermatology
Papular mucinosis of infancy is a skin condition caused by fibroblasts producing abnormally large amounts of mucopolysaccharides, characterized by skin-colored or translucent papules.[1]:186[2]
## See also[edit]
* Papular mucinosis
* List of cutaneous conditions
## References[edit]
1. ^ James, William D.; Berger, Timothy G.; et al. (2006). Andrews' Diseases of the Skin: clinical Dermatology. Saunders Elsevier. ISBN 978-0-7216-2921-6.
2. ^ Rapini, Ronald P.; Bolognia, Jean L.; Jorizzo, Joseph L. (2007). Dermatology: 2-Volume Set. St. Louis: Mosby. ISBN 978-1-4160-2999-1.
* v
* t
* e
Mucinosis/Lichen myxedematosus
Localized lichen myxedematosus
* Discrete papular lichen myxedematosus
* Acral persistent papular mucinosis
* Self-healing papular mucinosis/Self-healing juvenile cutaneous mucinosis
* Papular mucinosis of infancy
* Atypical lichen myxedematosus
* Atypical tuberous myxedema
* Nodular lichen myxedematosus
Other primary mucinoses
* Cutaneous focal mucinosis
* Cutaneous lupus mucinosis
* Eccrine mucinosis
* Alopecia mucinosa
* Perifollicular mucinosis
* Stiff skin syndrome
* Generalized lichen myxedematosus
Secondary mucinoses
* Basal-cell carcinoma
* Granuloma annulare
This cutaneous condition article is a stub. You can help Wikipedia by expanding it.
* v
* t
* e
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: Dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: Luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone-binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
*[FSH]: Follicle-stimulating hormone
*[HHAT]: hedgehog acyltransferase
*[Hh]: Hedgehog
*[ABS]: amniotic band syndrome
| Papular mucinosis of infancy | c4273966 | 30,252 | wikipedia | https://en.wikipedia.org/wiki/Papular_mucinosis_of_infancy | 2021-01-18T18:29:03 | {"orphanet": ["90395"], "synonyms": ["Cutaneous mucinosis of infancy"], "wikidata": ["Q7133225"]} |
Hydroxyprolinemia is an inherited metabolic condition characterized by elevated levels of the amino acid hydroxyproline in the blood and urine. This condition usually does not cause physical or cognitive abnormalities. Hydroxyprolinemia was initially described in association with intellectual disabilities; however it has also been reported in cognitively normal individuals and is thus thought to be begnin. Hydroxyprolinemia is thought to be an autosomal recessive condition.
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: Dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: Luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone-binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
*[FSH]: Follicle-stimulating hormone
*[HHAT]: hedgehog acyltransferase
*[Hh]: Hedgehog
*[ABS]: amniotic band syndrome
| Hydroxyprolinemia | c0268531 | 30,253 | gard | https://rarediseases.info.nih.gov/diseases/10717/hydroxyprolinemia | 2021-01-18T17:59:56 | {"mesh": ["C562669"], "omim": ["237000"], "umls": ["C0268531"], "synonyms": ["4-hydroxy-L-proline oxidase deficiency", "4 alpha hydroxy-L-proline oxidase deficiency"]} |
A number sign (#) is used with this entry because of evidence that ventricular septal defect-3 (VSD3) is caused by heterozygous mutation in the NKX2-5 gene (600584) on chromosome 5q35.
Description
Ventricular septal defect (VSD) is the most common form of congenital cardiovascular anomaly, occurring in nearly 50% of all infants with a congenital heart defect and accounting for 14 to 16% of cardiac defects that require invasive treatment within the first year of life. Congenital VSDs may occur alone or in combination with other cardiac malformations. Large VSDs that go unrepaired may give rise to cardiac enlargement, congestive heart failure, pulmonary hypertension, Eisenmenger's syndrome, delayed fetal brain development, arrhythmias, and even sudden cardiac death (summary by Wang et al. (2011, 2011)).
Other congenital cardiac defects caused by mutation in the NKX2-5 gene include atrial septal defect with or without atrioventricular conduction defects (ASD7; 108900), tetralogy of Fallot (see TOF, 187500), conotruncal malformations (see 217095), and hypoplastic left heart syndrome (HLHS2; 614435).
For a discussion of genetic heterogeneity of ventricular septal defect, see VSD1 (614429).
Molecular Genetics
Peng et al. (2010) analyzed the NKX2-5 gene in 135 Chinese pediatric patients with nonfamilial congenital cardiac defects and identified a heterozygous missense mutation (P283Q; 600584.0021) in 1 of 82 patients with ventricular septal defect. In addition to VSD, the patient had patent ductus arteriosus and aortic isthmus stenosis.
Chen et al. (2010) analyzed the NKX2-5 gene in 30 patients with nonsyndromic congenital heart defects, including 10 with VSD, 10 with ASD, 8 with VSD combined with ASD, and 2 with atrioventricular septal defects (AVSD). They identified a missense NKX2-5 variant in 1 patient with VSD (600584.0023).
Wang et al. (2011) screened 136 Chinese probands with VSD for mutations in NKX2-5 and identified heterozygosity for a missense mutation (P59A; 600584.0022) in 1 (0.74%) of 136 probands that was not found in 200 ethnically matched controls. The mutation was present in the 6-year-old male proband and his affected 4-year-old sister and 32-year-old affected father; all 3 had isolated VSD without atrioventricular conduction defects. The deceased paternal grandfather and paternal great-aunt both had VSD and atrioventricular block, associated with pulmonary artery stenosis in the former and with atrial septal defect in the latter.
INHERITANCE \- Autosomal dominant CARDIOVASCULAR Heart \- Ventricular septal defect \- Atrial septal defect (in some patients) \- Atrioventricular conduction defect (in some patients) Vascular \- Pulmonary artery stenosis (in some patients) \- Patent ductus arteriosus (in some patients) \- Aortic isthmus stenosis (in some patients) MOLECULAR BASIS \- Caused by mutation in the NK2 homeobox-5 gene (NKX2-5, 600584.0021 ) ▲ Close
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: Dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: Luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone-binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
*[FSH]: Follicle-stimulating hormone
*[HHAT]: hedgehog acyltransferase
*[Hh]: Hedgehog
*[ABS]: amniotic band syndrome
| VENTRICULAR SEPTAL DEFECT 3 | c3280785 | 30,254 | omim | https://www.omim.org/entry/614432 | 2019-09-22T15:55:19 | {"omim": ["614432"]} |
A rare neurologic biological anomaly characterized by persistent elevation of the serum creatine phosphokinase (CK) without any clinical, neurophysical or histopathological evidence of neuromuscular disease using the available laboratory procedures. It is usually an incidental finding, diagnosed after exclusion of other possible causes of elevated CK levels.
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: Dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: Luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone-binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
*[FSH]: Follicle-stimulating hormone
*[HHAT]: hedgehog acyltransferase
*[Hh]: Hedgehog
*[ABS]: amniotic band syndrome
| Isolated asymptomatic elevation of creatine phosphokinase | None | 30,255 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=206599 | 2021-01-23T18:25:20 | {"synonyms": ["Idiopathic asymptomatic hyperCKemia", "Isolated asymptomatic hyperCKemia"]} |
This article is an orphan, as no other articles link to it. Please introduce links to this page from related articles; try the Find link tool for suggestions. (April 2014)
Ametropic amblyopia
Human eye anatomy(retina)
SpecialtyNeurology
Ametropic amblyopia, is a medical condition in which the retina cannot focus on the image of a distant object, a condition often described as reduced visual acuity. This is due to large uncorrected refractive errors in the patient's optic system of the eyes.[1][2] Astigmatism is one of the most frequent causes of ametropic amblyopia.[3]
## References[edit]
1. ^ WK Yip, Wilson; SP Fan, Dorothy (Sep 2007). "Amblyopia: An overview" (PDF). Medical Bulletin. The Hong Kong Medical Diary. 12 (9).
2. ^ "Amblyopia (lazy eye)". Co-operative Group Limited. Archived from the original on 2013-11-09. Retrieved 2013-11-09.
3. ^ CD, Noche (Jul 2011). "Prevalence and etiology of amblyopia of children in Yaoundé, aged 5-15 years". Medical Center Innel, University Mountain Institute.
## Further reading[edit]
* Moseley, Merrick J., et al. "Effectiveness of occlusion therapy in ametropic amblyopia: a pilot study." British Journal of Ophthalmology 81.11 (1997): 956–961.
* Cavazos, H.; et al. (1993). "Ametropic Amblyopia". Strabismus. Informa Plc. 1 (2): 63–67. doi:10.3109/09273979309087719. PMID 21314500.
* Abraham, S. V. "Bilateral ametropic amblyopia." J Pediatr Ophthalmol Strabismus 1 (1964): 57–61.
* Werner, D. B., and W. E. Scott. "Amblyopia case reports--bilateral hypermetropic ametropic amblyopia." Journal of pediatric ophthalmology and strabismus 22.5 (1984): 203–205.
* Moseley, Merrick J; et al. (1997). "Effectiveness of occlusion therapy in ametropic amblyopia: a pilot study". British Journal of Ophthalmology. BMJ Publishing Group Ltd. 81 (11): 956–961. doi:10.1136/bjo.81.11.956. PMC 1722055. PMID 9505818.
This article about an ophthalmic disease is a stub. You can help Wikipedia by expanding it.
* v
* t
* e
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: Dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: Luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone-binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
*[FSH]: Follicle-stimulating hormone
*[HHAT]: hedgehog acyltransferase
*[Hh]: Hedgehog
*[ABS]: amniotic band syndrome
| Ametropic amblyopia | c0152190 | 30,256 | wikipedia | https://en.wikipedia.org/wiki/Ametropic_amblyopia | 2021-01-18T18:46:28 | {"umls": ["C0152190"], "wikidata": ["Q16002876"]} |
A number sign (#) is used with this entry because of evidence that Charcot-Marie-Tooth disease type 2W (CMT2W) is caused by heterozygous mutation in the HARS gene (HARS1; 142810) on chromosome 5q31.
Description
Charcot-Marie-Tooth disease type 2W is an autosomal dominant neurologic disorder characterized by a peripheral neuropathy mainly affecting the lower limbs and resulting in gait difficulties and distal sensory impairment, although most patients also have upper limb involvement. The age at onset is highly variable, ranging from childhood to late adulthood (summary by Safka Brozkova et al., 2015).
For a phenotypic description and a discussion of genetic heterogeneity of axonal CMT, see CMT2A1 (118210).
Clinical Features
Safka Brozkova et al. (2015) reported 23 patients from 4 unrelated families with axonal Charcot-Marie-Tooth disease. The age at onset was highly variable, even within the same family, ranging from childhood to late adulthood (age 62 years). Most patients presented with gait difficulties, steppage gait, or foot deformities; a few presented with pain or hand weakness. Other features included pes cavus, hammer toes, and distal sensory impairment. Upper limbs were rarely affected. Electrophysiologic studies showed normal or mildly decreased nerve conduction velocities.
Inheritance
The transmission pattern of CMT2W in the families reported by Safka Brozkova et al. (2015) was consistent with autosomal dominant inheritance.
Molecular Genetics
In a 64-year-old man with a 15-year history of impaired sensation in the lower extremities and electrophysiologic studies consistent with axonal Charcot-Marie-Tooth disease, Vester et al. (2013) identified a heterozygous missense mutation in the HARS gene (R137Q; 142810.0002). The patient was ascertained from a larger cohort of 363 individuals with peripheral neuropathy. Generation of a yeast strain with deletion of the Hst1 gene (the ortholog of HARS) showed that the R137Q variant could not complement the Hst1 deletion, suggesting that it is a loss-of-function allele. Expression of the R137Q variant specifically in GABA motor nerves of C. elegans caused gross morphologic defects in commissural axons, with failure to reach the dorsal nerve cord, axonal beading, defasciculation, and breaks in the nerve cord. The animals with the variant also showed locomotor defects.
In affected members of 4 unrelated families with autosomal dominant Charcot-Marie-Tooth disease type 2W (CMT2W), Safka Brozkova et al. (2015) identified 4 different heterozygous missense mutations in the HARS gene (142810.0003-142810.0006). The mutations, which were found by a combination of linkage analysis and whole-exome sequencing, segregated with the disorder in the families. All mutations caused a loss of function in yeast complementation assays, and 1 of the mutations was dominantly neurotoxic in a C. elegans model.
INHERITANCE \- Autosomal dominant SKELETAL Feet \- Pes cavus \- Hammertoes MUSCLE, SOFT TISSUES \- Distal muscle weakness of the lower limbs secondary to peripheral neuropathy \- Distal muscle atrophy of the lower limbs secondary to peripheral neuropathy \- Distal muscle weakness of the upper limbs (in some patients) \- Distal muscle atrophy of the upper limbs (in some patients) NEUROLOGIC Peripheral Nervous System \- Impaired gait \- Steppage gait \- Distal sensory impairment \- Brisk patellar reflexes \- Absent ankle reflexes \- Electrophysiologic studies show normal or mildly decreased motor nerve conduction velocities MISCELLANEOUS \- Highly variable age at onset (range childhood to late adult) \- Variable severity MOLECULAR BASIS \- Caused by mutation in the histidyl-tRNA synthetase 1 gene (HARS1, 142810.0002 ) ▲ Close
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: Dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: Luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone-binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
*[FSH]: Follicle-stimulating hormone
*[HHAT]: hedgehog acyltransferase
*[Hh]: Hedgehog
*[ABS]: amniotic band syndrome
| CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2W | c4225265 | 30,257 | omim | https://www.omim.org/entry/616625 | 2019-09-22T15:48:23 | {"doid": ["0110162"], "omim": ["616625"], "orphanet": ["488333"], "synonyms": ["CHARCOT-MARIE-TOOTH NEUROPATHY, TYPE 2W", "Autosomal dominant Charcot-Marie-Tooth disease type 2 due to HARS mutation", "CMT2W", "Alternative titles", "CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL DOMINANT, TYPE 2W"]} |
## Description
PHACE is an acronym for a neurocutaneous syndrome encompassing the following features: posterior fossa brain malformations, hemangiomas of the face (large or complex), arterial anomalies, cardiac anomalies, and eye abnormalities. The association is referred to as PHACES when ventral developmental defects, such as sternal clefting or supraumbilical raphe, are present (summary by Bracken et al., 2011).
Diagnosis
In a consensus statement regarding diagnostic criteria for PHACE syndrome (Metry et al., 2009), the criteria were stratified into 2 categories, PHACE syndrome and possible PHACE syndrome. Definite PHACE syndrome requires the presence of a characteristic segmental hemangioma or hemangioma greater than 5 cm in diameter on the face or scalp plus 1 major criterion or 2 minor criteria involving the cerebrovascular, cardiovascular, or ocular organ systems, the brain structure, or ventral or midline defects. Possible PHACE requires the presence of a hemangioma greater than 5 cm in diameter on the face or scalp plus 1 minor criterion; hemangioma of the neck or upper torso plus 1 major criterion or 2 minor criteria; or no hemangioma plus 2 major criteria.
Clinical Features
Frieden et al. (1996) reported 2 cases of infants with large facial hemangiomas, congenital cataracts, and structural arterial anomalies, particularly of the central nervous system. They also reviewed 41 cases with similar findings from the literature, and proposed the use of the acronym PHACE syndrome.
Coats et al. (1999) described the ophthalmologic features of PHACE syndrome. Their review of the literature revealed that approximately one-third of patients have ocular manifestations, including choroidal hemangiomas, cryptophthalmos, exophthalmos, colobomas, posterior embryotoxon, optic atrophy, microphthalmos, strabismus, and optic nerve hypoplasia. The patient they reported had congenital glaucoma, a feature not previously reported in association with PHACE syndrome, which required surgical management.
Raas-Rothschild et al. (2000) described a baby girl with giant congenital aortic aneurysm, bifid cleft sternum covered with atrophic skin, a midline raphe extending from the abnormal sternum to the umbilicus, and hemangiomas of the lower lip and right ear. They reviewed 2 previously reported cases of giant aortic aneurysm; both had hemangioma and sternal cleft, and one had supraumbilical raphe. Schieken et al. (1987) described a neonate with sternal cleft, cutaneous hemangioma, occlusion of the right innominate artery, and aneurysm of the ascending aorta. This child underwent successful repair of the aneurysm at age 17 months. Pasic et al. (1993) described an adult with aneurysm of the proximal aortic arch involving the innominate artery and the left carotid artery and a sternal cleft with supraumbilical midline raphe, hemangioma of the face and neck, and micrognathia. The patient was still asymptomatic at age 45 years.
Metry et al. (2001) evaluated the spectrum of disease in 14 patients they had evaluated and 116 reported patients meeting criteria for the syndrome. Because 115 of the patients were female, the authors suggested that the disorder may be X-linked dominant with lethality in males. Seventy percent of the patients had only 1 extracutaneous manifestation of the syndrome, most commonly structural or arterial malformations of the brain; however, complete investigations, including MRI and MR angiography, had not been performed in all patients. Several cases of PHACE association had also been misdiagnosed as Sturge-Weber syndrome (185300) when the patients' hemangiomas were mistaken for capillary malformations or port-wine stains. The authors concluded that PHACE association should be considered in any patient with a large, segmental, plaque-like facial hemangioma, and that these patients should have ophthalmologic, neurologic, and cardiac evaluations.
Slavotinek et al. (2002) described a 17-year-old female with possible PHACE syndrome who had a scalp hemangioma, cleft uvula, defect in the upper third of the sternum, cerebral vascular malformations, and rupture of an aortic aneurysm. Oral facial clefting and aortic aneurysms had rarely been reported in PHACE syndrome previously. The aortic aneurysm ruptured after minor trauma at 11 years of age. At 17 years of age, elective repair of a dilated, ectatic aorta was complicated by cerebral ischemia. Vascular anomalies included an aneurysm of the left subclavian artery, atresia of the right carotid artery, and calcified cerebral aneurysms. Although the patient had arachnodactyly and some of the other features associated with Marfan syndrome (154700), she did not fulfill the diagnostic criteria.
Kniestedt et al. (2004) reported 2 girls with a variant of PHACE syndrome with peripapillary excavation in the eye ipsilateral to the orofacial hemangioma: a morning glory disc in 1 girl and a peripapillary staphyloma in the other.
In a prospective cohort study of 1,096 children with hemangiomas, Metry et al. (2006) identified 25 (19.7%) who met the criteria for PHACE out of 127 infants with segmental facial hemangiomas. Compared to previous reports, these PHACE patients had a higher incidence of cerebrovascular and cardiovascular anomalies, 55% and 44%, respectively. Two patients developed acute arterial ischemic stroke during infancy, whereas 2 with cardiovascular anomalies showed documented evidence of normalization, suggesting that both progressive and regressive vascular phenomena may occur in this syndrome.
Hess et al. (2010) reviewed intracranial magnetic resonance angiography and/or computerized tomographic angiography images from 70 children meeting consensus criteria for PHACE syndrome who were known to have arterial lesions in the brain, head, or neck. Fifty-seven percent of the patients had more than 1 form of arteriopathy, with dysgenesis being the most common abnormality (56%), followed by anomalous course or origin (47%), narrowing (39%), and nonvisualization (20%). Primitive embryonic carotid-vertebrobasilar connections were present in 20% of children. Hemangiomas were ipsilateral to arteriopathy in all but 1 case. The frontotemporal and/or mandibular facial segments were involved in 97% of cases, but no other specific associations between arteriopathy location and hemangioma sites were detected. All cases with posterior fossa anomalies had either ICA anomalies or persistent embryonic carotid-basilar connections.
Bracken et al. (2011) performed a retrospective review of clinical and imaging records of a consecutive series of 12 patients, 10 female and 2 male, diagnosed with PHACE syndrome between 1998 and 2009. All patients had a segmental craniofacial hemangioma, which involved the frontotemporal segment in 12 patients, the maxillary segment in 8, mandibular in 5, and frontonasal in 1. The most common extracutaneous abnormalities were neurovascular anomalies, which were present in 10 patients, many of whom had multiple anomalies. The spectrum of arterial anomalies ranged from hypoplasia (9 patients) to ectasia (3 patients), anomalous origin or course (2 patients), and persistent fetal anastomosis (2 patients). Other anomalies found included cardiac anomalies in 3 patients, coarctation of the aorta in 2 patients, and a posterior fossa anomaly and a sternal region anomaly in 1 patient each. Bracken et al. (2011) concluded that intracranial anomalies are the most common extracutaneous feature of PHACE syndrome.
History
The relationship between large facial hemangiomas and underlying cerebrovascular and facial arterial anomalies was first recognized by Pascual-Castroviejo (1978), who reported 7 female patients with facial and scalp hemangiomas. Pascual-Castroviejo (1978) also noted that the hemangiomas were associated with brain anomalies, usually involving the cerebellum, and congenital heart disease. The most severe vascular anomalies occurred on the same side as the hemangiomas.
INHERITANCE \- Isolated cases HEAD & NECK Face \- Facial hemangioma Eyes \- Congenital cataract \- Optic nerve hypoplasia \- Horner's syndrome \- Increased retinal vascularity \- Microphthalmia (ipsilateral to facial hemangioma) \- Optic atrophy CARDIOVASCULAR Heart \- Ventricular septal defect Vascular \- Patent ductus arteriosus \- Coarctation of the aorta \- Steal syndrome \- Aneurysms (internal carotid artery, cerebral artery, subclavian) \- Anomalous branches of internal carotid artery \- Arterial stenosis \- Moya-moya phenomenon \- Aortic aneurysms (ascending or aortic arch) RESPIRATORY Larynx \- Subglottic hemangioma CHEST Ribs Sternum Clavicles & Scapulae \- Sternal clefting \- Sternal pits ABDOMEN External Features \- Supraumbilical abdominal raphe SKIN, NAILS, & HAIR Skin \- Hemangioma, facial, plaque-like NEUROLOGIC Central Nervous System \- Developmental delay \- Dandy-Walker malformation \- Cerebellar hypoplasia \- Seizures \- Migraine headaches (ipsilateral to facial hemangioma) \- Cerebral infarction Dandy-Walker Malformation ENDOCRINE FEATURES \- Lingual thyroid \- Congenital hypothyroidism MISCELLANEOUS \- PHACE is an acronym for Posterior fossa brain malformation, large facial Hemangiomas, Arterial anomalies, Cardiac anomalies and aortic coarctation, and Eye abnormalities \- 87% patients are female ▲ Close
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: Dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: Luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone-binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
*[FSH]: Follicle-stimulating hormone
*[HHAT]: hedgehog acyltransferase
*[Hh]: Hedgehog
*[ABS]: amniotic band syndrome
| PHACE ASSOCIATION | c1847874 | 30,258 | omim | https://www.omim.org/entry/606519 | 2019-09-22T16:10:22 | {"mesh": ["C537892"], "omim": ["606519"], "orphanet": ["42775"], "synonyms": ["Alternative titles", "PHACES ASSOCIATION", "AORTIC ANEURYSM, GIANT CONGENITAL"]} |
A number sign (#) is used with this entry because of evidence that spastic paraplegia, intellectual disability, nystagmus, and obesity (SINO) is caused by heterozygous mutation in the KIDINS220 gene (615759) on chromosome 2p25.
Description
Spastic paraplegia, intellectual disability, nystagmus, and obesity (SINO) is an autosomal dominant neurologic disorder characterized by rapid growth in infancy, global developmental delay, spastic paraplegia, variable ophthalmologic defects, and dysmorphic facial features (summary by Josifova et al., 2016).
Clinical Features
Josifova et al. (2016) reported 3 unrelated children with a similar intellectual disability syndrome. Prenatal ultrasound of all 3 showed dilated lateral ventricles. All had significant growth during the first year of life, resulting in height, weight, and head circumference in the high 90th percentiles. At ages 7, 14, and 15 years, respectively, the 2 older patients remained obese despite normal eating and exercise. Neurologic features included global developmental delay with delayed speech, axial hypotonia, and spastic paraplegia with increased tone and hyperreflexia. One patient was unable to walk independently at age 7 years. The patients had poor visual acuity with nystagmus, hypermetropia, astigmatism in 2, and pale optic discs in 1. Dysmorphic features included brachyplagiocephaly, prominent forehead, full cheeks, and deep-set eyes. Brain imaging showed reduced white matter bulk, delayed myelination, and cerebral atrophy; 1 patient had partial agenesis of the corpus callosum.
Molecular Genetics
In 3 unrelated patients with SINO, Josifova et al. (2016) identified 3 different de novo heterozygous truncating mutations in the KIDINS220 gene. The first 2 mutations (W1350X, 615759.0002; Q1366X, 615759.0002) were found by next-generation sequencing analysis of a targeted gene panel, and the third mutation (c.4530dup; 615759.0003) by whole-exome sequencing. Analysis of cells from the first 2 patients showed that their mutations resulted in the production of truncated proteins that were similar to functional KIDINS220 splice variants with alternative terminal exon splicing as described by Schmieg et al. (2015). These 2 mutations resulted in truncation before the KIM motif, whereas the c.4530dup mutation was predicted to form a truncated protein with the KIM motif. Josifova et al. (2016) suggested that the constitutive expression of these truncated isoforms may interfere with the complex spatiotemporal regulation of splicing of KIDINS220 that is necessary for proper neuronal and neurite development. Three different truncating variants in the KIDINS220 gene were present in 5 unaffected individuals in the ExAC database (September 2015): E1530X, R1736X, and S1740X. These changes also occurred in the last exon of the gene, suggesting that not every loss-of function variant causes the phenotype.
INHERITANCE \- Autosomal dominant GROWTH Height \- Increased height compared to age-matched controls, postnatal Weight \- Obesity, postnatal HEAD & NECK Head \- Enlarged head circumference \- Brachyplagiocephaly \- Prominent forehead Face \- Full cheeks Eyes \- Nystagmus \- Poor visual acuity \- Hypermetropia \- Astigmatism \- Squint \- Esotropia \- Deep-set eyes MUSCLE, SOFT TISSUES \- Axial hypotonia \- Limb hypertonia NEUROLOGIC Central Nervous System \- Delayed psychomotor development \- Intellectual disability \- Delayed speech \- Spastic paraplegia \- Hyperreflexia \- Enlarged lateral ventricles \- Cerebral atrophy \- Reduced white matter volume \- Delayed myelination \- Partial agenesis of the corpus callosum (1 patient) MISCELLANEOUS \- Onset in infancy \- Three unrelated patients have been reported (last curated January, 2017) \- De novo mutation MOLECULAR BASIS \- Caused by mutation in the 220-kD kinase D-interacting substrate gene (KIDINS220, 615759.0001 ) ▲ Close
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: Dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: Luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone-binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
*[FSH]: Follicle-stimulating hormone
*[HHAT]: hedgehog acyltransferase
*[Hh]: Hedgehog
*[ABS]: amniotic band syndrome
| SPASTIC PARAPLEGIA, INTELLECTUAL DISABILITY, NYSTAGMUS, AND OBESITY | c4284592 | 30,259 | omim | https://www.omim.org/entry/617296 | 2019-09-22T15:46:10 | {"omim": ["617296"], "orphanet": ["521390"], "synonyms": ["SINO syndrome"]} |
A number sign (#) is used with this entry because of evidence that central core disease (CCD) and its variants can be caused by heterozygous, homozygous, or compound heterozygous mutation in the ryanodine receptor-1 gene (RYR1; 180901) on chromosome 19q13.
Biallelic mutation in the RYR1 gene can also cause minicore myopathy with external ophthalmoplegia (255320), which tends to be more clinically severe but shows overlapping features with central core disease.
Description
Typical central core disease is a relatively mild congenital myopathy, usually characterized by motor developmental delay and signs of mild proximal weakness most pronounced in the hip girdle musculature. Orthopedic complications, particularly congenital dislocation of the hips and scoliosis, are common, and CCD patients are at risk of having malignant hyperthermia (MHS1; 145600). Onset of CCD is usually in childhood, although adult onset has also been reported, illustrating phenotypic variability (Jungbluth et al., 2009). Some patients can present in utero or at birth with severe congenital myopathy (Bharucha-Goebel et al., 2013).
Clinical Features
Central core disease is one of the conditions that produces the 'floppy infant' (see 205000). Central core disease was the first described (Shy and Magee, 1956) example of a stationary muscle disorder, although the name was not given the entity until later. Five persons in 5 different sibships in 3 generations of the original family were affected. In the family studied by Engel et al. (1961), only the proband had clinical manifestations but his father had the same biochemical abnormality of muscle, namely, one involving the liberation of phosphate from glucose-6-phosphate.
Bethlem et al. (1966) described a nonprogressive myopathy in 3 females of 3 successive generations. The father of the earliest patient may have been affected. Histologic findings of central core disease were found. Muscle cramps followed exercise and no hypotonia was present in infancy--features different from previously reported cases of central core disease. Creatine excretion in the urine was greatly increased. Creatine kinase and oxidative phosphorylation in the muscles were normal. Dubowitz and Roy (1970) described 4 cases in 3 generations. The disorder consisted of slowly progressive weakness after the age of 5 years, resembling limb girdle muscular dystrophy. Only type 1 muscle fibers showed central cores. Isaacs et al. (1975) studied a South African kindred with affected members spanning 5 successive generations. Eng et al. (1978) observed autosomal dominant transmission through 5 generations with two skips in a kindred ascertained through a child with malignant hyperthermia (MHS; 145600). Frank et al. (1978) noted that 4 families with central core disease and malignant hyperthermia had been described and added another familial instance of the combination. Creatine kinase blood levels were increased. In vitro muscle contraction studies with caffeine and halothane identified those susceptible to malignant hyperthermia. See Frank et al. (1980) for the full report.
Gamstorp (1982) stated that this disorder is rare in Scandinavia. She described the case of a girl who at age 2 was found to be clumsy and to have weak hip muscles. Her facial expression was normal. The father 'had never been able to carry a heavy burden upstairs' and he was unable to sit up on a chair without the help of his hands. Muscle biopsy showed central core disease in the father as well as in the daughter, whose disorder had remained stationary to age 8 years. Byrne et al. (1982) described a kindred in which at least 37 members in 5 generations had suffered from CCD.
Fischer et al. (2006) performed muscle CT imaging in 11 CCD patients with RYR1 mutations. All patients showed a distinct homogeneous pattern of muscle involvement, with prominent involvement of the gluteus maximus, medial and anterior compartments of the thigh muscles, and soleus and lateral gastrocnemius muscles of the lower leg. These patterns of muscle involvement differed from those observed in affected members of 2 additional families unlinked to the RYR1 locus. The results suggested genetic heterogeneity in autosomal dominant core myopathies.
Jungbluth et al. (2007) reported a 16-year-old girl with a history of neonatal hypotonia, muscle weakness, and feeding difficulties in the newborn period. She had delayed motor development and lost the ability to stand unsupported at age 14 years. Other features included talipes equinovarus, scoliosis, respiratory insufficiency, and epilepsy. Physical examination showed myopathic facies with extraocular weakness and generalized muscle wasting and weakness. Muscle MRI of the lower limbs showed diffuse involvement of the quadriceps and soleus with relative sparing of the rectus femoris, gracilis, and gastrocnemii. Skeletal muscle biopsy at age 1 year showed hypotrophy of type 1 fibers with centralized nuclei and no necrosis. Core-like structures were not apparent at that time, suggesting a clinical diagnosis of centronuclear myopathy (160150). However, biopsy at age 8 years showed fiber type variation, central nuclei in some fibers, and central loss of oxidative enzyme staining resembling central cores. Molecular analysis excluded a mutation in the DNM2 gene (602378) and identified a heterozygous mutation in the RYR1 gene. Jungbluth et al. (2007) noted that skeletal muscle biopsy findings such as central cores and central nuclei are nonspecific and can occur in genetically distinct disorders, and that the histologic features of disorders associated with mutations in the RYR1 gene may include mixed pathologic features that may also evolve over time.
Jungbluth et al. (2009) reported a 77-year-old man who presented with a 5 to 10-year history of increasing difficulty maintaining an erect posture and complaint of a 'wobbly' spine. He had a stooped posture and had to use 2 sticks to stand upright. He had no weakness in the arms or legs but reported that his legs were sometimes tired. Examination did not show weakness or wasting of distal or proximal limb muscles, and muscle tone and tendon reflexes were normal. Serum creatine kinase was mildly increased. EMG showed a myopathic pattern in the lumbar and lower thoracic paraspinal muscles but normal pattern in limb muscles. Skeletal muscle biopsy from the quadriceps showed fiber size variation, increased internal nucleation, marked type 1 fiber predominance, and defined central and eccentric cores on oxidative stains. Genetic analysis revealed a heterozygous mutation in the RYR1 gene. Jungbluth et al. (2009) noted that the phenotypes associated with RYR1 mutations are highly variable and suggested that genetically determined congenital muscular dystrophies with late onset may be underreported.
### Pathologic Features
Central core disease is characterized pathologically by the presence of central core lesions extending the length of type I muscle fibers. The cores are regions of sarcomeric disorganization, absent mitochondria, and lack of oxidative activity (Quane et al., 1993). Ultrastructural studies show changes in the sarcoplasmic reticulum and t-tubules.
Nemaline myopathy (161800, 256030), a clinically similar myopathy characterized by the presence of rods in muscle fibers, and central core disease have been described in the same family and indeed in the same patient (Afifi et al., 1965, Monnier et al., 2000, Scacheri et al., 2000). It is possible that the 'central core' morphologic change is nonspecific, i.e., may occur with other types of myopathy in addition to the specific entity to which the name can be applied.
Minicore disease (multicore disease) is a distinct autosomal recessive myopathy characterized by multiple core lesions of type I and type II myofibril degeneration, loss of mitochondria, and lack of oxidative activity. Several forms are recognized (see 602771).
Fananapazir et al. (1993) demonstrated that many patients with hypertrophic cardiomyopathy (CMH1; 192600) due to mutation in the beta-myosin heavy chain gene (MYH7; 160760) have histologic changes on soleus muscle biopsy consistent with central core disease. A few of the patients had 'significant muscle weakness' and 2 adults and 3 children from a family with the leu908-to-val mutation of the MYH7 gene were observed to have CCD changes in the soleus muscle with no cardiac hypertrophy as defined by echocardiogram. The histologic hallmark of CCD was the absence of mitochondria in the center of many type I fibers as revealed by light microscopic examination of NADH-stained fresh-frozen skeletal muscle sections. McKenna (1993), who stated that he had never seen clinical evidence of skeletal myopathy in CMH1, doubted the significance of the findings.
Sewry et al. (2002) presented the pathologic features of affected members of 3 families with RYR1 mutations in the C-terminal transmembrane domain. In 1 family, an affected 4-month-old girl had no cores on biopsy and uniform type 1 fibers, whereas her older brother showed classic cores, suggesting that pathologic changes can occur over time. In a second family, the mother had large classic cores on biopsy, whereas her 2 children showed minicores. Sewry et al. (2002) noted the very variable pathologic findings, even within families, and noted that absence of defining features does not exclude the diagnosis of RYR1-associated myopathies.
### Clinical Variability
Ferreiro et al. (2002) reported 3 affected members of a consanguineous Algerian family with central core disease transiently presenting as minicore myopathy. The 3 children presented in infancy with moderate weakness predominant in axial muscles, pelvic girdle and hands, joint hyperlaxity (hand involvement phenotype), and multiple minicores. Muscle biopsies from the 3 patients in adulthood demonstrated typical central core disease with rods; no cores were found in the healthy parents. Genetic analysis identified a homozygous mutation in the RYR1 gene (180901.0021). The family represented the first variant of central core disease with genetically proven recessive inheritance and transient presentation as minicore myopathy.
Tojo et al. (2000) reported a family in which the father had CCD and the son had congenital neuromuscular disease with uniform type 1 fiber (CNMDU1). CNMDU1 is characterized pathologically by the exclusive presence of type 1 muscle fiber (greater than 99%) without any specific structural abnormality such as cores, nemaline bodies, or centrally placed nuclei. Limited sequencing of the RYR1 gene did not reveal mutations. Tojo et al. (2000) concluded that the 2 disorders were related and suggested that cores on biopsy may develop with age.
Clinically, CNMDU1 shares common features with congenital myopathy, including early onset, mild proximal muscle weakness, hypo- or areflexia, normal creatine kinase levels, and myopathic electromyography findings. Sato et al. (2008) identified heterozygous mutations in the RYR1 gene (see, e.g., 180901.0019; 180901.0033-180901.0034) in 4 of 10 Japanese patients with a diagnosis of CNMDU1. The father of 1 patient had the same mutation as his son but was diagnosed with CCD. Sato et al. (2008) noted that distinguishing CCD from CNMDU1 based on clinical features alone is difficult, and that uniform type 1 fibers on biopsy can be found in both disorders. Younger patients may show CNMDU1, whereas older patients in the same family may show CCD, which would suggest that the 2 disorders are part of a phenotypic spectrum. However, no patients have had intermediate pathologic findings of uniform type 1 fibers with cores in a few fibers, suggesting that the 2 disorders may be distinct.
Klein et al. (2012) reported 40 patients from 35 families with myopathy associated with a heterozygous RYR1 mutation. Severity and age at onset were highly variable: onset ranged from reduced fetal movements and polyhydramnios prenatally to adult-onset muscle weakness. Although most patients could walk, only 14 could run. In the same report, Klein et al. (2012) described 46 patients from 36 families with biallelic RYR1 mutations, consistent with autosomal recessive inheritance. All patients with recessive mutations presented within the first 10 years of life, most at birth or prenatally. All had proximal weakness, some had distal weakness, and most had axial and facial weakness. More variable features included feeding difficulties and extraocular muscle involvement. Overall, the clinical features of patients with recessive mutations were more severe than those with dominant mutations. Skeletal muscle biopsies in both groups tended to show type 1 fiber predominance or uniformity and core-like lesions; a few showed minicores. Klein et al. (2012) concluded that biallelic RYR1 mutations are at least as frequent as heterozygous mutations, and that there is marked variability in the clinical and pathologic features of RYR1-associated myopathies.
Bharucha-Goebel et al. (2013) reported 11 patients, including 2 sibs, with severe congenital RYR1-associated myopathy. Four patients had a dominant RYR1 mutation and 7 had recessive mutations. Nine patients had symptoms noted in utero, including decreased fetal movements, polyhydramnios, and intrauterine growth restriction. Variable features present at birth included hypotonia, feeding difficulties, arthrogryposis, hip dislocation, and respiratory insufficiency. Other variable features included kyphoscoliosis, cleft palate, rigid spine, and ophthalmoparesis. All patients had delayed motor milestones, but none showed evidence of intellectual impairment. Skeletal muscle biopsy in those with dominant mutations tended to show classic cores, whereas biopsies in recessive cases were highly variable, showing fibrosis, small fibers, nonspecific myopathic changes, and a predominance of type 1 fibers, with or without ill-defined cores. Imaging tended to show sparing of the rectus femoris muscle. There were no genotype/phenotype correlations, and functional studies of the variants were not performed.
Inheritance
Reports of families with central core disease of muscle by Shy and Magee (1956), Bethlem et al. (1966), Isaacs et al. (1975), Eng et al. (1978), and others support autosomal dominant inheritance. However, cases consistent with autosomal recessive inheritance have also been reported (Manzur et al., 1998, Ferreiro et al., 2002, Jungbluth et al., 2002).
Zhou et al. (2006) presented evidence that the RYR1 gene, mutations in which are the usual cause of central core disease of muscle, undergoes polymorphic, tissue-specific, and developmentally regulated allele silencing and that this can unveil recessive mutations in patients with core myopathies. Their data also suggested that imprinting is a likely mechanism for this phenomenon and that similar mechanisms can play a role in human phenotypic heterogeneity and in irregularities of inheritance patterns.
Mapping
Haan et al. (1990) mapped the CCO gene to 19q12-q13.2 by family linkage studies. Kausch et al. (1991) also mapped the CCD gene to proximal 19q13.1 by linkage to markers.
The work of Mulley et al. (1993) supported the possibility that the CCO gene is an allele at the RYR1 (180901) locus, which maps to the same region of chromosome 19. In a large kindred in which the gene for CCO was segregating, 2-point linkage analysis gave a maximum lod score, between CCO and the RYR1 locus, of 11.8, with no recombination. Recombination was observed between CCO and the markers flanking RYR1.
Molecular Genetics
Zhang et al. (1993) and Quane et al. (1993) identified mutations in the ryanodine receptor-1 gene in patients with central core disease (see e.g. 180901.0003 and 180901.0005).
Lynch et al. (1999) studied a large Mexican kindred in which all affected members suffered from a clinically severe and highly penetrant form of CCD. Sequencing of the entire RYR1 cDNA in an affected member identified a single mutation in the C-terminal transmembrane/luminal domain of the protein (180901.0012). The introduction of this mutation into a recombinant RyR1 protein expressed in HEK293 cells resulted in loss of channel activation by caffeine and halothane and a significant reduction in ryanodine binding. These and additional findings, which pointed to a high basal activity of the mutant Ca(2+) channel, could explain the muscle weakness and muscle atrophy observed in CCD patients in this family.
Jungbluth et al. (2002) reported 3 patients from 2 consanguineous families with symptoms of congenital myopathy, cores on muscle biopsy, and linkage to the RYR1 locus. Molecular genetic studies in 1 family identified a homozygous mutation in the RYR1 gene (180901.0022), suggesting autosomal recessive inheritance.
Scacheri et al. (2000) identified a heterozygous mutation in the RYR1 gene (180901.0030) in affected members of a large family with CCD. Skeletal muscle biopsies from 2 affected individuals showed the presence of central cores in over 85% of myofibers and nemaline rods in 5 to 25% of myofibers. Scacheri et al. (2000) suggested that nemaline bodies may be a secondary feature in CCD.
### Transient Multiminicore Myopathy
In a consanguineous Algerian family with central core disease transiently presenting as minicore myopathy, Ferreiro et al. (2002) found linkage to 19q13, subsequently, in 3 additional families showing a similar phenotype, with a maximum lod score of 5.19 for D19S570. The locus was excluded in 16 other minicore myopathy families with predominantly axial weakness, scoliosis, and respiratory insufficiency ('classic' phenotype (602771)). Genetic analysis identified a homozygous mutation in the RYR1 gene (180901.0021). The group of families studied by Ferreiro et al. (2002) represented the first variant of central core disease with genetically proven recessive inheritance and transient presentation as minicore myopathy.
Animal Model
The involvement of RYR1 mutations in a congenital myopathy is supported by the findings of Takeshima et al. (1994). Mice homozygous for a targeted mutation in the skeletal muscle ryanodine receptor gene died perinatally with gross abnormalities of skeletal muscle. The contractile response to electrical stimulation under physiologic conditions was totally abolished in the mutant muscle, although ryanodine receptors other than the skeletal-muscle type seemed to exist because the response to caffeine was retained. Takeshima et al. (1994) interpreted the results as indicating that the skeletal muscle ryanodine receptor is essential for both muscular maturation and excitation-contraction (E-C) coupling, and that the function of the skeletal muscle receptor during EC coupling cannot be substituted by other subtypes of the receptor.
INHERITANCE \- Autosomal dominant \- Autosomal recessive SKELETAL \- Joint contractures Spine \- Kyphoscoliosis Pelvis \- Congenital dislocation of the hips Feet \- Foot deformities \- Flat feet MUSCLE, SOFT TISSUES \- Muscle weakness, diffuse \- Neonatal hypotonia \- Muscle atrophy \- Type 1 muscle fibers with clearly demarcated central 'core' regions of sarcomeric disorganization, lack of oxidative activity, and absent mitochondria \- Type 1 muscle fiber predominance \- Cores contain densely packed myofilaments \- Cores have abrupt borders within normal regions of the muscle fiber \- Cores extend along length of muscle fiber \- Changes in sarcoplasmic reticulum and t-tubules \- Increased internal nuclei in skeletal muscle fibers \- Nemaline rods may be observed \- Relative sparing of the rectus femoris NEUROLOGIC Central Nervous System \- Delayed motor development MISCELLANEOUS \- Onset in infancy \- Nonprogressive or slowly progressive \- Phenotypic variability \- Autosomal recessive cases have been reported \- Autosomal recessive cases tend to have a more severe phenotype \- Associated with malignant hyperthermia (MHS, 145600 ) \- The relationship of central core disease to moderate multiminicore with hand involvement is unclear, for a description of classic multiminicore disease, see 602771 MOLECULAR BASIS \- Caused by mutations in the ryanodine receptor 1 gene (RYR1, 180901.0003 ) ▲ Close
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: Dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: Luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone-binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
*[FSH]: Follicle-stimulating hormone
*[HHAT]: hedgehog acyltransferase
*[Hh]: Hedgehog
*[ABS]: amniotic band syndrome
| CENTRAL CORE DISEASE OF MUSCLE | c0751951 | 30,260 | omim | https://www.omim.org/entry/117000 | 2019-09-22T16:43:33 | {"doid": ["3529"], "mesh": ["D020512"], "omim": ["117000"], "icd-10": ["G71.2"], "orphanet": ["597", "598", "178145"], "synonyms": ["Alternative titles", "CCO"], "genereviews": ["NBK1391"]} |
## Description
Astigmatism (from the Greek 'a' meaning absence and 'stigma' meaning point) is a condition in which the parallel rays of light entering the eye through the refractive media are not focused on a single point. Both corneal and noncorneal factors contribute to refractive astigmatism. Corneal astigmatism is mainly the result of an aspheric anterior surface of the cornea, which can be measured readily by means of a keratometer; in a small fraction of cases (approximately 1 in 10) the effect is neutralized by the back surface. The curvature of the back surface of the cornea is not considered in most studies, because it is more difficult to measure; moreover, in the case of severe corneal astigmatism, there is evidence that both surfaces have the same configuration. Noncorneal factors are errors in the curvature of the 2 surfaces of the crystalline lens, irregularity in the refractive index of the lens, and an eccentric lens position. Since the cornea is the dominant component of the eye's refracting system, a highly astigmatic cornea is likely to result in a similarly astigmatic ocular refraction (summary by Clementi et al., 1998).
Inheritance
Clementi et al. (1998) reviewed studies beginning early in the 20th century, demonstrating familial aggregation of astigmatism but coming to various conclusions as to mode of inheritance.
Mash et al. (1975) concluded from study of the families of affected subjects that heritability is low; Teikari and O'Donnell (1989) suggested that genetic factors did not contribute to astigmatism, leaving environmental causes as the major contributors.
In a geographically well-defined sample of 125 nuclear families of individuals affected by astigmatism, Clementi et al. (1998) performed complex segregation analysis by the POINTER and COMDS programs. POINTER could not distinguish between alternative genetic models, and only the hypothesis of no familial transmission could be rejected. After inclusion of the severity parameter, COMDS results defined a genetic model for corneal astigmatism and provided evidence for single-major-locus inheritance. These results suggested that genetic linkage studies might be feasible and that they should be limited to multiplex families with severely affected individuals. Autosomal dominant inheritance was favored.
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: Dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: Luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone-binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
*[FSH]: Follicle-stimulating hormone
*[HHAT]: hedgehog acyltransferase
*[Hh]: Hedgehog
*[ABS]: amniotic band syndrome
| ASTIGMATISM | c0004106 | 30,261 | omim | https://www.omim.org/entry/603047 | 2019-09-22T16:13:20 | {"doid": ["11782"], "mesh": ["D001251"], "omim": ["603047"], "icd-9": ["367.2", "367.20"], "icd-10": ["H52.2", "H52.20"]} |
Disease affecting a small percentage of the population
A rare disease is any disease that affects a small percentage of the population. In some parts of the world, an orphan disease is a rare disease whose rarity means there is a lack of a market large enough to gain support and resources for discovering treatments for it, except by the government granting economically advantageous conditions to creating and selling such treatments. Orphan drugs are ones so created or sold.
Most rare diseases are genetic and thus are present throughout the person's entire life, even if symptoms do not immediately appear. Many rare diseases appear early in life, and about 30% of children with rare diseases will die before reaching their fifth birthday.[1] With only three diagnosed patients in 27 years, ribose-5-phosphate isomerase deficiency is considered the rarest known genetic disease.[2]
No single cut-off number has been agreed upon for which a disease is considered rare. A disease may be considered rare in one part of the world, or in a particular group of people, but still be common in another.
The US organisation Global Genes has estimated that more than 300 million people worldwide are living with one of the approximately 7,000 diseases they define as "rare" in the United States.[3]
## Contents
* 1 Definition
* 2 Relationship to orphan diseases
* 3 Prevalence
* 4 Characteristics
* 5 Public research and government policy
* 5.1 United States
* 5.2 United Kingdom
* 6 Public awareness
* 7 See also
* 8 References
* 9 External links
## Definition[edit]
There is no single, widely accepted definition for rare diseases. Some definitions rely solely on the number of people living with a disease, and other definitions include other factors, such as the existence of adequate treatments or the severity of the disease.
In the United States, the Rare Diseases Act of 2002 defines rare disease strictly according to prevalence, specifically "any disease or condition that affects fewer than 200,000 people in the United States",[4] or about 1 in 1,500 people. This definition is essentially the same as that of the Orphan Drug Act of 1983, a federal law that was written to encourage research into rare diseases and possible cures.
In Japan, the legal definition of a rare disease is one that affects fewer than 50,000 patients in Japan, or about 1 in 2,500 people.[5]
However, the European Commission on Public Health defines rare diseases as "life-threatening or chronically debilitating diseases which are of such low prevalence that special combined efforts are needed to address them".[6] The term low prevalence is later defined as generally meaning fewer than 1 in 2,000 people.[7] Diseases that are statistically rare, but not also life-threatening, chronically debilitating, or inadequately treated, are excluded from their definition.
The definitions used in the medical literature and by national health plans are similarly divided, with definitions ranging from 1/1,000 to 1/200,000.[5]
## Relationship to orphan diseases[edit]
Because of definitions that include reference to treatment availability, a lack of resources, and severity of the disease, the term orphan disease is used as a synonym for rare disease.[5] But in the United States and the European Union, "orphan diseases" have a distinct legal meaning.
The United States' Orphan Drug Act includes both rare diseases and any non-rare diseases "for which there is no reasonable expectation that the cost of developing and making available in the United States a drug for such disease or condition will [be] recovered from sales in the United States of such drug" as orphan diseases.[8]
The European Organization for Rare Diseases (EURORDIS) also includes both rare diseases and neglected diseases into a larger category of "orphan diseases".[9]
## Prevalence[edit]
Prevalence (number of people living with a disease at a given moment), rather than incidence (number of new diagnoses in a given year), is used to describe the impact of rare diseases. The Global Genes Project estimates some 300 million people worldwide are affected by a rare disease.
The European Organization for Rare Diseases (EURORDIS) estimates that as many as 5,000 to 7,000 distinct rare diseases exist, and as much as 6% to 8% of the population of the European Union is affected by one.[9] Only about 400 rare diseases have therapies and about 80% have a genetic component according to Rare Genomics Institute.[10]
Rare diseases can vary in prevalence between populations, so a disease that is rare in some populations may be common in others. This is especially true of genetic diseases and infectious diseases. An example is cystic fibrosis, a genetic disease: it is rare in most parts of Asia but relatively common in Europe and in populations of European descent. In smaller communities, the founder effect can result in a disease that is very rare worldwide being prevalent within the smaller community. Many infectious diseases are prevalent in a given geographic area but rare everywhere else. Other diseases, such as many rare forms of cancer, have no apparent pattern of distribution but are simply rare. The classification of other conditions depends in part on the population being studied: All forms of cancer in children are generally considered rare,[11] because so few children develop cancer, but the same cancer in adults may be more common.
About 40 rare diseases have a far higher prevalence in Finland; these are known collectively as Finnish heritage disease. Similarly, there are rare genetic diseases among the Amish religious communities in the US and among ethnically Jewish people.
## Characteristics[edit]
A rare disease is defined as one that affects fewer than 200,000 people across a broad range of possible disorders.[12] Chronic genetic diseases are commonly classified as rare.[12][13] Among numerous possibilities, rare diseases may result from bacterial or viral infections, allergies, chromosome disorders, degenerative and proliferative causes, affecting any body organ.[12] Rare diseases may be chronic or incurable, although many short-term medical conditions are also rare diseases.[12]
## Public research and government policy[edit]
### United States[edit]
The NIH's Office of Rare Diseases Research (ORDR) was established by H.R. 4013/Public Law 107-280 in 2002.[14] H.R. 4014, signed the same day, refers to the "Rare Diseases Orphan Product Development Act".[15] Similar initiatives have been proposed in Europe.[16] The ORDR also runs the Rare Diseases Clinical Research Network (RDCRN). The RDCRN provides support for clinical studies and facilitating collaboration, study enrollment and data sharing.[17]
### United Kingdom[edit]
In 2013, the United Kingdom government published The UK Strategy for Rare Diseases which "aims to ensure no one gets left behind just because they have a rare disease", with 51 recommendations for care and treatment across the UK to be implemented by 2020.[18] Health services in the four constituent countries agreed to adopt implementation plans by 2014, but by October 2016, the Health Service in England had not produced a plan and the all-party parliamentary group on Rare, Genetic and Undiagnosed Conditions produced a report Leaving No One Behind: Why England needs an implementation plan for the UK Strategy for Rare Diseases in February 2017.[19] In March 2017 it was announced that NHS England would develop an implementation plan.[20] In January 2018 NHS England published its Implementation Plan for the UK Strategy for Rare Diseases.[21] In January 2021 the Department of Health and Social Care published the UK Rare Diseases Framework, a policy paper which included a commitment that the four nations would develop action plans, working with the rare disease community, and that "where possible, each nation will aim to publish the action plans in 2021".[22]
## Public awareness[edit]
Rare Disease Day is held in Europe, Canada, and the United States on the last day of February to raise awareness for rare diseases.[23][24][25]
## See also[edit]
* ICD coding for rare diseases
* Health care rationing
* List of rare disease organisations
* Mystery Diagnosis
* Rare Disease Day
* Idiopathic disease
* Undiagnosed Diseases Network
## References[edit]
1. ^ "Rare Diseases". Siope.Eu. 9 June 2009. Archived from the original on 3 December 2012. Retrieved 24 September 2012.
2. ^ Wamelink, M. M.; Grüning, N. M.; Jansen, E. E.; Bluemlein, K.; Lehrach, H.; Jakobs, C.; Ralser, M. (2010). "The difference between rare and exceptionally rare: molecular characterization of ribose 5-phosphate isomerase deficiency". J. Mol. Med. 88 (9): 931–39. doi:10.1007/s00109-010-0634-1. hdl:1871/34686. PMID 20499043. S2CID 10870492.
3. ^ "RARE List". Global Genes. 15 April 2016. Retrieved 15 April 2016.
4. ^ Rare Disease Act of 2002
5. ^ a b c Rare diseases: what are we talking about?
6. ^ "Useful Information on Rare Diseases from an EU Perspective" (PDF). European Commission. Retrieved 19 May 2009.
7. ^ Baldovino S, Moliner AM, Taruscio D, Daina E, Roccatello D (June 2016). "Rare Diseases in Europe: from a Wide to a Local Perspective" (PDF). The Israel Medical Association Journal (Review). 18 (6): 359–63. PMID 27468531.
8. ^ Orphan Drug Act §526(a)(2)
9. ^ a b "Rare Diseases: Understanding This Public Health Priority" (PDF). European Organisation for Rare Diseases (EURORDIS). November 2005. Retrieved 16 May 2009.
10. ^ Sanfilippo, Ana; Lin, Jimmy (2014). Rare Diseases, Diagnosis, Therapies, and Hope. St. Louis, MO: Rare Genomics Institute. p. 6.
11. ^ "02/2009: Rare Cancers on Rare Disease Day". Ecpc-online.org. 28 February 2009. Archived from the original on 26 July 2011. Retrieved 24 September 2012.
12. ^ a b c d "Genetic and Rare Diseases Information Center". National Center for Advancing Translational Sciences, US National Institutes of Health. 2019. Retrieved 12 October 2019.
13. ^ Aymé S, Schmidtke J (December 2007). "Networking for rare diseases: a necessity for Europe". Bundesgesundheitsblatt, Gesundheitsforschung, Gesundheitsschutz. 50 (12): 1477–83. doi:10.1007/s00103-007-0381-9. PMID 18026888. S2CID 36072660.
14. ^ "President Signs Bills into Law".
15. ^ "NORD - National Organization for Rare Disorders, Inc". Archived from the original on 18 June 2008.
16. ^ "OrphaNews Europe : the newsletter of the Rare Disease Task Force".
17. ^ RDCRN
18. ^ The UK Strategy for Rare Diseases (PDF). Department of Health. 2013. Retrieved 26 October 2017.
19. ^ All Party Parliamentary Group on Rare, Genetic and Undiagnosed Conditions (February 2017). Leaving No One Behind: Why England needs an implementation plan for the UK Strategy for Rare Diseases (PDF). Rare Disease UK. Retrieved 29 January 2018.
20. ^ "The Westminster All Party Parliamentary Group on Rare, Genetic and Undiagnosed Conditions". Genetic Alliance UK. Retrieved 26 October 2017.
21. ^ Implementation Plan for the UK Strategy for Rare Diseases (PDF). NHS England. 29 January 2018. Retrieved 29 January 2018.
22. ^ "The UK Rare Diseases Framework". GOV.UK. Department of Health and Social Care. 9 January 2021. Retrieved 12 January 2021.
23. ^ "February 29th Is The First Rare Disease Day". Medical News Today. 28 February 2008. Retrieved 14 February 2009.
24. ^ "Join Us In Observing Rare Disease Day On Feb. 28, 2009!". National Organization for Rare Disorders. Archived from the original on 18 December 2008.
25. ^ "Millions Around World to Observe Rare Disease Day". PR Newswire. 13 February 2009. Retrieved 14 February 2009.[permanent dead link]
## External links[edit]
* Database of rare diseases at GARD, The United States Genetic and Rare Diseases Information Center
* Database of rare diseases at Orphanet
* National Organization for Rare Disorders (United States)
* Rare Disease UK
* Rare diseases search engine
Authority control
* NDL: 00568025
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: Dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: Luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone-binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
*[FSH]: Follicle-stimulating hormone
*[HHAT]: hedgehog acyltransferase
*[Hh]: Hedgehog
*[ABS]: amniotic band syndrome
| Rare disease | c0678236 | 30,262 | wikipedia | https://en.wikipedia.org/wiki/Rare_disease | 2021-01-18T18:54:47 | {"mesh": ["D035583"], "umls": ["C0678236"], "orphanet": ["377794"], "wikidata": ["Q929833"]} |
Cloacal exstrophy
Other namesOmphalocele-cloacal exstrophy-imperforate anus-spinal defect syndrome
SpecialtyMedical genetics
Complicationslimb deformities, open neural tube defects [1]
TreatmentSurgical intervention
Cloacal exstrophy (EC) is a severe birth defect wherein much of the abdominal organs (the bladder and intestines) are exposed. It often causes the splitting of the bladder, genitalia, and the anus. It is sometimes called OEIS complex. [2]
Diagnostic tests can include ultrasound, voiding cystourethrogram (VCUG), intravenous pyelogram (IVP), nuclear renogram, computerized axial tomography (CT scan), and magnetic resonance imaging (MRI).[3] Cloacal exstrophy is a rare birth defect, present in 1/200,000 pregnancies and 1/400,000 live births. It is associated with a defect of the ventral body wall and can be caused by inhibited mesodermal migration.[4] The defect can often be comorbid with spinal bifida and kidney abnormalities. [5]
## See also[edit]
* Bladder exstrophy
## References[edit]
1. ^ Ben‐Neriah, Z., Withers, S., Thomas, M., Toi, A., Chong, K., Pai, A., Velscher, L., Vero, S., Keating, S., Taylor, G. and Chitayat, D. (2007), OEIS complex: prenatal ultrasound and autopsy findings. Ultrasound Obstet Gynecol, 29: 170-177. https://doi.org/10.1002/uog.3874
2. ^ "OMIM Entry - 258040 - OEIS COMPLEX". omim.org. Retrieved 2018-01-29.
3. ^ "G/U Imaging:Home". www.meddean.luc.edu. Retrieved 2018-01-29.
4. ^ Hassan, Moaied A. (May 2018). "OEIS complex with a vesico-enteric fistula". Journal of Pediatric Surgery Case Reports. 35: 45–47. doi:10.1016/j.epsc.2018.05.016.
5. ^ "Omphalocele, exstrophy of the cloaca, imperforate anus, and spinal defects complex". Genetic and Rare Diseases Information Center. US Department of Health & Human Services. "There is a high association with other birth defects, especially spina bifida, which occurs in up to 75% of cases. Omphalocele, a defect of the abdominal wall in the region of the umbilicus, is also common, as are kidney abnormalities."
## External links[edit]
Classification
D
* ICD-10: Q64.1
* OMIM: 258040
External resources
* Orphanet: 93929
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: Dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: Luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone-binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
*[FSH]: Follicle-stimulating hormone
*[HHAT]: hedgehog acyltransferase
*[Hh]: Hedgehog
*[ABS]: amniotic band syndrome
| Cloacal exstrophy | c0345217 | 30,263 | wikipedia | https://en.wikipedia.org/wiki/Cloacal_exstrophy | 2021-01-18T18:43:03 | {"orphanet": ["93929"], "wikidata": ["Q5134736"]} |
This article needs additional citations for verification. Please help improve this article by adding citations to reliable sources. Unsourced material may be challenged and removed.
Find sources: "Neu–Laxova syndrome" – news · newspapers · books · scholar · JSTOR (December 2018) (Learn how and when to remove this template message)
Neu–Laxova syndrome
Other namesNeu-Povysilová syndrome
SpecialtyMedical genetics
Neu–Laxova syndrome (also known as Neu syndrome or Neu-Povysilová syndrome, abbreviated as NLS) is a rare autosomal recessive disorder characterized by severe intrauterine growth restriction and multiple congenital malformations. Neu–Laxova syndrome is a very severe disorder, leading to stillbirth or death shortly after birth. It was first described by Dr. Richard Neu in 1971[1] and Dr. Renata Laxova in 1972[2] as a lethal disorder in siblings with multiple malformations. Neu–Laxova syndrome is an extremely rare disorder with less than 100 cases reported in medical literature.
## Contents
* 1 Signs and symptoms
* 2 Genetics
* 3 Diagnosis
* 4 Treatment
* 5 Prognosis
* 6 References
* 7 External links
## Signs and symptoms[edit]
Neu-Laxova syndrome presents with severe malformations leading to prenatal or neonatal death. Typically, NLS involves characteristic facial features, decreased fetal movements and skin abnormalities.[3] Fetuses or newborns with Neu–Laxova syndrome have typical facial characteristics which include proptosis (bulging eyes) with eyelid malformations, nose malformations, round and gaping mouth, micrognathia (small jaw) and low set or malformed ears. Additional facial malformations may be present, such as cleft lip or cleft palate. Limb malformations are common and involve the fingers (syndactyly), hands or feet. Additionally, edema and flexion deformities are often present. Other features of NLS are severe intrauterine growth restriction, skin abnormalities (ichthyosis and hyperkeratosis) and decreased movement. Malformations in the central nervous system are frequent and may include microcephaly, lissencephaly or microgyria, hypoplasia of the cerebellum and agenesis of the corpus callosum. Other malformations may also be present, such as neural tube defects.[citation needed]
## Genetics[edit]
Neu-Laxova syndrome is a heterogeneous metabolic disorder caused by homozygous or compound heterozygous mutations in one of three genes: PHGDH, PSAT1 and PSPH[4][5] These genes are involved in the serine biosynthesis pathway and are essential for cell proliferation. Mutations in all three genes had been previously identified as the cause of serine-deficiency syndromes. Although there is some clinical overlap between NLS and these neurometabolic disorders, the phenotype in other serine-deficiency disorders is milder.
## Diagnosis[edit]
The diagnosis is usually based on clinical features present at birth. Ultrasound in the second trimester may show abnormalities associates with NLS, including polyhydramnios, intrauterine growth restriction, microcephaly, proptosis and decreased fetal motility.[citation needed]
## Treatment[edit]
Serine and glycine supplementation has shown tentative benefits in those with related serine biosynthesis defects and milder forms of NLS[6]
## Prognosis[edit]
The prognosis is poor; affected individuals are either stillborn or die shortly after birth. The longest survival reported in literature is of 134 days. This syndrome is transmitted as an autosomal recessive disorder and there is a risk for recurrence of 25% in future pregnancies.
## References[edit]
1. ^ Neu, Richard L.; Kajii, Tadashi; Gardner, Lytt I.; Nagyfy, Stephen F.; King, Saddie (March 1, 1971). "A Lethal Syndrome of Microcephaly with Multiple Congenital Anomalies in Three Siblings". Pediatrics. 47 (3): 610–612. PMID 5547878.
2. ^ Laxova, Renata; Ohara, P.T.; Timothy, J.A.D. (March 1972). "A further example of a lethal autosomal recessive condition in sibs". Journal of Intellectual Disability Research. 16 (1–2): 139–143. doi:10.1111/j.1365-2788.1972.tb01585.x. PMID 4671862.
3. ^ Manning, Melanie; Cunniff, Christopher M; Colby, Christopher E; Yasser, Y El-Sayed; Hoyme, H Eugene (March 2004). "Neu–Laxova syndrome: Detailed prenatal diagnostic and post-mortem findings and literature review". American Journal of Medical Genetics Part A. 125A (3): 240–249. doi:10.1002/ajmg.a.20467. PMID 14994231.
4. ^ Shaheen, Ranad; Rahbeeni, Zuhair; Alhashem, Amal; Faqeih, Eissa; Zhao, Qi; Xiong, Yong; Almoisheer, Agaadir; Al-Qattan, Sarah M.; Almadani, Halima A.; Al-Onazi, Noufa; Al-Baqawi, Badi S.; Saleh, Mohammad Ali; Alkuraya, Fowzan S. (June 2014). "Neu-Laxova Syndrome, an Inborn Error of Serine Metabolism, Is Caused by Mutations in PHGDH". American Journal of Human Genetics. 94 (6): 898–904. doi:10.1016/j.ajhg.2014.04.015. PMC 4121479. PMID 24836451.
5. ^ Acuna-Hidalgo, Rocio; Schanze, D.; Kariminejad, A.; Nordgren, A.; Kariminejad, M.H.; Conner, P.; Grigelioniene, G.; Nilsson, D.; Nordenskjöld, M.; Wedell, A.; Freyer, C.; Wredenberg, A.; Wieczorek, D.; Gillessen-Kaesbach, G.; Kayserili, H.; Elcioglu, N.; Ghaderi-Sohi, S.; Goodarzi, P.; Setayesh, H.; van de Vorst, M.; Steehouwer, M.; Pfundt, R.; Krabichler, B.; Curry, C.; MacKenzie, M.G.; Boycott, K.M.; Gilissen, C.; Janecke, A.R.; Hoischen, A.; Zenker, M. (September 2014). "Neu-Laxova Syndrome Is a Heterogeneous Metabolic Disorder Caused by Defects in Enzymes of the L-Serine Biosynthesis Pathway". American Journal of Human Genetics. 95 (3): 285–293. doi:10.1016/j.ajhg.2014.07.012. PMC 4157144. PMID 25152457.
6. ^ Hart, Claire E.; Race, Valerie; Achouri, Younes; Wiame, Elsa; Sharrard, Mark; Olpin, Simon E.; Watkinson, Jennifer; Bonham, James R.; Jaeken, Jaak; Matthijs, Gert; Van Schaftingen, Emile (2007). "Phosphoserine Aminotransferase Deficiency: A Novel Disorder of the Serine Biosynthesis Pathway". The American Journal of Human Genetics. 80 (5): 931–937. doi:10.1086/517888. ISSN 0002-9297. PMC 1852735. PMID 17436247.
## External links[edit]
Classification
D
* ICD-10: Q87.8
* ICD-9-CM: 759.89
* OMIM: 256520 616038
* MeSH: C536405
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: Dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: Luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone-binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
*[FSH]: Follicle-stimulating hormone
*[HHAT]: hedgehog acyltransferase
*[Hh]: Hedgehog
*[ABS]: amniotic band syndrome
| Neu–Laxova syndrome | c0265218 | 30,264 | wikipedia | https://en.wikipedia.org/wiki/Neu%E2%80%93Laxova_syndrome | 2021-01-18T18:40:10 | {"gard": ["102"], "mesh": ["C536405"], "umls": ["C0265218"], "orphanet": ["2671"], "wikidata": ["Q667681"]} |
## Summary
### Clinical characteristics.
Most infants with short-chain acyl-CoA dehydrogenase deficiency (SCADD) identified through newborn screening programs have remained well, and asymptomatic relatives who meet diagnostic criteria are reported. Thus, SCADD is now viewed as a biochemical phenotype rather than a disease. A broad range of clinical findings was originally reported in those with confirmed SCADD, including severe dysmorphic facial features, feeding difficulties / failure to thrive, metabolic acidosis, ketotic hypoglycemia, lethargy, developmental delay, seizures, hypotonia, dystonia, and myopathy. However, individuals with no symptoms were also reported. In a large series of affected individuals detected on metabolic evaluation for developmental delay, 20% had failure to thrive, feeding difficulties, and hypotonia; 22% had seizures; and 30% had hypotonia without seizures. In contrast, the majority of infants with SCADD have been detected by expanded newborn screening, and the great majority of these infants remain asymptomatic. As with other fatty acid oxidation deficiencies, characteristic biochemical findings of SCADD may be absent except during times of physiologic stress such as fasting and illness. A diagnosis of SCADD based on clinical findings should not preclude additional testing to look for other causes.
### Diagnosis/testing.
SCADD has been defined as the presence of:
* Increased butyrylcarnitine (C4) concentrations in plasma and/or increased ethylmalonic acid (EMA) concentrations in urine under non-stressed conditions (on at least two occasions);
AND
* Biallelic ACADS pathogenic variants.
### Management.
Treatment of manifestations: As most individuals with SCADD are asymptomatic, there is no need for treatment. There are no generally accepted recommendations for dietary manipulation or use of carnitine and/or riboflavin supplementation.
Prevention of primary manifestations: No preventive measures are necessary.
Surveillance: Longitudinal follow up of persons with SCADD on a research basis may be helpful in order to more clearly define the natural history over the life span, including annual visits to a metabolic clinic to assess growth and development as well as nutritional status (protein and iron stores, concentration of RBC or plasma essential fatty acids, and plasma carnitine concentration).
### Genetic counseling.
SCADD is inherited in an autosomal recessive manner. At conception, each sib of an individual with SCADD has a 25% chance of inheriting biallelic ACADS pathogenic or susceptibility variants and possibly developing clinical findings associated with SCADD, a 50% chance of being a carrier of an ACADS pathogenic variant, and a 25% chance of not being a carrier. If the pathogenic variants in the family have been identified, carrier testing for at-risk family members is possible, and prenatal testing for a pregnancy at increased risk and preimplantation genetic testing are possible but not necessary and not recommended.
## Diagnosis
Short-chain acyl-CoA dehydrogenase deficiency (SCADD) has been defined as the presence of:
* Increased butyrylcarnitine (C4) concentrations in plasma and/or increased ethylmalonic acid (EMA) concentrations in urine under non-stressed conditions (on at least two occasions)
AND
* Biallelic ACADS pathogenic variants.
Most infants with SCADD identified through newborn screening programs have remained well, and asymptomatic relatives who meet diagnostic criteria are reported. Thus, SCADD is now viewed as a biochemical phenotype rather than a disease. Some affected individuals have been identified through metabolic evaluation for developmental delay. As with other fatty acid oxidation deficiencies, characteristic biochemical findings of SCADD may be absent except during times of physiologic stress such as fasting and illness.
### Suggestive Findings
Short-chain acyl CoA dehydrogenase deficiency (SCADD) should be suspected in infants with a positive newborn screening result and in symptomatic individuals with supportive clinical and laboratory findings.
#### Positive Newborn Screening (NBS) Result
NBS for SCADD is primarily based on acylcarnitine analysis by tandem mass spectrometry to detect elevated blood C4 (butyrylcarnitine).
Note: (1) Normal ranges for isolated C4 vary from state to state, necessitating confirmatory testing consistent with the American College of Medical Genetics (ACMG) ACT Sheet. (2) Isobutyryl-CoA dehydrogenase deficiency (IBDD) that leads to elevation of isobutyrylcarnitine, a C4 species also detectable by NBS, must be distinguished from SCADD by additional laboratory testing.
C4 values above the cutoff reported by the screening laboratory are considered positive and require additional biochemical testing and in most cases molecular genetic testing to establish the diagnosis (see Establishing the Diagnosis).
#### Symptomatic Individuals
For symptomatic individuals who were not identified on NBS, the following nonspecific clinical features and preliminary laboratory findings support a diagnosis of SCADD:
* Clinical findings. Hypotonia, dystonia, seizures, metabolic acidosis associated with illness, and/or hypoglycemia [Corydon et al 2001]
* Preliminary laboratory findings. Increased C4 concentrations in plasma and/or increased ethylmalonic acid (EMA) concentrations in urine on biochemical evaluation
Note: Because elevations of these metabolites individually are not entirely specific to SCADD, follow-up testing to establish or rule out the diagnosis of SCADD is required (see Establishing the Diagnosis).
### Establishing the Diagnosis
The diagnosis of SCADD is established in a proband with typical findings on biochemical testing and confirmed by molecular genetic testing of ACADS with the identification of biallelic pathogenic variants (see Table 1).
Note: Two common variants may lead to the biochemical phenotype, but are not clinically relevant (see Table 1 footnote 4).
Biochemical testing
* Acylcarnitine profile testing is used to confirm C4 elevations.
* Urine acylglycines. A random urine sample can be used to differentiate butyrylglycine and isobutyrylglycine and to detect elevated ethylmalonic acid (EMA) as part of either confirmatory testing after a positive newborn screen or diagnostic testing in older children and adults being evaluated for SCADD.
* Urine organic acids. A random urine sample can be collected to detect EMA and dicarboxylic acids, which may be helpful in confirmation of an abnormal newborn screen or during acute illnesses. Urine organic acid screening in symptomatic older children and adults may reveal elevated EMA [Pedersen et al 2008].
Molecular genetic testing approaches, which depend on the clinical findings, can include a combination of gene-targeted testing (single-gene testing, multigene panel) and comprehensive genomic testing (typically exome sequencing and exome array).
Gene-targeted testing requires that the clinician determine which gene(s) are likely involved, whereas genomic testing does not. Children with the distinctive laboratory findings of SCADD described in Suggestive Findings are likely to be diagnosed using gene-targeted testing (see Option 1), whereas symptomatic individuals with nonspecific supportive clinical and laboratory findings (i.e., who had not undergone NBS or had normal NBS results) in whom the diagnosis of SCADD has not been considered are more likely to be diagnosed using comprehensive genomic testing (see Option 2).
#### Option 1
When NBS results and other laboratory findings suggest the diagnosis of SCADD, molecular genetic testing approaches can include single-gene testing or use of a multigene panel:
* Single-gene testing. Perform sequence analysis first. If clinically necessary and only one or no pathogenic variant is found, gene-targeted deletion/duplication analysis could be considered; however, to date no large deletions or complex rearrangements involving ACADS have been reported for SCADD.
Note: Two common ACADS variants, c.511C>T and c.625G>A, result in the SCADD biochemical abnormality when in trans with a pathogenic variant. Newborns homozygous for the c.625G>A variant have laboratory test values that overlap with those of affected (i.e., with 2 pathogenic variants) newborns. These variants are not associated with clinical manifestations of SCADD.
* A multigene panel that includes ACADS and other genes of interest (see Differential Diagnosis) is most likely to identify the genetic cause of the condition at the most reasonable cost while limiting identification of variants of uncertain significance and pathogenic variants in genes that do not explain the underlying phenotype. Note: (1) The genes included in the panel and the diagnostic sensitivity of the testing used for each gene vary by laboratory and are likely to change over time. (2) Some multigene panels may include genes not associated with the condition discussed in this GeneReview. (3) In some laboratories, panel options may include a custom laboratory-designed panel and/or custom phenotype-focused exome analysis that includes genes specified by the clinician. (4) Methods used in a panel may include sequence analysis, deletion/duplication analysis, and/or other non-sequencing-based tests.
For an introduction to multigene panels click here. More detailed information for clinicians ordering genetic tests can be found here.
#### Option 2
When the diagnosis of SCADD has not been considered, comprehensive genomic testing (which does not require the clinician to determine which gene[s] are likely involved) is the best option. Exome sequencing is most commonly used; genome sequencing is also possible. Exome array (when clinically available) may be considered if exome sequencing is not diagnostic; however, to date no large deletions or complex rearrangements involving ACADS have been reported for SCADD.
For an introduction to comprehensive genomic testing click here. More detailed information for clinicians ordering genomic testing can be found here.
### Table 1.
Molecular Genetic Testing Used in SCADD
View in own window
Gene 1MethodProportion of Pathogenic Variants 2 Detectable by Method
ACADSSequence analysis 3~100% 4
Gene-targeted deletion/duplication analysis 5Unknown6
1\.
See Table A. Genes and Databases for chromosome locus and protein.
2\.
See Molecular Genetics for information on allelic variants detected in this gene.
3\.
Sequence analysis detects variants that are benign, likely benign, of uncertain significance, likely pathogenic, or pathogenic. Pathogenic variants may include small intragenic deletions/insertions and missense, nonsense, and splice site variants; typically, exon or whole-gene deletions/duplications are not detected. For issues to consider in interpretation of sequence analysis results, click here.
4\.
In individuals with biochemical findings consistent with the diagnosis of SCADD [van Maldegem et al 2006, Pedersen et al 2008, Gallant et al 2012]. Most infants with newborn screen results consistent with SCADD are either homozygous for a pathogenic variant on both ACADS alleles or compound heterozygous for a pathogenic variant on one allele and a c.511C>T or c.625G>A variant on the other allele [Lindner et al 2010]; however, newborns homozygous for the c.625G>A variant have laboratory test values that overlap with those of affected (i.e., with 2 pathogenic variants) newborns.
5\.
Gene-targeted deletion/duplication analysis detects intragenic deletions or duplications. Methods used may include quantitative PCR, long-range PCR, multiplex ligation-dependent probe amplification (MLPA), and a gene-targeted microarray designed to detect single-exon deletions or duplications.
6\.
Most studies have performed only sequence analysis; therefore, no data on detection rate of gene-targeted deletion/duplication analysis are available. Given the proposed mechanism of disease, such events are likely to be rare.
## Clinical Characteristics
### Clinical Description
A broad range of clinical findings was originally reported in those with confirmed short-chain acyl-coA dehydrogenase deficiency (SCADD), including severe dysmorphic facial features, feeding difficulties / failure to thrive, metabolic acidosis, ketotic hypoglycemia, lethargy, developmental delay, seizures, hypotonia, dystonia, and myopathy. However, individuals with no symptoms were also reported.
SCADD was first reported in two neonates who had increased urinary ethylmalonic acid (EMA) excretion; the diagnosis was confirmed enzymatically in skin fibroblasts [Amendt et al 1987]. One of these infants died of overwhelming neonatal acidosis as would be typical of an organic acidemia. However, over the last 20 years more experience with the natural history of SCADD in persons with the biochemical phenotype has identified a much broader phenotypic spectrum than originally anticipated.
Since most infants with SCADD identified through newborn screening programs have been well at the time of diagnosis, the reported relationship of clinical manifestations to the deficiency of SCAD has come into question [Waisbren et al 2008]. Most recent publications based on newborn screening identification have suggested that SCADD causes only a biochemical phenotype that is not clinically relevant, although occasional publications demonstrating some cellular phenotype related to SCADD still appear in the literature [van Maldegem et al 2006, Jethva et al 2008, van Maldegem et al 2010c, Gallant et al 2012, Tonin et al 2016, Nochi et al 2017].
The most convincing study on the clinical relevance of SCADD was reported in 76 babies out of 2,632,058 screened in California over a five-year period [Gallant et al 2012]. Clinical follow up was available on 31 infants, none of whom had any findings suggestive of a metabolic disorder. Seven of these babies with available molecular information were homozygous or compound heterozygous for two pathogenic variants, eight had one pathogenic variant and either the c.511C>T or c.625G>A variant (see Table 1), and seven had two alleles that were either c.511C>T or c.625G>A. In an additional study of 12 individuals with biochemical findings suggestive of SCADD, ten were identified before age three weeks; all were either asymptomatic or reported to have mild hypotonia [Tonin et al 2016]. Two older individuals with variable symptoms were shown only to have the common benign polymorphisms.
All older reports on SCADD identified symptomatic individuals retrospectively; many of such reports did not differentiate between true deficiency and the presence of the c.511C>T or c.625G>A variant. Pedersen et al [2008] summarized the findings in 114 individuals, mostly children undergoing metabolic evaluation for developmental delay. Among the 114 with developmental delay, three subgroups were identified:
* 23 (20%) with failure to thrive, feeding difficulties, and hypotonia
* 25 (22%) with seizures
* 34 (30%) with hypotonia without seizures
Four individuals were asymptomatic, identified either through family studies or newborn screening programs.
In a retrospective study from the Netherlands, van Maldegem et al [2006] identified 31 individuals who met the biochemical and molecular diagnostic criteria for SCADD and also had sufficient information on health and development. The most frequently reported clinical findings were developmental delay (16; designated as "non-severe" in 15), epilepsy (11; non-severe in all), behavioral disorder (8; non-severe in 5), and history of hypoglycemia (6; non-severe in 5). Follow up ranged from one to 18 years: two had progressive clinical deterioration, 12 had no change in clinical findings, eight improved, and nine had complete recovery. In addition, three parents and six sibs were found to have ACADS genotypes identical to the proband; eight of the nine had increased levels of C4 and/or EMA, and one of the six sibs had transient feeding difficulties in the first year.
In a study of ten affected individuals of Ashkenazi Jewish ancestry, eight had developmental delay and four had muscle biopsy-proven multiminicore myopathy [Tein et al 2008]. It has been noted that persons with SCADD with a myopathy reported as multiminicore disease had not undergone a full evaluation and may have had another unrelated cause for their muscle disease such as pathogenic variants in RYR1 or SELENON (SEPN1) [van Maldegem et al 2010c].
As in other fatty acid oxidation disorders, characteristic biochemical findings of SCADD may be absent in affected individuals except during times of physiologic stress including fasting and illness [Bok et al 2003, Pedersen et al 2008]. In addition, manifestations early in life that could be attributed to SCADD appear to resolve completely during long-term follow up for most individuals diagnosed with SCAD.
Individuals with biallelic common variants (c.511C>T and c.625G>A) are so prevalent in the general population that this finding cannot represent a significant risk for clinical disease (see Molecular Genetics). Individuals with an inactivating pathogenic variant on one allele and one of these variants on the other have enzymatic dysfunction that falls between the those with biallelic common variants and those with biallelic inactivating variants. However, California newborn screening data showed that these babies remained asymptomatic [Gallant et al 2012].
Pregnancy-related issues. Acute fatty liver of pregnancy (AFLP), preeclampsia, and/or HELLP syndrome in mothers of affected fetuses have been described, but causation has not been established [Matern et al 2001, Bok et al 2003, van Maldegem et al 2010c].
### Genotype-Phenotype Correlations
No consistent clinical phenotype-genotype correlations have been observed. However, data have suggested a correlation between urinary levels of biomarkers (ethylmalonic acid and methylsuccinic acid) and presence of biallelic pathogenic variants versus one pathogenic and either the c.511C>T or c.625G>A variant on each allele [Gallant et al 2012].
### Prevalence
Using fairly strict biochemical and molecular criteria, a birth prevalence of at least 1:50,000 has been estimated in the Netherlands [van Maldegem et al 2006]. A prevalence of 1:34,632 or approximately 1:35,000 was calculated from California data for the incidence in the US [Gallant et al 2012].
SCADD appears to be pan ethnic.
## Differential Diagnosis
Other disorders to consider in the differential diagnosis:
* Isobutyryl-CoA dehydrogenase deficiency (IBDD) (OMIM 611283). IBDD, also detectable by NBS, leads to elevation of isobutyrylcarnitine, a C4 species indistinguishable from butyrylcarntine without additional separation techniques. IBDD presents with relatively mild and nonspecific hypotonia and is most often asymptomatic at birth. Thus, it is clinically identical to short-chain acyl-CoA dehydrogenase deficiency (SCADD) in newborns. IBDD is caused by biallelic variants in ACAD8.
* Glutaric acidemia type II (GAII), also known as multiple acyl-CoA dehydrogenase deficiency (MADD), can present with ethylmalonic acid in urine and C4 in blood but has distinguishing biochemical characteristics related to secondary deficiencies of all of the fatty acyl-CoA dehydrogenases. This disorder is caused by biallelic variants in one of three genes: ETFA, ETFB, or ETFDH.
* Ethylmalonic encephalopathy (OMIM 602473) presents with ethylmalonic acid in urine at much higher levels than in SCADD. C4 may be higher, but as in GAII, other metabolites may be elevated. The clinical characteristics of orthostatic acrocyanosis, petechiae, and severe neurologic symptoms distinguish it from SCADD. This disorder is caused by biallelic variants in ETHE1.
* Mitochondrial respiratory chain defects are a group of pleotropic disorders that may show mild elevation of ethylmalonic acid in urine and C4 in blood. In practice, these disorders may be the most difficult to distinguish from SCADD, and in minimally symptomatic individuals without lactic acidemia, molecular testing may be necessary to establish a diagnosis.
* Jamaican vomiting sickness. This condition, characterized by acute hypoglycemia, is caused by eating the unripe ackee fruit, which contains an inhibitor of the acyl-CoA dehydrogenases. The effect is most pronounced for long-chain and medium-chain enzymes, and thus, while small amounts of short-chain organic acids may be seen in urine, the biochemical diagnosis is straightforward.
## Management
To establish the extent of disease and needs in an individual diagnosed with short-chain acyl-coA dehydrogenase deficiency (SCADD), the evaluations summarized in this section (if not performed as part of the evaluation that led to the diagnosis) are recommended.
### Evaluations Following Initial Diagnosis
Once a molecular diagnosis of SCAD deficiency is made, there is no need for additional clinical evaluation or further follow up.
### Treatment of Manifestations
Since SCADD is now viewed as a biochemical phenotype rather than a disease, there is no need for treatment.
Given the paucity of research, especially long-term follow-up studies, enrollment in a long-term follow-up study with a biochemical geneticist can be offered.
### Prevention of Primary Manifestations
Preventive measures if necessary include avoidance of fasting longer than 12 hours (during childhood) and an age-appropriate heart-healthy diet. For infants and toddlers, age-appropriate shorter limits on fasting periods would be required. No dietary fat restriction or specific supplements are recommended in SCADD [Bennett 2010, van Maldegem et al 2010a].
### Surveillance
Longitudinal follow up of persons with SCADD on a research basis, including annual visits to a metabolic clinic to assess growth and development as well as nutritional status (protein and iron stores, concentration of RBC or plasma essential fatty acids, and plasma carnitine concentration), may be helpful in order to more clearly define the natural history over the life span.
### Evaluation of Relatives at Risk
See Genetic Counseling for issues related to testing of at-risk relatives for genetic counseling purposes.
### Therapies Under Investigation
Search ClinicalTrials.gov in the US and EU Clinical Trials Register in Europe for information on clinical studies for a wide range of diseases and conditions.
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: Dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: Luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone-binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
*[FSH]: Follicle-stimulating hormone
*[HHAT]: hedgehog acyltransferase
*[Hh]: Hedgehog
*[ABS]: amniotic band syndrome
| Short-Chain Acyl-CoA Dehydrogenase Deficiency | c0342783 | 30,265 | gene_reviews | https://www.ncbi.nlm.nih.gov/books/NBK63582/ | 2021-01-18T20:57:08 | {"mesh": ["C537596"], "synonyms": ["SCADD", "SCAD Deficiency"]} |
Trochleitis is the swelling of structures in the eye that help control eye movement, specifically the oblique tendon and surrounding tissues. Trochleitis may be isolated (occur alone or with migraine) or develop in association with an inflammatory condition, such as lupus or arthritis. Signs and symptoms include aching and/or stabbing pain in the inner orbit of the eye (e.g., near the nose and inner eyebrow). The pain tends to worsen when looking up and down, and when gentle pressure is applied. Trochleitis usually affects a single eye, but can involve both eyes. Ultrasound imaging and noting a rapid improvement with locally injected corticosteroids aids in diagnosis. Treatment may involve oral or locally injected corticosteroids. Long-term outlook is good with symptoms resolving within weeks to months in most cases.
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: Dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: Luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone-binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
*[FSH]: Follicle-stimulating hormone
*[HHAT]: hedgehog acyltransferase
*[Hh]: Hedgehog
*[ABS]: amniotic band syndrome
| Trochleitis | None | 30,266 | gard | https://rarediseases.info.nih.gov/diseases/12113/trochleitis | 2021-01-18T17:57:16 | {"synonyms": ["trochleodynia"]} |
Immunodeficiency due to CD25 deficiency is a rare, genetic, primary immunodeficiency due to a defect in adaptive immunity disorder characterized by severe immunodeficiency, presenting with profound susceptibility to viral, fungal and bacterial infections due to impaired CD25-mediated T-regulatory cell function, in association with severe autoimmune disease, such as alopecia universalis, erythrodermia, and autoimmune thyroiditis and enteropathy.
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: Dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: Luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone-binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
*[FSH]: Follicle-stimulating hormone
*[HHAT]: hedgehog acyltransferase
*[Hh]: Hedgehog
*[ABS]: amniotic band syndrome
| Immunodeficiency due to CD25 deficiency | c1853392 | 30,267 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=169100 | 2021-01-23T17:59:13 | {"mesh": ["C565232"], "omim": ["606367"], "icd-10": ["D81.2"], "synonyms": ["Interleukin-2 receptor alpha chain deficiency"]} |
## Summary
### Clinical characteristics.
Optic atrophy type 1 (OPA1, or Kjer type optic atrophy) is characterized by bilateral and symmetric optic nerve pallor associated with insidious decrease in visual acuity (usually between ages 4 and 6 years), visual field defects, and color vision defects. Visual impairment is usually moderate (6/10 to 2/10), but ranges from mild or even insignificant to severe (legal blindness with acuity <1/20). The visual field defect is typically centrocecal, central, or paracentral; it is often large in those with severe disease. The color vision defect is often described as acquired blue-yellow loss (tritanopia). Other findings can include auditory neuropathy resulting in sensorineural hearing loss that ranges from severe and congenital to subclinical (i.e., identified by specific audiologic testing only).
Visual evoked potentials are typically absent or delayed; pattern electroretinogram shows an abnormal N95:P50 ratio. Tritanopia is the classic feature of color vision defect, but more diffuse nonspecific dyschromatopsia is not uncommon. Ophthalmoscopic examination discloses temporal or diffuse pallor of the optic discs, sometimes associated with optic disc excavation. The neuroretinal rim shows some pallor in most cases, sometimes associated with a temporal pigmentary gray crescent.
### Diagnosis.
The diagnosis of OPA1 is made based on a combination of clinical findings, electrophysiologic studies, and family history and/or by the identification of a heterozygous pathogenic variant in OPA1, the only gene known to be associated with OPA1, by molecular genetic testing.
### Management.
Treatment of manifestations: Low-vision aids for decreased visual acuity.
Surveillance: Annual ophthalmologic evaluations (including measurement of visual acuity, visual fields, and optical coherence tomography) and hearing evaluations.
Agents/circumstances to avoid: Smoking, excessive alcohol intake, medications (antibiotics, antivirals) that interfere with mitochondrial metabolism.
### Genetic counseling.
OPA1 is inherited in an autosomal dominant manner. Most individuals diagnosed with OPA1 have an affected parent; however, de novo pathogenic variants have been reported. Each child of an individual with OPA1 has a 50% chance of inheriting the pathogenic variant. Prenatal diagnosis for pregnancies at increased risk is possible if the pathogenic variant has been identified in an affected family member, but genetic counseling remains complicated by the incomplete penetrance and the markedly variable inter- and intrafamilial expressivity of the disease.
## Diagnosis
### Suggestive Findings
Optic atrophy type 1 (OPA1 or Kjer type optic atrophy) should be suspected in individuals with the following clinical, electrophysiologic, and family history findings:
Clinical findings
* Childhood onset
* Bilateral vision loss that is usually symmetric
* Visual field defect that is typically centrocecal, central, or paracentral
* Peripheral field that is usually normal, although inversion of red and blue isopters may occur.
Note: The isopters are lines joining points of equal sensitivity on a visual field chart. The red isopter represents the largest/brightest stimulus; the blue isopter represents the smallest/dimmest stimulus. Persons with OPA1 have scotomas (areas of impaired visual acuity) in the central visual fields and sparing of the peripheral visual fields.
* Color vision defect, often described as acquired blue-yellow loss (tritanopia)
* Opthalmoscopic examination that demonstrates:
* Optic nerve pallor (the cardinal sign) that is most often bilateral and symmetric, but may be temporal (50% of individuals) and global (50%) [Votruba et al 2003];
* Profound papillary excavation (21% of eyes with OPA1) [Alward 2003];
* Neuroretinal rim pallor in most cases, sometimes associated with a temporal pigmentary gray crescent.
Electrophysiology
* Visual evoked potentials (VEPs) are typically absent or delayed, indicating a conduction defect in the optic nerve.
* Pattern electroretinogram (PERG) shows an abnormal N95:P50 ratio, with reduction in the amplitude of the N95 waveform [Holder et al 1998]. Since the N95 component of the PERG is thought to be specific for the retinal ganglion cell, this finding supports a ganglion cell origin for the optic atrophy.
Note: The PERG originates from the inner retinal layers, enabling an assessment of ganglion cell function, and is increasingly used in the assessment of anterior visual pathway dysfunction. The normal PERG consists of a prominent positive peak at 50 ms (P50), and a slow, broad trough with a minimum at 95 ms (N95). The positive P50 component is invariably affected in retinal and macular dysfunction, whereas the negative N95 component is principally affected in optic nerve disease. Furthermore, the ratio between N95 and P50 has been shown to be an effective measure of retinal ganglion cell function.
Family history consistent with autosomal dominant inheritance
Note: Absence of a family history of OPA1 does not preclude the diagnosis.
### Establishing the Diagnosis
The diagnosis of optic atrophy type 1 (OPA1) is established in a proband with the above clinical findings and/or a heterozygous pathogenic variant in OPA1 by molecular genetic testing (see Table 1).
Molecular testing approaches can include single-gene testing, use of a multigene panel, and genomic testing.
Single-gene testing
* Targeted analysis for the c.2826delT pathogenic variant can be performed first in individuals of Danish ancestry.
* In individuals who are not of Danish ancestry or if targeted analysis does not identify a pathogenic variant, sequence analysis of OPA1 is performed, followed by gene-targeted deletion/duplication analysis if no pathogenic variant is found.
* If no pathogenic variant is identified, molecular genetic testing of OPA3 for autosomal dominant optic atrophy type 3 (OPA3) and for the common mitochondrial DNA (mtDNA) single-nucleotide pathogenic variants responsible for Leber hereditary optic neuropathy (LHON) should be considered (see Differential Diagnosis).
A multigene panel that includes OPA1 and other genes of interest (see Differential Diagnosis) may also be considered. Note: (1) The genes included in the panel and the diagnostic sensitivity of the testing used for each gene vary by laboratory and are likely to change over time. (2) Some multigene panels may include genes not associated with the condition discussed in this GeneReview; thus, clinicians need to determine which multigene panel is most likely to identify the genetic cause of the condition at the most reasonable cost while limiting identification of variants of uncertain significance and pathogenic variants in genes that do not explain the underlying phenotype. (3) In some laboratories, panel options may include a custom laboratory-designed panel and/or custom phenotype-focused exome analysis that includes genes specified by the clinician. (4) Methods used in a panel may include sequence analysis, deletion/duplication analysis, and/or other non-sequencing-based tests.
For an introduction to multigene panels click here. More detailed information for clinicians ordering genetic tests can be found here.
More comprehensive genomic testing (when available) including exome sequencing, genome sequencing, and mitochondrial sequencing may be considered if serial single-gene testing (and/or use of a multigene panel) fails to confirm a diagnosis in an individual with features of optic atrophy type 1.
For an introduction to comprehensive genomic testing click here. More detailed information for clinicians ordering genomic testing can be found here.
### Table 1.
Molecular Genetic Testing Used in Optic Atrophy Type 1
View in own window
Gene 1MethodProportion of Probands with a Pathogenic Variant 2 Detectable by Method
FamilialSimplex 3
OPA1Sequence analysis 48/9 5
10/14 6
17/19 74/8 5
Gene-targeted deletion/duplication analysis 8Unknown 9Unknown
Targeted analysis for pathogenic variants 10UnknownUnknown
Unknown 11NA
1\.
See Table A. Genes and Databases for chromosome locus and protein.
2\.
See Molecular Genetics for information on allelic variants detected in this gene.
3\.
Simplex = a single occurrence in a family
4\.
Sequence analysis detects variants that are benign, likely benign, of uncertain significance, likely pathogenic, or pathogenic. Pathogenic variants may include small intragenic deletions/insertions and missense, nonsense, and splice site variants; typically, exon or whole-gene deletions/duplications are not detected. For issues to consider in interpretation of sequence analysis results, click here.
5\.
Nakamura et al [2006] found heterozygous OPA1 pathogenic variants in 8/9 familial cases and 4/8 simplex cases. Of note, on examination of family members of two apparently simplex cases, Nakamura et al [2006] found heterozygous OPA1 pathogenic variants in relatives with a normal or only mildly abnormal phenotype, supporting the notions of variable expressivity and reduced penetrance.
6\.
Puomila et al [2005]
7\.
Delettre et al [2001]
8\.
Gene-targeted deletion/duplication analysis detects intragenic deletions or duplications. Methods used may include quantitative PCR, long-range PCR, multiplex ligation-dependent probe amplification (MLPA), and a gene-targeted microarray designed to detect single-exon deletions or duplications.
9\.
A ~325-bp intronic insertion resulting in exon skipping has been reported [Gallus et al 2010]. See Molecular Genetics.
10\.
Detects the Danish founder pathogenic c.2826delT variant. Note: Pathogenic variants included in a panel may vary by laboratory.
11\.
Because the detection rate for pathogenic variants in OPA1 is less than 100%, it is possible that families in which a pathogenic variant is not detected are not linked to the OPA1 locus; however, no evidence currently supports this possibility.
## Clinical Characteristics
### Clinical Description
Vision loss. OPA1 usually presents as insidious decrease in visual acuity between ages four and six years; in mild cases visual acuity may remain normal until early adult life. Visual acuity usually declines slowly with age. Although rare, rapid decline in visual acuity has been reported in adults [Kjer et al 1996].
The visual impairment is usually moderate (6/10 to 2/10), but ranges from severe (legal blindness with acuity <1/20) to mild or even insignificant, and consequently can be underestimated.
The vision loss is occasionally asymmetric.
The visual field defect is typically centrocecal, central, or paracentral; it is often large in those with severe disease. The color vision defect is often described as acquired blue-yellow loss (tritanopia).
Typical OPA1 is associated with a progressive and irreversible loss of vision. However, Cornille et al [2008] reported a man age 23 years who developed unexplained isolated, progressive, painless bilateral optic neuropathy as a result of central scotomas (visual acuity 20/200 in the right eye and 20/100 in the left eye) three months after the first signs of visual loss. Six months later he had spontaneous and durable partial recovery of visual acuity (20/30 in the right eye and 20/25 in the left eye). He was the first affected individual described with a heterozygous pathogenic variant in one of the three alternative OPA1 exons (see Genotype-Phenotype Correlations).
Extra-ophthalmogic findings. Up to 10% of persons with a heterozgyous OPA1 pathogenic variant have additional extra-ophthalmologic abnormalities, most commonly sensorineural hearing loss, ataxia, and myopathy, suggesting that pathogenic variants in OPA1 may be responsible for a continuum of phenotypes ranging from mild disorders affecting only the retinal ganglion cells to a severe and multisystemic disease.
Sensorineural hearing loss that ranges from severe and congenital to subclinical (requiring specific testing for detection) is the most frequently extra-ocular feature observed. Such hearing loss appears to be due to auditory neuropathy [Amati-Bonneau et al 2005]. Seven pathogenic variants in OPA1 have been found to be associated with optic atrophy and hearing loss (see Genotype-Phenotype Correlations). Both intra- and interfamilial variation in the presence of hearing loss with optic atrophy has been observed.
Ataxia and myopathy. Some individuals developed proximal myopathy (35%), a combination of cerebellar and sensory ataxia in adulthood (29%), and axonal sensory and/or motor neuropathy (29%). These features became manifest from the third decade of life onwards.
Muscle biopsy revealed features diagnostic of mitochondrial myopathy. In these individuals approximately 10% of all fibers were deficient in histochemical COX activity and several fibers showed evidence of subsarcolemmal accumulation of abnormal mitochondria.
Pathology
* The cardinal sign of OPA1 is optic atrophy that appears as bilateral and generally symmetric temporal pallor of the optic disc, implying the loss of central retinal ganglion cells.
* Histopathology shows a normal outer retina and loss of retinal ganglion cells, primarily in the macula and in the papillo-macular bundle of the optic nerve.
### Genotype-Phenotype Correlations
No correlation has been observed between the degree of visual impairment and the location or type of pathogenic variant [Puomila et al 2005].
Complete deletion of OPA1 results in typical dominant optic atrophy without predictable severity or other deficits [Marchbank et al 2002]. However, it appears that pathogenic in-frame deletions involve loss of visual acuity (1/10 on average) that is statistically slightly more severe than that resulting from pathogenic truncating variants or pathogenic missense substitutions (2/10 on average) [Ait Ali et al, unpublished].
Optic atrophy and hearing loss. Seven different pathogenic variants in OPA1 have been reported in individuals with both optic atrophy and hearing loss: p.Arg445His, p.Gly401Asp, p.Leu243Ter, c.983A>G, p.Ile463_Phe464dup, p.Gln437Arg, and p.Ala357LeufsTer4 [Leruez et al 2013].
* In an individual with the p.Arg445His pathogenic variant, auditory brain stem responses (ABRs) were absent and both ears had normal evoked otoacoustic emissions [Amati-Bonneau et al 2005]. Because evoked otoacoustic emissions reflect the functional state of presynaptic elements (the outer hair cells), and the ABRs reflect the integrity of the auditory pathway from the auditory nerve to the inferior colliculus, the presence of evoked otoacoustic emissions and the lack of ABRs support the diagnosis of auditory neuropathy.
* Treft et al [1984] and Meire et al [1985] reported two unrelated families with autosomal dominant optic atrophy, hearing loss, ptosis, and ophthalmoplegia. Subsequent studies revealed the p.Arg445His pathogenic variant in OPA1 in both families [Payne et al 2004].
* Li et al [2005] identified the p.Arg445His pathogenic variant in a family with optic atrophy and hearing loss, without ptosis or ocular motility abnormalities. These family members are also myopic, but it is not clear whether myopia is part of the phenotype.
* In contrast, the p.Arg445His pathogenic variant was associated with optic atrophy without hearing loss in a Japanese individual age 21 years; no other family member was clinically affected or had the OPA1 pathogenic variant [Shimizu et al 2003].
Alternate OPA1 transcripts. Cornille et al [2008] reported a young man with unexplained isolated, progressive, painless bilateral optic neuropathy as a result of central scotomas (see Clinical Description, Visual loss) who harbored a heterozygous pathogenic variant in exon 5b (c.740G>A). This was the first report of a pathogenic variant in one of the three alternative OPA1 exons, leading to an amino acid change in the N-terminal coiled coil domain (p.Arg247His) from isoform 8. This individual had spontaneous and durable partial recovery of visual acuity (20/30 in the right eye and 20/25 in the left eye) six months later.
### Penetrance
The estimated penetrance of 98% in OPA1 has been revised in the light of molecular genetic studies. Penetrance varies from family to family and pathogenic variant to pathogenic variant. It has been reported as high as 100% (variant c.1065+1G>T, resulting in exon 12 skipping) [Thiselton et al 2002] and as low as 43% (variant c.2708_2711delTTAG in exon 27) [Toomes et al 2001]. In these two studies the clinical diagnosis was made on the basis of reduced visual acuity, abnormal color discrimination, fundus examination showing temporal pallor of the optic disc, and electrophysiology studies [Toomes et al 2001, Thiselton et al 2002].
### Nomenclature
Optic atrophy type 1 was formerly known as Kjer type optic atrophy.
### Prevalence
OPA1 is believed to be the most common of the hereditary optic neuropathies.
The estimated prevalence of OPA1 is 1:50,000 in most populations, or as high as 1:10,000 in Denmark. The relatively high frequency of OPA1 in Denmark may be attributable to a founder effect [Thiselton et al 2002].
## Differential Diagnosis
OPA3. OPA3 consists of three exons and encodes for an inner mitochondrial membrane protein. The function of this protein is not well known. Two disorders are associated with pathogenic variants in OPA3:
* Costeff optic atrophy syndrome (3-methylglutaconic aciduria type 3). Pathogenic truncating variants are responsible for this neuroophthalmologic syndrome consisting of early-onset bilateral optic atrophy and later-onset spasticity, extrapyramidal dysfunction, and cognitive deficit. Urinary excretion of 3-methylglutaconic acid and of 3-methglutaric acid is increased. Inheritance is autosomal recessive.
* Autosomal optic atrophy and cataract (ADOAC, OPA3) (OMIM 165300). Reynier et al [2004] have identified two pathogenic variants in OPA3 (p.Gly93Ser and p.Gln105Glu) that change one of the amino acids. Inheritance is autosomal dominant.
Leber hereditary optic neuropathy (LHON) is the major differential diagnosis for optic atrophy type 1 (OPA1). LHON typically presents in young adults as painless subacute bilateral visual failure. Males are more commonly affected than females. Women tend to develop the disorder slightly later in life and may be more severely affected. The acute phase begins with blurring of central vision and color desaturation that affect both eyes simultaneously in up to 25% of cases. After the initial symptoms, both eyes are usually affected within six months. The central visual acuity deteriorates to the level of counting fingers in the majority of cases. After the acute phase, the optic discs become atrophic. Significant improvements in visual acuity are rare. Individuals then proceed into the atrophic phase and are usually legally blind for the rest of their lives with a permanent large centrocecal scotoma. Neurologic abnormalities such as postural tremor, peripheral neuropathy, nonspecific myopathy, and movement disorders have been reported to be more common in individuals with LHON than in controls. Some individuals with LHON, usually women, also have a multiple sclerosis (MS)-like illness.
LHON is transmitted by maternal inheritance. In one large study, 90% of individuals with LHON were found to have one of three pathogenic variants in mtDNA: m.11778G>A, m.14484T>C, m.3460G>A.
Autosomal dominant optic atrophy (ADOA). Two other loci associated with autosomal dominant optic atrophy have been identified:
* OPA4 (OMIM 605293) was mapped to 8q12.2-q12.3 in a single large family by Kerrison et al [1999]; however, the locus has not been confirmed and the gene in which mutation is causative is unknown.
* OPA5 (OMIM 610708) was mapped to 22q12.1-q13.1 by Barbet et al [2005] in two unrelated families.
The phenotype of the three families with OPA4 or OPA5 is comparable to the phenotype seen in OPA1: optic nerve pallor, decreased visual acuity, color vision defects, impaired VEP, and normal ERG. No extraocular findings were described in these families.
Another OPA locus for autosomal dominant optic atrophy (OPA8) was mapped to 16q21-q22 in one Italian family with extraophthalmologic features extending to the auditory system [Carelli et al 2007]. The gene in which mutation is causative is unknown.
Deafness-dystonia-optic neuronopathy syndrome (DDON). Males with DDON have prelingual or postlingual sensorineural hearing impairment in early childhood, slowly progressive dystonia or ataxia in the teens, slowly progressive decreased visual acuity from optic atrophy beginning about age 20 years, and dementia beginning at about age 40 years. Psychiatric symptoms such as personality change and paranoia may appear in childhood and progress. The hearing impairment phenotype is a progressive auditory neuropathy, while the neurologic, visual, and neuropsychiatric signs vary in degree of severity and rate of progression. Females may have mild hearing impairment and focal dystonia.
Inheritance is X-linked. The DDON syndrome occurs as either a single-gene disorder resulting from pathogenic variants in TIMM8A or a contiguous gene deletion syndrome at Xq22, which also includes X-linked agammaglobulinemia caused by disruption of BTK, located telomeric to TIMM8A.
WFS1. Biallelic pathogenic variants in WFS1 are generally associated with optic atrophy (OPA) as part of the autosomal recessive Wolfram syndrome phenotype (DIDMOAD [diabetes insipidus, diabetes mellitus, optic atrophy, deafness]). Heterozygous pathogenic variants in WFS1 cause autosomal dominant progressive low-frequency sensorineural hearing loss (LFSNHL) without ophthalmologic abnormalities [Cryns et al 2003]. However, Eiberg et al [2006] identified a WFS1 heterozygous pathogenic variant associated with autosomal dominant optic atrophy, hearing loss, and impaired glucose regulation in one family, supporting the notion that heterozygous pathogenic variants in WFS1 as well as in OPA1 may lead to optic atrophy combined with hearing impairment (see WFS1-Related Disorders).
MFN2. Charcot-Marie-Tooth (CMT) neuropathy type 2A with visual impairment resulting from optic atrophy has been designated as hereditary motor and sensory neuropathy type VI (HMSN VI) [Voo et al 2003]. Züchner et al [2006] described six families with HMSN VI with a subacute onset of optic atrophy and subsequent slow recovery of visual acuity in 60% of affected individuals. In each pedigree a unique heterozygous pathogenic variant in MFN2, encoding mitofusin 2, was identified. Inheritance is autosomal dominant.
Other optic neuropathies. The acquired blue-yellow loss (tritanopia) helps differentiate OPA1 from other optic neuropathies in which the axis of confusion is red-green:
* OPA2 (OMIM 311050). A gene for X-linked optic atrophy (OPA2) has been mapped to chromosome Xp11.4-p11.21; to date no gene has been identified.
* OPA6 (OMIM 258500). The first locus for isolated autosomal recessive optic atrophy (ROA1) has been mapped to chromosome 8q. Dyschromatopsia for red-green confusion occurs in OPA6.
* OPA7 (OMIM 612989). Hanein et al [2009] identified an autosomal recessive juvenile-onset optic atrophy in a large multiplex consanguineous Algerian family and subsequently in three other Maghreb families. This form of optic atrophy is caused by biallelic pathogenic variants in TMEM126A, which encodes a mitochondrial protein found in higher eukaryotes that has four transmembrane domains and a central domain conserved with the related protein encoded by TMEM126B.
Acquired optic neuropathy can be caused by the following:
* Nutritional deficiencies of protein, or of the B vitamins and folate, associated with starvation, malabsorption, or alcoholism
* Toxic exposures. The most common is "tobacco-alcohol amblyopia," thought to be caused by exposure to cyanide from tobacco smoking, and by low levels of vitamin B12 caused by poor nutrition and poor absorption associated with drinking alcohol. Other possible toxins include ethambutol, methyl alcohol, ethylene glycol, cyanide, lead, and carbon monoxide.
* Certain medications
See Optic atrophy: OMIM Phenotypic Series to view genes associated with this phenotype in OMIM.
## Management
### Evaluations Following Initial Diagnosis
To establish the extent of disease and needs in an individual with optic atrophy type 1 (OPA1), the following evaluations are recommended:
* Assessment of visual acuity, color vision, and visual fields
* Assessment of extraocular muscles (the affected individual is asked to follow the ophthalmoscope with his/her eyes without moving the head)
* Hearing evaluation: auditory brain stem responses (ABRs), auditory evoked potentials (AEPs), and evoked otoacoustic emissions
* Oral glucose tolerance test
* Consultation with a clinical geneticist and/or genetic counselor
### Treatment of Manifestations
No treatment for OPA1 is of proven efficacy.
Treatment of decreased visual acuity is symptomatic (e.g., low-vision aids).
For treatment of sensorineural hearing loss, see Hereditary Hearing Loss and Deafness Overview.
For treatment of ataxia, see Ataxia Overview.
### Surveillance
Appropriate surveillance includes:
* Annual ophthalmologic examination, including measurement of visual acuity and visual fields and optical coherence tomography (OCT);
* Annual hearing evaluation.
### Agents/Circumstances to Avoid
Individuals with an OPA1 pathogenic variant are advised:
* Not to smoke;
* To moderate their alcohol intake;
* To use sunglasses to limit UV exposure;
Note: While limiting UV exposure is a good practice, no evidence for its effectiveness exists.
* To avoid medications (antibiotics, antivirals) that interfere with mitochondrial metabolism.
### Evaluation of Relatives at Risk
See Genetic Counseling for issues related to testing of at-risk relatives for genetic counseling purposes.
### Therapies Under Investigation
A study using the antioxidant EPI-743 in individuals with autosomal dominant optic atrophy (ADOA), including persons with OPA1, is in preparation in Italy (Dr. Valerio Carelli, University of Bologna).
Search ClinicalTrials.gov in the US and EU Clinical Trials Register in Europe for access to information on clinical studies for a wide range of diseases and conditions. Note: There may not be clinical trials for this disorder.
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: Dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: Luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone-binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
*[FSH]: Follicle-stimulating hormone
*[HHAT]: hedgehog acyltransferase
*[Hh]: Hedgehog
*[ABS]: amniotic band syndrome
| Optic Atrophy Type 1 | c0338508 | 30,268 | gene_reviews | https://www.ncbi.nlm.nih.gov/books/NBK1248/ | 2021-01-18T21:06:33 | {"mesh": ["D029241"], "synonyms": []} |
A number sign (#) is used with this entry because this form of limb-girdle muscular dystrophy-dystroglycanopathy (type C7; MDDGC7), also known as LGMDR20 and LGMD2U, is caused by homozygous mutation in the ISPD gene (614631) on chromosome 7p21. ISPD encodes an isoprenoid synthase domain-containing protein.
Mutation in the ISPD gene can also cause a severe congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies (type A7; MDDGA7; 614643).
For a discussion of genetic heterogeneity of muscular dystrophy-dystroglycanopathy type C, see MDDGC1 (609308).
Clinical Features
Tasca et al. (2013) reported 2 unrelated consanguineous families in which 2 sibs in each family had childhood onset of proximal muscle weakness affecting the lower limbs more than the upper limbs. The patients were adults at the time of the report. In their first decade of life, 2 affected sisters in 1 family developed quadriceps muscle pain and myoglobinuria after prolonged efforts, followed by lower limb muscle weakness. As adults, all 4 patients had scapular winging, some with muscle atrophy, weakness in the upper and lower limb girdles, tongue and calf hypertrophy, and reduced forced respiratory vital capacity. Three of the patients lost ambulation between ages 33 and 45 years. Serum creatine kinase was significantly increased (5-7 times normal values), and muscle biopsies showed dystrophic changes with hypoglycosylated alpha-dystroglycan (DAG1; 128239) on immunohistochemistry. None of the patients had cognitive or ocular abnormalities. Brain imaging of 2 sibs showed discrete gliotic lesions compatible with mild hypoxic-ischemic encephalopathy, but there were no brain malformations.
Inheritance
The transmission pattern of MDDGC7 in the families reported by Tasca et al. (2013) was consistent with autosomal recessive inheritance.
Molecular Genetics
In 4 patients from 2 unrelated consanguineous families with MDDGC7, Tasca et al. (2013) identified 2 different homozygous mutations in the ISPD gene (614631.0014 and 614631.0015). Functional studies of the variants were not performed.
INHERITANCE \- Autosomal recessive RESPIRATORY \- Decreased forced vital capacity CHEST Ribs Sternum Clavicles & Scapulae \- Scapular winging MUSCLE, SOFT TISSUES \- Limb-girdle muscular dystrophy \- Muscle weakness, proximal, upper and lower limbs affected \- Atrophy of upper girdle muscles \- Calf hypertrophy \- Dystrophic changes seen on muscle biopsy \- Hypoglycosylation of alpha-dystroglycan LABORATORY ABNORMALITIES \- Increased serum creatine kinase \- Myoglobinuria after exertion (in some patients) MISCELLANEOUS \- Onset in childhood \- Slowly progressive \- Lower limbs more severely affected \- Loss of independent ambulation due to muscle weakness in adulthood \- Two unrelated families have been reported (last curated October 2014) MOLECULAR BASIS \- Caused by mutation in the isoprenoid synthase domain-containing protein gene (ISPD, 614641.0014 ) ▲ Close
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: Dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: Luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone-binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
*[FSH]: Follicle-stimulating hormone
*[HHAT]: hedgehog acyltransferase
*[Hh]: Hedgehog
*[ABS]: amniotic band syndrome
| MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 7 | c4015095 | 30,269 | omim | https://www.omim.org/entry/616052 | 2019-09-22T15:50:02 | {"doid": ["0110295"], "omim": ["616052"], "orphanet": ["352479"], "synonyms": ["LGMD2U", "Alternative titles", "MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 20", "MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2U", "Autosomal recessive limb-girdle muscular dystrophy due to ISPD deficiency"]} |
Necrotising hepatopancreatitis (NHP), is also known as Texas necrotizing hepatopancreatitis (TNHP), Texas Pond Mortality Syndrome (TPMS) and Peru necrotizing hepatopancreatitis (PNHP),[1] is a lethal epizootic disease of farmed shrimp. It is not very well researched yet, but generally assumed to be caused by a bacterial infection.
NHP mainly affects the farmed shrimp species Litopenaeus vannamei (Pacific white shrimp) and Litopenaeus stylirostris (Western blue shrimp), but has also been reported in three other American species, namely Farfantepenaeus aztecus, Farfantepenaeus californiensis, and Litopenaeus setiferus.[2] The highest mortality rates occur in L. vannamei, which is one of the two most frequently farmed species of shrimp. Untreated, the disease causes mortality rates of up to 90 percent within 30 days. A first outbreak of NHP had been reported in Texas in 1985; the disease then spread to shrimp aquacultures in South America.[2]
NHP is associated with a small, gram-negative, and highly pleomorphic Rickettsia-like bacterium that belongs to its own, new genus in the class Alphaproteobacteria.[1]
The aetiological agent is the pathogenic agent Candidatus Hepatobacter penaei, an obligate intracellular bacterium of the Order α-Proteobacteria.[3]
Infected shrimps show gross signs including soft shells and flaccid bodies, black or darkened gills, dark edges of the pleopods, and uropods, and an atrophied hepatopancreas that is whitish instead of orange or tan as is usual.[4]
The pathogen that causes NHP seems to prefer high water temperatures (above 29 °C or 84 °F) and elevated levels of salinity (more than 20–38 ppt). Avoiding such conditions in shrimp ponds is thus an important disease control measure.[5]
## References[edit]
1. ^ a b Melba G. Bondad-Reantaso; S. E. McGladdery; I. East; R. P. Subasinghe, eds. (2001). "Asia Diagnostic Guide to Aquatic Animal Diseases" (PDF). FAO Fisheries Technical Paper 402/2, NACA/FAO 2001. p. 207, "Chapter 4". ISBN 92-5-104620-4.
2. ^ a b Melba G. Bondad-Reantaso; S. E. McGladdery; I. East; R. P. Subasinghe (eds.). "Chapter 4". Asia Diagnostic Guide to Aquatic Animal Diseases (PDF). FAO Fisheries Technical Paper 402/2, NACA/FAO 2001. ISBN 92-5-104620-4.
3. ^ "Access online: Manual of Diagnostic Tests for Aquatic Animals - OIE - World Organisation for Animal Health". www.oie.int. Retrieved 2017-09-07.
4. ^ S. M. Bower (1996). "Synopsis of Infectious Diseases and Parasites of Commercially Exploited Shellfish: Necrotizing Hepatopancreatitis of Penaeid Shrimp".
5. ^ Donald V. Lightner, ed. (1996). A Handbook of Shrimp Pathology and Diagnostic Procedures for Disease of Cultured Penaeid Shrimp. Baton Rouge: World Aquaculture Society. ISBN 0-9624529-9-8.
* v
* t
* e
Diseases of crustaceans
* Bitter crab disease
* Crayfish plague
* Gaffkaemia
* Infectious hypodermal and haematopoietic necrosis
* Necrotising hepatopancreatitis
* Paragonimiasis
* Taura syndrome
* White spot syndrome
* Yellowhead disease
This veterinary medicine–related article is a stub. You can help Wikipedia by expanding it.
* v
* t
* e
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: Dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: Luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone-binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
*[FSH]: Follicle-stimulating hormone
*[HHAT]: hedgehog acyltransferase
*[Hh]: Hedgehog
*[ABS]: amniotic band syndrome
| Necrotising hepatopancreatitis | None | 30,270 | wikipedia | https://en.wikipedia.org/wiki/Necrotising_hepatopancreatitis | 2021-01-18T18:57:15 | {"wikidata": ["Q3144984"]} |
A number sign (#) is used with this entry because of evidence that Abruzzo-Erickson syndrome (ABERS) is caused by mutation in the TBX22 gene (300307) on chromosome Xq21. One such family has been reported.
Clinical Features
Abruzzo and Erickson (1977) reported an apparently 'new' syndrome of cleft palate, coloboma, hypospadias, deafness, short stature, and radial synostosis expressed variably in 2 brothers, their mother, and a maternal uncle. Davenport et al. (1986) and Metlay et al. (1987) cited this family as a familial instance of CHARGE syndrome (214800). Abruzzo and Erickson (1989) provided follow-up on the 2 brothers of the family who were children at the time of the first report. Like their mother and maternal uncle, neither had choanal atresia. Both had coronal hypospadias but genital development was otherwise normal. The ears were large and protruding, and hearing impairment required a hearing aid. Wide spacing between the second and third fingers as well as unilateral or bilateral radioulnar synostosis was noted in several members of the family. Mental retardation was not present. The manifestations in the mother, who according to the proposed inheritance as an X-linked disorder would be heterozygous, consisted of large ears and flat malar configuration like her sons and brother and wide spacing between the second and third digits as well as unusual rugosity of the palate. The brothers were below the 5th percentile for height at age 19 and 16, respectively.
Molecular Genetics
In the family with an X-linked CHARGE-like syndrome that was originally reported by Abruzzo and Erickson (1977), Pauws et al. (2013) analyzed the candidate gene TBX22 and identified an intronic sequence variant (300307.0011) that segregated with the disease and was not found in the dbSNP database or in 539 control chromosomes. Mutations in TBX22 were also identified in patients with classic X-linked cleft palate phenotypes (CPX; 303400).
HEENT \- Cleft palate \- Coloboma \- Large ears \- Protruding ears \- Deafness \- Flat malar configuration \- Palatal rugosity GU \- Hypospadias Growth \- Short stature Limbs \- Radioulnar synostosis \- Wide-spaced second and third fingers Inheritance \- X-linked ▲ Close
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: Dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: Luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone-binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
*[FSH]: Follicle-stimulating hormone
*[HHAT]: hedgehog acyltransferase
*[Hh]: Hedgehog
*[ABS]: amniotic band syndrome
| ABRUZZO-ERICKSON SYNDROME | c1844862 | 30,271 | omim | https://www.omim.org/entry/302905 | 2019-09-22T16:18:41 | {"mesh": ["C535559"], "omim": ["302905"], "orphanet": ["921"], "synonyms": ["Alternative titles", "CHARGE-LIKE SYNDROME, X-LINKED"]} |
A number sign (#) is used with this entry because it represents a contiguous gene syndrome caused by deletion of chromosome 17p13.1
Clinical Features
Krepischi-Santos et al. (2009) reported a girl from the United Kingdom and 3 Brazilian boys, who were each found to have a microdeletion within or spanning chromosome 17p13.1. All presented with severe to profound mental retardation, absent or very poor speech, small head, and poor growth. Other features were variable among the patients, which the authors noted might be partially explained by different genes involved in their specific deletions.
Schwarzbraun et al. (2009) studied a 7-year-old girl with mental retardation, who spoke only a few words and had an ataxic gait. Evaluation at 5 months of age had revealed psychomotor retardation with generalized muscle hypotonia. Dysmorphic features included a broad and low-set nasal bridge, short philtrum, and bifid uvula; the child could not establish visual contact. Brain MRI revealed an enlarged fourth ventricle and hypoplasia of the cerebellar vermis and corpus callosum, consistent with incomplete Dandy-Walker malformation (see 220200) or Dandy-Walker variant. Short episodes of myoclonic seizures occurred within the first year of life.
Schluth-Bolard et al. (2010) reported a 10-year-old boy who had mild global developmental delay and facial dysmorphism, including frontal bossing, hypertelorism, flat nasal root, midface hypoplasia, small nose, short philtrum, thin upper lip, up-turned corners of the mouth, small chin, and low-set ears. Physical examination also showed finger joint hyperlaxity, pes planus, astigmatism, hypermetropia, and conductive hearing loss secondary to chronic otitis media. Skin examination showed achromic patches following the lines of Blaschko on the right upper quarter of the thorax, the right arm, and forearm suggesting a diagnosis of hypomelanosis of Ito (300337). Brain MRI, cardiac echocardiography, abdominal ultrasound, auditory brainstem evoked responses, and funduscopy were normal.
Shlien et al. (2010) studied 4 patients in whom array CGH or MLPA had identified microdeletions at chromosome 17p13.1, encompassing the TP53 locus. All 4 patients had a noncancer phenotype comprising a spectrum of congenital anomalies, including pervasive developmental delay and mental retardation, speech difficulties, hypotonia, facial dysmorphisms, and hand and foot abnormalities. Facial dysmorphisms included high forehead, highly arched eyebrows, downslanting palpebral fissures, epicanthal folds, prominent nasal bridge, upturned nasal tip, thin lips, downturned corners of mouth, high-arched palate, and a small and recessed chin. Patients were hypotonic and displayed ligamentous laxity, with contractures at the elbows and knees; deep tendon reflexes were brisk and ankle clonus was present. Hands and feet were short, and proximally placed thumbs and/or broad great toes were present in some patients.
Molecular Genetics
In 4 patients with syndromic mental retardation, Krepischi-Santos et al. (2009) identified microdeletions of chromosome 17p13.3-p13.1, ranging in size from 287 kb to 4.4 Mb, each with unique breakpoints. An overlapping segment of approximately 180 kb of chromosome 17p13.1 encompassed 18 genes, including TP53 (191170) and several other tumor suppressor genes. No tumors had been reported yet in any of the 4 patients, but Krepischi-Santos et al. (2009) noted that this was not unexpected given their relatively young ages, ranging from 5 years to 18.5 years, and suggested that long-term oncologic surveillance would be warranted in these patients.
By array CGH analysis followed by sequencing analysis in a 7-year-old girl with mental retardation, facial dysmorphism, impaired vision, seizures, and Dandy-Walker variant, Schwarzbraun et al. (2009) identified a 774-kb de novo deletion in chromosome 17p13.1 that encompassed 47 genes. The authors noted that several of the deleted genes could presumably be related to some of the patient's phenotypic features: loss of the KCNAB3 potassium channel gene (604111), for example, would be likely to be involved in the occurrence of the patient's seizures. In addition, the GUCY2D gene (600179), mutation in which can cause cone-rod dystrophy-6 (CORD6; 601777), was disrupted from the cis-regulatory elements by the breakpoint; ophthalmoscopic examination confirmed the presence of CORD in the patient, a diagnosis that explained the patient's severely impaired vision. Although the TP53 gene was within the deleted region in this patient, she did not fulfill the criteria for Li-Fraumeni (151623) or Li-Fraumeni-like syndrome, as she had no tumor and a negative family history.
In a 10-year-old boy with developmental delay, facial dysmorphism, and joint laxity, Schluth-Bolard et al. (2010) performed array CGH and identified a de novo 400-kb microdeletion on chromosome 17p13.1 involving TP53 and 25 other genes. The authors reviewed 7 previously reported patients with 17p13.1 microdeletions, including those of Krepischi-Santos et al. (2009) and Schwarzbraun et al. (2009), and stated that although all had mental retardation of variable degrees, their dysmorphic features were not specific and no recognizable syndrome emerged from comparison of the patients. Schluth-Bolard et al. (2010) noted that all the deletions were of different sizes and did not share common breakpoints, thus making it unlikely that a nonallelic homologous recombination (NAHR) mechanism generated these deletions.
Shlien et al. (2010) screened 4,524 patients with diverse clinical phenotypes for DNA dosage changes via array CGH or MLPA and identified 8 probands with a microdeletion of chromosome 17p13.1, encompassing the TP53 locus. In 4 of the patients, deletions were limited to the TP53 gene, and all 4 had childhood cancer and pedigrees consistent with the Li-Fraumeni syndrome but no neurocognitive symptoms. The remaining 4 patients, who had a noncancer phenotype comprising developmental delay, hypotonia, facial dysmorphisms, and hand and foot anomalies, had microdeletions of varying sizes at chromosome 17p13.1, encompassing the entire TP53 gene and 26 to 85 other fully deleted genes. Shlien et al. (2010) analyzed the expression of 24 genes within a common deleted region and found that the most significantly changed gene at 17p13.1, TRAPPC1 (610969), was also the most significantly changed gene genomewide, with more than 2-fold lower expression in patients compared to controls. Shlien et al. (2010) highlighted 3 other deleted genes in this region: MPDU1 (604041), mutations in which cause the congenital disorder of glycosylation CDG1F (609180), involving severe mental and psychomotor retardation; FXR2 (605339), a homolog of the fragile X mental retardation gene, FMRP (309550); and EFNB3 (602297), known to be important in the development of normal locomotor behavior. To determine whether the deletions unmasked a recessive mutation, Shlien et al. (2010) sequenced these 4 genes, but did not find additional mutations. In addition, Shlien et al. (2010) compared mRNA expression patterns in the 4 patients with a noncancer neurocognitive phenotype to those of the 4 patients with childhood cancer who had microdeletions within the TP53 gene, and found that mRNA expression levels of TP53 and TP53-dependent genes were altered in the patients with partial, but not complete, deletions, which was consistent with mutant TP53-initiated tumorigenesis in the former group but not in the latter. Analysis of the breakpoints of the 17p13.1 microdeletions demonstrated that most arose by Alu-mediated NAHR.
INHERITANCE \- Autosomal dominant GROWTH Other \- Feeding difficulties HEAD & NECK Face \- High forehead \- Small chin \- Recessed chin Ears \- Earlobe pits Eyes \- High-arched eyebrows \- Downslanting palpebral fissures \- Epicanthal folds \- Strabismus Nose \- Prominent nasal bridge \- Upturned nasal tip Mouth \- High-arched palate \- Lips thin \- Corners of mouth downturned Neck \- Short neck \- Webbed neck (in some patients) CHEST Breasts \- Inverted nipples, bilaterally ABDOMEN Gastrointestinal \- Gastrointestinal reflux SKELETAL \- Ligamentous laxity Pelvis \- Sacral crease Limbs \- Elbow contractures \- Knee contractures Hands \- Short hands \- Proximally placed thumbs Feet \- Short feet \- Broad hallux \- Long hallux MUSCLE, SOFT TISSUES \- Hypotonia \- Brisk deep tendon reflexes \- Ankle clonus NEUROLOGIC Central Nervous System \- Developmental delay, global \- Speech, limited or nonverbal \- Hydrocephalus \- Sleep disturbances Behavioral Psychiatric Manifestations \- Developmental disorder, pervasive NEOPLASIA \- No cancer despite harboring complete deletions of the TP53 gene MISCELLANEOUS \- Contiguous gene deletion syndrome \- Deletion sizes range from 287kb to 4.4Mb MOLECULAR BASIS \- A contiguous gene syndrome caused by deletion of 180kb encompassing 18 genes on chromosome 17p13.1 ▲ Close
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: Dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: Luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone-binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
*[FSH]: Follicle-stimulating hormone
*[HHAT]: hedgehog acyltransferase
*[Hh]: Hedgehog
*[ABS]: amniotic band syndrome
| CHROMOSOME 17p13.1 DELETION SYNDROME | c3151069 | 30,272 | omim | https://www.omim.org/entry/613776 | 2019-09-22T15:57:33 | {"omim": ["613776"]} |
Tuberculous cellulitis
SpecialtyDermatology
Tuberculous cellulitis is a skin condition resulting from infection with mycobacterium, and presenting as cellulitis.[1]:336
## See also[edit]
* Lupus vulgaris
* Metastatic tuberculous abscess or ulceration
* Miliary tuberculosis
* Skin lesion
## References[edit]
1. ^ James, William D.; Berger, Timothy G.; et al. (2006). Andrews' Diseases of the Skin: clinical Dermatology. Saunders Elsevier. ISBN 0-7216-2921-0.
* v
* t
* e
Gram-positive bacterial infection: Actinobacteria
Actinomycineae
Actinomycetaceae
* Actinomyces israelii
* Actinomycosis
* Cutaneous actinomycosis
* Tropheryma whipplei
* Whipple's disease
* Arcanobacterium haemolyticum
* Arcanobacterium haemolyticum infection
* Actinomyces gerencseriae
Propionibacteriaceae
* Propionibacterium acnes
Corynebacterineae
Mycobacteriaceae
M. tuberculosis/
M. bovis
* Tuberculosis: Ghon focus/Ghon's complex
* Pott disease
* brain
* Meningitis
* Rich focus
* Tuberculous lymphadenitis
* Tuberculous cervical lymphadenitis
* cutaneous
* Scrofuloderma
* Erythema induratum
* Lupus vulgaris
* Prosector's wart
* Tuberculosis cutis orificialis
* Tuberculous cellulitis
* Tuberculous gumma
* Lichen scrofulosorum
* Tuberculid
* Papulonecrotic tuberculid
* Primary inoculation tuberculosis
* Miliary
* Tuberculous pericarditis
* Urogenital tuberculosis
* Multi-drug-resistant tuberculosis
* Extensively drug-resistant tuberculosis
M. leprae
* Leprosy: Tuberculoid leprosy
* Borderline tuberculoid leprosy
* Borderline leprosy
* Borderline lepromatous leprosy
* Lepromatous leprosy
* Histoid leprosy
Nontuberculous
R1:
* M. kansasii
* M. marinum
* Aquarium granuloma
R2:
* M. gordonae
R3:
* M. avium complex/Mycobacterium avium/Mycobacterium intracellulare/MAP
* MAI infection
* M. ulcerans
* Buruli ulcer
* M. haemophilum
R4/RG:
* M. fortuitum
* M. chelonae
* M. abscessus
Nocardiaceae
* Nocardia asteroides/Nocardia brasiliensis/Nocardia farcinica
* Nocardiosis
* Rhodococcus equi
Corynebacteriaceae
* Corynebacterium diphtheriae
* Diphtheria
* Corynebacterium minutissimum
* Erythrasma
* Corynebacterium jeikeium
* Group JK corynebacterium sepsis
Bifidobacteriaceae
* Gardnerella vaginalis
* v
* t
* e
Dermatitis and eczema
Atopic dermatitis
* Besnier's prurigo
Seborrheic dermatitis
* Pityriasis simplex capillitii
* Cradle cap
Contact dermatitis
(allergic, irritant)
* plants: Urushiol-induced contact dermatitis
* African blackwood dermatitis
* Tulip fingers
* other: Abietic acid dermatitis
* Diaper rash
* Airbag dermatitis
* Baboon syndrome
* Contact stomatitis
* Protein contact dermatitis
Eczema
* Autoimmune estrogen dermatitis
* Autoimmune progesterone dermatitis
* Breast eczema
* Ear eczema
* Eyelid dermatitis
* Topical steroid addiction
* Hand eczema
* Chronic vesiculobullous hand eczema
* Hyperkeratotic hand dermatitis
* Autosensitization dermatitis/Id reaction
* Candidid
* Dermatophytid
* Molluscum dermatitis
* Circumostomy eczema
* Dyshidrosis
* Juvenile plantar dermatosis
* Nummular eczema
* Nutritional deficiency eczema
* Sulzberger–Garbe syndrome
* Xerotic eczema
Pruritus/Itch/
Prurigo
* Lichen simplex chronicus/Prurigo nodularis
* by location: Pruritus ani
* Pruritus scroti
* Pruritus vulvae
* Scalp pruritus
* Drug-induced pruritus
* Hydroxyethyl starch-induced pruritus
* Senile pruritus
* Aquagenic pruritus
* Aquadynia
* Adult blaschkitis
* due to liver disease
* Biliary pruritus
* Cholestatic pruritus
* Prion pruritus
* Prurigo pigmentosa
* Prurigo simplex
* Puncta pruritica
* Uremic pruritus
Other
* substances taken internally: Bromoderma
* Fixed drug reaction
* Nummular dermatitis
* Pityriasis alba
* Papuloerythroderma of Ofuji
This infection-related cutaneous condition article is a stub. You can help Wikipedia by expanding it.
* v
* t
* e
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: Dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: Luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone-binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
*[FSH]: Follicle-stimulating hormone
*[HHAT]: hedgehog acyltransferase
*[Hh]: Hedgehog
*[ABS]: amniotic band syndrome
| Tuberculous cellulitis | None | 30,273 | wikipedia | https://en.wikipedia.org/wiki/Tuberculous_cellulitis | 2021-01-18T19:03:26 | {"wikidata": ["Q7850851"]} |
A rare, inherited disorder characterized by widespread calcifications of basal ganglia and cortex, developmental delay, small stature, retinopathy and microcephaly. The absence of progressive deterioration of the neurological functions is characteristic of the disease.
## Epidemiology
The syndrome has been described in eight children from two interrelated families.
## Etiology
Brain calcification, Rajab type is associated with a genetic locus on chromosome 2.
## Genetic counseling
Transmission is autosomal recessive.
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: Dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: Luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone-binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
*[FSH]: Follicle-stimulating hormone
*[HHAT]: hedgehog acyltransferase
*[Hh]: Hedgehog
*[ABS]: amniotic band syndrome
| Brain calcification, Rajab type | c3150910 | 30,274 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=178506 | 2021-01-23T18:37:25 | {"omim": ["613658"]} |
Osteoma
Osteoma of external auditory meatus
SpecialtyOncology
An osteoma (plural: "osteomata") is a new piece of bone usually growing on another piece of bone, typically the skull. It is a benign tumor.
When the bone tumor grows on other bone it is known as "homoplastic osteoma"; when it grows on other tissue it is called "heteroplastic osteoma".
Osteoma represents the most common benign neoplasm of the nose and paranasal sinuses. The cause of osteomata is uncertain, but commonly accepted theories propose embryologic, traumatic, or infectious causes. Osteomata are also found in Gardner's syndrome. Larger craniofacial osteomata may cause facial pain, headache, and infection due to obstructed nasofrontal ducts. Often, craniofacial osteoma presents itself through ocular signs and symptoms (such as proptosis).[1]
## Contents
* 1 Variants
* 2 See also
* 3 References
* 4 External links
## Variants[edit]
* "Osteoma cutis, but there is currently no way of detecting if and when this is likely to occur.
* "Fibro-osteoma"
* "Chondro-osteoma"
* Osteoma of the frontal sinus seen on x-ray
* Osteoma of the frontal sinus on CT
* Osteoma
## See also[edit]
* Osteosclerosis
* Familial adenomatous polyposis
* Exostosis
* Gardner syndrome
* Ganglion cyst
## References[edit]
1. ^ Michael S. Schwartz, MD; Dennis M. Crockett, MD. "Management of a Large Frontoethmoid Osteoma with Sinus Cranialization and Cranial Bone Graft Reconstruction". International Journal of Pediatric Otorhinolaryngology.
## External links[edit]
* radio/498 at eMedicine \- Osteoid osteoma
* derm/301 at eMedicine \- Osteoma cutis
* Humapth #4724 (Pathology images)
Classification
D
* ICD-10: D16
* ICD-9-CM: 213.0
* ICD-O: 9180/0, 9191/0, 9200/0
* MeSH: D010016
* v
* t
* e
Tumours of bone and cartilage
Diaphysis
* Multiple myeloma
* Epithelia
* Adamantinoma
* Primitive neuroectodermal tumor
* Ewing family
* Ewing's sarcoma
Metaphysis
Osteoblast
* Osteoid osteoma
* Osteoblastoma
* Osteoma/osteosarcoma
Chondroblast
* Chondroma/ecchondroma/enchondroma
* Enchondromatosis
* Extraskeletal chondroma
* Chondrosarcoma
* Mesenchymal chondrosarcoma
* Myxoid chondrosarcoma
* Osteochondroma
* Osteochondromatosis
* Chondromyxoid fibroma
Fibrous
* Ossifying fibroma
* Fibrosarcoma
Epiphysis
Chondroblast
* Chondroblastoma
Myeloid
* Giant-cell tumor of bone
Other
Notochord
* Chordoma
* v
* t
* e
Skin cancer of nevi and melanomas
Melanoma
* Mucosal melanoma
* Superficial spreading melanoma
* Nodular melanoma
* lentigo
* Lentigo maligna/Lentigo maligna melanoma
* Acral lentiginous melanoma
* Amelanotic melanoma
* Desmoplastic melanoma
* Melanoma with features of a Spitz nevus
* Melanoma with small nevus-like cells
* Polypoid melanoma
* Nevoid melanoma
* Melanocytic tumors of uncertain malignant potential
Nevus/
melanocytic nevus
* Nevus of Ito/Nevus of Ota
* Spitz nevus
* Pigmented spindle cell nevus
* Halo nevus
* Pseudomelanoma
* Blue nevus
* of Jadassohn–Tièche
* Cellular
* Epithelioid
* Deep penetrating
* Amelanotic
* Malignant
* Congenital melanocytic nevus (Giant
* Medium-sized
* Small-sized)
* Balloon cell nevus
* Dysplastic nevus/Dysplastic nevus syndrome
* Acral nevus
* Becker's nevus
* Benign melanocytic nevus
* Nevus spilus
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: Dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: Luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone-binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
*[FSH]: Follicle-stimulating hormone
*[HHAT]: hedgehog acyltransferase
*[Hh]: Hedgehog
*[ABS]: amniotic band syndrome
| Osteoma | c0029440 | 30,275 | wikipedia | https://en.wikipedia.org/wiki/Osteoma | 2021-01-18T19:10:01 | {"mesh": ["D010016"], "umls": ["C0029440"], "icd-9": ["213.0"], "icd-10": ["C40"], "wikidata": ["Q1675957"]} |
Batten (1910) and later Turner (1949) and Turner and Lees (1962) provided 50 years' observations on a family in which 6 sibs presented in infancy the picture of 'amyotonia congenita' and later in life a nonprogressive myopathy. The parents were not related.
Muscle \- Congenital myopathy Neuro \- Amyotonia congenita \- Nonprogressive myopathy Inheritance \- Autosomal recessive ▲ Close
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: Dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: Luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone-binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
*[FSH]: Follicle-stimulating hormone
*[HHAT]: hedgehog acyltransferase
*[Hh]: Hedgehog
*[ABS]: amniotic band syndrome
| MYOPATHY, CONGENITAL | c0027127 | 30,276 | omim | https://www.omim.org/entry/255300 | 2019-09-22T16:24:33 | {"doid": ["0080100"], "mesh": ["D009224"], "omim": ["255300"], "icd-9": ["359.22"], "synonyms": ["Alternative titles", "BATTEN-TURNER CONGENITAL MYOPATHY"]} |
Vesicopustular dermatosis
SpecialtyDermatology
Vesicopustular dermatosis is a cutaneous condition characterized by neutrophils, and associated with bowel disorders.[1]
## See also[edit]
* Pyostomatitis vegetans
* List of cutaneous conditions
## References[edit]
1. ^ Rapini, Ronald P.; Bolognia, Jean L.; Jorizzo, Joseph L. (2007). Dermatology: 2-Volume Set. St. Louis: Mosby. p. 389. ISBN 1-4160-2999-0.
This dermatology article is a stub. You can help Wikipedia by expanding it.
* v
* t
* e
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: Dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: Luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone-binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
*[FSH]: Follicle-stimulating hormone
*[HHAT]: hedgehog acyltransferase
*[Hh]: Hedgehog
*[ABS]: amniotic band syndrome
| Vesicopustular dermatosis | None | 30,277 | wikipedia | https://en.wikipedia.org/wiki/Vesicopustular_dermatosis | 2021-01-18T18:34:52 | {"wikidata": ["Q7923219"]} |
Steatocystoma simplex
Other namesSimple sebaceous duct cyst, solitary steatocystoma
Micrograph of a steatocystoma showing the characteristic corrugated eosinophilic lining. H&E stain
SpecialtyDermatology
Relative incidence of cutaneous cysts. Steatocystoma is labeled at right.
Steatocystoma simplex is a skin condition characterized by a skin lesion that occurs with equal frequency in adult women and men, and is typically found on the face, trunk, or extremities.[1]:679 It is related to Steatocystoma multiplex.[2]
## References[edit]
1. ^ James, William D.; Berger, Timothy G.; et al. (2006). Andrews' Diseases of the Skin: Clinical Dermatology. Saunders Elsevier. ISBN 0-7216-2921-0.
2. ^ Davey, Mathew. "Steatocystoma Multiplex". Retrieved 25 May 2011.
* v
* t
* e
Disorders of skin appendages
Nail
* thickness: Onychogryphosis
* Onychauxis
* color: Beau's lines
* Yellow nail syndrome
* Leukonychia
* Azure lunula
* shape: Koilonychia
* Nail clubbing
* behavior: Onychotillomania
* Onychophagia
* other: Ingrown nail
* Anonychia
* ungrouped: Paronychia
* Acute
* Chronic
* Chevron nail
* Congenital onychodysplasia of the index fingers
* Green nails
* Half and half nails
* Hangnail
* Hapalonychia
* Hook nail
* Ingrown nail
* Lichen planus of the nails
* Longitudinal erythronychia
* Malalignment of the nail plate
* Median nail dystrophy
* Mees' lines
* Melanonychia
* Muehrcke's lines
* Nail–patella syndrome
* Onychoatrophy
* Onycholysis
* Onychomadesis
* Onychomatricoma
* Onychomycosis
* Onychophosis
* Onychoptosis defluvium
* Onychorrhexis
* Onychoschizia
* Platonychia
* Pincer nails
* Plummer's nail
* Psoriatic nails
* Pterygium inversum unguis
* Pterygium unguis
* Purpura of the nail bed
* Racquet nail
* Red lunulae
* Shell nail syndrome
* Splinter hemorrhage
* Spotted lunulae
* Staining of the nail plate
* Stippled nails
* Subungual hematoma
* Terry's nails
* Twenty-nail dystrophy
Hair
Hair loss/
Baldness
* noncicatricial alopecia: Alopecia
* areata
* totalis
* universalis
* Ophiasis
* Androgenic alopecia (male-pattern baldness)
* Hypotrichosis
* Telogen effluvium
* Traction alopecia
* Lichen planopilaris
* Trichorrhexis nodosa
* Alopecia neoplastica
* Anagen effluvium
* Alopecia mucinosa
* cicatricial alopecia: Pseudopelade of Brocq
* Central centrifugal cicatricial alopecia
* Pressure alopecia
* Traumatic alopecia
* Tumor alopecia
* Hot comb alopecia
* Perifolliculitis capitis abscedens et suffodiens
* Graham-Little syndrome
* Folliculitis decalvans
* ungrouped: Triangular alopecia
* Frontal fibrosing alopecia
* Marie Unna hereditary hypotrichosis
Hypertrichosis
* Hirsutism
* Acquired
* localised
* generalised
* patterned
* Congenital
* generalised
* localised
* X-linked
* Prepubertal
Acneiform
eruption
Acne
* Acne vulgaris
* Acne conglobata
* Acne miliaris necrotica
* Tropical acne
* Infantile acne/Neonatal acne
* Excoriated acne
* Acne fulminans
* Acne medicamentosa (e.g., steroid acne)
* Halogen acne
* Iododerma
* Bromoderma
* Chloracne
* Oil acne
* Tar acne
* Acne cosmetica
* Occupational acne
* Acne aestivalis
* Acne keloidalis nuchae
* Acne mechanica
* Acne with facial edema
* Pomade acne
* Acne necrotica
* Blackhead
* Lupus miliaris disseminatus faciei
Rosacea
* Perioral dermatitis
* Granulomatous perioral dermatitis
* Phymatous rosacea
* Rhinophyma
* Blepharophyma
* Gnathophyma
* Metophyma
* Otophyma
* Papulopustular rosacea
* Lupoid rosacea
* Erythrotelangiectatic rosacea
* Glandular rosacea
* Gram-negative rosacea
* Steroid rosacea
* Ocular rosacea
* Persistent edema of rosacea
* Rosacea conglobata
* variants
* Periorificial dermatitis
* Pyoderma faciale
Ungrouped
* Granulomatous facial dermatitis
* Idiopathic facial aseptic granuloma
* Periorbital dermatitis
* SAPHO syndrome
Follicular cysts
* "Sebaceous cyst"
* Epidermoid cyst
* Trichilemmal cyst
* Steatocystoma
* simplex
* multiplex
* Milia
Inflammation
* Folliculitis
* Folliculitis nares perforans
* Tufted folliculitis
* Pseudofolliculitis barbae
* Hidradenitis
* Hidradenitis suppurativa
* Recurrent palmoplantar hidradenitis
* Neutrophilic eccrine hidradenitis
Ungrouped
* Acrokeratosis paraneoplastica of Bazex
* Acroosteolysis
* Bubble hair deformity
* Disseminate and recurrent infundibulofolliculitis
* Erosive pustular dermatitis of the scalp
* Erythromelanosis follicularis faciei et colli
* Hair casts
* Hair follicle nevus
* Intermittent hair–follicle dystrophy
* Keratosis pilaris atropicans
* Kinking hair
* Koenen's tumor
* Lichen planopilaris
* Lichen spinulosus
* Loose anagen syndrome
* Menkes kinky hair syndrome
* Monilethrix
* Parakeratosis pustulosa
* Pili (Pili annulati
* Pili bifurcati
* Pili multigemini
* Pili pseudoannulati
* Pili torti)
* Pityriasis amiantacea
* Plica neuropathica
* Poliosis
* Rubinstein–Taybi syndrome
* Setleis syndrome
* Traumatic anserine folliculosis
* Trichomegaly
* Trichomycosis axillaris
* Trichorrhexis (Trichorrhexis invaginata
* Trichorrhexis nodosa)
* Trichostasis spinulosa
* Uncombable hair syndrome
* Wooly hair nevus
Sweat
glands
Eccrine
* Miliaria
* Colloid milium
* Miliaria crystalline
* Miliaria profunda
* Miliaria pustulosa
* Miliaria rubra
* Occlusion miliaria
* Postmiliarial hypohidrosis
* Granulosis rubra nasi
* Ross’ syndrome
* Anhidrosis
* Hyperhidrosis
* Generalized
* Gustatory
* Palmoplantar
Apocrine
* Body odor
* Chromhidrosis
* Fox–Fordyce disease
Sebaceous
* Sebaceous hyperplasia
This Epidermal nevi, neoplasms, cysts article is a stub. You can help Wikipedia by expanding it.
* v
* t
* e
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: Dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: Luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone-binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
*[FSH]: Follicle-stimulating hormone
*[HHAT]: hedgehog acyltransferase
*[Hh]: Hedgehog
*[ABS]: amniotic band syndrome
| Steatocystoma simplex | c1997005 | 30,278 | wikipedia | https://en.wikipedia.org/wiki/Steatocystoma_simplex | 2021-01-18T18:31:26 | {"wikidata": ["Q7605540"]} |
A number sign (#) is used with this entry because autosomal dominant erythrocytosis-6 (ECYT6) can be caused by heterozygous mutation in the beta globin gene (HBB; 141900) that results in a high oxygen affinity hemoglobin.
Description
Familial erythrocytosis-6 is characterized by an increased oxygen affinity of hemoglobin (Hb), which results in decreased delivery of oxygen into the peripheral tissues and compensatory polycythemia. Patients are generally asymptomatic, as compensatory polycythemia assures normal oxygen tissue delivery. Patients have normal red cell morphology (summary by Kralovics and Prchal, 2000). Wajcman and Galacteros (2005) noted that although high oxygen affinity hemoglobins are usually well tolerated in young patients, they can lead to thrombotic complications in older patients or when they are associated with another cause that increases thrombotic risk. Wajcman and Galacteros (2005) also noted that the effect of increased oxygen affinity of Hb caused by an alpha chain variant (see 617981) is usually milder than that caused by a beta chain variant.
Clinical Features
In 4 generations of a family of English ancestry, Honig et al. (1990) found 15 persons with erythrocytosis. Elevated hemoglobin levels were accompanied by leftward-shifted whole blood oxygen equilibrium curves. Phlebotomies for relief of symptoms attributable to erythrocytosis had been necessary in 5 of the affected family members. Oxygen equilibrium curves demonstrated normal Bohr effect but decreased cooperativity.
In a Portuguese family living in Coimbra, Portugal, Tamagnini et al. (1991) identified a high oxygen affinity hemoglobin variant. Two affected members had erythrocytosis with hemoglobin levels of 18 to 20 g/dl.
Inheritance
Erythrocytosis caused by high oxygen affinity Hb variants is inherited in an autosomal dominant manner (Wajcman and Galacteros, 2005).
Diagnosis
Because some high oxygen affinity hemoglobins are electrophoretically silent, the determination of hemoglobin oxygen dissociation kinetics is the best initial screening laboratory test for suspected congenital secondary polycythemia. A decreased P(50) indicates mutant hemoglobin or, even rarer, 2,3-bisphosphoglycerate deficiency (summary by Kralovics and Prchal, 2000).
Pathogenesis
The hemoglobin tetramer oscillates between the R (relaxed; fully oxygenated hemoglobin) and T (tense; fully deoxygenated hemoglobin) state of the quaternary protein conformation, requiring the cooperative interaction of globin subunits. Mutations affecting the equilibrium between R and T states result in a change of oxygen affinity. Most of these mutations occur in the alpha1/beta2 interface of the tetramer, but some interfere with the 2,3-bisphosphate binding site, and others occur at the C terminus of one of the globin subunits and interfere with binding of heme (summary by Kralovics and Prchal, 2000).
Molecular Genetics
Erythrocytosis can be a feature of several variant beta globins (Weatherall, 1969); see, e.g., hemoglobins Little Rock (141900.0159), Yakima (141900.0301), Kempsey (141900.0146), Ypsilanti (141900.0307), and Hiroshima (141900.0110).
In 6 members of a Caucasian family with erythrocytosis, Stamatoyannopoulos et al. (1968) identified a high oxygen affinity hemoglobin caused by a tyr145-to-his substitution in the HBB gene (Hb Rainier; 141900.0232).
In affected individuals in a family of English ancestry with erythrocytosis, Honig et al. (1990) identified a leu105-to-phe substitution in the HBB gene (Hb South Milwaukee; 141900.0391).
In affected members of a Portuguese family with erythrocytosis, Tamagnini et al. (1991) identified a heterozygous asp99-to-glu mutation in the HBB gene (Hb Coimbra; 141900.0405).
Gonzalez Fernandez et al. (2009) noted that 89 Hb variants that show high affinity for oxygen had been described: 18 in the alpha chain and 71 in the beta chain. Two thirds of them are not accompanied by erythrocytosis either because the affinity increase is slight or moderate and only found during in vitro studies or when molecular instability is also present, determining a concomitant hemolysis; or if the mutating gene expression is low, as occurs in the alpha chain variations, or is reduced, as in Hb Crete (141900.0058).
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: Dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: Luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone-binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
*[FSH]: Follicle-stimulating hormone
*[HHAT]: hedgehog acyltransferase
*[Hh]: Hedgehog
*[ABS]: amniotic band syndrome
| ERYTHROCYTOSIS, FAMILIAL, 6 | c4693822 | 30,279 | omim | https://www.omim.org/entry/617980 | 2019-09-22T15:44:09 | {"omim": ["617980"], "synonyms": ["Alternative titles", "ERYTHROCYTOSIS, BETA-GLOBIN TYPE", "POLYCYTHEMIA, BETA-GLOBIN TYPE"]} |
Mental suffering among settlers of the North American plains.
Great Plains of Nebraska
Prairie madness or prairie fever was an affliction that affected settlers in the Great Plains during the migration to, and settlement of, the Canadian Prairies and the Western United States in the nineteenth century. Settlers moving from urbanized or relatively settled areas in the East faced the risk of mental breakdown caused by the harsh living conditions and the extreme levels of isolation on the prairie. Symptoms of prairie madness included depression, withdrawal, changes in character and habit, and violence. Prairie madness sometimes resulted in the afflicted person moving back East or, in extreme cases, suicide.
Prairie madness is not a clinical condition; rather, it is a pervasive subject in writings of fiction and non-fiction from the period to describe a fairly common phenomenon. It was described by Eugene Virgil Smalley in 1893: "an alarming amount of insanity occurs in the new Prairie States among farmers and their wives."[1][2]
## Contents
* 1 Causes
* 2 Risk factors
* 3 Symptoms
* 4 Decline
* 5 In popular culture
* 6 See also
* 7 References
## Causes[edit]
Prairie madness was caused by the isolation and tough living conditions on the Prairie. The level of isolation depended on the topography and geography of the region. Most examples of prairie madness come from the Great Plains region. One explanation for these high levels of isolation was the Homestead Act of 1862. This act stipulated that a person would be given a tract of 160 acres if they were able to live on it and make something out of it in a five-year period. The farms of the Homestead Act were at least half a mile apart, but usually much more.[1] Although there were thriving Indigenous nations and communities, there was little settlement of Europeans on the Plains and settlers had to be almost completely self-sufficient.
The lack of quick and easily available transportation was also a cause of prairie madness; settlers were far apart from one another and they could not see their neighbors or get to town easily. (In many areas, towns were usually located along the railroads and 10-20 miles apart -- close enough for people to bring their goods to market within a day's travel, but not close enough for most people to see town on more than an infrequent basis. This particularly applied to women who were often left behind to tend to family and farm while the men went to town.) Those who had family back on the East coast could not visit their families without embarking on a long journey. Settlers were very alone. This isolation also caused problems with medical care; it took such a long time to get to the farms that when children fell sick they frequently died. This caused a lot of trauma for the parents, and contributed to prairie madness.
Another major cause of prairie madness was the harsh weather and environment of the Plains, including long, cold winters filled with blizzards followed by short, hot summers. Once winter came, it seemed that all signs of life such as plants, and animals had disappeared. Farmers would be stuck in their houses under several feet of snow when the blizzards struck, and the family would be cramped inside for days at a time.[3] There were few trees, and the flat land stretched out for miles and miles. Some settlers specifically spoke of the wind that rushed through the prairie, which was loud, forceful, and alien compared to what settlers had experienced in their former lives.[1]
Panorama of the flat Northern Colorado prairie. The landscape is desolate and dry between late summer (August) and spring (April), for around 8 months per year.
## Risk factors[edit]
Many stayed very attached to their way of life back East, and their attempts to make their new homes in the West adhere to the old ways sometimes triggered prairie madness. Others tried to adapt to the entirely new way of life, and abandoned the old ways, but still fell victim to madness. Some coping mechanisms to escape the emotional trauma of moving to the prairie was to continually move around to new locations, or to move back East.[3]
Immigrants were particularly at risk for prairie madness. Immigrant families not only had to suffer from isolation, but the settlers who lived in their area often had different languages and customs. As such, this was an even further separation from society. Immigrant families were also hard-hit by prairie madness because they came from communities in Europe that were very close-knit small villages and life on the prairie was a terrible shock for them.[1]
There is a debate between scholars as to whether the condition affected women more than men, although there is documentation of both cases in both fiction and non-fiction from the nineteenth century. Women and men each had different manifestations of the disease, women turning towards social withdrawal and men to violence.[3]
## Symptoms[edit]
Great Plains west of Kearney, Nebraska
Since prairie madness does not refer to a clinical term, there is no specific set of symptoms of the affliction. However, the descriptions of prairie madness in historical writing, personal accounts, and Western literature elucidate what some of the effects of the disease were.
The symptoms of prairie madness were similar to those of depression. The women affected by prairie madness were said to show symptoms such as crying, slovenly dress, and withdrawal from social interactions. Men also showed signs of depression, which sometimes manifested in violence. Prairie madness was not unique from other types of depression, but the harsh conditions on the prairie triggered this depression, and it was difficult to overcome without getting off of the prairie.[3]
In extreme cases, the depression would lead to mental breakdown. This could lead to suicide. There are theories that the suicides caused by prairie madness were typically committed by women, and performed in an exhibitionist fashion. Prairie madness did not typically lead to suicide, and this is depicted more in fictional stories than it is seen in the historical record.[3]
## Decline[edit]
Prairie madness virtually disappears from the historical and literary record during the 20th century. This was likely the result of new modes of communication and transportation that arose during the late 19th and early 20th century. These included the increase in railroad lines, the invention and increasing usage of both the telephone and automobile, and further settlement leading to the "closing of the frontier", as described by renowned American Western historian Frederick Jackson Turner.[1]
## In popular culture[edit]
* Thomas Mayne Reid in his novel written in the first person voice and set in northern Mexico, The Scalp Hunters: or, Romantic Adventures in Northern Mexico (1851)[4] used the expression "prairie fever" in the words of the narrator to convey the enchantment with the freedom of prairie life:
> ... with gallops by day and the wilder tales by the night watch-fires, I became intoxicated with the romance of my new life. I had caught the "prairie-fever!" So my companions told me, laughing. I did not understand them then. I knew what they meant afterwards. The prairie fever! Yes. I was just then in process of being inoculated by that strange disease. It grew upon me apace. The dreams of home began to die within me; and with these the illusory ideas of many a young and foolish ambition.[5]
* In Lonesome Dove, by Larry McMurtry, a woman kills herself after living on the prairie for most of her lifetime, leaving a suicide note with the words "Tired of the damn wind".
* Stephen Bridgewater directed in 2008 an American Western film, Prairie Fever, starring Kevin Sorbo, Lance Henriksen and Dominique Swain.
* Peter Pagnamenta published a non-fiction book, Prairie Fever: British Aristocrats in the American West, 1830-1890 in 2012.[6]
* Glendon Swathout's novel (also adapted to film), "The Homesman", showcases prairie madness.
* Michael F. Parker wrote a novel, Prairie Fever in 2019.[7][8]
* Annika Barranti Klein published a story, "Prairie Fever" in CRAFT Literary in January 2020.[9]
* James Michener covers the topic of mental health in one of the chapters about the settlement of the Colorado Plains in his opus Centennial.
* The 2018 supernatural/psychological Western thriller “The Wind” chronicals a woman getting prairie madness in the 1800s
## See also[edit]
* Agoraphobia
* Cabin fever
* Kayak angst
* Depopulation of the Great Plains
## References[edit]
1. ^ a b c d e Boorstin, D. (1973). The Americans: The Democratic Experience. New York: Random House. pp. 120–125.
2. ^ Rich, N. (12 July 2017). "American Dreams: O Pioneers! by Willa Cather". The Daily Beast. Retrieved 26 October 2019.
3. ^ a b c d e Meldrum, B. H. (1985). "Men, Women, and Madness: Pioneer Plains Literature". Under the Sun: Myth and Realism in Western American Literature. Troy: Whitson Publishing. pp. 51–61.
4. ^ Capt. Mayne Reid. The Scalp Hunters: or, Romantic Adventures in Northern Mexico. London: C. J. Skeet, 1851. 3 volumes. (First Edition)
5. ^ Mayne Reid. The Scalp Hunters, ch. III, The Prairie Fever.
6. ^ Pagnamenta, Peter. Prairie Fever: British Aristocrats in the American West, 1830-1890. New York, NY: W. W. Norton & Company, 2012. ISBN 0393072398
7. ^ Prairie Fever: New novel coming May 2019 from Algonquin Books
8. ^ Parker, Michael. Prairie Fever. Chapel Hill, NC: Algonquin Books, 2019
9. ^ Klein, Annika Barranti. Prairie Fever by Annika Barranti Klein, CRAFT Literary, 2020
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: Dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: Luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone-binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
*[FSH]: Follicle-stimulating hormone
*[HHAT]: hedgehog acyltransferase
*[Hh]: Hedgehog
*[ABS]: amniotic band syndrome
| Prairie madness | None | 30,280 | wikipedia | https://en.wikipedia.org/wiki/Prairie_madness | 2021-01-18T18:44:57 | {"wikidata": ["Q7238040"]} |
CASK-related disorders are a group of genetic disorders that affect brain development. The two main related disorders include microcephaly with pontine and cerebellar hypoplasia (MICPCH) and X-linked intellectual disability (XL-ID) with or without nystagmus. Males with these disorders usually have more severe symptoms than females. The signs and symptoms may include: autism spectrum disorders, intellectual disability, epilepsy disorders, seizures, a small head size (microcephaly) with specific brain findings (pontine and cerebellar hypoplasia), delayed growth, vision and hearing issues, and low muscle tone (hypotonia).
CASK-related disorders are caused by mutations in the CASK gene and are inherited in an X-linked manner. Some researchers have suggested that a condition called FG syndrome 4 may also be caused by mutations in the CASK gene, but it seems that the only family described with this syndrome may have actually had XL-ID, with or without nystagmus. Treatment is focused on alleviating symptoms and may include medication to control seizures, nutritional support, hearing and vision aids, and physical therapy. The best management usually requires a team of specialists.
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: Dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: Luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone-binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
*[FSH]: Follicle-stimulating hormone
*[HHAT]: hedgehog acyltransferase
*[Hh]: Hedgehog
*[ABS]: amniotic band syndrome
| CASK-Related Disorders | c2677903 | 30,281 | gard | https://rarediseases.info.nih.gov/diseases/12670/cask-related-disorders | 2021-01-18T18:01:36 | {"mesh": ["C567466"], "omim": ["300749", "300422"], "synonyms": []} |
A number sign (#) is used with this entry because of evidence that Coffin-Siris syndrome-3 (CSS3) is caused by heterozygous mutation in the SMARCB1 gene (601607) on chromosome 22q11. The SMARCB1 gene is one of several genes encoding subunits of the SWI/SNF complex, also known as the BAF complex, which functions as a chromatin remodeling factor.
Description
Coffin-Siris syndrome is a congenital malformation syndrome characterized by developmental delay, intellectual disability, coarse facial features, feeding difficulties, and hypoplastic or absent fifth fingernails and fifth distal phalanges. Other more variable features may also occur. Patients with SMARCB1 mutations may have more severe neurodevelopmental deficits including severe intellectual disability, brain structural abnormalities, and no expressive words, as well as scoliosis (summary by Kosho et al., 2014).
For a general phenotypic description and a discussion of genetic heterogeneity of Coffin-Siris syndrome, see CSS1 (135900).
Clinical Features
Tsurusaki et al. (2012) identified SMARCB1 mutations in 4 patients with Coffin-Siris syndrome. All had developmental delay and hypotonia; 2 of 3 examined had microcephaly, 2 of 3 had a small cerebellum; 2 of the 4 had seizures, and neither of 2 examined had Dandy-Walker malformation. Three of the 4 had hearing loss. All 4 had absent or hypoplastic fifth finger or toenails, sparse scalp hair, thick eyebrows, and long eyelashes. Three of 3 examined had abnormal delayed dentition, 2 of 3 had nonfunctioning or absent tear duct, and 3 of the 4 were hirsute. All 4 were described as having a coarse facial appearance with broad nose, wide mouth, thick lips, abnormal ears, and a high palate. All 4 had short stature, 3 of the 4 had spinal anomalies, and all had feeding problems. Absent hypoplastic fifth phalanx of the hand and the foot and delayed bone age were found in 1 patient examined for these. Other phenotypic features were more variable. Two patients for whom pictures were presented, while dysmorphic, did not resemble each other.
In studies of large cohorts of patients with CSS, Wieczorek et al. (2013) and Santen et al. (2013) found that those with CSS3 had the most severe phenotype compared to patients with other forms of CSS. In addition to the typical facial gestalt, hypertrichosis, and hypoplastic or absent fifth finger- and toenails associated with hypoplasia of other nails, these patients had poor overall growth, short stature, microcephaly, severe developmental delay, and feeding problems. Many patients also had seizures, congenital heart defects, hearing impairment, small cerebellum, and abnormal corpus callosum.
Molecular Genetics
In 4 patients with Coffin-Siris syndrome, Tsurusaki et al. (2012) identified a heterozygous missense mutation in the SMARCB1 gene in 1 (601607.0013) and the same single-codon deletion (601607.0012) in 3. Germline heterozygous truncating mutations in SMARCB1 have been reported in individuals with rhabdoid tumor predisposition syndrome-1 (609322), and various types of mutations in SMARCB1 have been reported in the germline of individuals with familial and sporadic schwannomatosis (162091). The SMARCB1 mutations resulting in CSS3 were nontruncating, implying that they exert gain-of-function or dominant-negative effects (excluding haploinsufficiency as a cause).
In a patient with a syndromic form of mental retardation, Kleefstra et al. (2012) detected a missense mutation in the SMARCB1 gene (R37H; 601607.0014). The patient was 1 of 9 patients with syndromic mental retardation who shared core features of Kleefstra syndrome (610253) but who were phenotypically heterogeneous otherwise.
Using a combination of whole-exome sequencing, next-generation sequencing of 23 SWI/SNF complex genes, and molecular karyotyping, Wieczorek et al. (2013) identified mutations in 28 (60%) of 46 patients with a clinical phenotype consistent with Coffin-Siris syndrome or Nicolaides-Baraitser syndrome (NCBRS; 601358), which shows similar features. Only 2 patients had mutations in the SMARCB1 gene, including 1 with an initial diagnosis of NCBRS, suggesting that these syndromes may represent a phenotypic spectrum rather than 2 distinct disorders. Functional studies of the variants and studies of patient cells were not performed.
Santen et al. (2013) identified heterozygous pathogenic mutations in the SMARCB1 gene in 4 unrelated patients with CSS3. The mutations were shown to have occurred de novo in the 3 patients for whom parental DNA was available. Three patients carried the same mutation (K364del; 601607.0012). The patients were ascertained from a large cohort of 63 patients with a clinical diagnosis of CSS who were screened for mutations in the 6 genes of the BAF complex. Functional studies of the variants and studies of patient cells were not performed.
INHERITANCE \- Autosomal dominant GROWTH Height \- Short stature Other \- Intrauterine growth retardation \- Poor overall growth HEAD & NECK Head \- Microcephaly Face \- Coarse facies Ears \- Hearing impairment Eyes \- Visual impairment \- Thick eyebrows \- Long eyelashes Nose \- Flat nasal bridge \- Broad nose \- Anteverted nostrils Mouth \- Large mouth \- Thin upper vermilion \- Thick lower vermilion \- Macroglossia Teeth \- Delayed dentition CARDIOVASCULAR Heart \- Congenital heart defects ABDOMEN Gastrointestinal \- Feeding problems SKELETAL \- Delayed bone age Spine \- Scoliosis Hands \- Hypoplastic to absent terminal phalanges (especially fifth finger) Feet \- Hypoplastic to absent terminal phalanges (especially fifth toe) SKIN, NAILS, & HAIR Nails \- Hypoplastic or absent nails Hair \- Hypertrichosis \- Sparse scalp hair NEUROLOGIC Central Nervous System \- Delayed psychomotor development, severe \- Mental retardation \- Absence of speech \- Hypotonia \- Seizures \- Small cerebellum \- Abnormal corpus callosum MOLECULAR BASIS \- Caused by mutation in the SWI/SNF-related, matrix-associated, actin-dependent regulator of chromatin, subfamily B, member 1 gene (SMARCB1, 601607.0012 ) ▲ Close
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: Dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: Luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone-binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
*[FSH]: Follicle-stimulating hormone
*[HHAT]: hedgehog acyltransferase
*[Hh]: Hedgehog
*[ABS]: amniotic band syndrome
| COFFIN-SIRIS SYNDROME 3 | c0265338 | 30,282 | omim | https://www.omim.org/entry/614608 | 2019-09-22T15:54:48 | {"doid": ["0070045"], "mesh": ["C536436"], "omim": ["614608"], "orphanet": ["1465"], "synonyms": ["Alternative titles", "MENTAL RETARDATION, AUTOSOMAL DOMINANT 15"]} |
Triphalangeal thumbs-brachyectrodactyly syndrome is characterised by triphalangeal thumbs and brachydactyly of the hands. It has been described in four families and in one isolated case. Ectrodactyly of the feet and, more rarely, ectrodactyly of the hands were also reported in some family members. Transmission is autosomal dominant.
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: Dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: Luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone-binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
*[FSH]: Follicle-stimulating hormone
*[HHAT]: hedgehog acyltransferase
*[Hh]: Hedgehog
*[ABS]: amniotic band syndrome
| Triphalangeal thumbs-brachyectrodactyly syndrome | c1860804 | 30,283 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=2947 | 2021-01-23T18:49:29 | {"gard": ["5290"], "mesh": ["C536564"], "omim": ["190680"], "umls": ["C1860804"], "icd-10": ["Q74.8"], "synonyms": ["Carnevale-Hernández-del Castillo syndrome"]} |
Syndrome characterised by eye, central nervous system and skin malformations
Oculocerebrocutaneous syndrome
Other namesDelleman–Oorthuys syndrome[1]
Oculocerebrocutaneous syndrome is a condition characterized by orbital cysts, microphthalmia, porencephaly, agenesis of the corpus callosum, and facial skin tags.[1]
## Contents
* 1 Presentation
* 2 Genetics
* 3 Diagnosis
* 3.1 Differential diagnosis
* 4 Epidemiology
* 5 See also
* 6 References
* 7 External links
## Presentation[edit]
These include
* Skin lesions
* Hypoplastic or aplastic skin defects
* Pedunculated, hamartomatous or nodular skin appendages
* Eye lesions
* Cystic microphthalmia
* Brain lesions
* Forebrain anomalies
* Agenesis of the corpus callosum
* Enlarged lateral ventricles
* Interhemispheric cysts
* Hydrocephalus
* Polymicrogyria
* Periventricular nodular heterotopia
* Mid-hindbrain malformation
* Giant dysplastic tectum
* Absent cerebellar vermis
* Small cerebellar hemispheres
* Large posterior fossa fluid collections
## Genetics[edit]
This is not understood but it is suspected that the gene(s) responsible may lie on the X chromosome.
## Diagnosis[edit]
### Differential diagnosis[edit]
* Aicardi syndrome
* Encephalocraniocutaneous lipomatosis
* Focal dermal hypoplasia
* Oculo-auriculo-vertebral spectrum
## Epidemiology[edit]
This is a rare condition with only 26 cases diagnosed by 2005.
There is a marked male preponderance.
## See also[edit]
* Ocular rosacea
* List of cutaneous conditions
## References[edit]
1. ^ a b Rapini, Ronald P.; Bolognia, Jean L.; Jorizzo, Joseph L. (2007). Dermatology: 2-Volume Set. St. Louis: Mosby. ISBN 978-1-4160-2999-1.
## External links[edit]
Classification
D
* OMIM: 164180
* MeSH: C538088
* DiseasesDB: 32020
This dermatology article is a stub. You can help Wikipedia by expanding it.
* v
* t
* e
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: Dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: Luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone-binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
*[FSH]: Follicle-stimulating hormone
*[HHAT]: hedgehog acyltransferase
*[Hh]: Hedgehog
*[ABS]: amniotic band syndrome
| Oculocerebrocutaneous syndrome | c0796092 | 30,284 | wikipedia | https://en.wikipedia.org/wiki/Oculocerebrocutaneous_syndrome | 2021-01-18T18:38:42 | {"gard": ["106"], "mesh": ["C538088"], "umls": ["C0796092"], "orphanet": ["1647"], "wikidata": ["Q7077152"]} |
A number sign (#) is used with this entry because of evidence that autosomal recessive spinocerebellar ataxia-7 (SCAR7) is caused by compound heterozygous mutation in the TPP1 gene (607998) on chromosome 11p15.
Biallelic mutation in the TPP1 gene can also cause neuronal ceroid lipofuscinosis-2 (CLN2; 204500).
Description
Autosomal recessive spinocerebellar ataxia is a neurologic disorder characterized by onset of progressive gait difficulties, eye movement abnormalities, and dysarthria in the first or second decade of life (summary by Dy et al., 2015).
Clinical Features
Breedveld et al. (2004) reported a Dutch family in which 5 sibs were affected with childhood-onset, slowly progressive spinocerebellar ataxia. The authors assumed autosomal recessive inheritance. All patients were examined as adults (age range from 46 to 64 years). Common clinical features included difficulty walking and writing, dysarthria, limb ataxia, and cerebellar atrophy. Three patients had nystagmus, 4 had saccadic pursuit eye movements, 2 had postural tremor, 4 had hyperreflexia, and 2 had extensor plantar responses. Three patients had decreased vibration sense, suggesting posterior column involvement. Two patients became wheelchair-dependent late in life. The severity of symptoms varied from mild to severe. Loci for common causes of autosomal dominant and autosomal recessive cerebellar ataxia were excluded.
Sun et al. (2013) reported a 51-year-old Dutch woman with SCAR7 confirmed by genetic analysis. She had onset of diplopia at the age of 18 years. She developed gait abnormalities 2 years later and was diagnosed with cerebellar atrophy at age 28. The disorder was slowly progressive, and she could still walk independently in middle age. Other features included loss of dexterity, dysarthria, swallowing difficulties, urinary urgency, and hyperreflexia. Brain MRI showed diffuse cerebellar atrophy, and laboratory studies showed decreased TPP1 activity. There was no family history of a similar disorder.
Dy et al. (2015) reported an 11-year-old girl with SCAR7 confirmed by genetic analysis. She developed fine motor difficulties at age 4 years, followed by gait, balance, coordination, and academic performance issues at age 6. Examination at age 7 showed impaired neurocognitive function with poor language skills and scanning speech. Other features included nystagmus, saccadic pursuits, oculomotor apraxia, dysmetria, truncal titubation, and unsteady gait. Brain imaging showed cerebellar and pontine atrophy as well as ill-defined white matter lesions in the posterior periventricular white matter.
Inheritance
The transmission pattern of SCAR7 in the family reported by Breedveld et al. (2004) was consistent with autosomal recessive inheritance.
Mapping
By genomewide linkage analysis of a Dutch family with autosomal recessive spinocerebellar ataxia, Breedveld et al. (2004) identified a 5.9-cM candidate disease locus on chromosome 11p15 between markers D11S4088 and D11S1331 (maximum lod score of 3.3 at D11S1871).
Molecular Genetics
In affected members of a Dutch family with autosomal recessive spinocerebellar ataxia-7, originally reported by Breedveld et al. (2004), Sun et al. (2013) identified compound heterozygous mutations in the TPP1 gene: a splice site mutation resulting in premature termination (607998.0004) and a missense mutation (V466G; 607998.0010). The mutations, which were found by whole-exome sequencing and confirmed by Sanger sequencing, segregated with the disorder in the family. An unrelated Dutch woman with the disorder was also found to be compound heterozygous for these 2 mutations, although a founder effect could not be confirmed. Residual TPP1 activity in patient lymphocytes was 10 to 15% that of controls, with 5% activity in patient fibroblasts. Electron microscopic analysis of 1 affected family member's skin fibroblasts showed some granular osmiophilic deposits (GROD) and fingerprint profiles, but no curvilinear profiles. Analysis of the unrelated Dutch woman's fibroblasts showed no abnormalities. Sun et al. (2013) suggested that V466G yields a hypomorphic allele with residual functional TPP1 activity, which likely results in a later age at onset and a less severe phenotype in patients with SCAR7 compared to patients with CLN2 (204500), an allelic disorder.
In an 11-year-old girl with SCAR7, Dy et al. (2015) identified compound heterozygous mutations in the TPP1 gene: the common splice site mutation (607998.0004) and a missense mutation (E343D; 607998.0011). The mutations were found by whole-exome sequencing. TPP1 activity in patient cells was significantly decreased (3 to 15%) compared to controls.
INHERITANCE \- Autosomal recessive HEAD & NECK Eyes \- Nystagmus \- Saccadic pursuit movements \- Hypermetric saccades \- Diplopia NEUROLOGIC Central Nervous System \- Cerebellar ataxia \- Clumsiness in childhood \- Gait ataxia \- Limb ataxia \- Postural tremor \- Nystagmus \- Dysarthria \- Writing difficulties \- Hyperreflexia \- Extensor plantar responses \- Decreased vibration sense, suggesting posterior column involvement \- Cerebellar atrophy seen on MRI MISCELLANEOUS \- Onset in childhood or as young adult \- Slow progression \- Highly variable intrafamilial severity MOLECULAR BASIS \- Caused by mutation in the tripeptidyl peptidase 1 gene (TPP1, 607998.0004 ) ▲ Close
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: Dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: Luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone-binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
*[FSH]: Follicle-stimulating hormone
*[HHAT]: hedgehog acyltransferase
*[Hh]: Hedgehog
*[ABS]: amniotic band syndrome
| SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 7 | c1836474 | 30,285 | omim | https://www.omim.org/entry/609270 | 2019-09-22T16:06:20 | {"doid": ["0080059"], "mesh": ["C563753"], "omim": ["609270"], "orphanet": ["284324"]} |
This article does not deal with the more general topic of childhood arthritis.
Juvenile idiopathic arthritis
Other namesJuvenile rheumatoid arthritis
SpecialtyRheumatology
Frequency1 in 1,000[1]
Juvenile idiopathic arthritis (JIA), is the most common, chronic rheumatic disease of childhood, affecting approximately one per 1000 children.[1] Juvenile, in this context, refers to disease onset before age 16 years, while idiopathic refers to a condition with no defined cause, and arthritis is inflammation within the joint.[2]
JIA is an autoimmune, noninfective, inflammatory joint disease, the cause of which remains poorly understood. It is characterised by chronic joint inflammation. JIA is a subset of childhood arthritis, but unlike other, more transient forms of childhood arthritis, JIA persists for at least 6 weeks, and in some children is a lifelong condition. It differs significantly from forms of arthritis commonly seen in adults (osteoarthritis, rheumatoid arthritis), in terms of cause, disease associations and prognosis.
The prognosis for children with JIA has improved dramatically over recent decades, particularly with the introduction of biological therapies and a shift towards more aggressive treatment strategies. JIA treatment aims for normal physical and psychosocial functioning, which is an achievable goal for many children with this condition.[3]
## Contents
* 1 Signs and symptoms
* 1.1 Extra-articular
* 1.2 Complications
* 2 Causes
* 3 Diagnosis
* 3.1 Classification
* 3.1.1 Oligoarticular Arthritis
* 3.1.2 Polyarticular (Rheumatoid Factor Negative) Arthritis
* 3.1.3 Polyarticular (Rheumatoid Factor Positive) Arthritis
* 3.1.4 Systemic-onset Arthritis
* 3.1.5 Enthesitis Related Arthritis
* 3.1.6 Psoriatic Arthritis
* 3.1.7 Undifferentiated Arthritis
* 3.2 Differential diagnosis
* 4 Treatment
* 4.1 Pharmacological treatments
* 4.2 Non-pharmacological treatments
* 4.2.1 Physical therapy and Exercise
* 4.2.2 Occupational Therapy
* 4.2.3 Nursing care in JIA
* 4.2.4 Self Management
* 4.2.5 Education and Employment
* 4.3 eHealth and mobile Health (mHealth) interventions
* 5 Prognosis
* 6 Epidemiology
* 7 Terminology
* 8 Society
* 9 References
* 10 External links
## Signs and symptoms[edit]
Arthritis means inflammation within the joint, and is usually recognised by swelling, pain, stiffness and restricted joint movement. Symptoms of JIA vary from individual to individual. This is mainly because JIA is an umbrella term for several subtypes of JIA, which differ according to the number of affected joints, severity of disease and presence or absence of inflammation in other parts of the body.[citation needed]
The key clinical feature in JIA is persistent swelling of the affected joint(s). Any joint can be affected, but large joints such as the knee and ankle are most commonly involved.[4] Involvement of small joints of the hands and feet is more likely when many joints are affected ('polyarthritis'). Swollen joints may also feel warmer to touch. Swelling may be difficult to detect clinically, especially for joints such as those of the spine, sacroiliac joints, shoulder, hip, and jaw; imaging techniques such as ultrasound or MRI can be very useful to identify the inflammation.[citation needed]
Joint pain is an important symptom, although some children experience minimal or no pain with their arthritis.[5] In these children, the first sign of arthritis may be limping, especially in the morning.[5] Young children are often very good at changing how they move when they have joint pain: they learn to move so that it doesn’t hurt. For example, a child will not push up using an inflamed wrist when climbing, instead putting their weight though the forearm. Morning stiffness that improves later in the day is a common feature (this implies inflammatory-type joint pain versus mechanical-type joint pain).
Swelling and pain usually result in limited movement of the affected joint(s), for example a knee held bent causing a limp, or being unable to make a full fist. Limited movement may reduce a child’s ability to fully participate in activities and undertake usual tasks such as those used for self-care.In some JIA subtypes, more non-specific symptoms of being unwell may be present, such as lethargy, fatigue and poor appetite. Children with systemic JIA usually present with fever and a classic rash and may become quite ill.Late effects of arthritis can include joint contractures (stiff, bent joints with loss of movement) due to joint damage; limb length discrepancies and muscle wasting. Children with JIA vary in the degree to which they are affected by particular symptoms.
### Extra-articular[edit]
Eye disease: JIA is associated with inflammation in the front of the eye (specifically iridocyclitis, a form of chronic anterior uveitis), which affects about one in six children with JIA. Eye involvement occurs most commonly in girls, those with only a few joints involved (oligoarthritis), and those with a positive ANA antibody.[6] It usually follows the onset of arthritis or may be detected at the same time as arthritis; occasionally it may occur before joint involvement. The factors linking eye and joint disease are not clearly understood, and the two do not necessarily follow the same course. This complication is usually asymptomatic (without symptoms) and can occur when the joints are not active. It can be detected by an experienced optometrist or ophthalmologist using a slit lamp to look for inflammatory cells in the fluid inside the eye. Most children with JIA will require referral for regular slit lamp screening examinations. Poorly controlled chronic anterior uveitis may result in permanent eye damage, including blindness.
Systemic JIA: children with the Systemic JIA subtype often experience extra-articular manifestations including fever, rash, enlarged lymph nodes, enlarged liver or spleen, serositis and anaemia.[3]
### Complications[edit]
JIA is a chronic disorder, which if neglected, can lead to serious complications. However, with regular follow-up and modern treatments, complications have reduced and outcomes improved. If inflammation is not treated, it can damage the joint, the cartilage and the bone. With the advent of modern therapies, these complications of JIA have become much less common.[7]
Children with JIA may have a reduced overall rate of growth, especially if the disease involves many joints or other body systems.[8] This may be due to a combination of the disease itself, as well as its treatments, particularly corticosteroid use. Paradoxically, limbs where a large joint (such as the knee) is inflamed may have increased growth in the short term, leading to limb-length discrepancy (ie one arm or leg is slightly longer than the other). This is due to increased blood supply to the bony growth plates surrounding the inflamed joints. Bone density and bone strength may be reduced through a combination of inflammation, corticosteroid use and reduced physical activity levels.[9] Other musculoskeletal complications may include joint contractures, muscle weakness or muscle wasting.[citation needed]
Uveitis, if left untreated, can result in scarring, glaucoma, cataracts, and even blindness. Regular monitoring allows for early detection and treatment. Steroid eye drops are usually the first line treatment for anterior uveitis. However, other treatments - many of which also treat arthritis (eg Methotrexate, biologics) - may be required to keep the inflammation under control, and to minimise steroid use over the longer term. Long term steroid use can cause contribute to the development of cataracts.[6]
Macrophage activation syndrome (MAS) is a severe, potentially life-threatening complication that can occur in patients with the Systemic subtype of JIA. MAS involves uncontrolled activation of the immune system, sometimes referred to as a 'cytokine storm', which can present with a Sepsis-like picture of fever, rash, enlarged liver and spleen, enlarged lymph nodes and cardiorespiratory compromise. It is recognised by a series of characteristic changes in laboratory parameters, including a high ferritin and a paradoxically low Erythrocyte Sedimentation Rate.
## Causes[edit]
The cause of JIA remains unknown. However, the disorder is autoimmune[10] — meaning that the body's own immune system starts to attack and destroy cells and tissues (particularly in the joints) for no apparent reason. The immune system is thought to be provoked by changes in the environment, in combination with mutations in many associated genes[11] and/or other causes of differential expression of genes. Experimental studies have shown that certain mutated viruses may be able to trigger JIA. The disease appears to be more common in girls, and is most common in Caucasians.[12]
The cause of JIA, as the word "idiopathic" suggests, is unknown and an area of active research.[13] Current understanding of JIA suggests that it arises in a genetically susceptible individual due to environmental factors.[14]
## Diagnosis[edit]
The diagnosis of JIA can be difficult, in part because joint pain in children is so common and may be from many causes other than JIA.[15] The characteristic feature of arthritis is joint swelling which is sometimes - but not always - associated with pain. The presence of joint stiffness is another typical feature, particularly when present in the morning and improving with activity.
No single test can confirm a diagnosis of JIA: a combination of presenting signs and symptoms, blood tests, and if necessary medical imaging, is used to make the diagnosis. The blood tests may measure levels of inflammatory markers, as well as the presence of specific immune markers which may include Anti-nuclear antibody, HLA-B27, Rheumatoid factor and Anti–citrullinated protein antibody. These serological markers may be negative in children with JIA, and are often present in healthy children; as such they should not be interpreted in isolation but in the context of the clinical presentation. Many children with JIA have normal blood work. X-rays may be required to ensure that the joint pain and swelling is not from a fracture, cancer, infection, or congenital abnormality. In some cases, fluid from the joint can be aspirated and analysed to assist in making a diagnosis. This test can assist by ruling out other causes of arthritis such as infection.
### Classification[edit]
The current classification system by the International League of Associations for Rheumatology (ILAR) recognizes 7 distinct subtypes of JIA, based on their presentation within the first 6 months: [16] Each subtype has a specific pattern of features as outlined in the table and descriptions below. (The seventh category, not included in the table, is 'Undifferentiated' and includes any patient with JIA who does not meet criteria for other subtypes, or who meets criteria for two or more subtypes).
Oligoarticular Polyarticular (RF negative) Polyarticular (RF positive) Systemic Onset Psoriatic Enthesitis Related Arthritis
% of JIA 50-60 20-30 5-10 10-20 5-15 15
Gender (F:M) 4:1 4:1 9:1 1:1 3:2 1:9
Typical age of onset (years) 2-12 (peak 2-3) 2-12 (peak 2-3) Adolescence Any Mid childhood Adolescence
Joint Pattern Asymmetric; often large joints (knee, ankle, wrist, elbow) Often asymmetric; multiple small and large joints Symmetric; multiple small and large joints Symmetric; multiple small and large joints Asymmetric; small and large joints including hips and especially DIPs Asymmetric; large joints; axial
skeleton
Extra-articular Involvement Uveitis in 20% Painless uveitis (especially if ANA positive) Rheumatoid Nodules Fever, rash, lymphadenopathy, enlarged liver and spleen, Serositis Psoriasis, nail pitting, dactylitis, uveitis in 10%, enthesitis Symptomatic uveitis in 20%, enthesitis, IBD, aortitis
#### Oligoarticular Arthritis[edit]
Oligoarticular (or pauciarticular) JIA is the most common JIA subtype, and occurs when there are up to 4 joints involved during the first 6 months of disease. Two subtypes of oligoarticular arthritis exist: persistent oligoarthritis, where no more than 4 joints are affected throughout the whole disease course; and extended oligoarthritis, where more than 4 joints are affected after the first 6 months of disease. Patients in this subtype are often young, typically aged 2–3 years and with a female preponderance. The most commonly involved joint is the knee, but other affected joints may include the ankles, wrists, elbows and others. The Anti-nuclear antigen (ANA) is positive in up to 80% of patients with oligoarthritis and is associated with a higher risk of associated eye disease (Uveitis), particularly in younger patients.[6] The prefixes "oligo-" and "pauci-" mean "few".
#### Polyarticular (Rheumatoid Factor Negative) Arthritis[edit]
Arthritis involving 5 or more joints in the first 6 months of disease. In this subtype of arthritis both small and large joints are typically involved, usually in an asymmetric pattern. Involved joints may include the jaw (Temperomandibular joint) and cervical spine. Patients in this subtype are Rheumatoid factor negative; Anti-nuclear antibody is positive in approximately 25% of patients. Children with polyarticular JIA are also at risk of developing Uveitis and should also be monitored by an optometrist or ophthalmologist.
#### Polyarticular (Rheumatoid Factor Positive) Arthritis[edit]
Arthritis involving 5 or more joints in the first 6 months, with a positive Rheumatoid factor on at least 2 occasions, tested 3 months apart. In this subtype of arthritis both small and large joints are typically involved, usually in a symmetric pattern. The Anti-nuclear antibody may also be positive in up to 75% of patients. This subtype of arthritis behaves in a very similar fashion to the equivalent adult disease Rheumatoid arthritis. It affects mostly adolescent girls and is typically more aggressive than other forms of JIA in terms of joint damage and the development of erosions in surrounding bone. The clinical presentation is similar to that of Rheumatoid arthritis with a symmetric polyarthritis typically involving the PIP and MCP joints. Children may develop rheumatoid nodules and similar complications to adult disease, including joint erosions.
#### Systemic-onset Arthritis[edit]
Main article: Systemic-onset juvenile idiopathic arthritis
This subtype is an arthritis which involves one or more joints and is associated with a fever of at least 2 weeks’ duration that is documented to be daily for at least 3 days. The fever is typically ‘quotidian’ in nature, occurring once or twice a day (often in the late afternoon or evening) with normal baseline temperatures in between. It is also associated with one or more of the following: a transient erythematous rash that often occurs in association with the fever; enlargement of multiple lymph nodes; the presence of an enlarged liver or spleen; or the presence of Serositis (inflammation surrounding the heart, lungs or abdominal cavity). The rash is often discrete, salmon-pink macules of different sizes which may migrate to different parts of the body. Patients with Systemic-onset juvenile idiopathic arthritis are at risk of a potentially life-threatening complication called Macrophage activation syndrome.Rheumatoid factor and ANA are generally negative in systemic JIA.[citation needed]
#### Enthesitis Related Arthritis[edit]
This subtype of arthritis is diagnosed by the presence of arthritis and enthesitis, or by the presence of arthritis or enthesitis alone with 2 or more of the following features: (1) Presence or history of sacroiliac joint tenderness and/or inflammatory back pain; (2) Presence of the HLA-B27 antigen; (3) Onset of arthritis in a male over 6 years of age; (4) Acute (symptomatic) anterior uveitis; or (5) a history of Ankylosing spondylitis, enthesitis related arthritis, sacroiliitis with Inflammatory bowel disease, or acute anterior Uveitis in a first-degree relative. Enthesitis is tenderness at the insertion sites of tendons, ligaments and fascia caused by inflammation. This type of arthritis is common in adolescent boys and typically affects large joints in the lower limbs, including the hips. It can also involve the Sacroiliac joint and the spine.
#### Psoriatic Arthritis[edit]
This subtype of arthritis is diagnosed by the combination of arthritis and Psoriasis or, arthritis and at least 2 of the following: Dactylitis, nail-pitting, or Psoriasis in a first-degree relative. Psoriatic arthritis is typically asymmetric in its pattern of joint involvement and can involve both large and small joints. A characteristic feature of this type of arthritis is dactylitis, which is caused by inflammation of the flexor tendon and synovium, resulting in sausage-shaped swelling of an entire finger or toe.
#### Undifferentiated Arthritis[edit]
This subtype is diagnosed when a child has JIA that fulfils criteria in none of the subtypes, or in 2 or more of the subtypes of JIA.
### Differential diagnosis[edit]
There are several other disorders and diseases that present with symptoms like JIA. These causes include, but are not limited to, infectious (for example Septic arthritis or Osteomyelitis) and post-infectious conditions (Reactive arthritis, Acute rheumatic fever, and in some geographic areas Lyme disease); hematologic and neoplastic diseases such as leukemia or bony tumors; and other connective tissue diseases (such as Systemic lupus erythematosus). For the Systemic-onset form of JIA, the differential diagnosis also includes Kawasaki disease and periodic fever syndromes. Rarely, skeletal dysplasias or metabolic diseases, such as Farber disease and forms of Mucopolysaccharidosis, may also mimic JIA, as they may present with joint swelling, joint restriction, stiffness, and pain. Patients with Farber disease typically have subcutaneous nodules and a hoarse or weak voice due to growth of nodules on the larynx.
## Treatment[edit]
The major emphasis of the treatment of JIA is helping the child or young person regain normal levels of physical and social functioning by controlling inflammation and extra-articular symptoms. Clinical remission should be the primary target for all patients and treatment should be adjusted until this is achieved.[17] Prompt recognition and management is important as early initiation of therapy increases the likelihood of a response to first-line treatments and of achieving drug-free remission later in life.[18] While overarching consensus treatment guidelines exist, all treatments should be specifically tailored to the individual's needs in discussion with the child or young person and their family.[19][20][21]
Optimal management of JIA requires a multidisciplinary team working to address the needs of an individual patient. Optimising physical and social functioning is accomplished via a two-pronged approach: non-pharmacological strategies such as physical therapies, pain management strategies, and social supports; and the swift use of medication to control inflammation and extra-articular symptoms.[19][22] Early diagnosis and treatment are imperative in helping reduce joint damage and other symptoms, which will help reduce levels of permanent damage leading to long term disability.
### Pharmacological treatments[edit]
Major advances in drug treatments have been made over recent decades. Intra-articular steroid injections and Nonsteroidal anti-inflammatory drugs (NSAIDs), including ibuprofen and naproxen, are often used as first line treatments for most subtypes of JIA. NSAIDs have useful analgesic and anti-inflammatory properties, although they are generally unlikely to lead to remission if used in isolation.
Systemic corticosteroids (oral or intravenous), such as prednisolone, dexamethasone and methylprednisolone, are highly effective treatments, however their utility is limited by their side-effect profile. They have a role in short-term disease control for some patients, but should generally be avoided as long-term treatment options.[17]
Disease-modifying antirheumatic drugs (DMARDs) are required to achieve sustained clinical remission in some patients. Conventional DMARDs include Methotrexate, Sulfasalazine and Leflunomide.
Biologic DMARDs are generally reserved as second-line therapy for patients where treatment with a conventional DMARD has failed. These medications target specific inflammatory cytokines such as Tumor necrosis factor alpha (etanercept, adalimumab, infliximab), Interleukin 6 (tocilizumab) and Interleukin 1 (anakinra).
There are several research groups exploring novel treatments for patients with JIA. Several new biologic DMARDs (anti-interleukin-17A, anti-interferon-gamma) and targeted small molecules (Janus kinase inhibitors) have shown promise in other diseases and are currently undergoing clinical trials in patients with JIA.
Evidence regarding the efficacy of complementary and alternative treatments in managing JIA is generally lacking. There are no controlled studies looking at dietary interventions for JIA and current recommendations suggest a healthy, balanced, age-appropriate diet that meets all nutritional needs.
### Non-pharmacological treatments[edit]
The optimal approach to treating a child with JIA typically involves a team of medical professionals, which may include (but is not limited to) paediatric rheumatologists, paediatric rheumatology nurses, general paediatricians, general practitioners, adult rheumatologists, physical therapists, occupational therapists, podiatrists, psychologists, social workers, pharmacists, ophthalmologists and orthopaedic surgeons. The multi-disciplinary team (MDT) work in conjunction with the child and their parents, the local health service and medical team, the child's school and teachers, community leaders and sports coaches to best support the child and their family.[19]
Together, the team help children to participate as fully and independently as possible in their daily activities by maximising quality of life, maximising function and minimising disruption to the life of the child or young person.
The multidisciplinary team work together to provide the child and their family with support and education about JIA, strategies to promote age-appropriate self-sufficiency and help the child to adapt and adjust to any challenges they face. There are many ways to make daily tasks easier or more manageable. One of the key ways the multidisciplinary team helps children with JIA is to involve them, and their families, in the decision-making process regarding their treatment and rehabilitation.
In young children with JIA, symptoms may result in either delay or regression in developmental milestones such as walking, running or climbing. Upper limb function may also be affected. Members of the multidisciplinary team can perform developmental assessments to identify deficits and guide treatments. The information gathered can be shared with schools and child care facilities.
One of the key ways occupational or physical therapists help young children with JIA is by developing a home therapy program based around play. Exercises are prescribed by both PTs and OTs to increase the range a child can move a joint, to strengthen the muscles around a joint, to decrease pain and stiffness and to prevent further limitations in their joint movements. OTs and PTs can provide children with age-appropriate games and activities to allow the children to practice their exercises while playing and socializing with friends. Examples are crafts, swimming, and sports.[23]
Children with JIA may experience challenges with low mood, social interaction, reduced self-confidence and negative self-image. Psychologists, OT's, nurses, social workers and other team members can work with the child and their family to develop strategies to help with these issues. Many JIA support organisations run camps and activities for children with JIA and their families.
Surgery is only used to treat the most severe cases of JIA and is now rarely required.[3]
#### Physical therapy and Exercise[edit]
Maintaining physical activity is important in all children, but especially for children with JIA. The physical therapist has a role in guiding physical rehabilitation (muscle stretching and strengthening, enhancing joint range of movement, improving balance, etc); optimising physical functioning; goal-setting; and improving a child’s confidence in their own body. They usually work with the child and family to develop a home exercise program which changes over time as the child makes progress.
Arthritis in childhood can be associated with muscle weakness and wasting around the affected joints. It can also lead to low bone density, which may predispose to osteoporosis and fractures in adulthood. Getting regular exercise is an important part of the management of JIA to promote bone and muscle health.[24][25]
There is variation in the exact exercise prescription which best promotes musculoskeletal health whilst reducing fatigue, pain and swelling. Consensus is that children with JIA should be following national public health standards of physical activity and participating in moderate fitness, flexibility, and strengthening exercises, compatible with their abilities and disease restrictions.[26][27]
It is important that - across the week - the exercise is a combination of moderate to vigorous cardiovascular activity (eg walking to school, scooting, bike-riding, playing tag, dancing, doing P.E, sports such as basketball or football) and strengthening exercises. Bone strengthening activities build up muscles; by having the muscles push and pull against the bone, the bones themselves get stronger. This can include things like playing on climbing equipment, swinging on monkey-bars, using weights, carrying groceries, skipping or running.
A Cochrane meta-analysis looking at existing RCT’s showed in all studies that exercise does not have a detrimental effect on JIA. In fact, there is evidence to show that both low and high-intensity exercise programs result in improved physical function and reduced pain in children with JIA. Guidelines indicate that children with JIA should be encouraged to be physically active and can safely participate in sports without disease exacerbation. Those with actively inflamed joints should limit activities within pain limits, then gradually return to full activity following a disease flare.[26][28]
It may be necessary to use aids like splints or casts to correct biomechanics, but prolonged splinting and casting are now rarely indicated for children with JIA. Following joint injections, children are often advised to ‘take it easy’, often undertaking 1–2 days of low activity, although advice around this varies.[29] When a joint (usually a knee) loses range of motion due to prolonged inflammation and pain, a series of plaster casts may be used to gradually extend shortened muscles and restore range. These serial casts are usually applied over days to weeks. Active strengthening and lengthening is used in conjunction with serial casting for optimal results.
Some children may benefit from foot orthotics to support and correct body position and function. Orthotics maintain biomechanical alignment and may reduce discomfort in the legs and back when children participate in physical activities such as sports.
#### Occupational Therapy[edit]
Many children with JIA will benefit from seeing an Occupational Therapist, who can provide strategies to assist in to maximizing independence in activities and routines. For example, thinking about how to simplify tasks or using aids or equipment can allow a child to complete tasks themselves; OT’s also provide advice on how to make tasks easier, less painful and more enjoyable. This may include suggestions around types of clothes or shoes to wear; using ergonomic cutlery or pens to make writing and eating easier; and learning how to conserve energy and protect joints while completing routine tasks. Pacing is an important skill, so that children learn to make the most of their energy by prioritizing jobs, learning to break tasks down into smaller components, to be flexible with changing plans and to build up muscle strength and stamina to maximize fitness.
During periods of flare, splints may be used to support the joints during activity, to reduce the children's pain and increase participation in their preferred leisure activities. If prescribed, these are only for short periods of time as prolonged splinting can result in further muscle weakness. Resting splints, usually worn at night, are now rarely prescribed.
#### Nursing care in JIA[edit]
Paediatric rheumatology nurses provide health and medical care for children and young people with rheumatic disease, from birth through to late adolescence. They are employed by many large hospitals, and also in some private rheumatology practices. They work as part of the multidisciplinary team to support the child and their family at the time of diagnosis and throughout the child’s illness. Paediatric rheumatology nurses have specialist skills and experience which allow them to work with children, young people and their families to address any concerns, fears and problems, including those around treatment and medication administration.
Paediatric rheumatology nurses work holistically with the entire family unit. They are often involved with the child and family in the planning of care, determining the child’s capabilities and working with day care, early childhood education and schools to ensure the patient has comprehensive support in all aspects of their life.
The diagnosis of a rheumatological condition can be devastating for the child and parents, and often has a ripple effect on the family unit. The paediatric rheumatology nurse provides support, education, advocacy, information, empathy and understanding to both the patient and their family, and assists in alleviating the anxieties and concerns of the parents / carers.
The goals of paediatric rheumatology nursing care include: assisting in normalising the life of the child after diagnosis; minimising the impact of the child's condition; optimising growth and development; assisting the family in developing realistic, functional and coordinated home care plans; respecting the roles of the families in the care of their children; prevention of disease; and promotion of the overall health of the child.
Education on paediatric rheumatology conditions and medications is a core part of the role of the paediatric rheumatology nurse. Empowering the patient, and their family, with age appropriate knowledge and understanding of the child’s condition is crucial. Nurses also work with patients to help them accept and adjust to the hospital setting, and prepare them for medical treatments and procedures in the event they are required. They often provide advice and instruction at a time of disease flare or other acute medical issue.
Many of the medications used in paediatric rheumatology suppress the immune system. It is imperative that an understanding of all facets of all prescribed medications is imparted to the patient (age dependant) and their families. This is usually the combined role of the rheumatologist and the rheumatology nurse.
#### Self Management[edit]
Pain is the most common and often the most distressing symptom of JIA (although some children with JIA do have joint inflammation without any pain at all). Pain can occur even when children are receiving effective doses of therapies which are managing their underlying disease.
Pain has been found to negatively impact all aspects of quality of life and is associated with a reduction in physical, social and emotional functioning. Children who have higher levels of pain, tend to have reduced levels of socialization, school attendance and participation in activities. Increased pain is also correlated with poor sleep and higher fatigue in children with JIA.
The causation of pain in JIA is multifactorial. There are disease related factors, which relate to the inflammatory process, and anatomical or biomechanical changes that are associated with joint swelling and joint disease. There are psychological factors around dealing with stress, coping with a chronic illness and managing anxiety or depression which can influence the perception of pain and the degree of functional impairment. There are also social factors, which relate to family and peer relationships, parental distress and social and financial supports.
Given the waxing and waning nature of JIA, children’s physical abilities, pain and mood can change during periods of flare or remission. Coping with chronic illness during childhood and adolescence is associated with significant stress that can put children at risk for emotional or behavioural distress and can interfere with compliance and adherence to treatment regimes. Managing JIA can be a challenge and it is important to have a toolbox of skills, supports and strategies to draw upon to manage the ups and downs of having a chronic illness.
There are many things that can help children with JIA to grow up to have full and active lives. Having good sleep habits and routines gives a child the best chance of having a refreshing night's sleep and preventing daytime fatigue. This in turn affects concentration, energy levels, memory and mood. Most children need between 8 to 12 hours of sleep to feel refreshed, depending on age.[30] Simple strategies like maintaining regular bed-times, limiting screen time to two-hours before bed, having a sleep ritual, avoiding napping during the day, avoiding sugary and caffeinated drinks, having a healthy well-balanced diet, regular exercise and using relaxation techniques can assist in having good night’s sleep.
Relaxation techniques can also help to reduce stress, physical tension and be a useful pain management technique. There are a variety of mindfulness strategies which include things like deep breathing, guided-imagery or progressive muscle relaxation. All techniques need to be practiced over time, and it may be necessary to try different combinations to find the method that works best for each individual. These techniques are readily available online, in books, recordings, apps or by seeing a trained professional such as a psychologist.
#### Education and Employment[edit]
Most children with JIA will be able to consistently attend school, without too many disruptions, even during a disease flare. However, they may require extra help or adaptations in order to do so. Maximising school attendance involves collaboration between the family, the school and the health care team. Prolonged or repeated school absences can have academic, social and emotional implications; except in rare circumstances they are rarely necessary (other than absences for medical or therapy appointments).
These adaptations may include requiring extra time to get between classes or during examinations, using specialised pens or switching to typing rather than handwriting, or minimising the load of heavy books or equipment to be carried in a child’s school bag. The exact requirements will vary from child-to-child and will depend on the joints affected. In many instances, the child’s treating team will be able to provide specific advice and information for teachers and coaches to smooth the transition back to school.[31] This may take the form of an individualized plan outlining any extra measures that need to be taken at school, what to do in the case of unexpected events or medication administration during school hours. It is important to remember that JIA can be disruptive not just to the academic aspects of school. It is equally important to optimise school attendance so that the child can maintain friendships and keep up with opportunities to socialize with peers.
As adolescents progress through high school, they may need to factor their current medical status and functional abilities into decisions around their future education and employment plans. Most children with JIA will not be restricted in their study goals or professional aspirations. Students with JIA can usually apply for special arrangements during assessment periods, such as additional time to allow for rest / stretch periods and use of adaptive equipment in some situations. These applications often need to be supported by the treating medical team. The treating team can assist adolescents in finding ways to tell their employers about their condition in a positive way. OTs and social workers can also help teenagers understand their rights as an employee with a chronic illness. It is important that adolescents with JIA understand how to take care of themselves and manage their disease when working full-time or attending higher education. The team will also support those patients who still require medical input through the transition process from paediatric to adult services.
### eHealth and mobile Health (mHealth) interventions[edit]
A new emerging area of support for disease management is through digital technology using eHealth and mobile health (mHealth) interventions. These interventions have to potential to support the development of self-management skills, or assist the healthcare team to monitor symptoms. For JIA, current studies have focused on the health issues pain, health related quality of life, physical activity and disease management. Children and adolescents have used these interventions through a range of devices including computers, laptops, personal digital assistants, multimedia-players, and wearable accelerometers synchronised to smart phone. This allows access to these interventions from home. Early usability studies have been gaining positive feedback by children and adolescents. They are familiar with this type of technology and report liking these interventions. However further research is still needed to understand their full potential in supporting children and adolescents living with complex needs.[32]
## Prognosis[edit]
At the time of receiving a JIA diagnosis, children and their families often have many questions regarding prognosis. Recent therapeutic advances in the management of JIA have made inactive disease and clinical remission achievable goals for the majority of children with access to modern treatments. Clinical remission can be defined as the absence of signs and symptoms of inflammatory disease activity, including extra-articular manifestations of the disease. Differentiating subtypes of JIA helps to target treatment and leads to more positive outcomes, however subtype is not the only predictor of JIA outcome. Poor prognostic factors include arthritis of the hip, cervical spine, ankles or wrists; prolonged elevation of inflammatory markers; and radiographic evidence of joint damage including erosions or joint space narrowing. Patients with RF-positive polyarthritis often have worse outcomes associated with more aggressive disease. Despite this, the probability of this subgroup achieving inactive disease at least once within 5 years was shown to be 90% in a large Canadian study.[33] Research is currently being undertaken into clinical prediction models to allow earlier identification of children who are likely to have a worse prognosis.[34] Compliance with therapy, especially medication, has a positive correlation with disease outcome.
Research into specific JIA biomarkers is currently underway, with the goal of forming more personalized treatment plans, reducing medication side effects and improving remission rates. Current areas of investigation include clinical, protein, genetic and radiological markers, amongst others.[35]
Children with JIA demonstrate similar levels of depression and anxiety to children with other chronic diseases however causality has not been established. The unpredictable and undulating course of JIA disease activity and the need for ongoing procedural interventions may contribute.
It has been previously suggested that children with JIA are at an increased risk of malignancies when being treated with anti-TNF therapy. More recent data has not confirmed this association: it is thought that the disease itself is linked with a slightly higher background risk of malignancy. Ongoing data analysis on large patient populations continues in this area.[36]
## Epidemiology[edit]
Juvenile Idiopathic Arthritis is the most common, chronic rheumatic disease of childhood. In high-income countries, yearly incidence has been estimated at 2–20 cases per 100 000 population; prevalence in these areas is estimated at 16–150 cases per 100 000 population.[37] However, there is also a suggestion that these numbers underestimate disease prevalence: one community-based survey of school children in Western Australia reported a prevalence of 400 per 100 000.[38] Overall prevalence is often summarised as 1 per thousand children.[1][39][31][40]
Incidence and prevalence data vary across different population and ethnic groups, with lower overall prevalence in Afro-Caribbean and Asian populations. There are also ethnic differences in the frequency of JIA subtypes: for example, oligoarthritis is the most common subtype in European populations, whilst polyarticular disease predominates in many other countries including Costa Rica, India, New Zealand, and South Africa.[41]
There are differences in age of onset, gender and disease outcomes based on JIA subtype: these are outlined in the table above.
## Terminology[edit]
The terminology used to describe JIA is evolving, and each term has some limitations.
Previous terminology included Juvenile Rheumatoid Arthritis and Juvenile Chronic Arthritis. These terms were replaced in 1997 with the release of the revised ILAR (International League of Associations for Rheumatology) classification criteria.[42]
There is currently an international movement underway to further revise the classification criteria for JIA, although this is in a preliminary phase.[43]
MeSH uses "juvenile arthritis" as the primary entry, and uses "idiopathic", "chronic" and "rheumatoid" in alternate entries.[44]
## Society[edit]
Some famous people with this condition are:
* Antoni Gaudi, architect[45]
* Clark Middleton, actor
* Claire Cottrill, singer-songwriter
* Rosemary Sutcliff, author
## References[edit]
1. ^ a b c Harris, Julia G.; Kessler, Elizabeth A.; Verbsky, James W. (21 April 2013). "Update on the Treatment of Juvenile Idiopathic Arthritis". Current Allergy and Asthma Reports. 13 (4): 337–346. doi:10.1007/s11882-013-0351-2. PMC 3729726. PMID 23605168.
2. ^ Prakken, B; Albani, S; Martini, A (18 June 2011). "Juvenile idiopathic arthritis". Lancet. 377 (9783): 2138–49. doi:10.1016/S0140-6736(11)60244-4. PMID 21684384. S2CID 202802455.
3. ^ a b c Giancane, Gabriella; Consolaro, Alessandro; Lanni, Stefano; Davì, Sergio; Schiappapietra, Benedetta; Ravelli, Angelo (12 August 2016). "Juvenile Idiopathic Arthritis: Diagnosis and Treatment". Rheumatology and Therapy. 3 (2): 187–207. doi:10.1007/s40744-016-0040-4. PMC 5127964. PMID 27747582.
4. ^ Hemke, Robert; Nusman, Charlotte M.; van der Heijde, Désirée M. F. M.; Doria, Andrea S.; Kuijpers, Taco W.; Maas, Mario; van Rossum, Marion A. J. (14 August 2014). "Frequency of joint involvement in juvenile idiopathic arthritis during a 5-year follow-up of newly diagnosed patients: implications for MR imaging as outcome measure". Rheumatology International. 35 (2): 351–357. doi:10.1007/s00296-014-3108-x. PMID 25119829. S2CID 859955.
5. ^ a b "American College of Rheumatology: Juvenile Arthritis". www.rheumatology.org. Retrieved 13 March 2020.
6. ^ a b c Sen, Ethan S.; Dick, Andrew D.; Ramanan, Athimalaipet V. (31 March 2015). "Uveitis associated with juvenile idiopathic arthritis". Nature Reviews Rheumatology. 11 (6): 338–348. doi:10.1038/nrrheum.2015.20. PMID 25825278. S2CID 12096252.
7. ^ Foster, H.; Rapley, T.; May, C. (17 November 2009). "Juvenile idiopathic arthritis: improved outcome requires improved access to care". Rheumatology. 49 (3): 401–403. doi:10.1093/rheumatology/kep347. PMID 19920094.
8. ^ Bechtold, Susanne; Simon, Dominique (24 April 2014). "Growth abnormalities in children and adolescents with juvenile idiopathic arthritis". Rheumatology International. 34 (11): 1483–1488. doi:10.1007/s00296-014-3022-2. PMID 24760485. S2CID 10546793.
9. ^ Burnham, Jon M.; Shults, Justine; Dubner, Sarah E.; Sembhi, Harjeet; Zemel, Babette S.; Leonard, Mary B. (August 2008). "Bone density, structure, and strength in juvenile idiopathic arthritis: Importance of disease severity and muscle deficits". Arthritis & Rheumatism. 58 (8): 2518–2527. doi:10.1002/art.23683. PMC 2705769. PMID 18668565.
10. ^ Prahalad S, Glass DN (2002). "Is juvenile rheumatoid arthritis/juvenile idiopathic arthritis different from rheumatoid arthritis?". Arthritis Research. 4 (Suppl 3): 303–310. doi:10.1186/ar594. PMC 3273047.
11. ^ Hinks A, Cobb J, Marion MC, Prahalad S, Sudman M, Bowes J, et al. (June 2013). "Dense genotyping of immune-related disease regions identifies 14 new susceptibility loci for juvenile idiopathic arthritis". Nature Genetics. 45 (6): 664–9. doi:10.1038/ng.2614. PMC 3673707. PMID 23603761.
12. ^ "Juvenile Arthritis". Retrieved 2010-04-19.
13. ^ Phelan JD, Thompson SD (September 2006). "Genomic progress in pediatric arthritis: recent work and future goals". Current Opinion in Rheumatology. 18 (5): 482–9. doi:10.1097/01.bor.0000240359.30303.e4. PMID 16896287. S2CID 7356346.
14. ^ Førre O, Smerdel A (2002). "Genetic epidemiology of juvenile idiopathic arthritis". Scandinavian Journal of Rheumatology. 31 (3): 123–8. doi:10.1080/713798345. PMID 12195624.
15. ^ Balan, Suma (9 January 2016). "Approach to Joint Pain in Children". The Indian Journal of Pediatrics. 83 (2): 135–139. doi:10.1007/s12098-015-2016-8. PMID 26747081. S2CID 207388664.
16. ^ Petty, RE; Southwood, TR; Manners, P; Baum, J; Glass, DN; Goldenberg, J; He, X; Maldonado-Cocco, J; Orozco-Alcala, J; Prieur, AM; Suarez-Almazor, ME; Woo, P; International League of Associations for, Rheumatology. (February 2004). "International League of Associations for Rheumatology classification of juvenile idiopathic arthritis: second revision, Edmonton, 2001". The Journal of Rheumatology. 31 (2): 390–2. PMID 14760812.
17. ^ a b Ravelli, Angelo; Consolaro, Alessandro; Horneff, Gerd; Laxer, Ronald M; Lovell, Daniel J; Wulffraat, Nico M; Akikusa, Jonathan D; Al-Mayouf, Sulaiman M; Antón, Jordi; Avcin, Tadej; Berard, Roberta A; Beresford, Michael W; Burgos-Vargas, Ruben; Cimaz, Rolando; De Benedetti, Fabrizio; Demirkaya, Erkan; Foell, Dirk; Itoh, Yasuhiko; Lahdenne, Pekka; Morgan, Esi M; Quartier, Pierre; Ruperto, Nicolino; Russo, Ricardo; Saad-Magalhães, Claudia; Sawhney, Sujata; Scott, Christiaan; Shenoi, Susan; Swart, Joost F; Uziel, Yosef; Vastert, Sebastiaan J; Smolen, Josef S (11 April 2018). "Treating juvenile idiopathic arthritis to target: recommendations of an international task force". Annals of the Rheumatic Diseases. 77 (6): annrheumdis-2018-213030. doi:10.1136/annrheumdis-2018-213030. hdl:11449/171016. PMID 29643108. S2CID 4830829.
18. ^ Minden, Kirsten; Horneff, Gerd; Niewerth, Martina; Seipelt, Eva; Aringer, Martin; Aries, Peer; Foeldvari, Ivan; Haas, Johannes‐Peter; Klein, Ariane; Tatsis, Stefanie; Tenbrock, Klaus; Zink, Angela; Klotsche, Jens (28 March 2019). "Time of Disease‐Modifying Antirheumatic Drug Start in Juvenile Idiopathic Arthritis and the Likelihood of a Drug‐Free Remission in Young Adulthood". Arthritis Care & Research. 71 (4): 471–481. doi:10.1002/acr.23709. PMID 30044538. S2CID 51715770.
19. ^ a b c Davies, K.; Cleary, G.; Foster, H.; Hutchinson, E.; Baildam, E. (19 February 2010). "BSPAR Standards of Care for children and young people with juvenile idiopathic arthritis". Rheumatology. 49 (7): 1406–1408. doi:10.1093/rheumatology/kep460. PMID 20173199.
20. ^ Ringold, Sarah; Angeles‐Han, Sheila T.; Beukelman, Timothy; Lovell, Daniel; Cuello, Carlos A.; Becker, Mara L.; Colbert, Robert A.; Feldman, Brian M.; Ferguson, Polly J.; Gewanter, Harry; Guzman, Jaime; Horonjeff, Jennifer; Nigrovic, Peter A.; Ombrello, Michael J.; Passo, Murray H.; Stoll, Matthew L.; Rabinovich, C. Egla; Schneider, Rayfel; Halyabar, Olha; Hays, Kimberly; Shah, Amit Aakash; Sullivan, Nancy; Szymanski, Ann Marie; Turgunbaev, Marat; Turner, Amy; Reston, James (25 April 2019). "2019 American College of Rheumatology/Arthritis Foundation Guideline for the Treatment of Juvenile Idiopathic Arthritis: Therapeutic Approaches for Non‐Systemic Polyarthritis, Sacroiliitis, and Enthesitis". Arthritis Care & Research. 71 (6): 717–734. doi:10.1002/acr.23870. PMC 6561125. PMID 31021516.
21. ^ CELLUCCI, TANIA; GUZMAN, JAIME; PETTY, ROSS E.; BATTHISH, MICHELLE; BENSELER, SUSANNE M.; ELLSWORTH, JANET E.; HOUGHTON, KRISTIN M.; LeBLANC, CLAIRE M.A.; HUBER, ADAM M.; LUCA, NADIA; SCHMELING, HEINRIKE; SHIFF, NATALIE J.; SOON, GORDON S.; TSE, SHIRLEY M.L. (1 October 2016). "Management of Juvenile Idiopathic Arthritis 2015: A Position Statement from the Pediatric Committee of the Canadian Rheumatology Association". The Journal of Rheumatology. 43 (10): 1773–1776. doi:10.3899/jrheum.160074. PMID 27698103.
22. ^ Ringold, Sarah; Angeles‐Han, Sheila T.; Beukelman, Timothy; Lovell, Daniel; Cuello, Carlos A.; Becker, Mara L.; Colbert, Robert A.; Feldman, Brian M.; Ferguson, Polly J.; Gewanter, Harry; Guzman, Jaime; Horonjeff, Jennifer; Nigrovic, Peter A.; Ombrello, Michael J.; Passo, Murray H.; Stoll, Matthew L.; Rabinovich, C. Egla; Schneider, Rayfel; Halyabar, Olha; Hays, Kimberly; Shah, Amit Aakash; Sullivan, Nancy; Szymanski, Ann Marie; Turgunbaev, Marat; Turner, Amy; Reston, James (25 April 2019). "2019 American College of Rheumatology/Arthritis Foundation Guideline for the Treatment of Juvenile Idiopathic Arthritis: Therapeutic Approaches for Non‐Systemic Polyarthritis, Sacroiliitis, and Enthesitis". Arthritis Care & Research. 71 (6): 717–734. doi:10.1002/acr.23870. PMC 6561125. PMID 31021516.
23. ^ De Monte R, Rodger S, Jones F, Broderick S (August 2009). "Living with juvenile idiopathic arthritis: children's experiences of participating in home exercise programmes". British Journal of Occupational Therapy. 72 (8): 357–65. doi:10.1177/030802260907200806. S2CID 72219322.
24. ^ Stagi, Stefano; Cavalli, Loredana; Signorini, Carla; Bertini, Federico; Cerinic, Marco; Brandi, Maria; Falcini, Fernanda (2014). "Bone mass and quality in patients with juvenile idiopathic arthritis: longitudinal evaluation of bone-mass determinants by using dual-energy x-ray absorptiometry, peripheral quantitative computed tomography, and quantitative ultrasonography". Arthritis Research & Therapy. 16 (2): R83. doi:10.1186/ar4525. PMC 4060444. PMID 24684763.
25. ^ Long, Amy R; Rouster-Stevens, Kelly A (March 2010). "The role of exercise therapy in the management of juvenile idiopathic arthritis". Current Opinion in Rheumatology. 22 (2): 213–217. doi:10.1097/BOR.0b013e328335d1a2. PMID 20010296. S2CID 25442812.
26. ^ a b Philpott, John F; Houghton, Kristin; Luke, Anthony (May 2010). "Physical Activity Recommendations for Children With Specific Chronic Health Conditions: Juvenile Idiopathic Arthritis, Hemophilia, Asthma, and Cystic Fibrosis". Clinical Journal of Sport Medicine. 20 (3): 167–172. doi:10.1097/JSM.0b013e3181d2eddd. PMC 2866314. PMID 20445355.
27. ^ "Time to Move: Juvenile Idiopathic Arthritis" (PDF). Arthritis Australia. Retrieved 17 March 2020.
28. ^ Takken, Tim; Van Brussel, Marco; Engelbert, Raoul H.H.; van der Net, Janjaap J; Kuis, Wietse; Helders, Paul PJM (23 April 2008). "Exercise therapy in juvenile idiopathic arthritis". Cochrane Database of Systematic Reviews (2): CD005954. doi:10.1002/14651858.CD005954.pub2. PMID 18425929.
29. ^ Gotte, Alisa (May 2009). "Intra-articular corticosteroids in the treatment of juvenile idiopathic arthritis: Safety, efficacy, and features affecting outcome. A comprehensive review of the literature". Open Access Rheumatology: Research and Reviews. 1: 37–49. doi:10.2147/oarrr.s5103. PMC 5074724. PMID 27789980.
30. ^ "How Much Sleep Do Babies and Kids Need? | National Sleep Foundation". www.sleepfoundation.org.
31. ^ a b "Teacher's guide to JIA". Arthritis Australia.
32. ^ https://pediatrics.jmir.org/2020/2/e15833/
33. ^ Guzman, Jaime; Oen, Kiem; Tucker, Lori B; Huber, Adam M; Shiff, Natalie; Boire, Gilles; Scuccimarri, Rosie; Berard, Roberta; Tse, Shirley M L; Morishita, Kimberly; Stringer, Elizabeth; Johnson, Nicole; Levy, Deborah M; Duffy, Karen Watanabe; Cabral, David A; Rosenberg, Alan M; Larché, Maggie; Dancey, Paul; Petty, Ross E; Laxer, Ronald M; Silverman, Earl; Miettunen, Paivi; Chetaille, Anne-Laure; Haddad, Elie; Houghton, Kristin; Spiegel, Lynn; Turvey, Stuart E; Schmeling, Heinrike; Lang, Bianca; Ellsworth, Janet; Ramsey, Suzanne; Bruns, Alessandra; Campillo, Sarah; Benseler, Susanne; Chédeville, Gaëlle; Schneider, Rayfel; Yeung, Rae; Duffy, Ciarán M (October 2015). "The outcomes of juvenile idiopathic arthritis in children managed with contemporary treatments: results from the ReACCh-Out cohort". Annals of the Rheumatic Diseases. 74 (10): 1854–1860. doi:10.1136/annrheumdis-2014-205372. PMID 24842571. S2CID 44612457.
34. ^ Henrey, Andrew; Rypdal, Veronika; Rypdal, Martin; Loughin, Thomas; Nordal, Ellen; Guzman, Jaime (15 January 2020). "Validation of prediction models of severe disease course and non-achievement of remission in juvenile idiopathic arthritis part 2: results of the Nordic model in the Canadian cohort". Arthritis Research & Therapy. 22 (1): 10. doi:10.1186/s13075-019-2091-8. PMC 6964007. PMID 31941530.
35. ^ Duurland, Chantal L.; Wedderburn, Lucy R. (21 January 2014). "Current Developments in the Use of Biomarkers for Juvenile Idiopathic Arthritis". Current Rheumatology Reports. 16 (3): 406. doi:10.1007/s11926-013-0406-3. PMC 3930839. PMID 24445961.
36. ^ Beukelman, Timothy; Xie, Fenglong; Chen, Lang; Horton, Daniel B; Lewis, James D; Mamtani, Ronac; Mannion, Melissa M; Saag, Kenneth G; Curtis, Jeffrey R (July 2018). "Risk of malignancy associated with paediatric use of tumour necrosis factor inhibitors". Annals of the Rheumatic Diseases. 77 (7): 1012–1016. doi:10.1136/annrheumdis-2017-212613. PMC 6094159. PMID 29440001.
37. ^ Prakken, Berent; Albani, Salvatore; Martini, Alberto (June 2011). "Juvenile idiopathic arthritis". The Lancet. 377 (9783): 2138–2149. doi:10.1016/S0140-6736(11)60244-4. PMID 21684384. S2CID 202802455.
38. ^ Manners, PJ; Diepeveen, DA (July 1996). "Prevalence of juvenile chronic arthritis in a population of 12-year-old children in urban Australia". Pediatrics. 98 (1): 84–90. PMID 8668417.
39. ^ "Juvenile Idiopathic Arthritis" (PDF). RACGP.
40. ^ "Rheumatology : Information on JIA for young people". www.rch.org.au.
41. ^ Ravelli, Angelo; Martini, Alberto (March 2007). "Juvenile idiopathic arthritis". The Lancet. 369 (9563): 767–778. doi:10.1016/S0140-6736(07)60363-8. PMID 17336654. S2CID 53265788.
42. ^ Petty, RE; Southwood, TR; Baum, J; Bhettay, E; Glass, DN; Manners, P; Maldonado-Cocco, J; Suarez-Almazor, M; Orozco-Alcala, J; Prieur, AM (October 1998). "Revision of the proposed classification criteria for juvenile idiopathic arthritis: Durban, 1997". The Journal of Rheumatology. 25 (10): 1991–4. PMID 9779856.
43. ^ Martini, Alberto; Ravelli, Angelo; Avcin, Tadej; Beresford, Michael W.; Burgos-Vargas, Ruben; Cuttica, Ruben; Ilowite, Norman T.; Khubchandani, Raju; Laxer, Ronald M.; Lovell, Daniel J.; Petty, Ross E.; Wallace, Carol A.; Wulffraat, Nico M.; Pistorio, Angela; Ruperto, Nicolino (February 2019). "Toward New Classification Criteria for Juvenile Idiopathic Arthritis: First Steps, Pediatric Rheumatology International Trials Organization International Consensus". The Journal of Rheumatology. 46 (2): 190–197. doi:10.3899/jrheum.180168. PMID 30275259.
44. ^ "MeSH Browser". meshb.nlm.nih.gov.
45. ^ Azevedo, Valderílio F.; Diaz-Torne, Cesar (December 2008). "The Arthritis of Antoni Gaudí". JCR: Journal of Clinical Rheumatology. 14 (6): 367–369. doi:10.1097/RHU.0b013e31818ee74c. PMID 19060668.
## External links[edit]
* Arthritis Australia, Juvenile Idiopathic Arthritis
* JIA@NRAS (UK)
* JIA \- NIH Medline Plus.
Classification
D
* ICD-10: M08.0
* ICD-9-CM: 714.3
* OMIM: 604302
* MeSH: D001171
* DiseasesDB: 12430
External resources
* MedlinePlus: 000451
* eMedicine: ped/1749
* Patient UK: Juvenile idiopathic arthritis
* v
* t
* e
Diseases of joints
General
* Arthritis
* Monoarthritis
* Oligoarthritis
* Polyarthritis
Symptoms
* Joint pain
* Joint stiffness
Inflammatory
Infectious
* Septic arthritis
* Tuberculosis arthritis
Crystal
* Chondrocalcinosis
* CPPD (Psudogout)
* Gout
Seronegative
* Reactive arthritis
* Psoriatic arthritis
* Ankylosing spondylitis
Other
* Juvenile idiopathic arthritis
* Rheumatoid arthritis
* Felty's syndrome
* Palindromic rheumatism
* Adult-onset Still's disease
Noninflammatory
* Hemarthrosis
* Osteoarthritis
* Heberden's node
* Bouchard's nodes
* Osteophyte
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: Dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: Luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone-binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
*[FSH]: Follicle-stimulating hormone
*[HHAT]: hedgehog acyltransferase
*[Hh]: Hedgehog
*[ABS]: amniotic band syndrome
| Juvenile idiopathic arthritis | c0157917 | 30,286 | wikipedia | https://en.wikipedia.org/wiki/Juvenile_idiopathic_arthritis | 2021-01-18T18:46:13 | {"gard": ["3067"], "umls": ["C0157916", "C0157918", "C0409667", "C0157917"], "orphanet": ["92"], "wikidata": ["Q861224"]} |
Foodborne botulism is the most common form of botulism (see this term), a rare acquired neuromuscular junction disease with descending flaccid paralysis due to botulinum neurotoxins (BoNTs). It is caused by consumption of contaminated food containing BoNTs.
## Epidemiology
Prevalence is unknown. The annual incidence in Europe is 1/900,000 to 1/500,000. To date, about 40,000 cases have been reported worldwide.
## Clinical description
Onset of symptoms occurs in adults generally within 12 to 36-48 hours (range: 6 hours-15 days) after ingestion of contaminated food. The disease is characterized by an acute or subacute afebrile symmetrical cranial nerve palsy, followed by symmetrical descending flaccid motor paralysis. Gastrointestinal symptoms of nausea, abdominal pain, vomiting and diarrhea may precede the neurological signs. In the severe forms, paralysis concerns the neck, shoulder, and proximal muscles, followed by involvement of the muscles of the upper distal extremities, the diaphragm and respiratory muscles, which may result in respiratory compromise or arrest. The sensory system and intellectual functions remain unaffected. The rapidity of onset and severity of the illness depend on the amount and type of BoNTs ingested.
## Etiology
The disease is caused by consumption of home-preserved foods (homemade or traditional canned-foods, ham, pork products, vegetables, etc.) contaminated by BoNT-producing Clostridia. Contamination results from the growth and toxin production in foods presenting an anaerobic medium, a pH of ≥4.5, low salt and sugar content, and stored at ≥ 3°C. Of the seven types of BoNTs (A-G), types A, B, E and, more rarely F, are associated with foodborne botulism. Microorganisms involved are Clostridium botulinum or, very rarely neurotoxigenic strains of C. butyricum and C. baratii. Ingested and absorbed BoNTs diffuse via the blood and lymphatic system to reach the neuromuscular junctions.
## Diagnostic methods
Diagnosis is essentially clinical in the first stage, based on clinical suspicion together with a 2-5 day food history obtained from the patient. Ingestion of a suspected food, absence of fever, and possible gastrointestinal symptoms are considered typical of foodborne botulism. Confirmation is based on BoNT detection in serum, stools, vomit, gastric aspirate, and suspected food samples. The detection of BoNT-producing Clostridia in stool cultures of a patient presenting typical symptomatology is generally satisfactory for laboratory diagnosis.
## Differential diagnosis
Differential diagnosis of foodborne botulism includes myasthenia gravis, Guillain-Barré and Miller-Fisher syndromes, Lambert-Eaton syndrome and, in addition, intestinal and wound botulism (see these terms).
## Management and treatment
Antitoxin therapy is effective when it is administrated at the onset of symptoms. The antitoxin therapy must be associated with supportive care in an intensive care unit (ICU). In Europe, the formulation currently available for adults is trivalent (anti A, B, E). A heptavalent (anti A to G) product is also available. In the USA, a bivalent (anti A, B) and a monovalent (anti E) antitoxin are available. Prevention is based on following good practice guidelines for the preparation and storage of foods with the aim of destroying spores, preventing spore germination and/or toxin production. Prompt notification to the public health authorities of suspected cases may prevent further consumption of a contaminated home-preserved or commercial food product.
## Prognosis
Foodborne botulism carries an overall worldwide mortality rate of 5-10% (in the USA 3-5%). Prognosis varies according to the amount of ingested toxin and the rapidity of medical assistance. With early, appropriate treatment, the prognosis is generally good and no long-term complications are observed. Complications may occur during hospitalization, including nosocomial adverse events and respiratory failure.
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: Dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: Luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone-binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
*[FSH]: Follicle-stimulating hormone
*[HHAT]: hedgehog acyltransferase
*[Hh]: Hedgehog
*[ABS]: amniotic band syndrome
| Foodborne botulism | c1739094 | 30,287 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=228371 | 2021-01-23T18:11:15 | {"mesh": ["D001906"], "umls": ["C1739094"], "icd-10": ["A05.1"], "synonyms": ["Intoxication botulism"]} |
A number sign (#) is used with this entry because of evidence that Pelger-Huet anomaly (PHA) can be caused by heterozygous mutation in the gene encoding the lamin B receptor (LBR; 600024) on chromosome 1q42.
Homozygous mutation in the LBR gene can cause PHA with mild skeletal anomalies (PHASK; 618019) or Greenberg dysplasia (GRBGD; 215140).
Clinical Features
Pelger-Huet anomaly is an autosomal dominant disorder characterized by hypolobulated neutrophil nuclei with coarse chromatin (Hoffmann et al., 2002). The nucleus of the granulocytes has been described as hyposegmented, being rodlike, dumbbell- or peanut-shaped, or spectaclelike.
Rioux et al. (1968) reported an extensively affected French-Canadian kindred with PHA. The nuclei of leukocytes had a pince-nez appearance.
Oneson et al. (1987) described a child with familial Pelger-Huet anomaly who developed acute lymphoblastic leukemia. The disorder is effectively detected by the average lobe index (ALI) of the neutrophils. The ALI is the total number of nuclear lobes in 100 neutrophils divided by 100. The normal range for ALI is 2.5 to 3.1 (mean, 2.8). ALI in the affected nonleukemic members of this family varied from 1.12 to 1.60, with the lowest values in children and the highest values in adults. That folate deficiency increases segmentation was indicated by the fact that the ALI of the proband increased during 6-mercaptopurine and methotrexate therapy. Elevation of temperature to 42 degrees C resulted in an increase in the ALI of both normal cells and cells with the Pelger-Huet anomaly.
Population Genetics
In Spokane, Washington, Ludden and Harvey (1962) found 4 cases of PHA among 43,000 persons. Affected persons were of German or Dutch descent. In Cleveland, Skendzel and Hoffman (1962) found a frequency of 1 in 4,785 routine smears. All figures in this country and also that of Davidson in England (1 in 6,000) are lower than that of Nachtsheim (1 in 1,020).
The frequency of PHA is estimated to be 0.01-0.1% (Skendzel and Hoffman, 1962), but the frequency is much higher in Vasterbotten County in northern Sweden (0.6%) and in the mountain village of Gelenau in southeastern Germany (1.01%), according to Hoffmann et al. (2002), who did positional cloning studies in families from the latter region.
Mapping
By genomewide linkage scan, Hoffmann et al. (2002) mapped the PHA locus to 1q41-q43, the region that contains the lamin B receptor gene (LBR; 600024).
Molecular Genetics
To identify the genetic cause of PHA, Hoffmann et al. (2002) studied 11 families from Gelenau with 18 unaffected and 29 affected members, including a presumed homozygous individual. In contrast to the neutrophils of healthy subjects, all neutrophils of individuals of PHA had bilobed or rod-like nuclei. The presumed homozygous individual had neutrophils with round, nonsegmented nuclei and presented with mental retardation, disproportionate body habitus, macrocephalus with prominent forehead, ventricular septal defect, and short metacarpals in several fingers. Hoffmann et al. (2002) identified a founder haplotype in 10 of the 11 families. The affected members of these 10 families carried the same mutation, a 6-bp deletion in the 3-prime splice site region of intron 12 of the LBR gene (600024.0001). In the affected individual in the eleventh family, a different splice acceptor site mutation was found, in intron 2 of LBR (600024.0002). Six further mutations in LBR were found in individuals from Spain, the United States, and Mexico. Only splice site, frameshift, and nonsense mutations were found.
Biochemical Features
Hoffmann et al. (2002) found that the expression of the lamin B receptor affected neutrophil nuclear shape and chromatin distribution in a dose-dependent manner. Hoffmann et al. (2002) stated that their findings have implications for understanding the interactions between the nuclear envelope and heterochromatin, the pathogenesis of Pelger-like conditions in leukemia (Sainty et al., 2000), infection (Shenkenberg et al., 1982), and toxic drug reactions (Juneja et al., 1996), as well as the evolution of neutrophil nuclear shape.
Animal Model
Hoffmann et al. (2002) stated that Pelger-Huet anomaly was first described in rabbits. Homozygous rabbits show severe chondrodystrophy (Nachtsheim, 1950).
In 2 independent mouse strains with the blood phenotype associated with homozygosity for Pelger-Huet anomaly (Green et al., 1975), Hoffmann et al. (2002) found 1 frameshift and 1 nonsense mutation in Lbr.
Mice with the 'ichthyosis' (ic) phenotype display marked abnormalities in nuclear heterochromatin, similar to those observed in PHA. Shultz et al. (2003) observed that mice homozygous for deleterious mutations at the ic locus present with a blood phenotype similar to PHA and develop other phenotypic abnormalities, including alopecia, variable expression of syndactyly, and hydrocephalus. The ic locus on mouse chromosome 1 shares conserved synteny with the chromosomal location of the human LBR locus on human chromosome 1. Shultz et al. (2003) identified 1 nonsense and 2 frameshift mutations within the Lbr gene of mice homozygous for 1 of 3 independent mutations (ic, icJ, or ic4J, respectively) at the ichthyosis locus. These allelic mutations resulted in a truncated or severely impaired protein. Tissues from mice homozygous for the icJ mutation revealed a complete loss of Lbr protein, as shown by immunofluorescence microscopy and immunoblotting.
INHERITANCE \- Autosomal dominant HEAD & NECK Head \- Macrocephaly (homozygote) Face \- Prominent forehead (homozygote) CARDIOVASCULAR Heart \- Ventricular septal defect (homozygote) SKELETAL Hands \- Polydactyly (homozygote) \- Short metacarpals (homozygote) NEUROLOGIC Central Nervous System \- Developmental delay (homozygote) \- Seizure disorder (homozygote) HEMATOLOGY \- Hypolobulated (bilobed or rod-like) granulocyte nuclei (heterozygote) \- Ovoid granulocyte nuclei (homozygote) \- Coarse granulocyte chromatin MISCELLANEOUS \- Allelic to hydropic and prenatally lethal chondrodystrophy ( 215140 ) \- Increased frequency in Vastebotten County in Northern Sweden and Gelenau in southeastern Germany MOLECULAR BASIS \- Caused by mutations in the lamin B receptor gene (LBR, 600024.0001 ) ▲ Close
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: Dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: Luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone-binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
*[FSH]: Follicle-stimulating hormone
*[HHAT]: hedgehog acyltransferase
*[Hh]: Hedgehog
*[ABS]: amniotic band syndrome
| PELGER-HUET ANOMALY | c0030779 | 30,288 | omim | https://www.omim.org/entry/169400 | 2019-09-22T16:36:30 | {"doid": ["9631"], "mesh": ["D010381"], "omim": ["169400"]} |
This article has multiple issues. Please help improve it or discuss these issues on the talk page. (Learn how and when to remove these template messages)
This article needs more medical references for verification or relies too heavily on primary sources. Please review the contents of the article and add the appropriate references if you can. Unsourced or poorly sourced material may be challenged and removed.
Find sources: "Digital phobic" – news · newspapers · books · scholar · JSTOR (February 2015)
This article's use of external links may not follow Wikipedia's policies or guidelines. Please improve this article by removing excessive or inappropriate external links, and converting useful links where appropriate into footnote references. (February 2015) (Learn how and when to remove this template message)
The topic of this article may not meet Wikipedia's notability guideline for neologisms. Please help to demonstrate the notability of the topic by citing reliable secondary sources that are independent of the topic and provide significant coverage of it beyond a mere trivial mention. If notability cannot be shown, the article is likely to be merged, redirected, or deleted.
Find sources: "Digital phobic" – news · newspapers · books · scholar · JSTOR (February 2015) (Learn how and when to remove this template message)
(Learn how and when to remove this template message)
Digital phobic is an informal phrase used to describe a reluctance to become fully immersed in the digital age for being fearful of how it might negatively change or alter everyday life.
The fast-paced development of the digital world in the twenty-first century has contributed to the digital divide becoming a very real problem for a segment of the population for whom a lack of education of, interest in, or access to digital devices has left them excluded from the technological world and fearful of its growing omnipresence.
Digital phobic is part of a growing dictionary of digital vocabulary exploring the social impact of the technological age. The phrase considers the fears associated with technological evolution and change, and acknowledges the possibility of exclusion as a result of a rising reliance on technology in day-to-day life.
## Contents
* 1 Discourse
* 2 Origins
* 3 Social and cultural impact
* 4 Education
* 5 See also
* 6 Notes
* 7 References
## Discourse[edit]
Everyday use of technology has increased dramatically since the turn of the century, significantly impacting both those embracing technological change as well as those reluctant to be a part of it.
A sharp rise in technological innovations during the 21st century has been responsible for changing much of the way we work, socialize, and learn – all of which can be at the foundation of distrust in the technological age. Psychologists, academics and researchers have begun to consider the base of these fears and consider the social, cultural and environmental circumstances which might catalyze someone to becoming 'digital phobic'.
Technophobia is used to discuss a fear of advanced technology in a formal capacity and can stem from a number, and combination of, concerns. With the oncoming of the digital age, worries have broadened from the very earliest fears that technology would eradicate artisanship to concerns over data protection, financial security, identity theft, technical inability and invasion of privacy.
There is no exhaustible list of reasons cited for fearing the digital world and, whilst research into both the cause and consequence of developing a digital phobia remains in its infancy, the presence of digital phobia regardless contributes towards an increasingly comprehensive picture of a series of profiles among digital users.
Recent research from Foresters, an international financial services organization, found 2% of the UK population to fall into this category of internet user.[1] A further breakdown of this statistic, sees the percentage of users in development of a digital phobia increase, with 4% fearful of online shopping for worrying that someone will steal their card details, and 12% fearful that using social media will make it easier for people to find their personal details.
When asked to reason their attitude towards technology as part of this survey, a larger percentage of the UK population were revealed to be fearful of the impact it could be having on more traditional means of doing things. 31% believed technology was preventing us from communicating properly, while 32% thought advances in technology will result in long-held traditions being lost.
This fear has only been exacerbated over time as more and more data-holding, services and opportunities are transferred to the digital realm, and both the perceived and real nature of security and vulnerability risks increases. Worrying levels of time spent on devices, the invasion of privacy or the possible misuse or abuse of personal data entrusted to online sources are all contributing towards the development of a digital phobia among a proportion of the population.
Concerns about the negative, exclusionary or divisive consequences of living within a digital society are being voiced from various global platforms. April 2014 research conducted by Pew Research Center, in association with Smithsonian Magazine, revealed concerns about anticipated technological developments over the next half-century. 30% of Americans surveyed feared that technological changes would lead to a future in which people are worse off than they are at the time of being surveyed.[2] Considered amid reports of dis-interest in the internet among Japan's residents despite its reputation as a high-tech nation, these reports contribute towards a growing understanding that high-tech advancements are not universally celebrated.[3] Moreover, the May 2014 "right to be forgotten" ruling put in place in the European Union which allows internet users to request for their internet history to be un-searchable if deemed incorrect, outdated or irrelevant, and the thousands of requests received in the first few days following its announcement documents a, perhaps previously hidden, widespread fear of leaving a digital footprint and/or being falsely represented online.[4]
## Origins[edit]
Digital phobia is part of a wider societal conversation on how we relate to, trust in, and interact with technology and considers the potentially negative implications of what otherwise appears to be a positive advancement of the modern world.
This phrase has been developed by Foresters, the international financial services organisation, for the purpose of describing attitudes to technology among the UK population.
Developed within a digital vocabulary consisting of four other phrases (digital addict, digital omnivore, digital agnostic, digital denier), digital phobic is part of a scale of social description for online behavior within the digital age.
The phrase has been used as part of discussion on the more general use of technology within the 21st century and the importance of striking a balance between time spent on and offline. Research conducted by Foresters in association with Tech Timeout,[5] a social communications initiative considering the role of technology in contemporary society, formed the basis of the descriptor and identified the key traits of each type of digital user based on answers from over 1,000 UK respondents.
Both anecdotal and research-based evidence suggests categories of internet use, whilst they cannot be linearly divided, are able to loosely describe attitudes to technology in society. The developed phrases are able to be used to greater understand and contextualize how new and existing technology is viewed and have been cited in international online newspapers and blog posts.[6]
Whilst this phrase and definition were developed specifically from research on UK technology-users, the phrase is not UK-specific and is designed to be indicative of a global community of technology users who share in these characteristics.
## Social and cultural impact[edit]
Digital phobia presents a real and pressing problem in the modern world where technology has become a central and essential resource. Internet culture has developed to become a part of the fabric of everyday life and is now even considered part of the make-up of national identity with a country's internet use and digital footprint an important modern index for international comparison, often associated with development and modernity.
The consequences of non-participation in the digital world are far reaching, and can affect the economic, cultural, social, occupational and educational life of a non-user. For example, in 2009 Price Waterhouse Coopers estimated that UK households offline are missing out on savings of £560 a year which could be saved if shopping or paying for bills online.[7] Furthermore, in the United States older people without internet access or the skills to make the most of it are considered a disadvantaged proportion of the population as, amongst other important resources, vital healthcare information and initiatives conducted online are unavailable to those not a part of the digital world.[8]
Heightened fears of how technology may be affecting the human population stems from a, for some very logical, fear of how technology is adapting the world we live in and at the pace and price with which it is doing so. With such a significance placed on online participation, concerns about the role of the internet in everyday life are not unfounded and not exclusive to those who prefer to stay away from the internet, avoid certain activities online, or use the internet without enthusiasm and only as necessitated.
A survey conducted by security firm Avira identified 84% of people fear social networking sites will steal or misuse their personal information,[9] demonstrating the net majority of internet users share, at least partially, in distrusting the digital world. Whilst many will, despite this fear, adopt cautious optimism and still use social networking as part of their everyday lives this high percentage serves to demonstrate that a fear significant enough for some to avoid readily using online and digital services is a fear shared by a large number of internet users.
Whilst some digital phobics have preferred to remain distanced from technology due to hypothetical concerns others have attempted to join in societal interest but find themselves unable to stay caught up with new technology or would like to see its progression halted as evolution of the digital world has reached new speeds. The 2013 Oxford Internet Survey[10] recognizes this concern among UK users, identifying distinct categories of both non-users and ex-users of internet-based technology who, for a variety of reasons, have discontinued or refuse to access the online world. This is further supported by results from a 2013 survey of internet use in America[11] which found 32% of non-internet users avoiding the online world because of finding the internet difficult or frustrating to use, being physically unable or worried about other issues such as viruses, threat of hacking or spam – a figure considerably higher than in earlier years.
Concern over the presence of a digital divide, whether locally or globally, is only exacerbated by the knowledge that access to many government and council services, job applications, and social and cultural resources are now largely internet based. Internet access has become a hurdle in contemporary society which, for those without the necessary desire to learn or knowledge of internet-based systems, can be difficult to navigate around, often resulting in key services and vital resources being less easily accessible, leaving non-users feeling isolated. Private and government campaigns to tackle this issue further demonstrate the severity and long-lasting impact of having a proportion of the population disinclined or disinterested in going online.[12][13]
As the online world becomes saturated, device options for connecting to the internet vary and news of technological inventions goes viral the exponential growth of the technological world is only contributing towards a growing number of 'digital phobic' tech-users amongst the global population.
## Education[edit]
Digital phobia has had a negative impact on the field of education. Some teachers have expressed a fear that new and advanced technology is supplanting them as the masters of their fields of study and a study of teachers in Wilmington, Delaware has shown that educators in this area are acclimating to the new technology in their classrooms at a slower pace.[14] The local researchers believe that there are many factors why that is the case and some of the things they have found are things such as a lack of technological education by the teachers, and also the lack of time, or incentive to adjust to the new technology. University Larry Cuban has stated that "The introduction of computers into school was supposed to improve academic achievement , and alter how teachers taught. Neither has occurred."[15]
The constant infusion of new technology has many teachers fearing that they are losing their classroom. This new technology is essentially diminishing the role of a teacher in the classroom.
Researchers believe that educators are slow to adapt to technology because they aren't given time to acclimate to the new technology, causing them to hesitate to use it in the classroom and express fear that these technologies may interfere with genuine learning particularly in humanities and creative subjects.[16] In an article for the New Media Reader, Theodor H. Nelson wrote that people are opposed to the computer because they believe it is "cold" and "inhuman", but a human can be just as inhuman and maybe even more so than the actual machine itself.[17]
## See also[edit]
* Digital Age
* Digital detox
* Digital divide
* Digital native
* Internet addiction disorder
## Notes[edit]
1. ^ Paul Gallagher. Digital Addict – or just checking your Facebook page? A quarter of all men and women spend an 'unhealthy amount of time online'. The Independent. 8 June 2014. Accessed: 27 August 2014.
2. ^ Smith, Aaron (17 April 2014). "Future of Technology - Pew Research Center". Pew Research Center: Internet, Science & Tech. Retrieved August 23, 2014.
3. ^ Michael Fitzpatrick. Revealing Japan's Low Tech Belly. BBC News. 13 July 2010. Accessed: 20 August 2014.
4. ^ Charles Arthur (27 June 2014). "Google removing 'right to be forgotten' search links in Europe". The Guardian. Retrieved 27 August 2014.
5. ^ "Tech Timeout". Retrieved October 12, 2015.
6. ^ "Digital addict - spending an 'unhealthy' amount of time online". The New Zealand Herald. June 8, 2014. Retrieved August 27, 2014.
7. ^ "Champion for Digital Inclusion: The Economic Case for Digital Inclusion" (PDF). Pricewaterhouse Coopers LLP. October 2009. Archived from the original (PDF) on March 29, 2012. Retrieved August 27, 2014.
8. ^ Roberts, Kaitlin (May 30, 2014). "How the digital divide hurts the elderly in times of crisis". theweek.com. Retrieved June 25, 2014.
9. ^ Liebowitz, Matt (February 5, 2012). "84% of People Fear Social Media". msnbc.com. Retrieved June 25, 2014.
10. ^ Dutton, William H.; Blank, Grant. "Cultures of the Internet: The Internet in Britain" (PDF). The Oxford Internet Survey 2013. Archived from the original (PDF) on June 2, 2014. Retrieved June 24, 2014.
11. ^ Zickuhr, Kathryn (25 September 2013). "Who's Not Online and Why". Pew Research Center: Internet, Science & Tech. Retrieved August 27, 2013.
12. ^ Hirschkon, Jenny (June 12, 2014). "Connecting the elderly with internet know-how". Telegraph.co.uk. Retrieved June 25, 2014.
13. ^ Settle, Kathy (April 14, 2014). "Digital Inclusion Strategy launches today". blog.gov.uk. Retrieved June 24, 2015.
14. ^ "Why Ed Tech Is Not Transforming How Teachers Teach". Education Week. Retrieved 2017-12-09.
15. ^ "Why Ed Tech Is Not Transforming How Teachers Teach". Education Week. Retrieved 2017-12-06.
16. ^ Curtis, Polly; correspondent, education (2005-09-13). "Report reveals teachers' fear of classroom technology". The Guardian. ISSN 0261-3077. Retrieved 2017-12-06.
17. ^ The NewMediaReader. Wardrip-Fruin, Noah., Montfort, Nick. Cambridge, Mass.: MIT Press. 2003. ISBN 9780262232272. OCLC 50096832.CS1 maint: others (link)
## References[edit]
* Browne, Clayton. "Americans both fear and embrace technology" Value Walk. 17 April 2014. Accessed: 23 June 2014.
* Green, Marcus and Phill Rossall. "Age UK Digital Inclusion Evidence Report 2013" Age UK. 2013. Accessed: 27 August 2014.
* Groselj, Darja "Internet users are very positive about tech; non-users are generally doubtful and fearful." Oxford Internet Surveys. 3 September 2013. Accessed: 26 August 2014.
* Gurney-Read, Josie. "Digitally inclusive campaign launches today" The Telegraph. 14 January 2014. Accessed: 27 August 2014.
* Gurney-Read, Josie. Fear of technology may hold back change in education, says Lord Puttman. The Telegraph. 4 February 2014. Accessed: 27 August 2014.
* Houghton, Stuart. "The Internet of Things is nothing to fear" Tech Radar. 8 February 2014. Accessed: 25 June 2014.
* Ragnedda, Massimo and Glenn W. Muschert ed. "The Digital Divide. The Internet and Social Inequality in International Perspective." Routledge. June 2013.
* Smith, Gerry. "Without internet, urban poor fear being left behind in digital age" Huffington Post. 1 March 2012. Accessed: 27 August 2014
* Soloman, Emma. Why it's important to get older people and carers confident online. The Guardian. 22 April 2013. Accessed: 27 August 2014.
* Sullivan, Bob. "Online privacy fears are real." NBC News. 6 December 2013. Accessed: 27 August 2014.
* Wakefield, Jane. *"Old meets new in digital divide" BBC News. 15 October 2010. Accessed: 27 August 2014.
* "Truly a World Wide Web" Pew Research: Global Attitudes Project. 21 February 2006. Accessed: 25 June 2014.
* "How tech savvy are you? Fear of technology affects more people than Aracnophobia" Mirror. 11 July 2013. Accessed: 27 August 2014.
* Herold, Benjamin. “Why Ed Tech Is Not Transforming How Teachers Teach.” Education Week, 31 Aug. 2017. Accessed: 1 December 2017
* Curtis, Polly. “Report Reveals Teachers' Fear of Classroom Technology.” The Guardian, Guardian News and Media, 13 Sept. 2005. Accessed 1 December 2017
* MindShift. “Does Our Current Education System Support Innovation?” MindShift, 17 July 2012. Accessed 2 December 2017
* Carey, Jennifer. “How to Get Hesitant Teachers to Use Technology.” Powerful Learning Practice, 27 Mar. 2013. Accessed 2 December 2017
* Wardrip-Fruin, Noah, and Nick Montfort. “No More Teachers' Dirty Looks.” The NewMediaReader, MIT Press, 2003, pp. 309–310.
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: Dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: Luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone-binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
*[FSH]: Follicle-stimulating hormone
*[HHAT]: hedgehog acyltransferase
*[Hh]: Hedgehog
*[ABS]: amniotic band syndrome
| Digital phobic | None | 30,289 | wikipedia | https://en.wikipedia.org/wiki/Digital_phobic | 2021-01-18T19:10:34 | {"wikidata": ["Q18206542"]} |
A number sign (#) is used with this entry because of evidence that retinitis pigmentosa and erythrocytic microcytosis (RPEM) is caused by compound heterozygous mutation in the TRNT1 gene (612907) on chromosome 3p26.
Mutation in the TRNT1 gene also causes a more severe syndrome, consisting of sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay (SIFD; 616084). Some patients with SIFD have retinitis pigmentosa.
Clinical Features
DeLuca et al. (2016) studied a 19-year-old man who presented after routine eye examination with pigmentary changes in the retina. He had first noted nyctalopia at age 16, when he began driving. Funduscopy revealed bilateral mild arteriolar attenuation and scant bone spicule-like pigmentary changes in the periphery of the retina, and optical coherence tomography (OCT) showed diffuse outer retinal atrophy with foveal preservation. Hematologic evaluation revealed low normal hemoglobin and hematocrit, with abnormally small red blood cells (RBCs) and significant anisocytosis. Peripheral blood smear showed microcytosis, hypochromia, anisocytosis, and poikilocytosis with numerous elliptocytes. Past medical history was significant for juvenile rheumatoid arthritis involving the hip and neck that started in the first year of life; he also experienced bouts of high fever that occurred 2 to 3 times per year. After a 3-year treatment with methotrexate, he had not had a recurrence of the fevers or arthritis for over a decade. DeLuca et al. (2016) also studied 2 similarly affected brothers. The older brother presented at age 21 with a history of poor night vision since childhood. Funduscopy showed mild optic disc pallor, significant macular edema, mild attenuation of retinal arterioles, and diffuse atrophy of the peripheral retinal pigment epithelium; visual field testing showed mild generalized depression bilaterally. OCT revealed significant intraretinal cystoid changes and diffuse outer retinal atrophy with extrafoveal preservation. On CBC he had a near-normal hemoglobin and low-normal hematocrit, with microcytosis and anisocytosis. The younger brother presented at age 18 years, with nyctalopia since age 13 years. Funduscopy, visual fields, OCT, and CBC findings were similar to those of his brother; electroretinography (ERG) showed absent scotopic responses and severely diminished photopic responses bilaterally. The brothers had no history of arthritis or unusual febrile illnesses, and none of the 3 patients had developmental delay, deafness, ataxia, seizures, or cardiac disease.
Molecular Genetics
In a 19-year-old man with retinitis pigmentosa and RBC microcytosis, DeLuca et al. (2016) performed exome sequencing and identified compound heterozygosity for 2 mutations in the TRNT1 gene, a 1-bp deletion (1246delA; 612907.0007) and a 3-bp in-frame deletion (E43del; 612907.0008). His unaffected parents were each heterozygous for 1 of the mutations. Analysis of TRNT1 in 1,729 patients with RP who were negative for mutation in known RP-associated genes revealed 2 brothers, similarly affected with RP and RBC microcytosis, who were compound heterozygous for a 1-bp insertion (1246insA; 612907.0009) and a splice site mutation (612907.0010). Whole-exome sequencing in 195 additional patients with RP did not reveal any other disease-causing mutations. Western blot analysis of protein extracted from patient fibroblasts showed significantly decreased levels of TRNT1 protein compared to controls, although the authors noted that the protein level was not as diminished as in published cases of SIFD (616084), consistent with the milder phenotype in their patients. Suppression of trnt1 expression in zebrafish recapitulated several features of human SIFD; however, when levels of trnt1 were titrated, visual dysfunction was observed in the absence of other phenotypes. DeLuca et al. (2016) concluded that hypomorphic TRNT1 mutations can cause a recessive disease that is almost entirely limited to the retina.
INHERITANCE \- Autosomal recessive HEAD & NECK Eyes \- Mild optic disc pallor \- Significant macular edema (in some patients) \- Mild arteriolar attenuation \- Diffuse atrophy of peripheral retinal pigment epithelium \- Scant bone spicule-like pigmentary changes in periphery (in 1 patient) \- Generalized depression of visual fields, mild \- Partial ring scotoma (in 1 patient) \- Absent scotopic responses on electroretinography (ERG) \- Severely diminished photopic responses on ERG \- Significant intraretinal cystoid changes on optical coherence tomography (OCT, in some patients) \- Diffuse outer retinal atrophy on OCT \- Foveal preservation on OCT (in some patients) \- Extrafoveal preservation on OCT HEMATOLOGY \- Near- to low-normal hemoglobin \- Near- to low-normal hematocrit \- Microcytosis \- Anisocytosis \- Poikilocytosis \- Elliptocytosis MISCELLANEOUS \- Based on report of 3 patients (last curated May 2016) \- One patient had rheumatoid arthritis and recurrent fevers in childhood MOLECULAR BASIS \- Caused by mutation in the CCA-adding tRNA nucleotidyltransferase-1 gene (TRNT1, 612907.0007 ) ▲ Close
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: Dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: Luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone-binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
*[FSH]: Follicle-stimulating hormone
*[HHAT]: hedgehog acyltransferase
*[Hh]: Hedgehog
*[ABS]: amniotic band syndrome
| RETINITIS PIGMENTOSA AND ERYTHROCYTIC MICROCYTOSIS | c4310776 | 30,290 | omim | https://www.omim.org/entry/616959 | 2019-09-22T15:47:26 | {"omim": ["616959"]} |
Langer mesomelic dysplasia is a disorder of bone growth. Affected individuals typically have extreme shortening of the long bones in the arms and legs (mesomelia). As a result of the shortened leg bones, people with Langer mesomelic dysplasia have very short stature. A bone in the forearm called the ulna and a bone in the lower leg called the fibula are often underdeveloped or absent, while other bones in the forearm (the radius) and lower leg (the tibia) are unusually short, thick, and curved. Some people with Langer mesomelic dysplasia also have an abnormality of the wrist and forearm bones called Madelung deformity, which may cause pain and limit wrist movement. Additionally, some affected individuals have mild underdevelopment of the lower jaw bone (mandible).
## Frequency
The prevalence of Langer mesomelic dysplasia is unknown, although the condition appears to be rare. Several dozen affected individuals have been reported in the scientific literature.
## Causes
Langer mesomelic dysplasia results from changes involving the SHOX gene. The protein produced from this gene plays a role in bone development and is particularly important for the growth and maturation of bones in the arms and legs. The most common cause of Langer mesomelic dysplasia is a deletion of the entire SHOX gene. Other genetic changes that can cause the disorder include mutations in the SHOX gene or deletions of nearby genetic material that normally helps regulate the gene's activity. These changes greatly reduce or eliminate the amount of SHOX protein that is produced. A lack of this protein disrupts normal bone development and growth, which underlies the severe skeletal abnormalities associated with Langer mesomelic dysplasia.
### Learn more about the gene associated with Langer mesomelic dysplasia
* SHOX
## Inheritance Pattern
Langer mesomelic dysplasia has a pseudoautosomal recessive pattern of inheritance. The SHOX gene is located on both the X and Y chromosomes (sex chromosomes) in an area known as the pseudoautosomal region. Although many genes are unique to either the X or Y chromosome, genes in the pseudoautosomal region are present on both sex chromosomes. As a result, both females (who have two X chromosomes) and males (who have one X and one Y chromosome) normally have two functional copies of the SHOX gene in each cell. The inheritance pattern of Langer mesomelic dysplasia is described as recessive because both copies of the SHOX gene in each cell must be missing or altered to cause the disorder. In females, the condition results when the gene is missing or altered on both copies of the X chromosome; in males, it results when the gene is missing or altered on the X chromosome and the Y chromosome.
A related skeletal disorder called Léri-Weill dyschondrosteosis occurs when one copy of the SHOX gene is mutated in each cell. This disorder has signs and symptoms that are similar to, but typically less severe than, those of Langer mesomelic dysplasia.
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: Dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: Luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone-binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
*[FSH]: Follicle-stimulating hormone
*[HHAT]: hedgehog acyltransferase
*[Hh]: Hedgehog
*[ABS]: amniotic band syndrome
| Langer mesomelic dysplasia | c0432230 | 30,291 | medlineplus | https://medlineplus.gov/genetics/condition/langer-mesomelic-dysplasia/ | 2021-01-27T08:25:09 | {"gard": ["3553"], "mesh": ["C537267"], "omim": ["249700"], "synonyms": []} |
A number sign (#) is used with this entry because of evidence that multiple self-healing palmoplantar carcinoma (MSPC) is caused by heterozygous mutation in the NLRP1 gene (606636) on chromosome 17p13.
Description
Multiple self-healing palmoplantar carcinoma (MSPC) is characterized by recurrent keratoacanthomas in palmoplantar skin as well as in conjunctival and corneal epithelia. In addition, patients experience a high susceptibility to malignant squamous cell carcinoma (summary by Zhong et al., 2016).
Clinical Features
Soler et al. (2013) described a Caucasian French mother and son who had corneal intraepithelial dyskeratosis and palmoplantar hyperkeratosis. At 27 years of age, the mother presented with unilateral keratopathy with neovascularization and complete corneal opacification. In addition, she had palmoplantar hyperkeratosis, dyshidrosis, and maxillary decalcification with alveolysis and tooth loss. Her son presented at age 2 years with corneal dyskeratosis characterized by bilateral inferior corneolimbal infiltrates, limbal thickening, neovascularization, and keratin deposits. Despite topical corticosteroid therapy, he developed bilateral centripetal evolution of the infiltrates resulting in bilateral vision impairment that required multiple surgical interventions. He also had pruritic hyperkeratotic scars, palmoplantar hyperkeratosis, chronic rhinitis, and a raspy voice. His nails were dystrophic with prominent thickening of the nail beds, and he exhibited dysmorphism, with long philtrum, short neck, and bulging chest, and also had finger joint hypermobility. Histopathologic findings of the son's excised cornea showed acanthosis, parakeratosis, and dyskeratotic keratinization involving most of the corneal epithelium except the basal layers, with absence of the Bowman layer and presence of a stromal inflammatory infiltrate. A vocal cord biopsy showed similar features, including epithelial hyperplasia with dyskeratosis and parakeratosis. His maternal grandparents were unaffected, and he had an unaffected brother. Soler et al. (2013) stated that the histopathologic findings were consistent with those reported in hereditary benign intraepithelial dyskeratosis (HBID; 127600).
Mamai et al. (2015) reported a large 5-generation Tunisian family segregating autosomal dominant palmoplantar keratoacanthoma. The development of skin lesions began with the progressive appearance of multiple ulcerative/nodular tumors on plantar skin. The average age of onset was 8.8 years for the 15 affected family members studied, with a range from 1 year to 25 years of age. The palmoplantar tumors, which were 5 to 15 mm in diameter and 8 to 12 in number, grew over a period of 3 months and regressed spontaneously after 6 months, leaving atrophic scars consistent with keratoacanthoma. Histologic examination of a primary plantar lesion showed massive epidermal hyperkeratosis overlying an endophytic squamoproliferative tumor with prominent keratin cyst formation and crypt abscesses and a dense stromal inflammatory infiltrate at the base. Mamai et al. (2015) noted that the granular layer, normally prominent in the palmoplantar epidermis, was nearly absent. They also stated that the histologic findings were suggestive of verrucous carcinoma, a form of low-grade squamous cell carcinoma (SCC). In addition to palmoplantar tumors, 80% of the studied family members also developed conjunctival lesions, which appeared in the second decade of life. All were surgically removed, and histologic examination showed squamous epithelial lobules with a dyskeratotic center, suggestive of conjunctival keratoacanthoma. Despite the use of retinoids to halt the progression of palmoplantar tumors, 5 (33%) of 15 patients with available medical records had developed malignant tumors, including tumors in the lungs, head and neck, SCC on the nose, and SCC with bone metastases. The authors designated this disorder 'multiple self-healing palmoplantar carcinoma (MSPC).'
Zhong et al. (2016) restudied the families reported by Soler et al. (2013) and Mamai et al. (2015) and concluded that both families had MSPC. Zhong et al. (2016) stated that in addition to characteristic palmoplantar keratoacanthomas, a subset of patients with MSPC displayed irregular and thickened nails and hyperkeratosis pilaris.
Zhong et al. (2016) reported a consanguineous family in which a sister and brother had clinical features of MSPC as well as multiple discrete and semiconfluent lichenoid papules on the arms, legs, and lower trunk. Both parents also displayed noticeable but less severe skin phenotypes, including plantar keratosis, follicular hyperkeratosis, and macular amyloidosis. The authors diagnosed these patients with familial keratosis lichenoides chronica (Nekam disease).
Inheritance
The transmission pattern of MSPC in the families reported by Soler et al. (2013) and Mamai et al. (2015) was consistent with autosomal dominant inheritance.
Mapping
Using DNA from 11 affected and 5 unaffected members of a large 5-generation Tunisian family segregating autosomal dominant palmoplantar keratoacanthoma, Mamai et al. (2015) performed SNP genotyping and identity-by-descent mapping. A single 11.4-Mb region on chromosome 17p13.3-p12, between SNPs rs8065368 and rs2322788, was shared by all affected individuals and none of the unaffected family members. Parametric and nonparametric linkage analysis yielded maximum lod scores of 1.69 and 4.21, respectively.
Molecular Genetics
In an affected mother and son from a Caucasian French family originally diagnosed with corneal intraepithelial dyskeratosis and ectodermal dysplasia, but later diagnosed with MSPC by Zhong et al. (2016), Soler et al. (2013) excluded duplication at chromosome 4q35. Filtered exome sequencing followed by Sanger sequencing identified a heterozygous missense mutation in the NLRP1 gene (M77T; 606636.0002) that appeared de novo in the mother, segregated with disease in the family, and was not found in 672 controls or in 61 exome-sequenced subjects' DNA.
In a large 5-generation Tunisian family segregating autosomal dominant MSPC, originally studied by Mamai et al. (2015), Zhong et al. (2016) performed whole-exome sequencing and identified a heterozygous missense mutation in exon 1 of the NLRP1 gene (A54T; 606636.0003) that segregated with disease in 16 family members. By Sanger sequencing of NLRP1 exon 1 in another 4-generation kindred with MSPC, Zhong et al. (2016) identified heterozygosity for a different missense mutation (A66V; 606636.0004) that segregated with disease in that family. Both families were negative for mutation in the TGFBR1 gene (190181). The authors noted that 1 member of the Tunisian family was reported to be asymptomatic despite being a carrier of the A54T mutation, suggesting the existence of possible modifier alleles. Functional analysis demonstrated that all 3 MSPC-associated mutations are gain-of-function variants that cause increased inflammasome activation.
In 2 sibs in a consanguineous family with features of MSPC as well as multiple discrete and semiconfluent lichenoid papules, Zhong et al. (2016) identified homozygosity for an in-frame deletion in the NLRP1 gene (606636.0005).
INHERITANCE \- Autosomal dominant HEAD & NECK Face \- Maxillary decalcification (in some patients) \- Long philtrum (in some patients) Ears \- Cholesteatoma of middle ear (in homozygotes) Eyes \- Keratopathy \- Corneal dyskeratosis \- Corneal neovascularization \- Corneal ulcers \- Corneal limbal stem cell deficiency (in homozygotes) \- Macular amyloidosis \- Conjunctival squamous cell carcinoma (in homozygotes) \- Conjunctival keratoacanthomas \- Acanthosis \- Parakeratosis \- Dyskeratotic keratinization \- Bowman membrane absent \- Stromal inflammatory infiltrate Teeth \- Alveolysis leading to tooth loss (in some patients) Neck \- Short neck (in some patients) RESPIRATORY Larynx \- Epithelial dyskeratosis of vocal cords (in some patients) SKELETAL Skull \- Maxillary decalcification (in some patients) Hands \- Finger joint hypermobility (in some patients) SKIN, NAILS, & HAIR Skin \- Palmoplantar keratoderma \- Pruritic hyperkeratotic scars (in some patients) \- Semi-confluent lichenoid papules on arms, legs, and lower trunk (in homozygotes) \- Hyperkeratosis pilaris (in some patients) \- Follicular hyperkeratosis \- Keratoacanthomas, multiple palmoplantar (5-50mm in diameter, 8-12 in number) \- Conjunctival keratoacanthomas (seen in 80% of patients) \- Atrophic scarring Skin Histology \- Colloid bodies (apoptotic keratinocytes) within papillary dermis (in homozygotes) \- Marked epidermal hyperkeratosis \- Acanthosis papillomatosis \- Nearly absent granular layer \- Endophytic squamoproliferative tumor \- Prominent keratin cyst formation \- Prominent crypt abscesses \- Dense stromal inflammatory infiltrate at base \- Focal lichenoid infiltrate \- Squamous epithelial lobules with dyskeratotic center on conjunctiva Nails \- Dystrophic nails (in some patients) \- Prominent thickening of nail beds (in some patients) VOICE \- Raspy voice (in some patients) NEOPLASIA \- Increased risk for malignant tumors \- Malignant lung tumors \- Malignant head and neck tumors \- Squamous cell carcinoma \- Bone metastases from squamous cell carcinoma MISCELLANEOUS \- Onset in first to third decade of life \- Skin lesions begin with a progressive appearance of multiple ulcerative-nodular tumors on plantar skin which grow over 3 months \- Keratoacanthomas occur primarily in areas devoid of hair follicles and may spontaneously regress after 6 months \- Some patients may develop malignant tumors \- Homozygous mutation has been reported in two sibs in one family MOLECULAR BASIS \- Caused by mutation in the pyrin domain-containing-1 of the NLR family gene (NLRP1, 606626.0002 ) ▲ Close
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: Dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: Luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone-binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
*[FSH]: Follicle-stimulating hormone
*[HHAT]: hedgehog acyltransferase
*[Hh]: Hedgehog
*[ABS]: amniotic band syndrome
| PALMOPLANTAR CARCINOMA, MULTIPLE SELF-HEALING | c3808876 | 30,292 | omim | https://www.omim.org/entry/615225 | 2019-09-22T15:52:58 | {"omim": ["615225"], "orphanet": ["352662"], "synonyms": ["Alternative titles", "CORNEAL INTRAEPITHELIAL DYSKERATOSIS AND ECTODERMAL DYSPLASIA, FORMERLY"]} |
Abortion in Chad was prohibited by law prior to December 2016, when the National Assembly of Chad passed an updated penal code decriminalising abortion under limited circumstances. Article 358 of that codestates that abortion is allowed in case of sexual assault, rape, incest or when the pregnancy endangers the mental or physical health or the life of the mother or the fetus. On 8 May 2017, the new penal code was enacted by the President Idriss Deby. It became law on 1 August 2017.[1]
## References[edit]
1. ^ "Tchad Code Pénal 2017 - Loi n°001/PR/2017" (PDF). 2017. Retrieved 2 February 2019.
* v
* t
* e
Abortion in Africa
Sovereign states
* Algeria
* Angola
* Benin
* Botswana
* Burkina Faso
* Burundi
* Cameroon
* Cape Verde (Cabo Verde)
* Central African Republic
* Chad
* Comoros
* Democratic Republic of the Congo
* Republic of the Congo
* Djibouti
* Egypt
* Equatorial Guinea
* Eritrea
* Eswatini (Swaziland)
* Ethiopia
* Gabon
* The Gambia
* Ghana
* Guinea
* Guinea-Bissau
* Ivory Coast (Côte d'Ivoire)
* Kenya
* Lesotho
* Liberia
* Libya
* Madagascar
* Malawi
* Mali
* Mauritania
* Mauritius
* Morocco
* Mozambique
* Namibia
* Niger
* Nigeria
* Rwanda
* São Tomé and Príncipe
* Senegal
* Seychelles
* Sierra Leone
* Somalia
* South Africa
* South Sudan
* Sudan
* Tanzania
* Togo
* Tunisia
* Uganda
* Zambia
* Zimbabwe
States with limited
recognition
* Sahrawi Arab Democratic Republic
* Somaliland
Dependencies and
other territories
* Canary Islands / Ceuta / Melilla (Spain)
* Madeira (Portugal)
* Mayotte / Réunion (France)
* Saint Helena / Ascension Island / Tristan da Cunha (United Kingdom)
* v
* t
* e
Abortion
Main topics
* Definitions
* History
* Methods
* Abortion debate
* Philosophical aspects
* Abortion law
Movements
* Abortion-rights movements
* Anti-abortion movements
Issues
* Abortion and mental health
* Beginning of human personhood
* Beginning of pregnancy controversy
* Abortion-breast cancer hypothesis
* Anti-abortion violence
* Abortion under communism
* Birth control
* Crisis pregnancy center
* Ethical aspects of abortion
* Eugenics
* Fetal rights
* Forced abortion
* Genetics and abortion
* Late-term abortion
* Legalized abortion and crime effect
* Libertarian perspectives on abortion
* Limit of viability
* Malthusianism
* Men's rights
* Minors and abortion
* Natalism
* One-child policy
* Paternal rights and abortion
* Prenatal development
* Reproductive rights
* Self-induced abortion
* Sex-selective abortion
* Sidewalk counseling
* Societal attitudes towards abortion
* Socialism
* Toxic abortion
* Unsafe abortion
* Women's rights
By country
Africa
* Algeria
* Angola
* Benin
* Botswana
* Burkina Faso
* Burundi
* Cameroon
* Cape Verde
* Central African Republic
* Chad
* Egypt
* Ghana
* Kenya
* Namibia
* Nigeria
* South Africa
* Uganda
* Zimbabwe
Asia
* Afghanistan
* Armenia
* Azerbaijan
* Bahrain
* Bangladesh
* Bhutan
* Brunei
* Cambodia
* China
* Cyprus
* East Timor
* Georgia
* India
* Iran
* Israel
* Japan
* Kazakhstan
* South Korea
* Malaysia
* Nepal
* Northern Cyprus
* Philippines
* Qatar
* Saudi Arabia
* Singapore
* Turkey
* United Arab Emirates
* Vietnam
* Yemen
Europe
* Albania
* Andorra
* Austria
* Belarus
* Belgium
* Bosnia and Herzegovina
* Bulgaria
* Croatia
* Czech Republic
* Denmark
* Estonia
* Finland
* France
* Germany
* Greece
* Hungary
* Iceland
* Ireland
* Italy
* Kazakhstan
* Latvia
* Liechtenstein
* Lithuania
* Luxembourg
* Malta
* Moldova
* Monaco
* Montenegro
* Netherlands
* North Macedonia
* Norway
* Poland
* Portugal
* Romania
* Russia
* San Marino
* Serbia
* Slovakia
* Slovenia
* Spain
* Sweden
* Switzerland
* Ukraine
* United Kingdom
North America
* Belize
* Canada
* Costa Rica
* Cuba
* Dominican Republic
* El Salvador
* Guatemala
* Mexico
* Nicaragua
* Panama
* Trinidad and Tobago
* United States
Oceania
* Australia
* Micronesia
* Fiji
* Kiribati
* Marshall Islands
* New Zealand
* Papua New Guinea
* Samoa
* Solomon Islands
* Tonga
* Tuvalu
* Vanuatu
South America
* Argentina
* Bolivia
* Brazil
* Chile
* Colombia
* Ecuador
* Guyana
* Paraguay
* Peru
* Suriname
* Uruguay
* Venezuela
Law
* Case law
* Constitutional law
* History of abortion law
* Laws by country
* Buffer zones
* Conscientious objection
* Fetal protection
* Heartbeat bills
* Informed consent
* Late-term restrictions
* Parental involvement
* Spousal consent
Methods
* Vacuum aspiration
* Dilation and evacuation
* Dilation and curettage
* Intact D&X
* Hysterotomy
* Instillation
* Menstrual extraction
* Abortifacient drugs
* Methotrexate
* Mifepristone
* Misoprostol
* Oxytocin
* Self-induced abortion
* Unsafe abortion
Religion
* Buddhism
* Christianity
* Catholicism
* Hinduism
* Islam
* Judaism
* Scientology
* Category
This abortion-related article is a stub. You can help Wikipedia by expanding it.
* v
* t
* e
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: Dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: Luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone-binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
*[FSH]: Follicle-stimulating hormone
*[HHAT]: hedgehog acyltransferase
*[Hh]: Hedgehog
*[ABS]: amniotic band syndrome
| Abortion in Chad | None | 30,293 | wikipedia | https://en.wikipedia.org/wiki/Abortion_in_Chad | 2021-01-18T18:45:59 | {"wikidata": ["Q42417647"]} |
Acute coronary syndrome
Blockage of a coronary artery
SpecialtyCardiology
Acute coronary syndrome (ACS) is a syndrome (set of signs and symptoms) due to decreased blood flow in the coronary arteries such that part of the heart muscle is unable to function properly or dies.[1] The most common symptom is chest pain, often radiating to the left shoulder[2] or angle of the jaw, crushing, central and associated with nausea and sweating. Many people with acute coronary syndromes present with symptoms other than chest pain, particularly women, older patients, and patients with diabetes mellitus.[3]
Acute coronary syndrome is commonly associated with three clinical manifestations, named according to the appearance of the electrocardiogram (ECG):[4] ST elevation myocardial infarction (STEMI, 30%), non-ST elevation myocardial infarction (NSTEMI, 25%), or unstable angina (38%).[5] There can be some variation as to which forms of myocardial infarction (MI) are classified under acute coronary syndrome.[6]
ACS should be distinguished from stable angina, which develops during physical activity or stress and resolves at rest. In contrast with stable angina, unstable angina occurs suddenly, often at rest or with minimal exertion, or at lesser degrees of exertion than the individual's previous angina ("crescendo angina"). New-onset angina is also considered unstable angina, since it suggests a new problem in a coronary artery.
## Contents
* 1 Signs and symptoms
* 2 Pathophysiology
* 3 Diagnosis
* 3.1 Electrocardiogram
* 3.2 Imaging and blood tests
* 3.3 Prediction scores
* 4 Prevention
* 5 Treatment
* 5.1 STEMI
* 5.2 NSTEMI and NSTE-ACS
* 6 Prognosis
* 6.1 TIMI score
* 6.2 Global Registry of Acute Coronary Events (GRACE) score
* 6.3 Killip class
* 6.4 Biomarkers for diagnosis
* 6.5 Biomarkers for risk determination
* 6.6 Day of admission
* 7 Valvular heart disease
* 7.1 Oral manifestations
* 7.2 Dental management
* 8 Heart failure
* 8.1 Oral manifestations
* 8.2 Dental management
* 9 Arrhythmia
* 9.1 Oral manifestations
* 9.2 Dental management
* 10 See also
* 11 References
* 12 External links
## Signs and symptoms[edit]
The cardinal symptom of critically decreased blood flow to the heart is chest pain, experienced as tightness around or over the chest and (often, but not always) radiating to the left arm and the left angle of the jaw. This may be associated with diaphoresis (sweating), nausea and vomiting, as well as shortness of breath. In many cases, the sensation is "atypical", with pain experienced in different ways or even being completely absent (which is more likely in female patients and those with diabetes). Some may report palpitations, anxiety or a sense of impending doom (angor animi) and a feeling of being acutely ill. The description of the chest discomfort as a pressure has little utility in aiding a diagnosis as it is not specific for ACS.[7]
Though ACS is usually associated with coronary thrombosis, it can also be associated with cocaine use.[8] Chest pain with features characteristic of cardiac origin (angina) can also be precipitated by profound anemia, brady- or tachycardia (excessively slow or rapid heart rate), low or high blood pressure, severe aortic valve stenosis (narrowing of the valve at the beginning of the aorta), pulmonary artery hypertension and a number of other conditions.[9]
## Pathophysiology[edit]
In those who have ACS, atheroma rupture is most commonly found 60% when compared to atheroma erosion (30%), thus causes the formation of thrombus which block the coronary arteries. Plaque rupture is responsible for 60% in ST elevated myocardial infarction (STEMI) while plaque erosion is responsible for 30% if the STEMI and vice versa for Non ST elevated myocardial infarction (NSTEMI). In plaque rupture, the content of the plaque are lipid rich, collagen poor, with abundant inflammation which is macrophage predominant, and covered with a thin fibrous cap. Meanwhile, in plaque erosion, the plaque is rich with extracellular matrix, proteoglycan, glycoaminoglycan, but without fibrous caps, no inflammatory cells, and no large lipid core. After the coronary arteries are unblocked, there is a risk of reperfusion injury due spreading inflammatory mediators throughout the body. Investigations is still underway on the role of Cyclophilin D in reducing the reperfusion injury.[10] Other causes of acute coronary syndrome include spontaneous coronary artery dissection [11] and myocardial infarction in the absence of obstructive coronary artery disease (MINOCA),[12] however these are far less common.
## Diagnosis[edit]
Classification of acute coronary syndromes.[13]
### Electrocardiogram[edit]
In the setting of acute chest pain, the electrocardiogram is the investigation that most reliably distinguishes between various causes.[14] The ECG should be done as early as practicable, including in the ambulance if possible.[15] If this indicates acute heart damage (elevation in the ST segment, new left bundle branch block), treatment for a heart attack in the form of angioplasty or thrombolysis is indicated immediately (see below). In the absence of such changes, it is not possible to immediately distinguish between unstable angina and NSTEMI.
### Imaging and blood tests[edit]
As it is only one of the many potential causes of chest pain, the patient usually has a number of tests in the emergency department, such as a chest X-ray, blood tests (including myocardial markers such as troponin I or T, and H-FABP and/or a D-dimer if a pulmonary embolism is suspected), and telemetry (monitoring of the heart rhythm).
Combination of troponin levels (less than 5 ng/l) with low TIMI scores can help to predict those with low possibility of myocardial infarction and discharge them safely from the emergency department.[10] Coronary CT angiography combined with Troponin levels is also helpful to triage those who are susceptible to ACS. F-fluoride positron emission tomography is also helpful in identifying those with high risk, lipid-rich coronary plaques.[10]
### Prediction scores[edit]
The ACI-TIPI score can be used to aid diagnosis; using seven variables from the admission record, this score predicts crudely which patients are likely to have myocardial ischemia.[16] For example, according to a randomized controlled trial, males having chest pain with normal or non-diagnostic ECG are at higher risk for having acute coronary syndrome than women.[17] In this study, the sensitivity was 65.2% and specificity was 44%. This particular study had an 8.4% prevalence of acute coronary syndrome, which means the positive predictive value of being a male with chest pain and having coronary syndrome is 9.6% and negative predictive value is 93.2% ( click here to adjust these results for patients at higher or lower risk of acute coronary syndrome).
In a second cohort study, exercise electrocardiography was similarly found to be a poor predictor of acute coronary syndrome at follow-up.[18] Of the patients who had a coronary event at 6 years of follow up, 47% had a negative ECG at the start of the study. With an average follow up of 2.21 years the receiver operating characteristic curves gave resting ECG a score of 0.72 and exercise ECG a score of 0.74.
There are not only prediction scores for diagnosis of ACS, but also prognosis. Most notably, the GRACE ACS Risk and Mortality score helps diagnose, and based upon that score predicts mortality rate of a given patient. It takes into account both clinical (blood pressure, heart rate, EKG findings) and medical history in its scoring system.[19]
## Prevention[edit]
Acute coronary syndrome often reflects a degree of damage to the coronaries by atherosclerosis. Primary prevention of atherosclerosis is controlling the risk factors: healthy eating, exercise, treatment for hypertension and diabetes, avoiding smoking and controlling cholesterol levels; in patients with significant risk factors, aspirin has been shown to reduce the risk of cardiovascular events. Secondary prevention is discussed in myocardial infarction.
After a ban on smoking in all enclosed public places was introduced in Scotland in March 2006, there was a 17% reduction in hospital admissions for acute coronary syndrome. 67% of the decrease occurred in non-smokers.[20]
## Treatment[edit]
Main article: Management of acute coronary syndrome
People with presumed ACS are typically treated with aspirin, clopidogrel or ticagrelor, nitroglycerin, and if the chest discomfort persists morphine.[21] Other analgesics such as nitrous oxide are of unknown benefit.[21] Angiography is recommended in those who have either new ST elevation or a new left or right bundle branch block on their ECG.[1] Unless the person has low oxygen levels additional oxygen does not appear to be useful.[22]
### STEMI[edit]
If the ECG confirms changes suggestive of myocardial infarction (ST elevations in specific leads, a new left bundle branch block or a true posterior MI pattern), thrombolytics may be administered or primary coronary angioplasty may be performed. In the former, medication is injected that stimulates fibrinolysis, destroying blood clots obstructing the coronary arteries. In the latter, a flexible catheter is passed via the femoral or radial arteries and advanced to the heart to identify blockages in the coronaries. When occlusions are found, they can be intervened upon mechanically with angioplasty and usually stent deployment if a lesion, termed the culprit lesion, is thought to be causing myocardial damage. Data suggest that rapid triage, transfer and treatment is essential.[23] The time frame for door-to-needle thrombolytic administration according to American College of Cardiology (ACC) guidelines should be within 30 minutes, whereas the door-to-balloon Percutaneous Coronary Intervention (PCI) time should be less than 90 minutes. It was found that thrombolysis is more likely to be delivered within the established ACC guidelines among patients with STEMI as compared to PCI according to a case control study.[24]
### NSTEMI and NSTE-ACS[edit]
If the ECG does not show typical changes, the term "non-ST segment elevation ACS" is applied. The patient may still have suffered a "non-ST elevation MI" (NSTEMI). The accepted management of unstable angina and acute coronary syndrome is therefore empirical treatment with aspirin, a second platelet inhibitor such as clopidogrel, prasugrel or ticagrelor, and heparin (usually a low-molecular weight heparin), with intravenous nitroglycerin and opioids if the pain persists. The heparin-like drug known as fondaparinux appears to be better than enoxaparin.[25]
A blood test is generally performed for cardiac troponins twelve hours after onset of the pain. If this is positive, coronary angiography is typically performed on an urgent basis, as this is highly predictive of a heart attack in the near-future. If the troponin is negative, a treadmill exercise test or a thallium scintigram may be requested.
If there is no evidence of ST segment elevation on the electrocardiogram, delaying urgent angioplasty until the next morning is not inferior to doing so immediately.[26] Using statins in the first 14 days after ACS reduces the risk of further ACS.[27]
In a cohort study comparing NSTEMI and STEMI, people with NSTEMI had a similar risk of death at one year after PCI as compared to people with STEMI (3.4% vs 4.4%).[28] However, NSTEMI had significantly more "major cardiac events" (death, myocardial infarction, disabling stroke, or requiring revascularization) at one year (24.0% vs 16.6%).
Cocaine-associated ACS should be managed in a manner similar to other patients with acute coronary syndrome except beta blockers should not be used and benzodiazepines should be administered early.[29]
## Prognosis[edit]
### TIMI score[edit]
The TIMI risk score can identify high risk patients in non-ST segment elevation MI ACS[30] and has been independently validated.[31][32]
### Global Registry of Acute Coronary Events (GRACE) score[edit]
Based on a global registry of 102,341 patients, the GRACE score estimates in-hospital, 6 months, 1 year, and 3-year mortality risk after a heart attack. GRACE Score 2.0 Calculator.[19]
### Killip class[edit]
The Killip classification consists of 4 classes based on clinical symptoms. It predicts 30-day mortality after myocardial infarction.[33]
### Biomarkers for diagnosis[edit]
The aim of diagnostic markers is to identify patients with ACS even when there is no evidence of heart muscle damage.
* Ischemia-Modified Albumin (IMA) – In cases of Ischemia – Albumin undergoes a conformational change and loses its ability to bind transitional metals (copper or cobalt). IMA can be used to assess the proportion of modified albumin in ischemia. Its use is limited to ruling out ischemia rather than a diagnostic test for the occurrence of ischemia.
* Myeloperoxidase (MPO) – The levels of circulating MPO, a leukocyte enzyme, elevate early after ACS and can be used as an early marker for the condition.
* Glycogen Phosphorylase Isoenzyme BB-(GPBB) is an early marker of cardiac ischemia and is one of three isoenzyme of Glycogen Phosphorylase.
* Troponin is a late cardiac marker of ACS
### Biomarkers for risk determination[edit]
The aim of prognostic markers is to reflect different components of pathophysiology of ACS. For example:
* Natriuretic peptide – Both B-type natriuretic peptide (BNP) and N-terminal Pro BNP can be applied to predict the risk of death and heart failure following ACS.
* Monocyte chemo attractive protein (MCP)-1 – has been shown in a number of studies to identify patients with a higher risk of adverse outcomes after ACS.
### Day of admission[edit]
Studies have shown that for ACS patients, weekend admission is associated with higher mortality and lower utilization of invasive cardiac procedures, and those who did undergo these interventions had higher rates of mortality and complications than their weekday counterparts. This data leads to the possible conclusion that access to diagnostic/interventional procedures may be contingent upon the day of admission, which may impact mortality.[34][35] This phenomenon is described as weekend effect.
## Valvular heart disease[edit]
Valvular heart disease is characterized by damage to or defective in one of the four heart valves: the mitral, aortic, tricuspid or pulmonary.[36] Some types of valvular heart disease include valvular stenosis, vascular prolapse and regurgitation.
### Oral manifestations[edit]
Oral infections may pose risk during postoperative period of heart valve surgery. Oral health in patients scheduled for heart valve surgery is poorer than in individuals without valve disease.[37] Most of them suffer periodontitis due to high dental plaque scores, reflecting poorer dental hygiene. This situation could favour the appearance of bacteremia following tooth brushing in these individuals. Bacteremia secondary to periodontal infection is known to be one of the primary causes of infectious endocarditis, particularly in patient with heart valve disorders.[38] Therefore, treatment of dental disease should be done prior to performing heart surgery. Periodontal treatment is advised in patients with advanced periodontitis, followed by root planing and ultrasound treatment. Those teeth not amenable to treatment and with poor prognosis should be removed as pre-surgical preventive measures.
### Dental management[edit]
The two main concerns during dental treatment for people of patient with valvular heart disease are the risk of infective endocarditis and bleeding in anti coagulated patients. Endocarditis is more likely to occur in patients who have previously had endocarditis and those with certain cardiac lesions. Risk of a normally functioning prosthesis being infected after a dental procedure is probably no higher than risk in patient with damaged native valves. However, mortality and morbidity is much higher should prosthesis become infected. Patient with native valve disease can often stop or reduce their anticoagulants, but those with prosthetic valves should not discontinue anticoagulants without cardiological advice. Mechanical mitral valves are prone to thrombosis, which cause emboli if adequate anti-coagulation is not maintained, although short term modification may be possible.[39]
## Heart failure[edit]
Heart failure (HF) is defined as the incapacity of the heart to function properly, pumping insufficient blood towards the tissues and leading to fluid accumulation within the lungs, liver and peripheral tissues.
### Oral manifestations[edit]
Most if not all patients with heart failure will be undergoing drug treatments for their condition and these drugs can produce a series of oral manifestation. In this context, angiotensin-converting enzyme (ACE) inhibitors such as captopril and enalapril can produce burning mouth sensation lichenoid reactions and a loss of taste sensation, while diuretics like furosemide can produce xerostomia.[40]
### Dental management[edit]
Consultation with the supervising physician is highly advised in order to understand the patient's current condition and the medication prescribed. The patient should be receiving medical care, and heart failure should be compensated.[41] Dental treatment is to be limited to patients who are in stable condition, since these people are at a high risk of developing questionable arrhythmias and even sudden death secondary to cardiopulmonary arrest. Stress and anxiety are to be avoided during the visits, which in turn should be brief (< 30 minutes) and are to be scheduled for the morning sessions. The patient should be seated on the chair in a semi-supine position, with control of body movements (which should be slow), to avoid orthostatic hypotension. In patients who has been administered with digitalis agents (digoxin, methyl-digoxin), the vasoconstrictor dose should be limited to two anaesthetic carpules, since this drug combination can cause arrhythmias.[42] Aspirin (acetylsalicylic acid) can lead to fluid and sodium retention, and therefore should not be prescribed in patients with heart failure.[citation needed]
In emergency (i.e., lung edema), after contacting the emergency service, the patient should be seated with the legs lowered, and receiving nasal oxygen at a rate of 4–6 liters/minute. Sublingual nitroglycerin tablets are indicated (0.4-0.8 mg), and the dose may be repeated every 5 or 10 minutes if blood pressure is maintained.
## Arrhythmia[edit]
Arrhythmias are variations in normal heart rate due to cardiac rhythm, frequency or contraction disorders. The most common type of cardiac arrhythmia is atrial fibrillation.
### Oral manifestations[edit]
Many anti-arrhythmic drugs have side effects such as gingival hyperplasia or xerostomia.
### Dental management[edit]
Consultation with the supervising physician is also advised in order to understand the patient's current condition and the type of arrhythmia involved, as well as the medication prescribed. It must be checked that the patient uses the medication correctly. Stress and anxiety can be reduced with anxiolytics. Short visits in the morning are to be preferred.[43] Patient monitoring, with recording of the pulse, is indicated before treatment. It is very important to limit the use of vasoconstrictor in local anesthesia, with no more than two carpules. The treatment planned should not be too long or complicated. Although modern pacemakers are more resistant to electromagnetic interferences, caution is required when using electrical devices like ultrasound and electric scalpels that might interfere with pacemakers – especially the older models, since such devices developed in the last 30 years are bipolar and are generally not affected by the small electromagnetic fields generated by dental equipment. It is therefore important to know the type of pacemaker, the degree of electromagnetic protection of the generator, and the nature of the arrhythmia. If arrhythmia develops during dental treatment, the procedure should be suspended, oxygen is to be given, and the patient vital signs are to be assessed: body temperature (normal values: 35.5-37oC), pulse (normal values: 60-100 bpm), respiratory frequency (normal values in adults: 14-20 cycles or respirations per minute), blood pressure (normal values: systolic blood pressure under 140 mmHg and diastolic blood pressure under 90 mmHg). Sublingual nitrites are to be administered if there is chest pain.[44] The patient should be placed in the Trendelenburg position, with vagal maneuvering where necessary (valsalva maneuver, massage in the carotid pulse region).[45] The dental team should be prepared for basic cardiopulmonary resuscitation and initiation of the emergency procedure for evacuation to a hospital centre, if necessary.
## See also[edit]
* Allergic acute coronary syndrome (Kounis syndrome)
## References[edit]
1. ^ a b Amsterdam, E. A.; Wenger, N. K.; Brindis, R. G.; Casey, D. E.; Ganiats, T. G.; Holmes, D. R.; Jaffe, A. S.; Jneid, H.; Kelly, R. F.; Kontos, M. C.; Levine, G. N.; Liebson, P. R.; Mukherjee, D.; Peterson, E. D.; Sabatine, M. S.; Smalling, R. W.; Zieman, S. J. (23 September 2014). "2014 AHA/ACC Guideline for the Management of Patients With Non-ST-Elevation Acute Coronary Syndromes: A Report of the American College of Cardiology/American Heart Association Task Force on Practice Guidelines". Circulation. 130 (25): e344–e426. doi:10.1161/CIR.0000000000000134. PMID 25249585.
2. ^ Goodacre S, Pett P, Arnold J, Chawla A, Hollingsworth J, Roe D, Crowder S, Mann C, Pitcher D, Brett C (November 2009). "Clinical diagnosis of acute coronary syndrome in patients with chest pain and a normal or non-diagnostic electrocardiogram". Emergency Medicine Journal. 26 (12): 866–870. doi:10.1136/emj.2008.064428. PMID 19934131. Archived from the original on 5 April 2017.
3. ^ Canto JG, Shlipak MG, Rogers WJ (June 2000). "Prevalence, Clinical Characteristics, and Mortality among Patients with Acute Myocardial Infarction Presenting Without Chest Pain". JAMA. 283 (24): 3223–3229, vi. doi:10.1001/jama.283.24.3223. PMID 10866870.
4. ^ Grech ED, Ramsdale DR (June 2003). "Acute coronary syndrome: unstable angina and non-ST segment elevation myocardial infarction". BMJ. 326 (7401): 1259–61. doi:10.1136/bmj.326.7401.1259. PMC 1126130. PMID 12791748.
5. ^ Torres M, Moayedi S (May 2007). "Evaluation of the acutely dyspneic elderly patient". Clin. Geriatr. Med. 23 (2): 307–25, vi. doi:10.1016/j.cger.2007.01.007. PMID 17462519.
6. ^ "Dorlands Medical Dictionary:acute coronary syndrome". Archived from the original on 7 September 2009.
7. ^ Woo KM, Schneider JI (November 2009). "High-risk chief complaints I: chest pain--the big three". Emerg. Med. Clin. North Am. 27 (4): 685–712, x. doi:10.1016/j.emc.2009.07.007. PMID 19932401.
8. ^ Achar SA, Kundu S, Norcross WA (2005). "Diagnosis of acute coronary syndrome". Am Fam Physician. 72 (1): 119–26. PMID 16035692. Archived from the original on 9 October 2007.
9. ^ "Chest Pain in the Emergency Department: Differential Diagnosis". The Cardiology Advisor. 20 January 2019. Retrieved 25 July 2019.
10. ^ a b c Eisen, Alon; Giugliano, Robert P; Braunwald, Eugene (20 July 2016). "Updates on acute coronary syndrome: A review". JAMA Cardiology. 1 (16): 718–730. doi:10.1001/jamacardio.2016.2049. PMID 27438381.
11. ^ Franke, Kyle B; Wong, Dennis TL; Baumann, Angus; Nicholls, Stephen J; Gulati, Rajiv; Psaltis, Peter J (4 April 2019). "Current state-of-play in spontaneous coronary artery dissection". Cardiovascular Diagnosis and Therapy. 9 (3). doi:10.21037/cdt.2019.04.03. PMC 6603494.
12. ^ Tamis-Holland, JE (27 March 2019). "Diagnosis and Management of MINOCA Patients". Circulation. 139 (18): 891–908. doi:10.1161/CIR.0000000000000670.
13. ^ Alpert JS, Thygesen K, Antman E, Bassand JP (2000). "Myocardial infarction redefined--a consensus document of The Joint European Society of Cardiology/American College of Cardiology Committee for the redefinition of myocardial infarction". J Am Coll Cardiol. 36 (3): 959–69. doi:10.1016/S0735-1097(00)00804-4. PMID 10987628.
14. ^ Chun AA, McGee SR (2004). "Bedside diagnosis of coronary artery disease: a systematic review". Am. J. Med. 117 (5): 334–43. doi:10.1016/j.amjmed.2004.03.021. PMID 15336583.
15. ^ Neumar, RW; Shuster, M; Callaway, CW; Gent, LM; Atkins, DL; Bhanji, F; Brooks, SC; de Caen, AR; Donnino, MW; Ferrer, JM; Kleinman, ME; Kronick, SL; Lavonas, EJ; Link, MS; Mancini, ME; Morrison, LJ; O'Connor, RE; Samson, RA; Schexnayder, SM; Singletary, EM; Sinz, EH; Travers, AH; Wyckoff, MH; Hazinski, MF (3 November 2015). "Part 1: Executive Summary: 2015 American Heart Association Guidelines Update for Cardiopulmonary Resuscitation and Emergency Cardiovascular Care". Circulation. 132 (18 Suppl 2): S315–67. doi:10.1161/cir.0000000000000252. PMID 26472989.
16. ^ Selker HP, Griffith JL, D'Agostino RB (1991). "A tool for judging coronary care unit admission appropriateness, valid for both real-time and retrospective use. A time-insensitive predictive instrument (TIPI) for acute cardiac ischemia: a multicenter study". Medical Care. 29 (7): 610–27. doi:10.1097/00005650-199107000-00002. PMID 2072767.
17. ^ Goodacre, S; Pett, P; Arnold, J; Chawla, A; Hollingsworth, J; Roe, D; Crowder, S; Mann, C; Pitcher, D; Brett, C (2009). "Clinical diagnosis of acute coronary syndrome in patients with chest pain and a normal or non-diagnostic electrocardiogram". Emergency Medicine Journal. 26 (12): 866–70. doi:10.1136/emj.2008.064428. PMID 19934131.
18. ^ Sekhri, N; Feder, GS; Junghans, C; Eldridge, S; Umaipalan, A; Madhu, R; Hemingway, H; Timmis, AD (2008). "Incremental prognostic value of the exercise electrocardiogram in the initial assessment of patients with suspected angina: cohort study". BMJ (Clinical Research Ed.). 337: a2240. doi:10.1136/bmj.a2240. PMC 2583389. PMID 19008264.
19. ^ a b Fox KA, Dabbous OH, Goldberg RJ, Pieper KS, Eagle KA, Van de Werf F, Avezum A, Goodman SG, Flather MD, Anderson FA Jr, Granger CB (2006). "Prediction of risk of death and myocardial infarction in the six months after presentation with acute coronary syndrome: prospective multinational observational study (GRACE)". BMJ. 333 (7578): 1091. doi:10.1136/bmj.38985.646481.55. PMC 1661748. PMID 17032691.
20. ^ Pell JP, Haw S, Cobbe S, et al. (2008). "Smoke-free Legislation and Hospitalizations for Acute Coronary Syndrome" (PDF). New England Journal of Medicine. 359 (5): 482–91. doi:10.1056/NEJMsa0706740. hdl:1893/16659. PMID 18669427.
21. ^ a b O'Connor RE, Brady W, Brooks SC, et al. (November 2010). "Part 10: acute coronary syndromes: 2010 American Heart Association Guidelines for Cardiopulmonary Resuscitation and Emergency Cardiovascular Care". Circulation. 122 (18 Suppl 3): S787–817. doi:10.1161/CIRCULATIONAHA.110.971028. PMID 20956226.
22. ^ Neumar, RW; Shuster, M; Callaway, CW; Gent, LM; Atkins, DL; Bhanji, F; Brooks, SC; de Caen, AR; Donnino, MW; Ferrer, JM; Kleinman, ME; Kronick, SL; Lavonas, EJ; Link, MS; Mancini, ME; Morrison, LJ; O'Connor, RE; Samson, RA; Schexnayder, SM; Singletary, EM; Sinz, EH; Travers, AH; Wyckoff, MH; Hazinski, MF (3 November 2015). "Part 1: Executive Summary: 2015 American Heart Association Guidelines Update for Cardiopulmonary Resuscitation and Emergency Cardiovascular Care". Circulation. 132 (18 Suppl 2): S315–67. doi:10.1161/cir.0000000000000252. PMID 26472989.
23. ^ Blankenship JC, Skelding KA (2008). "Rapid Triage, Transfer, and Treatment with Percutaneous Coronary Intervention for Patients with ST-Segment Elevation Myocardial Infarction". Acute Coronary Syndromes. 9 (2): 59–65. Archived from the original on 15 July 2011.
24. ^ Janda, SP; Tan, N (2009). "Thrombolysis versus primary percutaneous coronary intervention for ST elevation myocardial infarctions at Chilliwack General Hospital". The Canadian Journal of Cardiology. 25 (11): e382–4. doi:10.1016/S0828-282X(09)70165-5. PMC 2776568. PMID 19898701.
25. ^ Bundhun, PK; Shaik, M; Yuan, J (8 May 2017). "Choosing between Enoxaparin and Fondaparinux for the management of patients with acute coronary syndrome: A systematic review and meta-analysis". BMC Cardiovascular Disorders. 17 (1): 116. doi:10.1186/s12872-017-0552-z. PMC 5422952. PMID 28482804.
26. ^ Montalescot G, Cayla G, Collet JP, Elhadad S, Beygui F, Le Breton H, et al. (2009). "Immediate vs delayed intervention for acute coronary syndromes: a randomized clinical trial". JAMA. 302 (9): 947–54. doi:10.1001/jama.2009.1267. PMID 19724041.
27. ^ Vale, N; Nordmann, AJ; Schwartz, GG; de Lemos, J; Colivicchi, F; den Hartog, F; Ostadal, P; Macin, SM; Liem, AH; Mills, EJ; Bhatnagar, N; Bucher, HC; Briel, M (1 September 2014). "Statins for acute coronary syndrome". The Cochrane Database of Systematic Reviews. 9 (9): CD006870. doi:10.1002/14651858.CD006870.pub3. PMID 25178118.
28. ^ Cox, D. A.; Stone, G. W.; Grines, C. L.; Stuckey, T.; Zimetbaum, P. J.; Tcheng, J. E.; Turco, M.; Garcia, E.; Guagliumi, G.; Iwaoka, R. S.; Mehran, R.; O'Neill, W. W.; Lansky, A. J.; Griffin, J. J.; Cadillac, I. (2006). "Comparative Early and Late Outcomes After Primary Percutaneous Coronary Intervention in ST-Segment Elevation and Non–ST-Segment Elevation Acute Myocardial Infarction (from the CADILLAC Trial)". The American Journal of Cardiology. 98 (3): 331–337. doi:10.1016/j.amjcard.2006.01.102. PMID 16860018.
29. ^ McCord J, Jneid H, Hollander JE, et al. (April 2008). "Management of cocaine-associated chest pain and myocardial infarction: a scientific statement from the American Heart Association Acute Cardiac Care Committee of the Council on Clinical Cardiology". Circulation. 117 (14): 1897–907. doi:10.1161/CIRCULATIONAHA.107.188950. PMID 18347214.
30. ^ Antman EM, Cohen M, Bernink PJ, et al. (2000). "The TIMI risk score for unstable angina/non-ST elevation MI: A method for prognostication and therapeutic decision making". JAMA. 284 (7): 835–42. doi:10.1001/jama.284.7.835. PMID 10938172.
31. ^ Pollack CV, Sites FD, Shofer FS, Sease KL, Hollander JE (2006). "Application of the TIMI risk score for unstable angina and non-ST elevation acute coronary syndrome to an unselected emergency department chest pain population". Academic Emergency Medicine. 13 (1): 13–8. doi:10.1197/j.aem.2005.06.031. PMID 16365321.
32. ^ Chase M, Robey JL, Zogby KE, Sease KL, Shofer FS, Hollander JE (2006). "Prospective validation of the Thrombolysis in Myocardial Infarction Risk Score in the emergency department chest pain population". Annals of Emergency Medicine. 48 (3): 252–9. doi:10.1016/j.annemergmed.2006.01.032. PMID 16934646.
33. ^ Killip, Thomas; Kimball, John T. (1967). "Treatment of myocardial infarction in a coronary care unit". The American Journal of Cardiology. 20 (4): 457–464. doi:10.1016/0002-9149(67)90023-9. PMID 6059183.
34. ^ Khoshchehreh M, Groves EM, Tehrani D, Amin A, Patel PM, Malik S (2016). "Changes in mortality on weekend versus weekday admissions for Acute Coronary Syndrome in the United States over the past decade". Int J Cardiol. 210: 164–172. doi:10.1016/j.ijcard.2016.02.087. PMC 4801736. PMID 26950171.
35. ^ Kostis W.J.; Demissie K.; Marcella S.W.; Shao Y.-H.; Wilson A.C.; Moreyra A.E. (2007). "Weekend versus weekday admission and mortality from myocardial infarction". N Engl J Med. 356 (11): 1099–1109. doi:10.1056/nejmoa063355. PMID 17360988.
36. ^ [Valvular heart disease is characterized by damage to or defective in one of the four heart valves: the mitral, aortic, tricuspid or pulmonary. "Valvular Heart Disease"]. "Valvular Heart Disease". Cite journal requires `|journal=` (help)CS1 maint: multiple names: authors list (link)
37. ^ Silvestre, FJ; Gil-Raga, I; Martinez-Herrera, M; Lauritano, D; Silvestre-Rangil, J (2017). "Prior oral conditions in patients undergoing heart valve surgery". Journal of Clinical and Experimental Dentistry: 0–0. doi:10.4317/jced.53902. ISSN 1989-5488.
38. ^ Jowett, N.; Cabot, L. (23 September 2000). "Patients with cardiac disease: considerations for the dental practitioner". British Dental Journal. 189 (6): 297–302. doi:10.1038/sj.bdj.4800750a. ISSN 0007-0610.
39. ^ ROSE, LOUIS F.; MEALEY, BRIAN; MINSK, LAURA; COHEN, D. WALTER (2002). "Oral care for patients with cardiovascular disease and stroke". The Journal of the American Dental Association. 133: 37S–44S. doi:10.14219/jada.archive.2002.0378. ISSN 0002-8177.
40. ^ Cáceres, Maria Teresa Fernández; Ludovice, Ana Cristina P. P.; Brito, Fabio Sândoli de; Darrieux, Francisco Carlos; Neves, Ricardo Simões; Scanavacca, Mauricio Ibrahim; Sosa, Eduardo A.; Hachul, Denise Tessariol. "Efeito de anestésicos locais com e sem vasoconstritor em pacientes com arritmias ventriculares". Arquivos Brasileiros de Cardiologia. 91 (3). doi:10.1590/s0066-782x2008001500002. ISSN 0066-782X.
41. ^ MUZYKA, BRIAN C. (1999). "ATRIAL FIBRILLATION AND ITS RELATIONSHIP TO DENTAL CARE". The Journal of the American Dental Association. 130 (7): 1080–1085. doi:10.14219/jada.archive.1999.0339. ISSN 0002-8177.
42. ^ Magarakis, Michael; Macias, Alejandro E.; Ghodsizad, Ali; Salerno, Tomas A. (2018), "Surgical Management of Cardiovascular Thrombotic Conditions", Cardiovascular Thrombus, Elsevier, pp. 367–376, doi:10.1016/b978-0-12-812615-8.00025-9, ISBN 978-0-12-812615-8
43. ^ Gourraud, Jean-Baptiste; Barc, Julien; Thollet, Aurélie; Le Marec, Hervé; Probst, Vincent (2017). "Brugada syndrome: Diagnosis, risk stratification and management". Archives of Cardiovascular Diseases. 110 (3): 188–195. doi:10.1016/j.acvd.2016.09.009. ISSN 1875-2136.
44. ^ McDonald, Jay R. (2009). "Acute Infective Endocarditis". Infectious Disease Clinics of North America. 23 (3): 643–664. doi:10.1016/j.idc.2009.04.013. ISSN 0891-5520. PMC 2726828. PMID 19665088.
45. ^ Chaudhry, Swantika; Jaiswal, Ritika; Sachdeva, Surender (2016). "Dental considerations in cardiovascular patients: A practical perspective". Indian Heart Journal. 68 (4): 572–575. doi:10.1016/j.ihj.2015.11.034. ISSN 0019-4832.
## External links[edit]
Classification
D
* ICD-10: I24.9
* MeSH: D054058
External resources
* eMedicine: emerg/31
* Patient UK: Acute coronary syndrome
* v
* t
* e
Cardiovascular disease (heart)
Ischaemic
Coronary disease
* Coronary artery disease (CAD)
* Coronary artery aneurysm
* Spontaneous coronary artery dissection (SCAD)
* Coronary thrombosis
* Coronary vasospasm
* Myocardial bridge
Active ischemia
* Angina pectoris
* Prinzmetal's angina
* Stable angina
* Acute coronary syndrome
* Myocardial infarction
* Unstable angina
Sequelae
* hours
* Hibernating myocardium
* Myocardial stunning
* days
* Myocardial rupture
* weeks
* Aneurysm of heart / Ventricular aneurysm
* Dressler syndrome
Layers
Pericardium
* Pericarditis
* Acute
* Chronic / Constrictive
* Pericardial effusion
* Cardiac tamponade
* Hemopericardium
Myocardium
* Myocarditis
* Chagas disease
* Cardiomyopathy
* Dilated
* Alcoholic
* Hypertrophic
* Tachycardia-induced
* Restrictive
* Loeffler endocarditis
* Cardiac amyloidosis
* Endocardial fibroelastosis
* Arrhythmogenic right ventricular dysplasia
Endocardium /
valves
Endocarditis
* infective endocarditis
* Subacute bacterial endocarditis
* non-infective endocarditis
* Libman–Sacks endocarditis
* Nonbacterial thrombotic endocarditis
Valves
* mitral
* regurgitation
* prolapse
* stenosis
* aortic
* stenosis
* insufficiency
* tricuspid
* stenosis
* insufficiency
* pulmonary
* stenosis
* insufficiency
Conduction /
arrhythmia
Bradycardia
* Sinus bradycardia
* Sick sinus syndrome
* Heart block: Sinoatrial
* AV
* 1°
* 2°
* 3°
* Intraventricular
* Bundle branch block
* Right
* Left
* Left anterior fascicle
* Left posterior fascicle
* Bifascicular
* Trifascicular
* Adams–Stokes syndrome
Tachycardia
(paroxysmal and sinus)
Supraventricular
* Atrial
* Multifocal
* Junctional
* AV nodal reentrant
* Junctional ectopic
Ventricular
* Accelerated idioventricular rhythm
* Catecholaminergic polymorphic
* Torsades de pointes
Premature contraction
* Atrial
* Junctional
* Ventricular
Pre-excitation syndrome
* Lown–Ganong–Levine
* Wolff–Parkinson–White
Flutter / fibrillation
* Atrial flutter
* Ventricular flutter
* Atrial fibrillation
* Familial
* Ventricular fibrillation
Pacemaker
* Ectopic pacemaker / Ectopic beat
* Multifocal atrial tachycardia
* Pacemaker syndrome
* Parasystole
* Wandering atrial pacemaker
Long QT syndrome
* Andersen–Tawil
* Jervell and Lange-Nielsen
* Romano–Ward
Cardiac arrest
* Sudden cardiac death
* Asystole
* Pulseless electrical activity
* Sinoatrial arrest
Other / ungrouped
* hexaxial reference system
* Right axis deviation
* Left axis deviation
* QT
* Short QT syndrome
* T
* T wave alternans
* ST
* Osborn wave
* ST elevation
* ST depression
* Strain pattern
Cardiomegaly
* Ventricular hypertrophy
* Left
* Right / Cor pulmonale
* Atrial enlargement
* Left
* Right
* Athletic heart syndrome
Other
* Cardiac fibrosis
* Heart failure
* Diastolic heart failure
* Cardiac asthma
* Rheumatic fever
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: Dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: Luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone-binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
*[FSH]: Follicle-stimulating hormone
*[HHAT]: hedgehog acyltransferase
*[Hh]: Hedgehog
*[ABS]: amniotic band syndrome
| Acute coronary syndrome | c0948089 | 30,294 | wikipedia | https://en.wikipedia.org/wiki/Acute_coronary_syndrome | 2021-01-18T18:28:02 | {"mesh": ["D054058"], "umls": ["C0948089"], "icd-10": ["I20.0"], "wikidata": ["Q266018"]} |
Long-term symptoms and/or sequelae of COVID-19
Part of a series on the
COVID-19 pandemic
* SARS-CoV-2 (virus)
* COVID-19 (disease)
Timeline
2019
2020
* January
* February
* responses
* March
* responses
* April
* responses
* May
* responses
* June
* responses
* July
* responses
* August
* responses
* September
* responses
* October
* responses
* November
* responses
* December
* responses
2021
* January
* responses
Locations
* By continent
* Africa
* Antarctica
* Asia
* Europe
* North America
* Oceania
* South America
* By conveyance
* Cruise ships
* Naval ships
* Cases
* Deaths
International response
* United Nations
* National responses
* India
* New Zealand
* Philippines
* Russia
* Sweden
* U.K.
* U.S.
* European Union response
* Protests
* U.S.
* Lockdowns
* Evacuations
* Travel restrictions
* International aid
* Face masks
Medical response
* Disease testing
* COVID-19 vaccines
* * Gamaleya
* Moderna
* Oxford–AstraZeneca
* Pfizer-BioNTech
* Sinopharm
* Sinovac
* Drug development
* Drug repurposing
* Variants of SARS-CoV-2
Impact
* Socio-economic
* Crime
* Ireland
* Death rates by country
* Disability
* Domestic violence
* Economic
* Canada
* India
* Ireland
* U.K.
* U.S.
* Recession
* Emergency evacuations
* Environment
* Fake treatments
* Financial markets
* Food security
* Hospitals
* Language
* Long-term care
* Migration
* Misinformation
* Military
* Other health issues
* Politics
* Ireland
* Pregnancy
* Prisons
* Religion
* Catholic Church
* Hajj
* Science and technology
* Social
* Ireland
* U.K.
* U.S.
* Strikes
* Xenophobia and racism
* Notable deaths
* By industry
* Arts and culture
* Aviation
* Cannabis
* Cinema
* films
* Education
* Ireland
* United Kingdom
* Event cancellations
* Fashion
* Food
* Canada meat
* U.S. meat
* Journalism
* Music
* Performing arts
* Retail
* Sports
* Ireland
* Television
* U.S.
* Tourism
* Video games
COVID-19 Portal
* v
* t
* e
Long COVID, also known as chronic COVID syndrome (CCS) and long-haul COVID,[1][2][3] is an informal name for the condition characterised by long-term sequelae—persisting after the typical convalescence period—of coronavirus disease 2019 (COVID-19). Persistent symptoms include fatigue, headaches, shortness of breath, anosmia (loss of smell), muscle weakness, low fever and cognitive dysfunction (brain fog).
About 10% of people who have tested positive for SARS-CoV-2 experience a range of symptoms that last longer than three weeks.[4] About 2% of people report having symptoms which last longer than 12 weeks,[5] which is called post-COVID-19 syndrome. Sufferers of long COVID are sometimes called long-haulers.
Studies are under way into various aspects of long COVID, but as of December 2020[update] it is too early to draw conclusions, although one study has suggested risk factors for developing the illness. Health systems in some countries or jurisdictions[which?] have been mobilised to deal with this group of patients by creating specialised clinics and providing advice.
Anyone infected with SARS-CoV-2 can suffer from "long COVID" after the infection is considered to have ended, including young, healthy people,[6][non-primary source needed] and even if the initial disease at its peak only caused minor symptoms. The risk of long COVID for patients of any age, in addition to the age-dependent risk of serious illness or death during the acute phase, makes it important to prevent coronavirus infection and master the pandemic through measures including social distancing, use of face masks, and of personal protective equipment by those working with patients,[7] hand cleaning, and vaccination.
While "Long COVID" is observed after acute COVID-19, it had not been reported after vaccination, with over 100,000 participants included in vaccine trials by December 2020.[8][9][10]
## Contents
* 1 Terminology and definitions
* 1.1 British definition
* 2 Incidence
* 3 Cause
* 4 Risk factors
* 5 Health system responses
* 5.1 Australia
* 5.2 United Kingdom
* 6 Public response
* 7 List of symptoms
* 8 See also
* 9 References
* 10 Further reading
* 11 External links
## Terminology and definitions[edit]
Long COVID is a patient-created term which was reportedly first used in May 2020 as a hashtag on Twitter by Elisa Perego.[11][12]
Sufferers are often referred to as long-haulers.[13][14][15][16][17]
Long COVID has no single, strict definition.[18] It is normal and expected that people who experience severe symptoms or complications such as post-intensive care syndrome or secondary infections will naturally take longer to recover than people who had mild illness and no such complications. This natural variation can make it difficult to determine whether a specific individual's set of ongoing symptoms represent a fundamentally normal, if long, convalescence, or if long COVID is present. One rule of thumb is that long COVID represents symptoms that have been present for longer than two months.[18]
### British definition[edit]
The British National Institute for Health and Care Excellence (NICE) divides COVID-19 into three clinical definitions:
* acute COVID-19 for signs and symptoms during the first 4 weeks after infection with severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2),
* new or ongoing symptoms 4 weeks or more after the start of acute COVID-19, which is divided into:
* ongoing symptomatic COVID-19 for effects from 4 to 12 weeks after onset, and
* post-COVID-19 syndrome for effects that persist 12 or more weeks after onset.
NICE describes the term long COVID, which it uses "in addition to the clinical case definitions", as "commonly used to describe signs and symptoms that continue or develop after acute COVID-19. It includes both ongoing symptomatic COVID-19 (from 4 to 12 weeks) and post-COVID-19 syndrome (12 weeks or more)".[19]
NICE defines post-COVID-19 syndrome as "Signs and symptoms that develop during or after an infection consistent with COVID‑19, continue for more than 12 weeks and are not explained by an alternative diagnosis. It usually presents with clusters of symptoms, often overlapping, which can fluctuate and change over time and can affect any system in the body. Post‑COVID‑19 syndrome may be considered before 12 weeks while the possibility of an alternative underlying disease is also being assessed".[19]
## Incidence[edit]
As time passed, from the first reports of the disease in December 2019 through the spread of the COVID-19 pandemic into 2020, it started becoming clear that COVID-19 was a long-term illness for many people,[20][13] seen in people who had a mild or moderate initial infection[21] as well as those who were admitted to hospital with more severe infection.[22][23][scientific citation needed]
Some early studies suggested that between 1 in 5 and 1 in 10 people with COVID-19 experienced symptoms lasting longer than a month.[20] Early studies usually tracked people who had been hospitalized for severe COVID, and whose recovery was longer.[4] Among the general population, about 90% of people stop reporting symptoms after about three weeks, and about 10% continue to report significant symptoms.[4] Different studies continue to report different rates.[4]
A case report and systematic review from Sweden has suggested that long COVID may also occur in children.[24][25] Common symptoms in children were fatigue, dyspnoea, heart palpitations or chest pain, and there seemed to be a female predominance.[24]
A majority (up to 80%[26]) of those who were admitted to hospital with severe disease experience long-term problems including fatigue and shortness of breath (dyspnoea).[27][20][28] Patients with severe initial infection, particularly those who required mechanical ventilation to help breathing, are also likely to suffer from post-intensive care syndrome following recovery.[22]
A September 2020 study by King's College, London suggested the incidence in the UK was up to 60,000,[29] but statistics published in December by the Office of National Statistics suggest that as many as one in five patients are afflicted with long-term symptoms (although these statistics only report post-COVID and not pre-COVID incidence of those symptoms, which may have been pre-existent).[30][31]
A study of patients who had been hospitalised in Wuhan found that the majority still had at least one symptom after six months. Patients who had been more severely ill still showed severe incapacity in lung function.[32] Among the 1733 patients who had been discharged from hospital and followed up about six months later, the most common symptoms were fatigue or muscle weakness (63%), sleep difficulties (26%), and anxiety or depression (23%).[33]
## Cause[edit]
No one knows why most people recover fully within two to three weeks and others experience symptoms for weeks or months longer.[4] An early analysis by the United Kingdom's National Institute for Health Research suggests that ongoing long COVID symptoms may be due to four syndromes:[20][34]
* permanent damage to the lungs and heart,
* post-intensive care syndrome,
* post-viral fatigue syndrome, and
* continuing COVID-19 symptoms.
Other situations that might cause new and ongoing symptoms include:
* the virus being present for a longer time than usual, due to an ineffective immune response;[4]
* reinfection (e.g., with another strain of the virus);[4]
* damage caused by inflammation and a strong immune response to the infection;[4]
* physical deconditioning due to a lack of exercise while ill;[4] and
* post-traumatic stress or other mental sequelae,[4] especially in people who had previously experienced anxiety, depression, insomnia, or other mental health difficulties.[35][non-primary source needed]
Long COVID is similar to post-Ebola syndrome and the post-infection syndromes seen in chikungunya and the infections that appear to trigger myalgic encephalomyelitis (ME, aka chronic fatigue syndrome), and the pathophysiology of long COVID may be similar to these other conditions.[18]
## Risk factors[edit]
According to a King's College London study initially posted on 21 October 2020[5][unreliable medical source?] risk factors for long COVID may include:[36][37][scientific citation needed]
* Age – particularly those aged over 50
* Excess weight
* Asthma
* Reporting more than five symptoms (e.g. more than cough, fatigue, headache, diarrhoea, loss of sense of smell) in the first week of COVID-19 infection; five is the median number reported
Women and girls are less likely to develop severe acute COVID but more likely to develop long COVID than men and boys.[18] This is unlikely to be due primarily to hormonal differences, but other factors, including chromosomal genetics, sex-dependent differences in immune system behavior, and non-biological factors may be relevant.[18]
## Health system responses[edit]
### Australia[edit]
In October 2020, a guide published by the Royal Australian College of General Practitioners (RACGP) says that ongoing post-COVID-19 infection symptoms such as fatigue, shortness of breath and chest pain will require management by GPs, in addition to the more severe conditions already documented.[26]
### United Kingdom[edit]
In Britain, the National Health Service set up specialist clinics for the treatment of long COVID.[38] The four Chief Medical Officers of the UK were warned of academic concern over long COVID on 21 September 2020 in a letter written by Trisha Greenhalgh published in The BMJ[39] signed by academics including David Hunter, Martin McKee, Susan Michie, Melinda Mills, Christina Pagel, Stephen Reicher, Gabriel Scally, Devi Sridhar, Charles Tannock, Yee Whye Teh, and Harry Burns, former CMO for Scotland.[39] In October 2020, NHS England's head Simon Stevens announced the NHS had committed £10 million to be spent that year on setting up long COVID clinics to assess patients' physical, cognitive, and psychological conditions and to provide specialist treatment. Future clinical guidelines were announced, with further research on 10,000 patients planned and a designated task-force to be set up, along with an online rehabilitation service[40] – "Your Covid Recovery".[41] The clinics include a variety of medical professionals and therapists, with the aim of providing "joined-up care for physical and mental health”.[31]
The National Institute for Health Research has allocated funding for research into the mechanisms behind symptoms of Long COVID.[31]
In December 2020, University College London Hospitals (UCLH) opened a second Long Covid clinic at the National Hospital for Neurology and Neurosurgery for patients with post-Covid neurological issues. The first clinic had opened in May, primarily focused on respiratory problems, but both clinics refer patients to other specialists where needed, including cardiologists, physiotherapists and psychiatrists.[42]
On 18 December 2020, the National Institute for Health and Care Excellence (NICE), the Royal College of General Practitioners (RCGP) and the Scottish Intercollegiate Guidelines Network (SIGN) published a guide to the management of Long COVID.[43]
## Public response[edit]
Some people experiencing long COVID have formed groups on social media sites.[44][45] In many of these groups, individuals express frustration and their sense that their problems have been dismissed by medical professionals.[45]
## List of symptoms[edit]
Symptoms reported by people with long COVID include:[46][15][16][non-primary source needed][47]
* Extreme fatigue
* Long lasting cough
* Muscle weakness
* Low grade fever
* Inability to concentrate (brain fog)
* Memory lapses
* Changes in mood, sometimes accompanied by depression and other mental health problems
* Sleep difficulties
* Headaches
* Joint pain
* Needle pains in arms and legs
* Diarrhoea and bouts of vomiting
* Loss of taste and smell
* Sore throat and difficulties to swallow
* New onset of diabetes and hypertension
* Skin rash
* Shortness of breath
* Chest pains
* Palpitations
* Kidney problems
## See also[edit]
* Post viral cerebellar ataxia – clumsy movement appearing a few weeks after a viral infection
* Post-polio syndrome – delayed reaction appearing years after acute polio infection resolves
* Post-Ebola virus syndrome – symptoms that persist after recovering from Ebola
## References[edit]
1. ^ Baig AM (October 2020). "Chronic COVID Syndrome: Need for an appropriate medical terminology for Long-COVID and COVID Long-Haulers". Journal of Medical Virology. doi:10.1002/jmv.26624. PMID 33095459.
2. ^ Staff (13 November 2020). "Long-Term Effects of COVID-19". Centers for Disease Control and Prevention. Retrieved 27 November 2020.
3. ^ "Overview | COVID-19 rapid guideline: managing the long-term effects of COVID-19 | Guidance | NICE". National Institute for Health and Care Excellence. 18 December 2020. Retrieved 18 December 2020.
4. ^ a b c d e f g h i j Greenhalgh T, Knight M, A'Court C, Buxton M, Husain L (August 2020). "Management of post-acute covid-19 in primary care". BMJ. 370: m3026. doi:10.1136/bmj.m3026. PMID 32784198. S2CID 221097768.
5. ^ a b Sudre CH, Murray B, Varsavsky T, Graham MS, Penfold RS, Bowyer RC, Pujol JC, Klaser K, Antonelli M, Canas LS, Molteni E (19 December 2020). "Attributes and predictors of Long-COVID: analysis of COVID cases and their symptoms collected by the Covid Symptoms Study App". MedRxiv, Preprint Server for the Health Sciences. doi:10.1101/2020.10.19.20214494. S2CID 224805406. Retrieved 23 December 2020. Not peer-reviewed as of December 2020[update]
6. ^ Brito D, Meester S, Yanamala N, Patel HB, Balcik BJ, Casaclang-Verzosa G, et al. (November 2020). "High Prevalence of Pericardial Involvement in College Student Athletes Recovering From COVID-19". JACC. Cardiovascular Imaging: S1936878X20309463. doi:10.1016/j.jcmg.2020.10.023. PMC 7641597. PMID 33223496.
7. ^ Cook TM (July 2020). "Personal protective equipment during the coronavirus disease (COVID) 2019 pandemic - a narrative review". Anaesthesia. 75 (7): 920–927. doi:10.1111/anae.15071. PMID 32246849.
8. ^ Polack FP, Thomas SJ, Kitchin N, Absalon J, Gurtman A, Lockhart S, et al. (December 2020). "Safety and Efficacy of the BNT162b2 mRNA Covid-19 Vaccine". The New England Journal of Medicine. 383 (27): 2603–2615. doi:10.1056/NEJMoa2034577. PMC 7745181. PMID 33301246.
9. ^ Anderson EJ, Rouphael NG, Widge AT, Jackson LA, Roberts PC, Makhene M, et al. (December 2020). "Safety and Immunogenicity of SARS-CoV-2 mRNA-1273 Vaccine in Older Adults". The New England Journal of Medicine. 383 (25): 2427–2438. doi:10.1056/NEJMoa2028436. PMC 7556339. PMID 32991794.
10. ^ Mahase E (December 2020). "Covid-19: Oxford vaccine could be 59% effective against asymptomatic infections, analysis shows". BMJ. 371: m4777. doi:10.1136/bmj.m4777. PMID 33298405.
11. ^ Perego E, Callard F, Stras L, Melville-Jóhannesson B, Pope R, Alwan NA (1 October 2020). "Why we need to keep using the patient made term "Long Covid"". The BMJ. Retrieved 18 October 2020.
12. ^ Callard F, Perego E (January 2021). "How and why patients made Long Covid". Social Science & Medicine. 268: 113426. doi:10.1016/j.socscimed.2020.113426. PMC 7539940. PMID 33199035.
13. ^ a b Komaroff A (15 October 2020). "The tragedy of the post-COVID "long haulers"". Harvard Health. Harvard Health Publishing, Harvard Medical School. Retrieved 18 October 2020.
14. ^ Marshall M (September 2020). "The lasting misery of coronavirus long-haulers". Nature. 585 (7825): 339–341. doi:10.1038/d41586-020-02598-6. PMID 32929257. S2CID 221723168.
15. ^ a b "COVID-19 (coronavirus): Long-term effects". Mayo Clinic. 18 August 2020. Retrieved 19 October 2020.
16. ^ a b "What are the long-term health risks following COVID-19?". NewsGP. Royal Australian College of General Practitioners (RACGP). 24 June 2020. Retrieved 19 October 2020.
17. ^ Carfì A, Bernabei R, Landi F (August 2020). "Persistent Symptoms in Patients After Acute COVID-19". JAMA. 324 (6): 603–605. doi:10.1001/jama.2020.12603. PMC 7349096. PMID 32644129. Retrieved 19 October 2020.
18. ^ a b c d e Brodin, Petter (January 2021). "Immune determinants of COVID-19 disease presentation and severity". Nature Medicine. 27 (1): 28–33. doi:10.1038/s41591-020-01202-8. ISSN 1546-170X.
19. ^ a b "Context | COVID-19 rapid guideline: managing the long-term effects of COVID-19". National Institute for Health and Care Excellence. 18 December 2020. Retrieved 18 December 2020.
20. ^ a b c d "Living with Covid19. A dynamic review of the evidence around ongoing covid-19 symptoms (often called long covid)". National Institute for Health Research. 15 October 2020. doi:10.3310/themedreview_41169. Archived (PDF) from the original on 18 October 2020.
21. ^ Nordvig AS, Rimmer KT, Willey JZ, Thakur KT, Boehme AK, Vargas WS, Smith CJ, Elkind MS (29 June 2020). "Potential neurological manifestations of COVID-19". Neurology: Clinical Practice: 10.1212/CPJ.0000000000000897. doi:10.1212/CPJ.0000000000000897. ISSN 2163-0402. Retrieved 27 December 2020.
22. ^ a b Servick K (8 April 2020). "For survivors of severe COVID-19, beating the virus is just the beginning". Science. doi:10.1126/science.abc1486. ISSN 0036-8075.
23. ^ Tanner C (12 August 2020). "All we know so far about 'long haul' Covid – estimated to affect 600,000 people in the UK". inews. Retrieved 19 October 2020. "i spoke to Professor Tim Spector of King's College London who developed the Covid-19 tracker app"
24. ^ a b Ludvigsson JF (November 2020). "Case report and systematic review suggest that children may experience similar long-term effects to adults after clinical COVID-19". Acta Paediatrica. doi:10.1111/apa.15673. PMC 7753397. PMID 33205450.
25. ^ Simpson F, Lokugamage A (16 October 2020). "Counting long covid in children". The BMJ. Retrieved 18 October 2020.
26. ^ a b Fitzgerald B (14 October 2020). "Long-haul COVID-19 patients will need special treatment and extra support, according to new guide for GPs". ABC News. Australian Broadcasting Corporation). Retrieved 19 October 2020.
27. ^ Ross JM, Seiler J, Meisner J, Tolentino L (1 September 2020). "Summary of COVID-19 Long Term Health Effects: Emerging evidence and Ongoing Investigation" (PDF). University of Washington. Retrieved 15 October 2020.
28. ^ "How long does COVID-19 last?". UK COVID Symptom Study. 6 June 2020. Retrieved 15 October 2020.
29. ^ Boseley, Sarah (8 September 2020). "Coronavirus: 60,000 may have 'long Covid' for more than three months – UK study". The Guardian. Retrieved 28 December 2020.
30. ^ Davis, Nicola (16 December 2020). "Long Covid alarm as 21% report symptoms after five weeks". The Guardian. Retrieved 28 December 2020.
31. ^ a b c Herman, Joanna (27 December 2020). "I'm a consultant in infectious diseases. 'Long Covid' is anything but a mild illness". The Guardian. Retrieved 28 December 2020.
32. ^ "Chinese study finds most patients show signs of 'long Covid' six months on". South China Morning Post. 10 January 2021. Retrieved 11 January 2021.
33. ^ Huang, Chaolin; Huang, Lixue; et al. (8 January 2021). "6-month consequences of COVID-19 in patients discharged from hospital: a cohort study". The Lancet. 0 (0). doi:10.1016/S0140-6736(20)32656-8. ISSN 0140-6736. Retrieved 11 January 2021.
34. ^ Mahase E (October 2020). "Long covid could be four different syndromes, review suggests". BMJ. 371: m3981. doi:10.1136/bmj.m3981. PMID 33055076. S2CID 222348080. Lay summary – BBC News (15 October 2020).
35. ^ Taquet M, Luciano S, Geddes JR, Harrison PJ (November 2020). "Bidirectional associations between COVID-19 and psychiatric disorder: retrospective cohort studies of 62 354 COVID-19 cases in the USA". The Lancet. Psychiatry: S2215036620304624. doi:10.1016/S2215-0366(20)30462-4. PMID 33181098.
36. ^ Gallagher J (21 October 2020). "Long Covid: Who is more likely to get it?". BBC. Retrieved 21 October 2020.
37. ^ "New research identifies those most at risk from 'long COVID'". King's College London. 21 October 2020. Retrieved 22 October 2020.
38. ^ Cookson C (15 October 2020). "'Long Covid' symptoms can last for months". Financial Times. Retrieved 15 October 2020.
39. ^ a b Greenhalgh, Trisha (21 September 2020). "Covid-19: An open letter to the UK's chief medical officers". The BMJ. Retrieved 19 October 2020.
40. ^ "NHS to offer 'long covid' sufferers help at specialist centres". NHS England. 7 October 2020. Retrieved 19 October 2020.
41. ^ "Your COVID Recovery". Your COVID Recovery. Retrieved 19 October 2020.
42. ^ "UCLH opens second 'long Covid' clinic for patients with neurological complications". University College London NHS Foundation Trust. Retrieved 19 December 2020.
43. ^ "NICE, RCGP and SIGN publish guideline on managing the long-term effects of COVID-19". NICE. 18 December 2020. Retrieved 28 December 2020.
44. ^ Blazonis, Sarah (27 November 2020). "Facebook Group Created by Tampa Man Aims to Connect COVID-19 Long Haulers". www.baynews9.com. Retrieved 29 November 2020.
45. ^ a b Witvliet, Margot Gage (27 November 2020). "Here's how it feels when COVID-19 symptoms last for months". PBS NewsHour. Retrieved 29 November 2020.
46. ^ Yelin D, Wirtheim E, Vetter P, Kalil AC, Bruchfeld J, Runold M, et al. (October 2020). "Long-term consequences of COVID-19: research needs". The Lancet. Infectious Diseases. 20 (10): 1115–1117. doi:10.1016/S1473-3099(20)30701-5. PMC 7462626. PMID 32888409. Retrieved 19 October 2020.
47. ^ "Chinese study finds most patients show signs of 'long Covid' six months on". South China Morning Post. 10 January 2021. Retrieved 11 January 2021.
## Further reading[edit]
* Davis N (1 May 2020). "Lingering and painful: the long and unclear road to coronavirus recovery". The Guardian. ISSN 0261-3077. Retrieved 18 October 2020.
* Harding L (15 May 2020). "'Weird as hell': the Covid-19 patients who have symptoms for months". The Guardian. ISSN 0261-3077. Retrieved 18 October 2020.
* Tanner C (21 May 2020). "The people who can't shake off Covid-19 – 'Week nine and I'm back in bed'". i News. Retrieved 18 October 2020.
* "Major study into long-term health effects of COVID-19 launched in the UK". National Institute for Health Research. Retrieved 18 October 2020.
* Salisbury H (June 2020). "Helen Salisbury: When will we be well again?". BMJ. 369: m2490. doi:10.1136/bmj.m2490. PMID 32576550. S2CID 219983336.
* Keay L (25 June 2020). "Long-term COVID warning: ICU doctor reports having coronavirus symptoms for three months". Sky News. Retrieved 18 October 2020.
* Nordvig AS, Rimmer KT, Willey JZ, Thakur KT, Boehme AK, Vargas WS, Smith CJ, Elkind MS (29 June 2020). "Potential neurological manifestations of COVID-19". Neurology: Clinical Practice: 10.1212/CPJ.0000000000000897. doi:10.1212/CPJ.0000000000000897.
* "Scottish universities join Covid-19 long-term health impact study". BBC News. 5 July 2020. Retrieved 18 October 2020.
* "Major study will form basis for Covid-19 rehabilitation services, says DHSC". Pulse Today. 6 July 2020. Retrieved 18 October 2020.
* Wise J (July 2020). "GPs call for cut in red tape to manage aftermath of covid-19". BMJ. 370: m2729. doi:10.1136/bmj.m2729. PMID 32636191. S2CID 220383533.
* Kleinman Z (7 July 2020). "Coronavirus: Thousands say debilitating symptoms last 'for weeks'". BBC News. Retrieved 18 October 2020.
* Paterson RW, Brown RL, Benjamin L, Nortley R, Wiethoff S, Bharucha T, et al. (July 2020). "The emerging spectrum of COVID-19 neurology: clinical, radiological and laboratory findings". Brain. 143 (10): 3104–3120. doi:10.1093/brain/awaa240. PMC 7454352. PMID 32637987.
* Mahase E (July 2020). "Covid-19: What do we know about "long covid"?". BMJ. 370: m2815. doi:10.1136/bmj.m2815. PMID 32665317. S2CID 220497261.
* Prior R (19 July 2020). "Can't shake Covid-19: Warnings from young survivors still suffering". CNN. Retrieved 18 October 2020.
* Smith-Spark L, Shelley J, Borghese L (21 July 2020). "Brain fog, fatigue, breathlessness. Rehab centers set up across Europe to treat long-term effects of coronavirus". CNN. Retrieved 18 October 2020.
* Alwan NA (28 July 2020). "What exactly is mild covid-19?". The BMJ. Retrieved 18 October 2020.
* Davis H (5 August 2020). "Brain fog, phantom smells and tinnitus: my 4 months (and counting) of Covid-19". The Guardian. Retrieved 18 October 2020.
* "Can coronavirus damage 'last for life'?". The Week UK. 6 August 2020. Retrieved 18 October 2020.
* Alwan NA (August 2020). "Track COVID-19 sickness, not just positive tests and deaths". Nature. 584 (7820): 170. doi:10.1038/d41586-020-02335-z. PMID 32782377. S2CID 221107554.
* Tom B (13 August 2020). "Half of patients suffering with 'long Covid' and symptoms four months after leaving hospital". i News. Retrieved 18 October 2020.
* Morgan E (19 August 2020). "Coronavirus: How do you cure those suffering with long Covid?". ITV News. Retrieved 18 October 2020.
* Stamataki Z (19 August 2020). "Is anyone safe from Covid-19? This is what we know so far about immunity | Zania Stamataki". The Guardian. ISSN 0261-3077. Retrieved 18 October 2020.
* Knapton S (20 August 2020). "'Long Covid' is real and patients suffer debilitating symptoms for months, experts say". The Telegraph. ISSN 0307-1235. Retrieved 18 October 2020.
* Gallagher S (20 August 2020). "What is long Covid and why are people having symptoms for months?". The Independent. Retrieved 18 October 2020.
* Woodcock A (25 August 2020). "Boris Johnson denies claim he could quit as prime minister over coronavirus-related health issues". The Independent. Retrieved 18 October 2020.
* Lynch P, Manning J (27 August 2020). "UK flu jab rates prompt complacency warning". BBC News. Retrieved 18 October 2020.
* Nabavi N (September 2020). "Long covid: How to define it and how to manage it". BMJ. 370: m3489. doi:10.1136/bmj.m3489. PMID 32895219. S2CID 221520739.
* Clifton H, Deith J (8 September 2020). "Coronavirus: 'Long Covid' patients need treatment programme, doctors say". BBC News. Retrieved 18 October 2020.
* Wood V (8 September 2020). "60,000 ill with coronavirus for three months or more, professor says". The Independent. Retrieved 18 October 2020.
* Tapper J (13 September 2020). "I was infected with coronavirus in March, six months on I'm still unwell". The Observer. ISSN 0029-7712. Retrieved 18 October 2020.
* "Coronavirus patient unable to work six months on". BBC News. 14 September 2020. Retrieved 18 October 2020.
* Davis N (24 September 2020). "UK coronavirus: record 6,634 new cases reported; chancellor announces job support scheme – as it happened". The Guardian. ISSN 0261-3077. Retrieved 18 October 2020.
* Pandey V (27 September 2020). "Why India should worry about post-Covid-19 care". BBC News. Retrieved 18 October 2020.
* "People could suffer impact of having Covid for years, professor warns". ITV News. 27 September 2020. Retrieved 18 October 2020.
* Triggle N (28 September 2020). "Covid: Is it time we learned to live with the virus?". BBC News. Retrieved 18 October 2020.
* Rutherford A (29 September 2020). "Long Covid". BBC Radio 4. Retrieved 18 October 2020.
* Morris N (29 September 2020). "Boris Johnson dismisses long Covid health rumours, saying he's 'fitter than a butcher's dog'". i News. Retrieved 18 October 2020.
* Perego E, Callard F, Stras L, Melville-Jóhannesson B, Pope R, Alwan NA (1 October 2020). "Why we need to keep using the patient made term "Long Covid"". The BMJ. Retrieved 18 October 2020.
* Cox D (4 October 2020). "Long Covid: the evidence of lingering heart damage". The Observer. ISSN 0029-7712. Retrieved 18 October 2020.
* "NICE & SIGN announce latest rapid Covid-19 guideline will address Long Covid". National Institute for Health and Care Excellence. 5 October 2020. Retrieved 18 October 2020.
* Gallagher, James (5 October 2020). "'Long Covid': Why are some people not recovering?". BBC News. Retrieved 18 October 2020.
* "NHS to offer 'long covid' sufferers help at specialist centres". NHS England. 7 October 2020. Retrieved 18 October 2020.
* "Long COVID: let patients help define long-lasting COVID symptoms". Nature. 586 (7828): 170. October 2020. doi:10.1038/d41586-020-02796-2. PMID 33029005. S2CID 222217022.
* "Coronavirus: Specialist 'long Covid' clinics to be set up in England". BBC News. 7 October 2020. Retrieved 18 October 2020.
* Tanner C (7 October 2020). "I used to run marathons but long Covid has left me feeling like a weak 90-year-old". i News. Retrieved 18 October 2020.
* Stone J (6 October 2020). "Boris Johnson says claims he is suffering from long Covid are 'seditious propaganda'". The Independent. Retrieved 18 October 2020.
* Kingstone T, Taylor AK, O'Donnell CA, Atherton H, Blane DN, Chew-Graham CA (October 2020). "Finding the 'right' GP: a qualitative study of the experiences of people with long-COVID". BJGP Open. Royal College of General Practitioners. 4 (5): bjgpopen20X101143. doi:10.3399/bjgpopen20X101143. PMID 33051223. S2CID 222351478.
* Lintern S (14 October 2020). "The NHS is not ready to tackle the debilitating effects of 'long Covid'". The Independent. Retrieved 18 October 2020.
* Alwan NA, Burgess RA, Ashworth S, Beale R, Bhadelia N, Bogaert D, et al. (October 2020). "Scientific consensus on the COVID-19 pandemic: we need to act now". Lancet. 396 (10260): e71–e72. doi:10.1016/s0140-6736(20)32153-x. PMC 7557300. PMID 33069277. S2CID 222348171.
* Barrett J (15 October 2020). "Long COVID: Just how common is it?". BBC Science Focus Magazine. Retrieved 18 October 2020.
* Deith J (15 October 2020). "Scientists probe possible DNA link to 'Long Covid'". Channel 4 News. Retrieved 18 October 2020.
* Culbertson A. "Long COVID: The debilitating after-effects of coronavirus". Sky News. Retrieved 18 October 2020.
* Hutchison C (16 October 2020). "Coronavirus Scotland: Long Covid sufferers terrified they 'won't get their lives back'". The Herald. Retrieved 18 October 2020.
* Ducharme, Jamie (16 October 2020). "Studying Long-Haul Coronavirus Could Bring Benefits—and Recognition—to Forgotten Patients". Time.
* Mitchell, Natasha (22 October 2020). "COVID-19 effects can be persistent and serious say doctors suffering 'long COVID'". ABC News. Australian Broadcasting Corporation.
* "These doctors got COVID-19, now they're suffering the serious, mysterious symptoms of 'long COVID'". ABC Radio National. Science Friction. 18 October 2020. With guests Dr Ian Frayling (Ireland), Dr Nathalie Macdermott (Great Ormond Street), and Dr Nathalie Macdermott (Scotland).
* Yong, Ed (19 August 2020). "Long-Haulers Are Redefining COVID-19". The Atlantic.
* Perego, Elisa; et al. (1 October 2020). "Why we need to keep using the patient made term "Long Covid"". The BMJ Opinion.
* Lutz, Jennifer; Carmona, Richard (27 December 2020). "America's healthcare system will struggle to deal with Covid 'long-haulers'". The Guardian.
## External links[edit]
* Living with COVID-19 review, UK National Institute for Health Research (October 2020)
* Long Covid, UK Government film about long COVID
* Summary of COVID-19 Long Term Health Effects: Emerging evidence and Ongoing Investigation, University of Washington, Sep 2020
* Post-hospitalisation COVID-19 study (PHOSP-COVID) by the University of Leicester
* LongCovid.org – The Long COVID Support Group
* LongCovidSOS – A public campaign in the UK to raise awareness about the problem
* v
* t
* e
COVID-19 pandemic
* SARS-CoV-2 (virus)
* COVID-19 (disease)
Timeline
* Pre-pandemic
* Crimson Contagion
* Disease X
* Event 201
* Exercise Cygnus
* 2019
* 2020
* January
* February
* responses
* March
* responses
* April
* responses
* May
* responses
* June
* responses
* July
* responses
* August
* responses
* September
* responses
* October
* responses
* November
* responses
* December
* responses
* 2021
* January
Locations
Africa
Northern
* Algeria
* Canary Islands
* Ceuta
* Egypt
* Libya
* Mauritania
* Melilla
* Morocco
* Sudan
* Tunisia
* Western Sahara
* Sahrawi Arab Democratic Republic
Eastern
* Burundi
* Comoros
* Djibouti
* Eritrea
* Ethiopia
* Kenya
* Madagascar
* Mauritius
* Mayotte
* Réunion
* Rwanda
* Seychelles
* Somalia
* Puntland
* Somaliland
* South Sudan
* Tanzania
* Uganda
Southern
* Angola
* Botswana
* Eswatini
* Lesotho
* Malawi
* Mozambique
* Namibia
* South Africa
* Zambia
* Zimbabwe
Central
* Cameroon
* Central African Republic
* Chad
* Democratic Republic of the Congo
* Republic of the Congo
* Gabon
* São Tomé and Príncipe
Western
* Benin
* Burkina Faso
* Cape Verde
* Equatorial Guinea
* Gambia
* Ghana
* timeline
* Guinea
* Guinea-Bissau
* Ivory Coast
* Liberia
* Mali
* Niger
* Nigeria
* Senegal
* Sierra Leone
* Togo
Asia
Central / North
* Kazakhstan
* Kyrgyzstan
* Russia
* timeline
* Tajikistan
* Turkmenistan
* Uzbekistan
East
* Hong Kong
* Japan
* timeline
* North Korea
* South Korea
* Macau
* Mongolia
* Taiwan
China
* Beijing
* Heilongjiang
* Henan
* Hubei
* lockdown
* Inner Mongolia
* Liaoning
* Shanghai
* Sichuan
* Tibet
* Xinjiang
South
* Afghanistan
* timeline
* Bangladesh
* Bhutan
* Maldives
* Nepal
* timeline
* Pakistan
* timeline
* Sri Lanka
India
* timeline
* January–May 2020
* June–December 2020
* economic impact
* evacuations
* lockdown
* migrant workers' crisis
* union government response
* Operation Namaste
* state government responses)
* Andaman and Nicobar Islands
* Andhra Pradesh
* Arunachal Pradesh
* Assam
* Bihar
* Chandigarh
* Chhattisgarh
* Dadra and Nagar Haveli and Daman and Diu
* Delhi
* Tablighi Jamaat hotspot
* Goa
* Gujarat
* Haryana
* Himachal Pradesh
* Jammu and Kashmir
* Jharkhand
* Karnataka
* Kerala
* Ladakh
* Madhya Pradesh
* Maharashtra
* Manipur
* Meghalaya
* Mizoram
* Nagaland
* Odisha
* Puducherry
* Punjab
* Rajasthan
* Sikkim
* Tamil Nadu
* Telangana
* Tripura
* Uttar Pradesh
* Uttarakhand
* West Bengal
Southeast
* Brunei
* Cambodia
* East Timor
* Indonesia
* timeline
* social restrictions
* Laos
* Malaysia
* timeline
* movement control order
* Johor
* Kuala Lumpur
* Sabah
* Sarawak
* Selangor
* Myanmar
* Singapore
* timeline
* circuit breaker response
* Thailand
* timeline
* Vietnam
* timeline
Philippines
* (timeline
* government response
* community quarantines
* Luzon
* evacuations
* testing controversy)
* Bangsamoro
* Bicol Region
* Cagayan Valley
* Calabarzon
* Caraga
* Central Luzon
* Central Visayas
* Cordillera
* Davao Region
* Eastern Visayas
* Ilocos Region
* Metro Manila
* Mimaropa
* Northern Mindanao
* Soccsksargen
* Western Visayas
* Zamboanga Peninsula
* Overseas Filipinos
West
* Armenia
* Azerbaijan
* Artsakh
* Bahrain
* Georgia
* Abkhazia
* South Ossetia
* Iran
* Iraq
* Kurdistan
* Israel
* Jordan
* Kuwait
* Lebanon
* Oman
* Palestine
* Qatar
* Saudi Arabia
* Syria
* Turkey
* timeline
* United Arab Emirates
* Yemen
Europe
United Kingdom
* * timeline
* January–June 2020
* July–December 2020
* 2021
* government response
* social impact
* economic impact
* education impact
* Operation Rescript
* England
* 2020 timeline
* 2021 timeline
* London
* Northern Ireland
* 2020 timeline
* 2021 timeline
* Scotland
* 2020 timeline
* 2021 timeline
* Wales
* 2020 timeline
* 2021 timeline
* Crown dependencies
* Isle of Man
* Jersey
* Guernsey
* Overseas territories
* Akrotiri and Dhekelia
* Gibraltar
* response
Eastern
* Armenia
* Azerbaijan
* Belarus
* Georgia
* Kazakhstan
* Moldova
* Gagauzia
* Transnistria
* Russia
* timeline
* government responses
* Crimea
* Sevastopol
* Ukraine
* Crimea
* Sevastopol
* Donetsk
* Luhansk
Balkans
* Albania
* Bosnia and Herzegovina
* Kosovo
* Montenegro
* North Macedonia
* Serbia
* Turkey
* timeline
Microstates
* Andorra
* San Marino
* Vatican City
* Monaco
European Union
EFTA countries
* Austria
* Belgium
* Bulgaria
* Croatia
* timeline
* Cyprus
* Northern Cyprus
* Czech Republic
* Denmark
* Faroe Islands
* Estonia
* Finland
* Åland Islands
* France
* Guadeloupe
* French Guiana
* Réunion
* Martinique
* Mayotte
* Saint Martin
* Germany
* North Rhine-Westphalia
* Greece
* Hungary
* Iceland
* Ireland
* timeline
* January–June 2020
* July–December 2020
* economic impact
* social impact
* Italy
* lockdown
* Latvia
* Liechtenstein
* Lithuania
* Luxembourg
* Malta
* Netherlands
* Norway
* Poland
* Portugal
* Romania
* timeline
* Piatra Neamț hospital fire
* Slovakia
* Slovenia
* Spain
* timeline
* Asturias
* Canary Islands
* Ceuta
* Community of Madrid
* Melilla
* Sweden
* timeline
* government response
* Switzerland
North America
Mexico
* timeline
Central America
* Belize
* Costa Rica
* El Salvador
* Guatemala
* Honduras
* Nicaragua
* Panama
Canada
* * timeline
* economic impact
* Alberta
* British Columbia
* Manitoba
* New Brunswick
* Newfoundland and Labrador
* Northwest Territories
* Nova Scotia
* Nunavut
* Ontario
* timeline
* Peel Region
* Toronto
* Prince Edward Island
* Quebec
* Montreal
* Saskatchewan
* Yukon
Caribbean
* Antigua and Barbuda
* Bahamas
* Barbados
* British Overseas Territories
* Anguilla
* British Virgin Islands
* Cayman Islands
* Montserrat
* Turks and Caicos Islands
* response
* Cuba
* Guantanamo Bay Naval Base
* Dominica
* Dominican Republic
* Dutch Caribbean
* Aruba
* Curaçao
* Sint Maarten
* Caribbean Netherlands
* Bonaire
* Saba
* Sint Eustatius
* French West Indies
* Guadeloupe
* Martinique
* Saint Barthélemy
* Saint Martin
* Grenada
* Haiti
* Jamaica
* Saint Kitts and Nevis
* Saint Lucia
* Saint Vincent and the Grenadines
* Trinidad and Tobago
* US insular areas
* Puerto Rico
* U.S. Virgin Islands
United States
* * timeline
* social impact
* economic impact
* federal government response
* state and local government responses
* Regional responses
* Eastern States Multi-state Council
* Midwest Governors Regional Pact
* Western States Pact
* Trump administration communication
* Alabama
* Alaska
* American Samoa
* Arizona
* Navajo Nation
* Arkansas
* California
* timeline
* S.F. Bay Area
* Colorado
* Connecticut
* Delaware
* Florida
* Georgia
* Guam
* Hawaii
* Idaho
* Illinois
* Indiana
* Iowa
* Kansas
* Kentucky
* Louisiana
* Maine
* Maryland
* Massachusetts
* timeline
* Boston
* timeline
* Michigan
* Minnesota
* Mississippi
* Missouri
* Montana
* Nebraska
* Nevada
* New Hampshire
* New Jersey
* New Mexico
* New York
* New York City
* North Carolina
* North Dakota
* Northern Mariana Islands
* Ohio
* impact
* Columbus
* Oklahoma
* Oregon
* Portland
* Pennsylvania
* Philadelphia
* Puerto Rico
* Rhode Island
* South Carolina
* South Dakota
* Tennessee
* Texas
* timeline
* U.S. Virgin Islands
* Utah
* Vermont
* Virginia
* Washington
* Washington, D.C.
* White House
* West Virginia
* Wisconsin
* statistics
* Wyoming
Atlantic
* Bermuda
* Greenland
* Saint Pierre and Miquelon
Oceania
* American Samoa
* Australia
* Easter Island
* Federated States of Micronesia
* Fiji
* French Polynesia
* Guam
* Hawaii
* Marshall Islands
* New Caledonia
* New Zealand
* timeline
* government response
* Northern Mariana Islands
* Papua New Guinea
* Bougainville
* Samoa
* Solomon Islands
* Vanuatu
* Wallis and Futuna
South America
* Argentina
* timeline
* human rights
* Bolivia
* Brazil
* São Paulo
* Chile
* Easter Island
* Colombia
* Ecuador
* Falkland Islands
* French Guiana
* Guyana
* Paraguay
* Peru
* Suriname
* Uruguay
* timeline
* Venezuela
Other
* Antarctica
* Cruise ships
* Diamond Princess
* Grand Princess
* Naval ships
* Charles de Gaulle
* USS Theodore Roosevelt
Impacts
Culture and
entertainment
* Arts and cultural heritage
* Cinema
* films affected
* Disney
* Education
* Ireland
* United Kingdom
* Events affected
* Fashion industry
* Music industry
* Performing arts
* Sports
* By country
* Ireland
* Philippines
* By sport
* association football
* cricket
* disc golf
* Gaelic games
* motorsport
* NBA
* rugby league
* Television
* U.S.
* programs affected
* Video games
Society
and rights
* Social
* social media
* stigma
* COVID-19 parties
* Children
* foster care in the United States
* Gender
* Healthcare workers
* Hospitals
* Human rights
* Legal
* abortion in the U.S.
* crime
* crime in Ireland
* domestic violence
* prisons
* U.S. immigration detention
* LGBT community
* Long-term care facilities
* Public transport
* Religion
* Catholic Church
* Hajj
* Strikes
* Xenophobia and racism
Economic
* Aviation
* Airlines
* Cannabis industry
* Charitable activity
* COVID-19 recession
* Financial markets
* Food industry
* meat industry in Canada
* meat industry in the U.S.
* restaurant industry in the U.S.
* Global stock market crash
* Hospitals
* Mink farming
* Oil price war
* Retail
* Tourism
* Travel restrictions
Information
* Journalism
* Media coverage
* Misinformation
* Wikipedia's response
Politics
* National responses
* Legislation
* Protests
* New Zealand
* Serbia
* United Kingdom
* United States
* International relations
* Aid
* European Union
* Ireland
Language
* Doomscrolling
* Flattening the curve
* Long-hauler
* Quarantini
* Social distancing
* Superspreader
* Zoom
Others
* Anthropause
* Environment
* Military
* Science and technology
* Food security
Health issues
Problems and
restrictions
* Transmission
* Death rates by country
* Cancer
* Evacuations
* Falsified medical methods
* Management
* Mental health
* Shortages
* medical oxygen
* ventilator
* open-source ventilator
* extracorporeal membrane oxygenation
* Raise the line
* COVID fatigue
* Non-COVID-19-related health issues
* Variants of SARS-CoV-2
Prevention
* Pandemic Severity Assessment Framework
* Public Health Emergency of International Concern
* Non-pharmaceutical intervention
* Great Barrington Declaration
* Social distancing
* Measures
* Face masks
* United States
* N95
* Flattening the curve
* Disease testing
* breathalyzer
* Datasets
* Coronavirus apps
* careFIJI
* COVID Alert
* COVIDSafe
* COVID Tracker Ireland
* Coronavirus Australia
* Aarogya Setu
* NZ COVID Tracer
* TraceTogether
* BlueTrace
* Decentralized Privacy-Preserving Proximity Tracing
* NHS COVID-19
* Nearby Spot
* TCN Protocol
* Exposure Notification
* Workplace hazard controls
* Surveillance
* Lockdowns
* Immunity passports
* International aid
* Safe Hands Challenge
* Wastewater surveillance
Treatments
and research
* Pregnancy
* Treatment research
* Drug repurposing research
* Dexamethasone
* Drug development
* Vaccine research
* Ad5-nCoV
* AZD1222
* BBIBP-CorV
* CoronaVac
* Covaxin
* mRNA-1273
* RBD-Dimer
* Sputnik V
* Pfizer-BioNTech
* V451
* Operation Warp Speed (U.S.)
* RECOVERY Trial (UK)
* Solidarity trial (WHO)
Institutions
Hospitals and
related
* Hospital ships
* Central Hospital of Wuhan
* Dabie Mountain Regional Medical Centre
* Fangcang Hospitals
* Huoshenshan Hospital
* Wuhan Jinyintan Hospital
* Leishenshan Hospital
* Xinjia Express Hotel
* COVID-19 Hospital in Mumbai
* Kemayoran Athletes Village
* Malaysia Agro Exposition Park Serdang
* COVID-19 hospitals in the United Kingdom
* Canberra Coronavirus Field Hospital
* Hospital El Salvador
* Pyongyang General Hospital
* Sancaktepe Prof. Dr. Feriha Öz Emergency Hospital
* Yeşilköy Prof. Dr. Murat Dilmener Emergency Hospital
* We Heal As One Center
* Dragon's Heart Hospital
* NHS Nightingale Hospitals
* NHS Nightingale Hospital Birmingham
* NHS Nightingale Hospital London
* NHS Nightingale Hospital North East
* NHS Nightingale Hospital North West
* NHS Nightingale Hospital Yorkshire and the Humber
* NHS Louisa Jordan Hospital
* Kandakadu Treatment and Rehabilitation Centre
Organizations
* Coalition for Epidemic Preparedness Innovations
* World Health Organization
* United Nations
* resolutions
* International Committee on Taxonomy of Viruses
* Wuhan Institute of Virology (China)
* Central Epidemic Command Center (Taiwan)
* Taiwan Centers for Disease Control (Taiwan)
* COVID-19 Response Acceleration Task Force (Indonesia)
* White House Coronavirus Task Force (United States)
* Great American Economic Revival Industry Groups (United States)
* Coronavirus Tech Handbook
* Inter-Agency Task Force on Emerging Infectious Diseases (Philippines)
* PM CARES Fund (India)
* Artist Relief (United States)
* Covid Watch
* SAARC COVID-19 Emergency Fund (India)
* Outbreak Management Team (Netherlands)
* COVID-19 Solidarity Response Fund
* MusiCares COVID-19 Relief Fund
* Imperial College COVID-19 Response Team (UK)
* SAGE (UK)
* Independent SAGE (UK)
* National Cabinet (Australia)
* National COVID-19 Coordination Commission (Australia)
* UN COVID-19 Supply Chain Task Force (WHO)
* COVID-19 Supply Council (Canada)
* PREPARE (European Union)
* National Public Health Emergency Team (Ireland)
* Africa Centres for Disease Control and Prevention (African Union)
* Ghana Infectious Disease Centre (Ghana)
* COVID-19 Immunity Task Force (Canada)
* Novel Coronavirus Expert Meeting (Japan)
* Coronavirus Scientific Advisory Board (Turkey)
* Crisis Preparedness and Response Centre (Malaysia)
* Korea Disease Control and Prevention Agency (Korea)
People
Medical professionals
* Ai Fen
* Li Wenliang
* Liu Wen
* Corona Rintawan
* Xie Linka
* Zhang Wenhong
Researchers
* Roberto Burioni
* Awang Bulgiba Awang Mahmud
* Chen Wei
* Andrea Crisanti
* Christian Drosten
* Neil Ferguson
* George F. Gao
* Azra Ghani
* Sarah Gilbert
* Guan Yi
* Kentaro Iwata
* Trudie Lang
* Li Lanjuan
* W. Ian Lipkin
* Ma Xiaowei
* Allison McGeer
* Luc Montagnier
* Shi Zhengli
* Moncef Slaoui
* John Todd
* Wang Chen
* Wang Guangfa
* Yuen Kwok-yung
* Zeng Guang
* Zhong Nanshan
Officials
WHO
* Tedros Adhanom (Director-General of the WHO)
* Bruce Aylward (Team lead of WHO-China COVID-19 mission)
* Maria Van Kerkhove (Technical Lead for COVID-19 response)
* Michael J. Ryan (Executive Director of the WHO Health Emergencies Programme)
Countries
* Alma Möller (Iceland)
* Domenico Arcuri (Italy)
* Frank Atherton (Wales)
* Scott Atlas (United States)
* Deborah Birx (United States)
* Ashley Bloomfield (New Zealand)
* Angelo Borrelli (Italy)
* Catherine Calderwood (Scotland)
* Carmen Deseda (Puerto Rico)
* Jaap van Dissel (the Netherlands)
* Shan-chwen Chang (Taiwan)
* Chen Shih-chung (Taiwan)
* Chuang Yin-ching (Taiwan)
* Francisco Duque (Philippines)
* Anthony Fauci (United States)
* Graça Freitas (Portugal)
* Hamad Hasan (Lebanon)
* Tony Holohan (Ireland)
* Jeong Eun-kyeong (South Korea)
* Fahrettin Koca (Turkey)
* Li Keqiang (China)
* Michael McBride (Northern Ireland)
* Oriol Mitjà (Andorra)
* Doni Monardo (Indonesia)
* Noor Hisham Abdullah (Malaysia)
* Ali Pilli (Northern Cyprus)
* Jérôme Salomon (France)
* Fernando Simón (Spain)
* Gregor Smith (Scotland)
* Ih-Jen Su (Taiwan)
* Łukasz Szumowski (Poland)
* Theresa Tam (Canada)
* Nelu Tătaru (Romania)
* Anders Tegnell (Sweden)
* Sotiris Tsiodras (Greece)
* Víðir Reynisson (Iceland)
* Carla Vizzotti (Argentina)
* Chris Whitty (United Kingdom)
* Lawrence Wong (Singapore)
* Þórólfur Guðnason (Iceland)
Others
* Chen Qiushi
* Brett Crozier
* Fang Bin
* Fang Fang
* Li Zehua
* Qiu Menghuang
* Ren Zhiqiang
* Captain Tom
Deaths
List
Data (templates)
Global
* Cases, deaths, recoveries by country
* Tests, cases, tests per capita, cases per capita by country
* Tests, cases, tests per capita, cases per capita by country subdivision
* WHO situation reports
* cases
* deaths
* World map by countries: confirmed per capita
* China
* Hospital beds by country
* Lockdowns
* Mainland China
Africa
* Algeria
* chart
* Angola
* chart
* Burkina Faso
* chart
* Burundi
* chart
* Cameroon
* chart
* Egypt
* chart
* Eswatini
* chart
* Ethiopia
* chart
* Ghana
* chart
* Ivory Coast
* chart
* Kenya
* chart
* Libya
* chart
* Malawi
* chart
* Mali
* chart
* Mauritania
* chart
* Mauritius
* chart
* Morocco
* chart
* Nigeria
* chart
* Senegal
* chart
* Sierra Leone
* chart
* South Africa
* chart
* South Sudan
* chart
* Sudan
* chart
* Tanzania
* chart
* Togo
* chart
* Tunisia
* chart
Americas
* Argentina
* chart
* Bolivia
* chart
* Brazil
* chart
* Canada
* by province
* chart
* Chile
* by commune
* chart
* Colombia
* chart
* Costa Rica
* chart
* Cuba
* chart
* Dominican Republic
* chart
* Ecuador
* chart
* El Salvador
* chart
* Guatemala
* chart
* Haiti
* chart
* Honduras
* chart
* Mexico
* chart
* Nicaragua
* chart
* Panama
* chart
* Paraguay
* chart
* Peru
* chart
* United States
* by state
* chart
* Uruguay
* chart
* Venezuela
* chart
Asia
* Afghanistan
* chart
* Armenia
* chart
* Azerbaijan
* chart
* Bahrain
* chart
* Bangladesh
* chart
* Bhutan
* chart
* summary
* Brunei
* chart
* Cambodia
* chart
* summary
* Mainland China
* aggregate
* chart
* Georgia
* chart
* Hong Kong
* chart
* India
* chart
* summary
* Indonesia
* chart
* Iran
* chart
* Iraq
* chart
* Israel
* chart
* Japan
* chart
* Jordan
* chart
* Kazakhstan
* chart
* South Korea
* chart
* Kuwait
* graph
* chart
* Kyrgyzstan
* chart
* Laos
* chart
* Lebanon
* chart
* Malaysia
* chart
* Myanmar
* chart
* Nepal
* chart
* by district
* PCR tests
* Oman
* chart
* Pakistan
* chart
* Palestine
* chart
* Philippines
* chart
* areas of quarantine
* Qatar
* chart
* Russia/North Asia
* by federal subject
* chart
* Saudi Arabia
* chart
* Singapore
* chart
* Sri Lanka
* chart
* Syria
* chart
* Taiwan
* chart
* Tajikistan
* chart
* Thailand
* chart
* summary
* Turkey
* by province
* chart
* United Arab Emirates
* chart
* Uzbekistan
* chart
* Vietnam
* chart
* Yemen
* chart
Europe
(chart)
* Albania
* chart
* Austria
* chart
* Belarus
* chart
* Belgium
* chart
* Bosnia and Herzegovina
* chart
* Bulgaria
* chart
* Croatia
* chart
* Cyprus
* chart
* Czech Republic
* chart
* Denmark
* chart
* Estonia
* chart
* Faroe Islands
* chart
* Finland
* chart
* France
* chart
* Germany
* chart
* Greece
* chart
* Hungary
* chart
* Iceland
* chart
* Ireland
* chart
* Italy
* chart
* Kosovo
* chart
* Latvia
* chart
* Lithuania
* chart
* Luxembourg
* chart
* Malta
* chart
* Moldova
* chart
* Monaco
* chart
* Montenegro
* chart
* Netherlands
* chart
* North Macedonia
* chart
* Norway
* chart
* Poland
* chart
* Portugal
* chart
* Romania
* chart
* Russia
* by federal subject
* chart
* San Marino
* chart
* Serbia
* chart
* Slovakia
* by region
* chart
* Slovenia
* chart
* Spain
* chart
* Asturias
* Community of Madrid
* Sweden
* chart
* Switzerland
* chart
* Turkey
* by province
* chart
* Ukraine
* chart
* Donetsk People's Republic
* Luhansk People's Republic
* United Kingdom
* Scotland
* chart
* Vatican City
* chart
Oceania
* Australia
* chart
* by state/territory
* Fiji
* chart
* French Polynesia
* chart
* New Caledonia
* chart
* New Zealand
* chart
* Papua New Guinea
* chart
* Solomon Islands
* Solomon Islands
Others
* Cruise ships
* Diamond Princess
* Category
* Portal
* Coronavirus disease 2019 portal
* Medicine portal
* Viruses portal
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: Dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: Luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone-binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
*[FSH]: Follicle-stimulating hormone
*[HHAT]: hedgehog acyltransferase
*[Hh]: Hedgehog
*[ABS]: amniotic band syndrome
| Long COVID | None | 30,295 | wikipedia | https://en.wikipedia.org/wiki/Long_COVID | 2021-01-18T18:51:55 | {"wikidata": ["Q100732653"]} |
A form of oculocutaneous albinism (OCA) characterized by skin and hair hypopigmentation (light blond to dark brown), nystagmus, iris transillumination, visual acuity ranging from 6/9 to 3/60 and hypopigmentation of the peripheral ocular fundus. Photophobia is not a major feature.
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: Dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: Luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone-binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
*[FSH]: Follicle-stimulating hormone
*[HHAT]: hedgehog acyltransferase
*[Hh]: Hedgehog
*[ABS]: amniotic band syndrome
| Oculocutaneous albinism type 7 | c3808786 | 30,296 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=352745 | 2021-01-23T18:27:50 | {"omim": ["615179"], "icd-10": ["E70.3"], "synonyms": ["OCA7"]} |
## Clinical Features
Van Steensel et al. (2001) described a 4-generation Dutch kindred with 27 individuals, 14 of whom were affected in a pattern that was consistent with autosomal dominant inheritance. The proposita was evaluated at 35 years of age and presented with unruly, brittle hair with premature hair loss, sparse eyebrows and eyelashes, hypohidrosis, partial loss of teeth due to extensive caries, thickening of the nails and keratoderma of the hands and feet, frontal bossing, and malar hypoplasia. Her general health was good. Other family members were evaluated and all of these features were present in variable degrees in 13 other affected individuals. Scanning electron microscopy revealed several abnormalities, the most prominent of which were a marked variation in diameter and multiple torsions of hair shafts. Many hairs showed longitudinal grooves and an absent cuticle. Cross-sections were oval to triangular. Some hairs showed unusual torsions with grooves, which appeared to run across the torsions. Van Steensel et al. (2001) proposed the name 'curly hair-acral keratoderma-caries syndrome' (CHACS) in view of the most obvious abnormalities.
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: Dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: Luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone-binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
*[FSH]: Follicle-stimulating hormone
*[HHAT]: hedgehog acyltransferase
*[Hh]: Hedgehog
*[ABS]: amniotic band syndrome
| CURLY HAIR-ACRAL KERATODERMA-CARIES SYNDROME | c1843291 | 30,297 | omim | https://www.omim.org/entry/607656 | 2019-09-22T16:08:57 | {"mesh": ["C536220"], "omim": ["607656"], "orphanet": ["307766"], "synonyms": ["Alternative titles", "CHACS"]} |
A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by global developmental delay, intellectual disability, and dysmorphic facial features (such as facial asymmetry, prominent forehead, short palpebral fissures, low nasal bridge, smooth and long philtrum, thin upper lip, and low-set, posteriorly rotated, dysplastic ears), exclusively affecting females. Additional reported manifestations include short stature, choanal atresia, scoliosis, congenital ocular, dental, cardiac, and urogenital anomalies, as well as hypotonia, seizures, and structural brain abnormalities, among others.
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: Dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: Luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone-binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
*[FSH]: Follicle-stimulating hormone
*[HHAT]: hedgehog acyltransferase
*[Hh]: Hedgehog
*[ABS]: amniotic band syndrome
| X-linked female restricted facial dysmorphism-short stature-choanal atresia-intellectual disability | c4225416 | 30,298 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=480880 | 2021-01-23T19:11:45 | {"omim": ["300968"], "synonyms": ["X-linked facial dysmorphism-short stature-choanal atresia-intellectual disability syndrome limited to females"]} |
A number sign (#) is used with this entry because of evidence that hyperekplexia-2 (HKPX2) is caused by compound heterozygous or homozygous mutation in the GLRB gene (138492) on chromosome 4q32.
For a general phenotypic description and a discussion of genetic heterogeneity of hyperekplexia, see HKPX1 (149400).
Clinical Features
Rees et al. (2002) reported a male neonate who presented with generalized hypertonia and hyperreactivity 3 hours after birth. He had an exaggerated startle response and myoclonus elicited by testing the tendon reflexes or tapping on the back. Moro reflex was absent. Hyperreflexia and exaggerated startle response were noted until about 1 year of age, and then decreased somewhat. He had slightly delayed motor development, but normal mental development. By age 3 years, the phenotype had improved such that an abnormal startle response could only be invoked by tactile stimulus of the perioral region. He also had a hiatal hernia with gastroesophageal reflux.
Al-Owain et al. (2012) reported a large consanguineous Saudi Arabian kindred in which 9 individuals had hyperekplexia. All showed increased fetal movements and generalized stiffness at birth. The stiffness tended to ameliorate with age. Three patients had a positive reflex test, 2 of whom showed a positive glabellar test. Seven patients had esotropia. Two girls had social phobia and 1 boy had attention-deficit hyperactivity disorder. All had normal cognition, except 1 girl with seizures and a possible history of meningitis in infancy. The patients had a favorable response to clonazepam or vigabatrin, and 2 patients were able to stop treatment at ages 8 and 3 years, respectively.
Molecular Genetics
In a patient with hyperekplexia-2, Rees et al. (2002) identified compound heterozygosity for 2 mutations in the GLRB gene (138492.0001-138492.0002). Each unaffected parent was heterozygous for 1 of the mutations. Electrophysiologic studies showed reduced sensitivity to agonist-mediated activation of the alpha-1-beta (G229D) glycine receptor. The authors suggested that glycine receptor beta subunits may not be restricted to conferring modulatory influences and maintaining structural integrity, but may also play a functional role in human glycine receptor ligand binding.
Al-Owain et al. (2012) identified a homozygous missense mutation in the GLRB gene (M177R; 138492.0003) in 9 affected members of 3 branches of a large consanguineous Saudi Arabian kindred with hyperekplexia-2.
INHERITANCE \- Autosomal recessive HEAD & NECK Eyes \- Esotropia (1 family) \- Myopia (1 family) \- Astigmatism (1 family) NEUROLOGIC Central Nervous System \- Generalized stiffness at birth \- Exaggerated startle response \- Intermittent tonic stiffening \- Hyperreflexia \- Hyperreactivity \- Myoclonus \- Positive glabellar reflex test \- Mildly delayed motor development Behavioral Psychiatric Manifestations \- Phobias PRENATAL MANIFESTATIONS Movement \- Increased fetal movements MISCELLANEOUS \- Onset in infancy \- Tends to improve with age \- Favorable response to clonazepam MOLECULAR BASIS \- Caused by mutation in the glycine receptor, beta subunit gene (GLRB, 138492.0001 ). ▲ Close
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: Dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: Luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone-binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
*[FSH]: Follicle-stimulating hormone
*[HHAT]: hedgehog acyltransferase
*[Hh]: Hedgehog
*[ABS]: amniotic band syndrome
| HYPEREKPLEXIA 2 | c1835614 | 30,299 | omim | https://www.omim.org/entry/614619 | 2019-09-22T15:54:48 | {"doid": ["0060697"], "mesh": ["C538136"], "omim": ["614619"], "orphanet": ["3197"], "genereviews": ["NBK1260"]} |
Subsets and Splits
No community queries yet
The top public SQL queries from the community will appear here once available.