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Peroxisomal disorder
Basic structure of a peroxisome
SpecialtyMedical genetics
Peroxisomal disorders represent a class of medical conditions caused by defects in peroxisome functions.[1] This may be due to defects in single enzymes[2] important for peroxisome function or in peroxins, proteins encoded by PEX genes that are critical for normal peroxisome assembly and biogenesis.[3]
## Contents
* 1 Peroxisome biogenesis disorders
* 2 Enzyme and transporter defects
* 3 References
* 4 External links
## Peroxisome biogenesis disorders[edit]
Peroxisome biogenesis disorders (PBDs) include the Zellweger syndrome spectrum (PBD-ZSD) and rhizomelic chondrodysplasia punctata type 1 (RCDP1).[4][5] PBD-ZSD represents a continuum of disorders including infantile Refsum disease, neonatal adrenoleukodystrophy, and Zellweger syndrome. Collectively, PBDs are autosomal recessive developmental brain disorders that also result in skeletal and craniofacial dysmorphism, liver dysfunction, progressive sensorineural hearing loss, and retinopathy.[4][5]
PBD-ZSD is most commonly caused by mutations in the PEX1, PEX6, PEX10, PEX12, and PEX26 genes.[6][7] This results in the over-accumulation of very long chain fatty acids and branched chain fatty acids, such as phytanic acid. In addition, PBD-ZSD patients show deficient levels of plasmalogens, ether-phospholipids necessary for normal brain and lung function.
RCDP1 is caused by mutations in the PEX7 gene, which encodes the PTS2 receptor.[8] RCDP1 patients can develop large tissue stores of branched chain fatty acids, such as phytanic acid, and show reduced levels of plasmalogens.
Name OMIM Gene ICD-10
Zellweger syndrome 214100 PEX1, PEX2, PEX3, PEX5, PEX6, PEX12, PEX14, PEX26 Q87.82
Infantile Refsum disease 266510 PEX1, PEX2, PEX26 E80.3
Neonatal adrenoleukodystrophy 202370 PEX5, PEX1, PEX10, PEX13, PEX26 E71.331
RCDP Type 1 215100 PEX7 Q77.3
Heimler syndrome 234580 PEX1, PEX6
## Enzyme and transporter defects[edit]
Peroxisomal disorders also include:
Name OMIM Gene ICD-10 NA[9]
Pipecolic acidemia 600964 PHYH E80.301
Acatalasia 115500 CAT E80.310
Hyperoxaluria type 1 259900 AGXT E80.311
Acyl-CoA oxidase deficiency 264470 ACOX1 E80.313
D-bifunctional protein deficiency 261515 HSD17B4 E80.314
Dihydroxyacetonephosphate acyltransferase deficiency 222765 GNPAT E80.315
X-linked adrenoleukodystrophy 300100 ABCD1 E71.33
α-Methylacyl-CoA racemase deficiency 604489 AMACR
RCDP Type 2 222765 DHAPAT Q77.3
RCDP Type 3 600121 AGPS Q77.3
Adult Refsum disease-1 266500 PHYH G60.1
Mulibrey nanism 253250 TRIM37
## References[edit]
1. ^ Wanders, R. J. A.; Waterham, H. R. (2006). "Biochemistry of Mammalian Peroxisomes Revisited". Annual Review of Biochemistry. 75: 295–332. doi:10.1146/annurev.biochem.74.082803.133329. PMID 16756494.
2. ^ Wanders, R.; Waterham, H. (2006). "Peroxisomal disorders: the single peroxisomal enzyme deficiencies". Biochimica et Biophysica Acta (BBA) - Molecular Cell Research. 1763 (12): 1707–20. doi:10.1016/j.bbamcr.2006.08.010. PMID 17055078.
3. ^ Weller, S.; Gould, S. J.; Valle, D. (2003). "Peroxisome Biogenesis Disorders". Annual Review of Genomics and Human Genetics. 4: 165–211. doi:10.1146/annurev.genom.4.070802.110424. PMID 14527301.
4. ^ a b Steinberg, S.; Dodt, G.; Raymond, G.; Braverman, N.; Moser, A.; Moser, H. (2006). "Peroxisome biogenesis disorders". Biochimica et Biophysica Acta (BBA) - Molecular Cell Research. 1763 (12): 1733–48. doi:10.1016/j.bbamcr.2006.09.010. PMID 17055079.
5. ^ a b Steinberg, S.; Raymond, G.; Braverman, N.; Moser, A.; Pagon, H.; Adam, R.; Bird, T.; Dolan, C.; Fong, K.; Stephens, K. (1993). "Peroxisome Biogenesis Disorders, Zellweger Syndrome Spectrum". PMID 20301621. Cite journal requires `|journal=` (help)
6. ^ Steinberg, S.; Chen, L.; Wei, L.; Moser, A.; Moser, H.; Cutting, G.; Braverman, N. (2004). "The PEX Gene Screen: molecular diagnosis of peroxisome biogenesis disorders in the Zellweger syndrome spectrum". Molecular Genetics and Metabolism. 83 (3): 252–263. doi:10.1016/j.ymgme.2004.08.008. PMID 15542397.
7. ^ Yik, W. Y.; Steinberg, S. J.; Moser, A. B.; Moser, H. W.; Hacia, J. G. (2009). "Identification of novel mutations and sequence variation in the Zellweger syndrome spectrum of peroxisome biogenesis disorders". Human Mutation. 30 (3): E467–E480. doi:10.1002/humu.20932. PMC 2649967. PMID 19105186.
8. ^ Braverman, N.; Steel, G.; Obie, C.; Moser, A.; Moser, H.; Gould, S. J.; Valle, D. (1997). "Human PEX7 encodes the peroxisomal PTS2 receptor and is responsible for rhizomelic chondrodysplasia punctata". Nature Genetics. 15 (4): 369–376. doi:10.1038/ng0497-369. PMID 9090381.
9. ^ World Health Organization (7 December 1997). Application of the international classification of diseases to neurology: ICD-NA. World Health Organization. pp. 119–. ISBN 978-92-4-154502-0. Retrieved 23 November 2010.
## External links[edit]
Classification
D
* ICD-10: E80.3
* ICD-9-CM: 277.86
* MeSH: D018901
External resources
* eMedicine: neuro/309
* GeneReviews/NCBI/NIH/UW entry on Peroxisome Biogenesis Disorders, Zellweger Syndrome Spectrum
* Peroxisomal+disorders at the US National Library of Medicine Medical Subject Headings (MeSH)
* The Global Foundation for Peroxisomal Disorders
* v
* t
* e
Genetic disorder, organelle: Peroxisomal disorders and lysosomal structural disorders
Peroxisome biogenesis disorder
* Zellweger syndrome
* Neonatal adrenoleukodystrophy
* Infantile Refsum disease
* Adult Refsum disease-2
* RCP 1
Enzyme-related
* Acatalasia
* RCP 2&3
* Mevalonate kinase deficiency
* D-bifunctional protein deficiency
* Adult Refsum disease-1
Transporter-related
* X-linked adrenoleukodystrophy
Lysosomal
* Danon disease
See also: proteins, intermediates
*[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
| Peroxisomal disorder | c0282528 | 29,200 | wikipedia | https://en.wikipedia.org/wiki/Peroxisomal_disorder | 2021-01-18T18:37:43 | {"gard": ["8398"], "mesh": ["D018901"], "umls": ["C0282528"], "orphanet": ["68373"], "wikidata": ["Q3281322"]} |
A severe form of holoprosencephaly characterized by a single brain ventricle and no interhemispheric fissure. Severe craniofacial features may manifest as cyclopia, ethmocephaly or cebocephaly.
*[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
| Alobar holoprosencephaly | c0431363 | 29,201 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=93925 | 2021-01-23T17:56:03 | {"mesh": ["D016142"], "omim": ["157170", "301043", "609637", "610829"], "umls": ["C0431363"], "icd-10": ["Q04.2"]} |
Alzheimer disease is a degenerative disease of the brain that causes dementia, which is a gradual loss of memory, judgment, and ability to function. This disorder usually appears in people older than age 65, but less common forms of the disease appear earlier in adulthood.
Memory loss is the most common sign of Alzheimer disease. Forgetfulness may be subtle at first, but the loss of memory worsens over time until it interferes with most aspects of daily living. Even in familiar settings, a person with Alzheimer disease may get lost or become confused. Routine tasks such as preparing meals, doing laundry, and performing other household chores can be challenging. Additionally, it may become difficult to recognize people and name objects. Affected people increasingly require help with dressing, eating, and personal care.
As the disorder progresses, some people with Alzheimer disease experience personality and behavioral changes and have trouble interacting in a socially appropriate manner. Other common symptoms include agitation, restlessness, withdrawal, and loss of language skills. People with this disease usually require total care during the advanced stages of the disease.
Affected individuals usually survive 8 to 10 years after the appearance of symptoms, but the course of the disease can range from 1 to 25 years. Survival is usually shorter in individuals diagnosed after age 80 than in those diagnosed at a younger age. Death usually results from pneumonia, malnutrition, or general body wasting (inanition).
Alzheimer disease can be classified as early-onset or late-onset. The signs and symptoms of the early-onset form appear between a person's thirties and mid-sixties, while the late-onset form appears during or after a person's mid-sixties. The early-onset form is much less common than the late-onset form, accounting for less than 10 percent of all cases of Alzheimer disease.
## Frequency
Alzheimer disease currently affects more than 5 million Americans. Because the risk of developing Alzheimer disease increases with age and more people are living longer, the number of people with this disease is expected to increase significantly in coming decades.
## Causes
Some cases of early-onset Alzheimer disease are caused by gene mutations that can be passed from parent to child. This results in what is known as early-onset familial Alzheimer disease (FAD). Researchers have found that this form of the disorder can result from mutations in the APP, PSEN1, or PSEN2 genes. When any of these genes is altered, large amounts of a toxic protein fragment called amyloid beta peptide are produced in the brain. This peptide can build up in the brain to form clumps called amyloid plaques, which are characteristic of Alzheimer disease. A buildup of toxic amyloid beta peptide and amyloid plaques may lead to the death of nerve cells and the progressive signs and symptoms of this disorder. Other cases of early-onset Alzheimer disease may be associated with changes in different genes, some of which have not been identified.
Some evidence indicates that people with Down syndrome have an increased risk of developing Alzheimer disease. Down syndrome, a condition characterized by intellectual disability and other health problems, occurs when a person is born with an extra copy of chromosome 21 in each cell. As a result, people with Down syndrome have three copies of many genes in each cell, including the APP gene, instead of the usual two copies. Although the connection between Down syndrome and Alzheimer disease is unclear, the production of excess amyloid beta peptide in cells may account for the increased risk. People with Down syndrome account for less than 1 percent of all cases of Alzheimer disease. This type of Alzheimer disease is not inherited.
The causes of late-onset Alzheimer disease are less clear. The late-onset form does not clearly run in families, although clusters of cases have been reported in some families. This disorder is probably related to variations in one or more genes in combination with lifestyle and environmental factors. A gene called APOE has been studied extensively as a risk factor for the disease. In particular, a variant of this gene called the e4 allele seems to increase an individual's risk for developing late-onset Alzheimer disease.
Many more genes have been associated with Alzheimer disease, and researchers are investigating the role that additional genes may play in Alzheimer disease risk.
### Learn more about the genes associated with Alzheimer disease
* APOE
* APP
* PSEN1
* PSEN2
## Inheritance Pattern
Early-onset familial Alzheimer disease is inherited in an autosomal dominant pattern, which means one copy of an altered gene in each cell is sufficient to cause the disorder. In most cases, an affected person inherits the altered gene from one affected parent.
The inheritance pattern of late-onset Alzheimer disease is uncertain. People who inherit one copy of the APOE e4 allele have an increased chance of developing the disease; those who inherit two copies of the allele are at even greater risk. It is important to note that people with the APOE e4 allele inherit an increased risk of developing Alzheimer disease, not the disease itself. Not all people with Alzheimer disease have the e4 allele, and not all people who have the e4 allele will develop the disease.
*[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
| Alzheimer disease | c0002395 | 29,202 | medlineplus | https://medlineplus.gov/genetics/condition/alzheimer-disease/ | 2021-01-27T08:25:39 | {"gard": ["10254", "12798", "632", "12799"], "mesh": ["D000544"], "omim": ["104300", "104310", "607822", "606889"], "synonyms": []} |
For a phenotypic description and a discussion of genetic heterogeneity of susceptibility loci for dyslexia, see DYX1 (127700).
Mapping
Fagerheim et al. (1999) studied 36 members of a Norwegian family in which dyslexia was inherited as an autosomal dominant trait. They initiated a genomewide search for linkage using an average 20-cM marker density. Linkage analysis was performed assuming autosomal dominant inheritance with reduced penetrance. Three different models were used, and lod scores of 3.54, 2.92, and 4.32 were obtained for the region 2p16-p15. GENEHUNTER analysis identified the most likely position of the gene as a 4-cM interval bounded by D2S2352 and D2S1337.
In a study of 96 Canadian families in which at least 2 sibs were diagnosed with phonologic coding dyslexia, Petryshen et al. (2002) provided further evidence for the DYX3 locus. Although 2-point and multipoint parametric linkage analyses provided weak evidence for linkage to the DYX3 region, nonparametric linkage analysis provided the strongest evidence for linkage to DYX3, with a peak lod score of 2.33 at D2S1352. Multipoint variance component linkage analysis of phonologic awareness, phonologic coding, and spelling measures yielded positive scores within the region.
In Finland, Kaminen et al. (2003) performed a genomewide scan in 11 families containing 38 patients with dyslexia. Linkage was observed to 2p11, corresponding to the DYX3 locus.
Peyrard-Janvid et al. (2004) presented mapping evidence suggesting that there may be a second locus for dyslexia, distinct from DYX3, on the short arm of chromosome 2 (specifically, 2p11).
Cytogenetics
Peter et al. (2014) reported an 11-year-old boy with mild intellectual disability and a severe speech sound disorder associated with a de novo heterozygous 203-kb deletion at 2p16.1 (612513) including only the BCL11A gene (606557). He had some features associated with larger deletions of 2p16-p15, including abnormal muscle tone and delayed motor development, but lacked other significant features, such as craniofacial or skeletal anomalies and optic nerve impairment. His language difficulties were significant and included poor expressive speech, dysarthria in the orofacial region, and childhood apraxia of speech. Peter et al. (2014) suggested a specific role for the BCL11A gene in language development, and noted that this gene falls within the DYX3 locus. The patient also had a 343-kb duplication on 2q13 and an 80-kb duplication on 6p25.3.
*[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
| DYSLEXIA, SUSCEPTIBILITY TO, 3 | c1858662 | 29,203 | omim | https://www.omim.org/entry/604254 | 2019-09-22T16:12:15 | {"omim": ["604254"]} |
## Description
Hereditary gingival fibromatosis is a benign disorder manifested by a slowly progressive enlargement of the oral gingival tissues (summary by Xiao et al., 2001).
For general phenotypic information and a discussion of genetic heterogeneity of hereditary gingival fibromatosis, see GINGF (135300).
Clinical Features
Xiao et al. (2001) reported a 4-generation Chinese family in which gingival fibromatosis manifested in the first year of life.
Mapping
In a 4-generation Chinese family segregating gingival fibromatosis, Xiao et al. (2001) identified a locus for the condition on chromosome 5q13-q22. A maximum 2-point lod score of 4.31 at D5S1721 (theta = 0.00) was observed. Haplotype analysis placed the critical region in the interval defined by D5S1491 and D5S1453. Within this region, calcium/calmodulin-dependent protein kinase IV (CAMK4; 114080) was considered a strong candidate.
*[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
| FIBROMATOSIS, GINGIVAL, 2 | c0399440 | 29,204 | omim | https://www.omim.org/entry/605544 | 2019-09-22T16:11:11 | {"doid": ["0060466"], "mesh": ["C562884"], "omim": ["605544"], "orphanet": ["2024"], "synonyms": ["Alternative titles", "GGF2", "FIBROMATOSIS, GINGIVAL, HEREDITARY, 2"]} |
A number sign (#) is used with this entry because of evidence that 3MC syndrome-2 (3MC2) is caused by homozygous mutation in the COLEC11 gene (612502) on chromosome 2p25.
Description
The term '3MC syndrome' encompasses 4 rare autosomal recessive disorders that were previously designated the Carnevale, Mingarelli, Malpuech, and Michels syndromes, respectively. The main features of these syndromes are facial dysmorphism that includes hypertelorism, blepharophimosis, blepharoptosis, and highly arched eyebrows, which are present in 70 to 95% of cases. Cleft lip and palate, postnatal growth deficiency, cognitive impairment, and hearing loss are also consistent findings, occurring in 40 to 68% of cases. Craniosynostosis, radioulnar synostosis, and genital and vesicorenal anomalies occur in 20 to 30% of cases. Rare features include anterior chamber defects, cardiac anomalies, caudal appendage, umbilical hernia (omphalocele), and diastasis recti (summary by Rooryck et al., 2011).
For a discussion of genetic heterogeneity of 3MC syndrome, see 3MC1 (257920).
Clinical Features
Carnevale et al. (1989) described 2 sons of consanguineous parents with an apparently distinct syndrome manifested by eyelid ptosis, convergent strabismus, partial agenesis of the abdominal muscles, hip dislocation, cryptorchidism, and developmental delay. The elbows showed an ability to extend fully with limitation of pronation and supination. In addition to blepharoptosis, the brothers had blepharophimosis and epicanthus inversus as in the autosomal dominant disorder of blepharophimosis (110100).
Guion-Almeida and Rodini (1995) reported a Brazilian girl born of first-cousin parents and presenting with craniosynostosis, telecanthus, blepharophimosis, blepharoptosis, epicanthus inversus, cleft lip and palate, skeletal defects, and hearing loss. She did not have mental retardation.
Mingarelli et al. (1996) reported 2 sisters with facial, ocular, and skeletal defects, and abdominal muscle hypoplasia. The authors referred to the disorder as the 'oculo-skeletal-abdominal (OSA) syndrome.' Autosomal recessive inheritance was suggested.
Titomanlio et al. (2005) reported a female infant of healthy nonconsanguineous Chinese parents who exhibited facial dysmorphism including blepharophimosis, blepharoptosis, epicanthus inversus, telecanthus, bilateral cleft lip and palate, and micrognathia. Her anterior fontanel was extremely large. She also had low-set ears, 2 accessory nipples, a tuberous angioma on the thorax, a supraumbilical depression, small hands with bilateral short fifth fingers, broad feet, and severe axial hypotonia. When last seen at 2 years, 10 months of age, she had mild psychomotor retardation and no speech, and a moderate bilateral conductive hearing loss was noted. Titomanlio et al. (2005) reviewed the phenotypic similarities between Michels syndrome (257920), Malpuech syndrome (248340), Carnevale syndrome and OSA syndrome, and suggested that they may represent a single recessive spectrum rather than separate disorders. Titomanlio et al. (2005) proposed that the combined entity could be referred to as the '3MC syndrome' (Malpuech-Michels-Mingarelli-Carnevale syndrome).
Al Kaissi et al. (2007) reported a 4.5-year-old boy with cleft lip and palate, broad forehead, asymmetric occiput, highly arched and fine eyebrows, ptosis, hypertelorism, downward slanting palpebral fissure, ectropion of the lateral third of the lower eyelids, broad nasal bridge, broad philtrum, and prominent ears. He had progressive torticollis, and limited elbow mobility, but otherwise had generalized joint hypermotility. All fingers and toes were mildly shortened. Radiographic examination showed craniosynostosis of the lambdoid suture, cervical scoliosis secondary to incomplete development of the anterior neural arch of C1 and fusion of C2 and C3. The left elbow showed radio-ulnar synostosis. Diastasis recti and umbilical depression were also present. The patient's elder sister had similar facial features, diastasis recti, and normal umbilicus. Neither patient had mental retardation. In a review of the literature of similar syndromes, Al Kaissi et al. (2007) concluded that their patients were most similar to those described by Carnevale et al. (1989), Guion-Almeida and Rodini (1995), and Mingarelli et al. (1996), and suggested the designation 'Carnevale syndrome.' The authors noted the similarities to both Michels syndrome and Malpuech syndrome, but considered them to be separate entities.
Mapping
In 4 consanguineous families with 3MC syndrome, Rooryck et al. (2011) performed homozygosity mapping and identified a greater than 2.2-Mb common region of homozygosity at chromosome 2p25.
Molecular Genetics
In 4 consanguineous families with 3MC syndrome mapping to chromosome 2p25, Rooryck et al. (2011) analyzed candidate genes and identified 3 homozygous missense mutations and 1 in-frame deletion in the COLEC11 gene (612502.0001-612502.0004). Analysis of COLEC11 in additional 3MC patients revealed homozygous mutations in probands from 3 families, including the family originally described by Carnevale et al. (1989) (612502.0005) and the family originally described by Mingarelli et al. (1996) (612502.0006).
Urquhart et al. (2016) ascertained an additional 13 patients from 12 families with 3MC syndrome, in whom they analyzed the MASP1 (600521) and COLEC11 genes. Two Israeli sibs were homozygous for a frameshift mutation in MASP1, and 5 unrelated patients were homozygous for 2 missense and 3 nonsense mutations in COLEC11, respectively. The remaining 6 patients, including 4 who were 'less typical' of 3MC syndrome, were negative for mutation in MASP1 and COLEC11. Urquhart et al. (2016) tabulated the clinical features of these patients and noted that all of the mutation-positive individuals had distinctive highly arched eyebrows with ptosis as well as more striking hypertelorism than mutation-negative individuals. The authors considered this facial phenotype to be a key diagnostic feature for the condition. They also found that a caudal appendage, usually taking the form of a cystic lesion over the sacrum, was a good indicator for mutation-positive individuals.
Using DNA samples from 36 patients in 34 families with 3MC syndrome, Munye et al. (2017) screened for mutations in the COLEC11 and MASP1 genes and identified homozygosity for mutations in COLEC11 in 3 unrelated patients from Pakistan, Somalia, and Lebanon, as well as homozygosity for a MASP1 mutation in 1 patient.
INHERITANCE \- Autosomal recessive GROWTH Other \- Postnatal growth retardation HEAD & NECK Head \- Asymmetric head Face \- Broad forehead \- Broad philtrum \- Prominent premaxilla Ears \- Hearing loss Eyes \- Hypertelorism \- High-arched eyebrows \- Downslanting palpebral fissures \- Ptosis \- Strabismus \- Eversion of the lower eyelids \- Blepharophimosis Nose \- High nasal bridge \- Broad nasal bridge \- Broad, flat nasal tip Mouth \- Cleft lip \- Cleft palate \- Downturned corners of the mouth Neck \- Torticollis ABDOMEN External Features \- Umbilical depression GENITOURINARY External Genitalia (Male) \- Hypospadias (rare) Kidneys \- Horseshoe kidney (rare) SKELETAL \- Joint hypermobility Skull \- Craniosynostosis \- Asymmetric skull Spine \- Vertebral anomalies Limbs \- Limited elbow mobility \- Radioulnar synostosis (in some patients) SKIN, NAILS, & HAIR Skin \- Caudal appendage (sacral cyst) MUSCLE, SOFT TISSUES \- Diastasis recti \- Abdominal muscle hypoplasia \- Umbilical depression NEUROLOGIC Central Nervous System \- Mental retardation (rare) MOLECULAR BASIS \- Caused by mutation in the collectin 11 gene ( 612502.0001 ) ▲ 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
| 3MC SYNDROME 2 | c0796279 | 29,205 | omim | https://www.omim.org/entry/265050 | 2019-09-22T16:23:02 | {"doid": ["0060576"], "mesh": ["C535586"], "omim": ["265050"], "orphanet": ["293843", "2998"], "synonyms": ["Alternative titles", "PTOSIS OF EYELIDS WITH DIASTASIS RECTI AND HIP DYSPLASIA", "Malpuech-Michels-Mingarelli-Carnevale syndrome", "CARNEVALE SYNDROME, FORMERLY", "OCULO-SKELETAL-ABDOMINAL SYNDROME", "Craniofacial-ulnar-renal syndrome", "OSA SYNDROME"]} |
Johanson-Blizzard syndrome
Other namesJBS
The pancreas, and its location within the digestive system.
SpecialtyMedical genetics
Johanson–Blizzard syndrome is a rare, sometimes fatal autosomal recessive multisystem congenital disorder featuring abnormal development of the pancreas, nose and scalp, with mental retardation, hearing loss and growth failure.[1] It is sometimes described as a form of ectodermal dysplasia.[2]
The disorder is especially noted for causing profound developmental errors and exocrine dysfunction of the pancreas, and it is considered to be an inherited pancreatic disease.[3]
## Contents
* 1 Genetics
* 2 Pathophysiology
* 3 Diagnosis
* 3.1 Exocrine
* 3.2 Endocrine
* 3.3 Nasopharyngeal
* 3.4 Neurological
* 3.5 Auditory
* 3.6 Craniofacial
* 3.7 Effects on other organ systems
* 4 Treatment
* 5 Research
* 6 Eponym
* 7 See also
* 8 References
* 9 External links
## Genetics[edit]
Johanson-Blizzard syndrome has an autosomal recessive pattern of inheritance.
Johanson–Blizzard syndrome has an autosomal recessive pattern of inheritance resulting from [[Loss of function |loss of function]] (usually deleterious as nonsense, frameshift, or splice site) mutations in the Ubiquitin-Protein Ligase E3 Component N- Recognin gene (UBR1), which encodes for a specific ubiquitin ligase enzyme.[4] This means the defective UBR1 gene responsible for the disorder is located on an autosome, and two copies of the defective gene (one inherited from each parent) are required in order to be born with the Johanson–Blizzard syndrome. The parents of an individual with an autosomal recessive disorder both carry one copy of the defective gene, but usually do not experience any signs or symptoms of the disorder.[citation needed]
Johanson–Blizzard syndrome results from one or multiple mutations in UBR1, specifically at a fixed chromosomal position known as locus 15q15.2 or human chromosome 15, q-arm region 1, band 5, sub-band 2.[5] This gene spans around 161kb (161,000 base pairs) in length and contains 47 exons expressed as mRNA.[6] In comparison, mouse 120kb UBR1 is in the middle of chromosome 2 and shows homology of synteny (co-localized loci in same chromosome) with its human counterpart through its 50 exons. The protein has also been weighed in at 200-kD in mice compared to 225-kD in Saccharomyces cerevisiae.[6][5]
UBR1 encodes one of at least four functionally overlapping E3 ubiquitin ligases of the N-end rule pathway. This pathway consists of a conserved proteolytic system of proteins that destabilize N-terminal residues, meaning UBR1 codes for proteins with degron parts that send degradation signals to the cell, inducing metabolic instability. This specific signal is called N-degron, and its causal set of peptides yields the N-end rule, which relates the protein's in vivo half-life to the identity of its N-terminal residue through a ubiquitin system (N-end rule pathway). The N-recognin, also known as E3, binds to the destabilizing N-terminal residue of a substrate protein to form a substrate-linked miltiubiquitin chain.[5]
The direct connection between UBR1 mutations altering the protein degradation system and specific Johanson–Blizzard syndrome clinical anomalies (symptoms of diagnosis) is still undetermined as origin of possible mutagenic genetic variations varies from just the father alleles to both alleles; and single or multi-exon deletions/duplications in which all 47 UBR1 exons must be taken into account when performing Sanger sequencing and Multiplex ligation-dependent probe amplification (MLPA), meaning there is no obvious candidate gene.[7] However, most certain UBR1 mutations predict premature translational stop codons, with two missense mutations altering residues highly conserved among different species.[6] One of these missense mutations affects a conserved motif important for UBR1 substrate-binding by converting histidine at location 136 to arginine accompanied by intervening sequence. Bidirectional analysis of all 47 exons (including ~20bp flanking intronic regions) reveals homozygous mutation in exon 19, where threonine nucleotide substitudes cysteine, resulting in a missensed serine residue between peptide locations 698 and 702 completely conserved throughout vertebrate UBR1 (even UBR2) protein.[7] Another cysteine to threonine mutation, but homozygous nonsense in nature, has also been confirmed in Johanson–Blizzard syndrome patients with no functional UBR1 protein, but mild symptoms are also common in missense mutations in at least one of the two UBR1 copies with possible residual activity of gene product.[4] 2 Heterozygous mutations from nonconsanguineous parents arise from adenine to guanine conversion at nucleotide 407 resulting in a histidine 136 substitution to arginine at splice donor site.[8] Next nonconsanguineous homozygous nonsense mutation happens at glutamine 513 becoming a stop codon by a cytosine to thymine conversion caused by a cytosine to thymine transition at nucleotide 1537 in exon 13.[9] Continuing homozygous mutations, one converts guanine to adenine, in intron 26 resulting in residual normal protein production.[10] The last homozygous mutation turns guanine to adenine in intron 12 by skipping exon 13 through a frameshift and causing premature termination.[11] Maternally inherited heterozygous nonsense mutation of cysteine to adenine resulting in a tyrosine has also been classified at residue 1508.[12] Another heterozygous missense mutation on leucine linked to an arganine at exon 44 is considered pathongenic because leucine at residue 1597 is highly conserved among different species. Lastly, a splice site mutation has been identified intervening sequence changing thymine for cytosine at nucleotide 20.[13]
## Pathophysiology[edit]
Johanson–Blizzard syndrome is caused by mutations in the UBR1 gene, which encodes one of several ubiquitin ligase enzymes of the N-end rule pathway.[1][14]
The protein ubiquitin is a universal, "ubiquitously" expressed protein common to eukaryotic organisms. Ubiquitin plays a role in the regulation of other proteins by tagging them for eventual degradation by proteasomes.[15] This process begins when ubiquitin ligase covalently attaches a ubiquitin molecule to the lysine side chain of the target protein substrate (the misfolded, damaged, malfunctioning or unneeded protein that needs to be degraded). This is repeated a number of times in succession forming a chain of ubiquitin molecules, which is a process referred to as polyubiquitination. The polyubiquitination of the target protein signals the proteasome to break it down, which it does via proteolysis.[15] The ubiquitin-proteasome system plays a crucial role in the non-lysosomal degradation of intracellular proteins, and ubiquitin can also participate in modifying proteins to perform certain tasks.[15][16][17] Both degradation and modification of proteins within the cell are part of a broader regulatory scheme, necessary for cellular processes such as cell division, cell signaling, cell surface receptor function, apoptosis, DNA maintenance, inflammatory response and developmental quality control associated with the cell cycle and homeostasis in general.[16][17]
Ubiquitin-mediated degradation of proteins occurs through the N-end rule pathway.[18][19] In eukaryotes, including humans, the N-end rule pathway is part of the ubiquitin system.[18] Composed of a highly selective single-residue code (a single amino acid nucleotide sequence), the N-end rule serves as a mechanism which can relate the stability of a protein to the identity of the amino acid at its N-terminus (the end of the polypeptide with an amino group, which in the ubiquitin system may be involved in the reactive destabilization of the protein).[18][19][20]
In JBS, mutations in the UBR1 gene alter, disrupt or prevent the synthesis of ubiquitin ligase.[1][14] In the pancreatic acinar cells, UBR1 is more highly expressed than anywhere else in the body.[1] Impairment of the ubiquitin-proteasome system directly related to insufficient activity of ubiquitin ligase has been established as the cause of both congenital and progressive inflammatory damage, fatty tissue replacement, connective tissue proliferation and errors in innervation of the acini and islets, correlating to failures of normal apoptotic destruction of damaged cells and constitutive malpresence of proteins.[1][3][14] This also applies to other areas affected by deleterious UBR1 expression, such as the craniofacial area, musculoskeletal and nervous systems, dentition and organs.[1][14][21]
Missense, nonsense and splice site mutations of the UBR1 gene in both parents have been found with JBS, confirming the homozygous nature of the JBS phenotype. Variability of the phenotype, associated with residual ubiquitin ligase activity in some patients, has also been attributed to hypomorphic mutations occasionally found in either of the carrier parents.[1][3][14][21][22] The UBR1 gene is located on human chromosome 15.[14]
## Diagnosis[edit]
### Exocrine[edit]
The most prominent effect of Johanson–Blizzard syndrome is pancreatic exocrine insufficiency.[1][23][24][14][25] Varying degrees of decreased secretion of lipases, pancreatic juices such as trypsin, trypsinogen and others, as well as malabsorption of fats and disruptions of glucagon secretion and its response to hypoglycemia caused by insulin activity are major concerns when Johanson–Blizzard syndrome is diagnosed.[1][3][26] Associated with developmental errors, impaired apoptosis, and both prenatal and chronic inflammatory damage, necrosis and fibrosis of the pancreatic acini (clusters of pancreatic exocrine gland tissue, where secretion of pancreatic juice and related enzymes occurs), pancreatic exocrine insufficiency in Johanson–Blizzard syndrome can additionally stem from congenital replacement of the acini with fatty tissue.[1][3][26][27][28] Near total replacement of the entire pancreas with fatty tissue has also been reported. This is a progressive, sometimes fatal consequence of the disorder.[27]
### Endocrine[edit]
Endocrine insufficiency of the pancreas occurs with Johanson–Blizzard syndrome, though it is sometimes less common and less pronounced than the more prominent effects on exocrine function.[1] The islets of Langerhans are ducts in the pancreas where endocrine activity such as the release of hormones glucagon, somatostatin and insulin takes place. Pancreatic endocrine insufficiency in Johanson–Blizzard syndrome can be associated with either a buildup of connective tissue in the islet regions, congenital replacement of the islets with fatty tissue, or improper nerve signalling to the islets.[1][24][26][29][30] Endocrine dysfunction of the pancreas often results in diabetes mellitus. Both insulin resistance and diabetes have been observed with Johanson–Blizzard syndrome, and it is suggested that diabetes should be considered as a complication of Johanson–Blizzard syndrome and its course.[24][29]
Ductular output of fluids and electrolytes is preserved in the pancreas of many with Johanson–Blizzard syndrome, as well as moderate to normal levels of functioning bicarbonate.[1]
Endocrine abnormalities in other areas have also been present with the disorder. These include hypothyroidism,[2] growth hormone deficiency[1][26] and hypopituitarism.[1] Findings affecting pituitary function in some Johanson–Blizzard syndrome patients have included such anomalies as the formation of a glial hamartoma (a neoplasm, or tumor composed of glial cells) on a lobe of the pituitary gland, as well congenital underdevelopment of the anterior pituitary.[31] Growth failure and associated short stature (dwarfism) in Johanson–Blizzard syndrome can be attributed to growth hormone deficiency caused by diminished anterior pituitary function, with malabsorption of fats playing a subsequent role.[1][23][32]
### Nasopharyngeal[edit]
Pharyngeal malformations can lead to food passing through the nose
The primary malformation apparent with Johanson–Blizzard syndrome is hypoplasia (underdevelopment) of the nasal alae, or "wing of the nose".[1][2][25] Both hypoplasia and aplasia (partial or complete absence) of structural cartilage and tissue in this area of the nose, along with the underlying alae nasi muscle, are prevailing features of the disorder. Together, these malformations give the nose and nostrils an odd shape and appearance.[25][33]
### Neurological[edit]
Mental retardation ranging from mild to severe is present in the majority of Johanson–Blizzard syndrome patients, and is related to the deleterious nature of the known mutagen responsible for the disorder and its effects on the developing central nervous system.[1][14][34] Normal intelligence and age appropriate social development, however, have been reported in a few instances of Johanson–Blizzard syndrome.[30][34]
### Auditory[edit]
Findings with the inner ear in Johanson–Blizzard syndrome give explanation to the presence of bilateral sensorineural hearing loss in most patients affected by the disorder. The formation of cystic tissue in both the cochlea and vestibule, with resulting dilation (widening) and malformation of these delicate structures has been implicated.[25][27][35] Congenital deformations of the temporal bone and associated adverse anatomical effects on innervation and development of the inner ear also contribute to this type of hearing loss.[35][36]
### Craniofacial[edit]
Other abnormalities, affecting the scalp, head, face, jaw and teeth may be found with JBS. These include: ectodermal mid-line scalp defects with sparse, oddly-patterned hair growth;[2][27] aplasia cutis (underdeveloped, very thin skin) over the head,[37] an enlarged fontanelle ("soft spot" on the head of young infants),[32] microcephaly (undersized skull),[37] prominent forehead,[32] absence of eyebrows and eyelashes,[32] mongoloidal eye shape,[35] nasolacrimo- cutaneous fistulae (this refers to the formation of an abnormal secondary passageway from either the tear duct or lacrimal sac to the facial skin surface, possibly discharging fluid),[27] flattened ears,[32] micrognathism of the maxilla and mandible (underdevelopment of the upper and lower jaw, respectively), with the maxilla more prominently affected in some cases;[32][38][39] congenital clefting of bones surrounding the optical orbit (eye socket), such as the frontal and lacrimal bone;[38] and maldeveloped deciduous teeth ("baby teeth"), with an absence of permanent teeth.[27][32]
### Effects on other organ systems[edit]
Additional congenital anomalies, effects on other organs, and less common features of JBS have included: imperforate anus (occlusion of the anus),[21] vesicoureteral reflux (reversal of the flow of urine, from the bladder back into the ureters, toward the kidneys);[32] duplex of the uterus and vagina in female infants,[25] neonatal cholestasis of the liver, with cirrhosis and portal hypertension (high blood pressure in the hepatic portal vein);[21] dilated cardiomyopathy,[22] dextrocardia (congenital displacement of the heart to the right side of the chest),[1] atrial and ventricular septal defect;[1] low birth-weight,[40] failure to thrive,[40] hypotonia (decreased muscle tone);[37] sacral hiatus (a structural deficiency of the sacral vertebrae),[40] congenital cataracts,[40] and cafe-au-lait spots.[2]
## Treatment[edit]
While there is no cure for Johanson–Blizzard syndrome, treatment and management of specific symptoms and features of the disorder are applied and can often be successful. Variability in the severity of Johanson–Blizzard syndrome on a case-by-case basis determines the requirements and effectiveness of any treatment selected.[citation needed]
Pancreatic insufficiency and malabsorption can be managed with pancreatic enzyme replacement therapy, such as pancrelipase supplementation and other related methods.[1]
Craniofacial and skeletal deformities may require surgical correction, using techniques including bone grafts and osteotomy procedures.[38] Sensorineural hearing loss can be managed with the use of hearing aids and educational services designated for the hearing impaired.[30][35]
Special education, specialized counseling methods and occupational therapy designed for those with mental retardation have proven to be effective, for both the patient and their families.[41] This, too, is carefully considered for JBS patients.
## Research[edit]
Mice that are viable, fertile and lacked substantial phenotypic abnormalities other than reduced weight, with disproportionate decreases in skeletal muscle and adipose tissue are used for their pancreatic sensitive to scretagogue cholecytokinin by knocking out UBR1.This links signaling circuitry between pancreatic enzyme secretion and its source compound controlled by N-end rule pathway, ultimately determining pancreatic homeostasis is influenced by UBR1.[42][6] Saccharomyces cerevisiae also contains regions essential for recognition of the N-end rule substrates by UBR1 protein, as well as rabbits for through reticulocyte tryptic peptides after purification to E3α.[43]
## Eponym[edit]
Johanson–Blizzard syndrome was named after Ann J. Johanson and Robert M. Blizzard, the pediatricians who first described the disorder in a 1971 journal report.[33][44]
## See also[edit]
* Chronic pancreatitis
* Skeletal dysplasia
* Lipid
## References[edit]
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29. ^ a b Nagashima K, Yagi H, Kuroume T (Feb 1993). "A case of Johanson-Blizzard syndrome complicated by diabetes mellitus". Clinical Genetics. 43 (2): 98–100. doi:10.1111/j.1399-0004.1993.tb04458.x. ISSN 0009-9163. PMID 8448911. S2CID 33408299.
30. ^ a b c Gould NS, Paton JB, Bennett AR (Jun 1989). "Johanson-Blizzard syndrome: clinical and pathological findings in 2 sibs". American Journal of Medical Genetics. 33 (2): 194–199. doi:10.1002/ajmg.1320330212. PMID 2669481.
31. ^ Hoffman WH, Lee JR, Kovacs K, Chen H, Yaghmai F (Jan 2007). "Johanson-Blizzard syndrome: autopsy findings with special emphasis on hypopituitarism and review of the literature". Pediatric and Developmental Pathology. 10 (1): 55–60. doi:10.2350/06-05-0085.1. PMID 17378628. S2CID 42630522.
32. ^ a b c d e f g h Fichter CR, Johnson GA, Braddock SR, Tobias JD (January 2003). "Perioperative care of the child with the Johanson-Blizzard syndrome". Paediatric Anaesthesia. 13 (1): 72–5. doi:10.1046/j.1460-9592.2003.00957.x. PMID 12535044. S2CID 23268410.
33. ^ a b Online Mendelian Inheritance in Man (OMIM): 243800
34. ^ a b Moeschler JB, Polak MJ, Jenkins JJ, Amato RS (January 1987). "The Johanson-Blizzard syndrome: a second report of full autopsy findings". Am. J. Med. Genet. 26 (1): 133–8. doi:10.1002/ajmg.1320260120. PMID 3812553.
35. ^ a b c d Braun J, Lerner A, Gershoni-Baruch R (1991). "The temporal bone in the Johanson-Blizzard syndrome. A CT study". Pediatric Radiology. 21 (8): 580–3. doi:10.1007/BF02012603. PMID 1815181. S2CID 27095180.
36. ^ Bamiou DE, Phelps P, Sirimanna T (March 2000). "Temporal bone computed tomography findings in bilateral sensorineural hearing loss". Arch. Dis. Child. 82 (3): 257–60. doi:10.1136/adc.82.3.257. PMC 1718255. PMID 10685935.
37. ^ a b c Mardin MK, Ghandour M, Sakati NA, Nyhan WL (Nov 1978). "Johanson-Blizzard syndrome in a large inbred kindred with three involved members". Clin Genet. 14 (5): 247–250. doi:10.1111/j.1399-0004.1978.tb02141.x. PMID 709902. S2CID 35031493.
38. ^ a b c Kobayashi S, Ohmori K, Sekiguchi J (Sep 1995). "Johanson-Blizzard syndrome facial anomaly and its correction using a microsurgical bone graft and tripartite osteotomy". J Craniofac Surg. 6 (5): 382–385. doi:10.1097/00001665-199509000-00011. PMID 9020718.
39. ^ Motohashi N, Pruzansky S, Day D (1981). "Roentgencephalometric analysis of craniofacial growth in the Johanson-Blizzard syndrome". J Craniofac Genet Dev Biol. 1 (1): 57–72. PMID 7341643.
40. ^ a b c d Dumić M, Ille J, Bobonj G, Kordić R, Batinica S (May 1998). "Johanson-Blizzardov sindrom" [The Johanson-Blizzard syndrome]. Lijec Vjesn (in Croatian). 120 (5): 114–6. PMID 9748788.
41. ^ Prater JF, D'Addio K (March 2002). "Johanson-Blizzard syndrome--a case study, behavioral manifestations, and successful treatment strategies". Biol Psychiatry. 51 (6): 515–7. doi:10.1016/S0006-3223(01)01337-3. PMID 11922888. S2CID 10377190.
42. ^ Kwon, Y. T.; Xia, Z.; Davydov, I. V.; Lecker, S. H.; Varshavsky, A. (December 2001). "Construction and analysis of mouse strains lacking the ubiquitin ligase UBR1 (E3alpha) of the N-end rule pathway". Molecular and Cellular Biology. 21 (23): 8007–8021. doi:10.1128/MCB.21.23.8007-8021.2001. ISSN 0270-7306. PMC 99968. PMID 11689692.
43. ^ Kwon, Y. T.; Reiss, Y.; Fried, V. A.; Hershko, A.; Yoon, J. K.; Gonda, D. K.; Sangan, P.; Copeland, N. G.; Jenkins, N. A.; Varshavsky, A. (1998-07-07). "The mouse and human genes encoding the recognition component of the N-end rule pathway". Proceedings of the National Academy of Sciences. 95 (14): 7898–7903. Bibcode:1998PNAS...95.7898K. doi:10.1073/pnas.95.14.7898. ISSN 0027-8424. PMC 20901. PMID 9653112.
44. ^ Johanson A, Blizzard R (December 1971). "A syndrome of congenital aplasia of the alae nasi, deafness, hypothyroidism, dwarfism, absent permanent teeth, and malabsorption". J Pediatr. 79 (6): 982–7. doi:10.1016/S0022-3476(71)80194-4. PMID 5171616.
## External links[edit]
Classification
D
* ICD-10: Q87.8
* ICD-9-CM: 751.7
* OMIM: 243800
* MeSH: C535880
* DiseasesDB: 31914
* SNOMED CT: 75979009
External resources
* Orphanet: 2315
* v
* t
* e
Congenital malformations and deformations of digestive system
Upper GI tract
Tongue, mouth and pharynx
* Cleft lip and palate
* Van der Woude syndrome
* tongue
* Ankyloglossia
* Macroglossia
* Hypoglossia
Esophagus
* EA/TEF
* Esophageal atresia: types A, B, C, and D
* Tracheoesophageal fistula: types B, C, D and E
* esophageal rings
* Esophageal web (upper)
* Schatzki ring (lower)
Stomach
* Pyloric stenosis
* Hiatus hernia
Lower GI tract
Intestines
* Intestinal atresia
* Duodenal atresia
* Meckel's diverticulum
* Hirschsprung's disease
* Intestinal malrotation
* Dolichocolon
* Enteric duplication cyst
Rectum/anal canal
* Imperforate anus
* Rectovestibular fistula
* Persistent cloaca
* Rectal atresia
Accessory
Pancreas
* Annular pancreas
* Accessory pancreas
* Johanson–Blizzard syndrome
* Pancreas divisum
Bile duct
* Choledochal cysts
* Caroli disease
* Biliary atresia
Liver
* Alagille syndrome
* Polycystic liver disease
* v
* t
* e
Disorders of translation and posttranslational modification
Translation
* Ribosome: Diamond–Blackfan anemia
* FMR1
* Fragile X syndrome
* Fragile X-associated tremor/ataxia syndrome
* Premature ovarian failure 1
* Initiation factor: Leukoencephalopathy with vanishing white matter
* snRNP: Retinitis pigmentosa 33
Posttranslational modification
Protein folding
* Alzheimer's disease
* Huntington's disease
* Creutzfeldt–Jakob disease
* chaperonins: 3-Methylglutaconic aciduria 5
Protein targeting
* I-cell disease
Ubiquitin
* E1: X-linked spinal muscular atrophy 2
* E3: Johanson–Blizzard syndrome
* Von Hippel–Lindau disease
* 3-M syndrome
* Angelman syndrome
* Deubiquitinating enzyme: Machado–Joseph disease
* Aneurysmal bone cyst
* Multiple familial trichoepithelioma 1
SUMO
* OFC10
Other
* Multiple sulfatase deficiency
* Hyperproinsulinemia
* Ehlers–Danlos syndrome 6
*[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
| Johanson–Blizzard syndrome | c0175692 | 29,206 | wikipedia | https://en.wikipedia.org/wiki/Johanson%E2%80%93Blizzard_syndrome | 2021-01-18T18:50:28 | {"gard": ["80"], "mesh": ["C535880"], "umls": ["C0175692"], "icd-9": ["751.7"], "icd-10": ["Q87.8"], "orphanet": ["2315"], "wikidata": ["Q1699007"]} |
## Clinical Features
Dysplasia and/or delayed ossification of the pubic bones at the symphysis, without other anomalies, was reported by Schey and Levin (1971) in an adult male and all 3 of his children (males). This condition may mimic diastasis of the pubic bones which is associated with genitourinary abnormalities, especially epispadias and exstrophy of the urinary bladder. Cleidocranial dysplasia must also be considered in the differential diagnosis.
Skel \- Pubic bone dysplasia and/or delayed ossification 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
| PUBIC BONE DYSPLASIA | c1867436 | 29,207 | omim | https://www.omim.org/entry/178350 | 2019-09-22T16:35:25 | {"mesh": ["C566735"], "omim": ["178350"]} |
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. (August 2016)
Paroniria
Other namesNightmares, night terrors, excess dreams
SpecialtyPsychiatry
Paroniria is a medical condition involving an excess of morbid dreams and nightmares.[1][2][3] Also, Paroniria may be cause by the effects of the antihistamines.[4]
Paroniria is suspected to have many causes, including fear, stress, depression, trauma, and sleep deprivation, among others.[5]
## References[edit]
1. ^ Quarterly Journal of Psychological Medicine and Medical Jurisprudence. A. Simpson & Company. 1867. pp. 280–.
2. ^ John Mason GOOD (1820). A physiological system of Nosology; with a corrected and simplified nomenclature. Cox and Son. pp. 293–.
3. ^ The Medical Press & Circular. 1867. pp. 455–.
4. ^ Mathias B, Schutte M, Hopf G. (31 December 1987). "Adverse effects of antihistaminics". Europe PMC.CS1 maint: multiple names: authors list (link)
5. ^ Eshelman, Alan (1999-04-05). "Paroniria and medical nightmares". SFGATE.
This medical symptom 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
| Paroniria | c3887605 | 29,208 | wikipedia | https://en.wikipedia.org/wiki/Paroniria | 2021-01-18T19:07:08 | {"wikidata": ["Q25104596"]} |
## Summary
### Clinical characteristics.
GDAP1-related hereditary motor and sensory neuropathy (GDAP1-HMSN) is a peripheral neuropathy (also known as a subtype of Charcot-Marie-Tooth disease) that typically affects the lower extremities earlier and more severely than the upper extremities. As the neuropathy progresses, the distal upper extremities also become severely affected. Proximal muscles can also become weak. Age at onset ranges from infancy to early childhood. In most cases, disease progression causes disabilities within the first or second decade of life. At the end of the second decade, most individuals are wheelchair bound. Disease progression varies considerably even within the same family. The neuropathy can be either of the demyelinating type with reduced nerve conduction velocities or the axonal type with normal nerve conduction velocities. Vocal cord paresis is common. Intelligence is normal. Life expectancy is usually normal, but on occasion may be reduced because of secondary complications.
### Diagnosis/testing.
Diagnosis of GDAP1-HMSN is based on clinical findings and confirmed by detection on molecular genetic testing of either biallelic pathogenic variants in GDAP1 in those with autosomal recessive inheritance or a heterozygous pathogenic variant in those with autosomal dominant inheritance.
### Management.
Treatment of manifestations: Treatment is symptomatic and involves evaluation and management by a multidisciplinary team that includes neurologists, physiatrists, orthopedic surgeons, and physical and occupational therapists. Treatment may include: daily heel cord stretching exercises to prevent Achilles tendon shortening, ankle/foot orthoses, orthopedic surgery, forearm crutches or canes, wheelchairs, treatment of musculoskeletal pain with acetaminophen or nonsteroidal anti-inflammatory agents, and career and employment counseling.
Surveillance: Regular evaluation by the multidisciplinary team to determine neurologic status and functional disability.
Agents/circumstances to avoid: Drugs and medications known to cause nerve damage; obesity.
### Genetic counseling.
GDAP1-HMSN is usually inherited in an autosomal recessive (AR) manner; autosomal dominant (AD) inheritance is also observed.
* AR inheritance: At conception, each sib of an affected individual has a 25% chance of being affected, a 50% chance of being an asymptomatic carrier, and a 25% chance of being unaffected and not a carrier. Carrier testing for at-risk relatives is possible once the pathogenic variants in an affected family member have been identified.
* AD inheritance: Offspring of an individual with AD GDAP1-HMSN have a 50% risk of inheriting the GDAP1 pathogenic variant from their affected parent.
Prenatal testing for pregnancies at increased risk for GDAP1-HMSN and preimplantation genetic testing are possible for families in which the pathogenic variant(s) have been identified.
## Diagnosis
### Suggestive Findings
GDAP1-related hereditary motor and sensory neuropathy (GDAP1-HMSN) should be suspected in individuals with the following clinical and nerve conduction velocity findings.
Clinical findings
* Early onset of peripheral neuropathy, presenting especially with foot deformities, muscle wasting, and involvement of the sensory nerves resulting in decreased appreciation of touch, pain, and vibration. Proximal weakness usually comes later.
* Disability within the first and second decade of life consisting of foot deformity, difficulty walking and claw hand deformity.
* Vocal cord paresis manifest as a hoarse voice
* Mild-to-moderate scoliosis
* Occasional involvement of cranial nerves sometimes resulting in facial weakness.
Nerve conduction velocities (NCVs)
* Motor NCVs
* Most commonly are consistent with an axonal neuropathy with normal NCVs and reduced amplitudes [Sevilla et al 2003].
* Occasionally are consistent with either a demyelinating neuropathy with slowed NCVs (<38 m/s) [Baxter et al 2002, Nelis et al 2002, Ammar et al 2003, De Sandre-Giovannoli et al 2003] or an intermediate range (30-40 m/s) [Senderek et al 2003].
* Sensory NCVs are moderately reduced.
### Establishing the Diagnosis
The diagnosis of HMSN is established in a proband with typical clinical findings; the diagnosis of GDAP1-HMSN is established by the detection of either biallelic GDAP1 pathogenic variants (in those with autosomal recessive inheritance) or a heterozygous GDAP1 pathogenic variant pathogenic variant (in those with autosomal dominant inheritance) (see Table 1) on molecular genetic testing.
Molecular genetic testing approaches can include a combination of gene-targeted testing (single-gene testing or a multigene panel) and genomic testing (comprehensive genome sequencing) depending on the phenotype.
Gene-targeted testing requires that the clinician determine which gene(s) are likely involved, whereas genomic testing does not. Because the phenotype of GDAP1-HMSN is broad, individuals with the distinctive findings described in Suggestive Findings may be diagnosed using gene-targeted testing (see Option 1), whereas those with a phenotype indistinguishable from many other hereditary motor and sensory neuropathies are more likely to be diagnosed using genomic testing (see Option 2).
#### Option 1
When the phenotypic and laboratory findings suggest the diagnosis of GDAP1-HMSN, molecular genetic testing approaches can include single-gene testing or use of a hereditary motor and sensory neuropathy (Charcot-Marie-Tooth disease) multigene panel.
* Single-gene testing. Sequence analysis of GDAP1 is performed first. If only one pathogenic variant is found, gene-targeted deletion/duplication analysis can be considered; however, to date no exon or whole-gene deletions have been reported.
* A hereditary motor and sensory neuropathy (Charcot-Marie-Tooth disease) multigene panel that includes GDAP1 and other genes of interest (see Charcot-Marie-Tooth Hereditary Neuropathy Overview and 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 HMSN (CMT) 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. Of note, given the rarity of GDAP1-HMSN many panels for HMSN may not include this gene. (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 hereditary motor and sensory neuropathies, molecular genetic testing approaches can include comprehensive genomic testing (sequencing) and/or gene-targeted testing (multigene panel).
* 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 hereditary motor and sensory neuropathy (Charcot-Marie-Tooth disease) multigene panel may also be consdered.
### Table 1.
Molecular Genetic Testing Used in GDAP1-Related Hereditary Motor and Sensory Neuropathy
View in own window
Gene 1MethodProportion of Probands with Pathogenic Variants 2 Detectable by Method
GDAP1Sequence analysis 3~100% 4
Gene-targeted deletion/duplication analysis 5Unknown 4
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\.
Pathogenic variants in GDAP1 are identified in nearly 100% of individuals with autosomal recessive CMT whose disease has been mapped to 8q13-q21.1 [Manganelli et al 2014].
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\.
No data on detection rate of gene-targeted deletion/duplication analysis are available.
## Clinical Characteristics
### Clinical Description
GDAP1-related hereditary motor and sensory neuropathy (GDAP1-HMSN) can be inherited in either an autosomal recessive (AR) manner (more common) or an autosomal dominant (AD) manner. The phenotype of AR GDAP1-HMSN is more severe than that of AD GDAP1-HMSN.
### Table 2.
Comparison of Autosomal Recessive and Autosomal Dominant GDAP1-Related Hereditary Motor and Sensory Neuropathy
View in own window
GDAP1-HMSN SubtypeNeuropathy TypeClinical SeverityAge of OnsetVocal ParesisDisease Progression
AR GDAP1-HMSN (CMT4A, CMT2H, & CMTRIA)Typically axonal; demyelinating & intermediate also observedAggressiveEarly (onset can be infancy)CommonMost individuals wheelchair bound by end of 2nd decade
AD GDAP1-HMSN (CMT2K)Typically axonal or demyelinating; intermediate also observedMild relative to AR CMTVaries from childhood to late adulthoodRareSlow disease progression
CMT = Charcot-Marie-Tooth neuropathy; CMTRIA = Charcot-Marie-Tooth Neuropathy, recessive intermediate A; HMSN = hereditary motor and sensory neuropathy; also referred to as "Charcot-Marie-Tooth neuropathy." See Nomenclature for further discussion of term usage.
#### Autosomal Recessive (AR) GDAP1-HMSN
AR GDAP1-HMSN is an aggressive severe form with early onset and unusual manifestations. The disease is confined to the peripheral nervous system. Intellect is normal.
When onset of motor nerve involvement is in utero, affected newborns are hypotonic (i.e., a "floppy infant"). Onset can be in infancy, often before age two years. Affected children can show delayed achievement of motor milestones, including walking.
Initial manifestations are typically in the distal lower extremities, including the following:
* Foot deformities (high arch; hammertoe; pes cavus or equinovarus; severe clubfoot deformity [Bouhouche et al 2007])
* Muscle wasting
* Areflexia
* Sensory loss
Most authors describe early involvement of the upper extremities with distal muscle weakness and wasting and finger contractures (claw hands).
Sensory involvement leads to decreased appreciation in distal upper and lower limbs of touch, pain, vibration, and joint position.
In the majority of persons with AR GDAP1-HMSN nerve conduction velocities (NCVs) (see Suggestive Findings) are consistent with an axonal neuropathy. However, in a few persons NCVs are consistent with either a demyelinating neuropathy or an intermediate-range neuropathy. The clinical manifestations are not consistently distinct among these three neuropathy types.
As the neuropathy progresses the voice becomes hoarse as a result of vocal cord paresis [Sevilla et al 2003, Stojkovic et al 2004]. In some series, vocal cord paresis has been reported more often with axonal neuropathy than with demyelinating neuropathy [Cuesta et al 2002], whereas in other series the converse has been observed [Boerkoel et al 2003].
Rare manifestations of AR GDAP1-related neuropathy include the following:
* Spinal deformities [Birouk et al 2003, De Sandre-Giovannoli et al 2003, Sevilla et al 2003]
* Facial weakness [Boerkoel et al 2003]
* Painless lower-leg ulcers [Nelis et al 2002]
Progression of the neuropathy leads to disability of the lower and upper extremities. At the end of the second decade, most individuals are wheelchair bound. Phrenic nerve paresis has sometimes led to restrictive respiratory function [Sevilla et al 2008]. Life expectancy is usually normal, but on occasion may be reduced because of secondary complications.
Although persons with AR GDAP1-HMSN are usually more severely affected than those with AD inheritance, Kabzińska et al [2010] reported a founder variant in Europe (p.Leu239Phe) associated with a milder phenotype.
Intrafamilial variability in disease progression was observed in one family in which the proband was wheelchair bound by age 20 years and his sister remained ambulatory with a crutch at age 26 years [Azzedine et al 2003].
Heterozygotes in families with AR GDAP1-HMSN are usually unaffected; however, exceptions are two families with the p.Glu222Lys pathogenic variant in which some heterozygotes had mild manifestations [Kabzińska et al 2014].
Neuropathology. Both demyelinating and axonal peripheral nerve lesions have been observed. Prominent loss of medium-sized and large myelinated fibers has been described [Nelis et al 2002, Ammar et al 2003, Boerkoel et al 2003, Sevilla et al 2003]. Onion bulb formations as well as thinly myelinated and unmyelinated axons have been observed [Nelis et al 2002, De Sandre-Giovannoli et al 2003]. In one study, findings were interpreted as an intermediate type of neuropathy [Senderek et al 2003]. Focally folded myelin is not a feature.
#### Autosomal Dominant (AD) GDAP1-HMSN
AD GDAP1-HMSN – compared with AR GDAP1-HMSN – is typically associated with a milder phenotype that is slowly progressive.
AD GDAP1-HMSN has been reported in the following:
* Three Spanish families. In two families segregating the variant p.Arg120Trp and in a third family the variant p.Thr157Pro occurred de novo in the proband (whose paternity was confirmed) [Claramunt et al 2005].
* Eight families (in which 3 demonstrated reduced penetrance) with four different missense variants, including three families with the variant p.Arg120Trp [Zimoń et al 2011]
Onset varies from childhood to late adulthood. Difficulty with walking is the most common initial manifestation. Weakness and atrophy are usually restricted to distal muscles of the upper and lower limbs. Vocal cord paresis and thoracic scoliosis are uncommon. Disease progression is slow; affected persons generally remain ambulatory.
### Genotype-Phenotype Correlations
Possible genotype-phenotype correlations have been reported but are not common enough to be confirmed. An exception is the founder variant in eastern Europe, p.Leu239Phe, which appears to be associated with a comparably milder phenotype [Kabzińska et al 2010].
The GDAP1 pathogenic variant, p.Glu222Lys, may be uniquely associated with both AR GDAP1-HMSN and (in rare cases) AD GDAP1-HMSN [Kabzińska et al 2014].
Co-occurrence of pathogenic variants in genes causing two different types of HMSN. The co-occurrence of two HMSN-related pathogenic variants presumably resulted in an additive effect and suggests consideration of simultaneous variants in two HMSN-related genes as an explanation in unusual or severe cases:
* GDAP1 and MFN2. Kostera-Pruszczyk et al [2014] reported a child with severe HMSN who was found to be heterozygous for the GDAP1 pathogenic variant, p.His123Arg, and the MFN2 pathogenic variant, p.Thr236Met. The co-occurrence of pathogenic variants in these two genes was also reported by Cassereau et al [2011] and Vital et al [2012].
* GDAP1 and PRX. Auer-Grumbach et al [2008] reported two novel GDAP1 and PRX variants associated with early-onset HMSN.
### Penetrance
Reduced penetrance has been reported in AD GDAP1-HMSN. Several heterozygotes have been reported to be mildly affected or asymptomatic at an advanced age [Zimoń et al 2011].
### Nomenclature
Hereditary motor and sensory neuropathy is most commonly referred to by the eponymous name, "Charcot-Marie-Tooth (CMT) neuropathy" or "Charcot-Marie-Tooth disease."
Based on an older classification system in which subtypes were defined by clinical parameters such as mode of inheritance, clinical findings, neuropathy type (defined by electrophysiologic findings), and involved gene, GDAP1-related hereditary motor and sensory neuropathy has been referred to in the past as:
* CMT4A, autosomal recessive, demyelinating HMSN
* CMT2H, autosomal recessive, axonal HMSN
* CMTRIA, autosomal recessive, intermediate HMSN
* CMT2K, autosomal dominant, axonal HMSN
However, classification using these clinically defined parameters becomes difficult when pathogenic variants in a single gene (e.g., GDAP1) are associated with more than one mode of inheritance (e.g., both autosomal dominant and autosomal recessive inheritance), and/or more than one neuropathy type (axonal, demyelinating, and/or intermediate). To disambiguate, the general term GDAP1-related hereditary motor and sensory neuropathy (GDAP1-HMSN) is used in this GeneReview. For further review of nomenclature, see the Charcot-Marie-Tooth Hereditary Neuropathy Overview.
### Prevalence
Currently, autosomal recessive GDAP1-HMSN is considered one of the most common autosomal recessive hereditary neuropathies.
Molecular genetic testing has shown the following proportion of individuals with HMSN (also known as CMT) with GDAP1 pathogenic variants:
* Three of 69 (4.3%) unrelated Czech individuals with autosomal recessive CMT [Baránková et al 2007]
* Eight of 197 (5.4%) individuals in an Italian population with CMT [Manganelli et al 2014]
* Five of 174 (2.8%) families from Europe with autosomal recessive CMT screened for thirteen genes known to be associated with AR-HMSN [Zimoń et al 2015]
* 1% of 1000 individuals with an inherited peripheral neuropathy in Japan [Yoshimura et al 2017]
## Differential Diagnosis
See Charcot-Marie-Tooth Hereditary Neuropathy Overview.
Vocal cord paresis, which is often seen in autosomal recessive GDAP1-related HMSN, also occurs in other types of CMT, such as TRPV4-related hereditary neuropathy.
While AR GDAP1-HMSN is considered one of the most common causes of autosomal recessive CMT, SH3TC2-HMSN is equally common in some studies [Rudnik-Schöneborn et al 2016].
## Management
### Evaluations Following Initial Diagnosis
To establish the extent of disease and needs in an individual diagnosed with a GDAP1-related hereditary motor and sensory neuropathy (GDAP1-HMSN), the following evaluations are recommended:
* Neurologic examination to determine extent of weakness and atrophy, pes cavus, gait stability, and sensory loss
* Physical therapy and occupational therapy assessments regarding muscle weakness and gait and need for ankle foot orthoses, walking aids, and/or a wheelchair [Kennedy et al 2016]
* Speech therapy assessment if hoarseness is present or vocal cord paresis is suspected
* Consultation with a clinical geneticist and/or genetic counselor
### Treatment of Manifestations
Individuals with GDAP1-HMSN are often evaluated and managed by a multidisciplinary team that includes neurologists, physiatrists, orthopedic surgeons, and physical and occupational therapists [Corrado et al 2016, McCorquodale et al 2016]. Treatment is symptomatic and may include the following [Mathis et al [2015]:
* Daily heel cord stretching exercises to prevent Achilles tendon shortening.
* Exercise within the affected individual's capability
Note: (1) Fatigue may improve with exercise; (2) unconfirmed anecdotal observations suggest benefit from the stimulant modafinil [Carter et al 2006, Ramdharry et al 2012].
* Ankle/foot orthoses (AFOs) to correct foot drop and aid walking [Guillebastre et al 2011, Phillips et al 2012]
* Orthopedic surgery to correct severe pes cavus deformity [Boffeli & Tabatt 2015, Faldini et al 2015, Ferraro et al 2017]
* Forearm crutches or canes for gait stability
* Wheelchair for mobility because of gait instability
* Treatment of musculoskeletal pain with acetaminophen or nonsteroidal anti-inflammatory drugs [Kroenke et al 2009]
* Treatment of neuropathic pain with tricyclic antidepressants or drugs such as carbamazepine or gabapentin [Shy 2006, Bril et al 2011, Ribiere et al 2012, Jeong et al 2013]
* Weight control to avoid obesity, which has a negative effect on gait and balance
* Career and employment counseling because of persistent weakness of hands and/or feet
* Individual psychotherapy, group therapy, and/or antidepressant medication for depression [Cordeiro et al 2014]
Treatment may require involvement of specialists to evaluate and manage potential complications, including the following:
* Lower urinary tract involvement [Krhut et al 2014]
* Obstructive sleep apnea and restless legs [Boentert et al 2014]
* Pulmonary compromise and/or phrenic nerve involvement [Aboussouan et al 2007]
* Vocal cord paresis
* Hip dysplasia [Bamford et al 2009, Novais et al 2014]
Note: No special diet (including supplements with essential fatty acids, vitamin E, or creatine) has been shown to be beneficial [Mathis et al 2015].
### Surveillance
Regular evaluations to determine:
* Neurologic status and need for treatment (or change in treatment) for musculoskeletal and/or neuropathic pain;
* Functional disability and need for change in physical therapy regime and/or augmentative devices for activities of daily living and mobility;
* Need for change in diet to control weight;
* Need to involve specialists to evaluate and treat potential complications.
### Agents/Circumstances to Avoid
The following should be avoided:
* Obesity because of its negative effect on gait and balance
* Medications that are toxic or potentially toxic to persons with HMSN (CMT) ranging from definite high risk to negligible risk. See the Charcot-Marie-Tooth Association website (pdf) for an up-to-date list.
### Evaluation of Relatives at Risk
It is appropriate to clarify the genetic status of apparently asymptomatic at-risk relatives in order to identify as early as possible those who would benefit from prompt initiation of treatment and knowledge about agents/circumstances to avoid.
See Genetic Counseling for issues related to testing of at-risk relatives for genetic counseling purposes.
### Therapies Under Investigation
Mathis et al [2015] discuss more speculative possible future therapies for HMSN including neurotrophic factors, targeting transport defects, enhancement of autophagy-lysosomal pathways, and neuroregeneration.
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
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*[KOR]: κ-opioid receptor
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*[NET]: Norepinephrine transporter
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*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
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*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
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*[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
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*[POR]: Portugal
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*[AUS]: Australia
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*[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
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*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
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*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
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*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
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*[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
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*[SARMs]: Selective androgen receptor modulator
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*[[*]]: 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
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*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
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*[SDPD]: Self-Defeating Personality Disorder
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*[m.]: married
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*[NI]: Northern Ireland
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*[transl.]: translation
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*[VDCC]: voltage-gated calcium channel
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*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
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*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
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*[MAOA]: Monoamine oxidase A
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*[SAMe]: S-adenosyl-L-methionine
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| GDAP1-Related Hereditary Motor and Sensory Neuropathy | None | 29,209 | gene_reviews | https://www.ncbi.nlm.nih.gov/books/NBK1539/ | 2021-01-18T21:24:49 | {"synonyms": ["GDAP1-HMSN", "GDAP1-Related Charcot-Marie-Tooth Neuropathy"]} |
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Find sources: "Muscle tissue neoplasm" – news · newspapers · books · scholar · JSTOR (July 2019)
Muscle tissue neoplasm
SpecialtyOncology
A muscle tissue neoplasm is a neoplasm derived from muscle.
An example is myoma.
## References[edit]
## External links[edit]
Classification
D
* ICD-O: 8890-8929
* MeSH: D009379
* v
* t
* e
Connective/soft tissue tumors and sarcomas
Not otherwise specified
* Soft-tissue sarcoma
* Desmoplastic small-round-cell tumor
Connective tissue neoplasm
Fibromatous
Fibroma/fibrosarcoma:
* Dermatofibrosarcoma protuberans
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Histiocytoma/histiocytic sarcoma:
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Myxomatous
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* Hibernoma
Myomatous
general:
* Myoma/myosarcoma
smooth muscle:
* Leiomyoma/leiomyosarcoma
skeletal muscle:
* Rhabdomyoma/rhabdomyosarcoma: Embryonal rhabdomyosarcoma
* Sarcoma botryoides
* Alveolar rhabdomyosarcoma
* Leiomyoma
* Angioleiomyoma
* Angiolipoleiomyoma
* Genital leiomyoma
* Leiomyosarcoma
* Multiple cutaneous and uterine leiomyomatosis syndrome
* Multiple cutaneous leiomyoma
* Neural fibrolipoma
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* STUMP
Complex mixed and stromal
* Adenomyoma
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* Mesoblastic nephroma
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* Clear-cell sarcoma of the kidney
* Hepatoblastoma
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Mesothelial
* Mesothelioma
* Adenomatoid tumor
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* v
* t
* e
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*[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
| Muscle tissue neoplasm | c0282606 | 29,210 | wikipedia | https://en.wikipedia.org/wiki/Muscle_tissue_neoplasm | 2021-01-18T18:58:27 | {"mesh": ["D019042", "D009379"], "umls": ["C0282606"], "orphanet": ["206982"], "wikidata": ["Q6940324"]} |
A subtype of Metachromatic leukodystrophy characterized by rapidly progressive psychomotor regression with an onset before 30 months of age after a period of apparently normal development. Manifestations developing during the course of the disease are impaired feeding and swallowing due to pseudobulbar palsies, seizures, painful spasms, muscle weakness, ataxia, paralysis, dementia, and loss of speech, vision, and hearing, quickly resulting in complete loss of motor and cognitive skills, and decerebration. Death occurs within the first decade of life.
*[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
| Metachromatic leukodystrophy, late infantile form | c0751278 | 29,211 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=309256 | 2021-01-23T17:36:26 | {"mesh": ["D007966"], "umls": ["C0751278"], "icd-10": ["E75.2"], "synonyms": ["Arylsulfatase A deficiency, late infantile form", "MLD, late infantile form"]} |
Autosomal recessive mendelian susceptibility to mycobacterial diseases (MSMD) due to partial IFNgammaR2 deficiency is a genetic variant of MSMD (see this term) characterized by a partial deficiency in IFN-gammaR2, leading to a residual response to IFN-gamma and consequently to recurrent, moderately severe infections with bacillus Calmette-Guérin (BCG) and other environmental mycobacteria (EM).
## Epidemiology
The prevalence is unknown. Only one patient has been reported with this variant to date.
## Clinical description
The patient presented with a mild infection caused by BCG and M. abscessus.
## Etiology
Autosomal recessive MSMD due to partial IFNgammaR2 deficiency is caused by a homozygous mutation (R114C) in IFNGR2 on chromosome 21q22.1-22.2 that encodes the IFN-gamma receptor ligand binding chain. This mutation leads to a residual cellular response to IFN-gamma in terms of IL12p40 production.
## Genetic counseling
Transmission is autosomal recessive and genetic counseling is possible.
*[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
| Autosomal recessive mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR2 deficiency | c4013947 | 29,212 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=319574 | 2021-01-23T16:59:38 | {"omim": ["614889"], "icd-10": ["D84.8"], "synonyms": ["Autosomal recessive MSMD due to partial IFNgammaR2 deficiency", "Autosomal recessive MSMD due to partial interferon gamma receptor 2 deficiency", "Autosomal recessive mendelian susceptibility to mycobacterial diseases due to partial interferon gamma receptor 2 deficiency"]} |
A rare skin tumor characterized by an asymptomatic, solitary, often ulcerated nodule most commonly located in the face, involving the deep dermis, subcutaneous tissue, and skeletal muscle and fascia. Histopathologically, the lesion is composed of aggregates of atypical basaloid cells with numerous mitoses. Typical features include shadow cells, keratin cysts, and trichohyalin and keratohyalin granules. The tumor is locally aggressive and shows a tendency to recur after incomplete excision. Regional lymph node or visceral metastasis has 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
| Pilomatrix carcinoma | c0585475 | 29,213 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=499182 | 2021-01-23T19:00:51 | {"icd-10": ["C44.3", "C44.4"], "synonyms": ["Calcified epithelial carcinoma of Malherbe", "Calcifying epitheliocarcinoma", "Malignant pilomatricoma", "Trichomatrical carcinoma"]} |
"Flatfoot" redirects here. For other uses, see Flatfoot (disambiguation).
Flat feet
Other namesPes planus, fallen arches
SpecialtyOrthopedics Podiatry
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Flat feet (also called pes planus or fallen arches) is a postural deformity in which the arches of the foot collapse, with the entire sole of the foot coming into complete or near-complete contact with the ground.
There is a functional relationship between the structure of the arch of the foot and the biomechanics of the lower leg. The arch provides an elastic, springy connection between the forefoot and the hind foot so that a majority of the forces incurred during weight bearing on the foot can be dissipated before the force reaches the long bones of the leg and thigh.[1]
In pes planus, the head of the talus bone is displaced medially and distal from the navicular bone. As a result, the Plantar calcaneonavicular ligament (spring ligament) and the tendon of the tibialis posterior muscle are stretched to the extent that the individual with pes planus loses the function of the medial longitudinal arch (MLA). If the MLA is absent or nonfunctional in both the seated and standing positions, the individual has “rigid” flatfoot. If the MLA is present and functional while the individual is sitting or standing up on their toes, but this arch disappears when assuming a foot-flat stance, the individual has “supple” flatfoot. This latter condition is often treated with arch supports.[1] However, a recent randomized controlled trial found no evidence for the efficacy of treatment of flat feet in children either from expensive prescribed orthotics (i.e., shoe inserts) or less expensive over-the-counter orthotics.[2] Three studies (see citations below in Military performance section) of military recruits have shown no evidence of increased injury, or foot problems, due to flat feet, in a population of people who reach military service age without prior foot problems. However, these studies cannot be used to judge possible future damage from this condition when diagnosed at younger ages. They also cannot be applied to persons whose flat feet are associated with foot symptoms, or certain symptoms in other parts of the body (such as the leg or back) possibly referable to the foot.
## Contents
* 1 Children
* 1.1 Diagnosis
* 1.2 Treatment
* 2 Adults
* 2.1 Pathophysiology
* 2.2 Diagnosis
* 2.3 Treatment
* 3 Athletic performance
* 4 Military performance
* 5 See also
* 6 References
* 7 External links
## Children[edit]
Foot with a typical arch
Flat feet of a child are usually expected to develop into high or proper arches, as shown by feet of the mother.
Studies have shown flat feet are a common occurrence in children and adolescents. The human arch develops in infancy and early childhood as part of normal muscle, tendon, ligament and bone growth.[3] Flat arches in children usually become high arches as the child progresses through adolescence and into adulthood. Children with flat feet are at a higher risk of developing knee, hip, and back pain. A recent randomized controlled trial found no evidence for the efficacy of treatment of flat feet in children either from expensive prescribed orthotics i.e (shoe inserts) or less expensive over-the-counter orthotics.[2] As a symptom itself, flat feet usually accompany genetic musculoskeletal conditions such as dyspraxia,[4] ligamentous laxity or hypermobility.
### Diagnosis[edit]
Since children are unlikely to suspect or identify flat feet on their own, it is important for adult caregivers to check on this themselves. Besides visual inspection of feet and of the treadwear pattern on shoe soles, caregivers should notice when a child's gait is abnormal or the child seems to be in pain from walking. Children who complain about calf muscle pains, arch pain, or any other pains around the foot area may be developing or have developed flat feet.
* Lateral X-ray of a flat foot with C-sign, which is a bony bridge between the talar dome and sustentaculum tali, in combination with a prominent inferior border of the sustentaculum tali. This represents a talocalcaneal coalition, which is an abnormal connection between the talus and calcaneus, and is thought to cause the flat foot deformity in this case.[5]
### Treatment[edit]
Training of the feet, utilizing foot gymnastics and going barefoot on varying terrain, can facilitate the formation of arches during childhood, with a developed arch occurring for most by the age of four to six years. Ligament laxity is also among the factors known to be associated with flat feet. One medical study in India with a large sample size of children who had grown up wearing shoes and others going barefoot found that the longitudinal arches of the bare-footers were generally strongest and highest as a group, and that flat feet were less common in children who had grown up wearing sandals or slippers than among those who had worn closed-toe shoes. Focusing on the influence of footwear on the prevalence of pes planus, the cross-sectional study performed on children noted that wearing shoes throughout early childhood can be detrimental to the development of a normal or a high medial longitudinal arch. The vulnerability for flat foot among shoe-wearing children increases if the child has an associated ligament laxity condition. The results of the study suggest that children be encouraged to play barefooted on various surfaces of terrain and that slippers and sandals are less harmful compared to closed-toe shoes. It appeared that closed-toe shoes greatly inhibited the development of the arch of the foot more so than slippers or sandals. This conclusion may be a result of the notion that intrinsic muscle activity of the arch is required to prevent slippers and sandals from falling off the child’s foot.[6] In children with few symptoms orthotics are not recommended.[7]
## Adults[edit]
Flat feet can also develop as an adult ("adult acquired flatfoot") due to injury, illness, unusual or prolonged stress to the foot, faulty biomechanics,[8] or as part of the normal aging process. This is most common in women over 40 years of age. Known risk factors include obesity, hypertension and diabetes.[9] Flat feet can also occur in pregnant women as a result of temporary changes, due to increased elastin (elasticity) during pregnancy. However, if developed by adulthood, flat feet generally remain flat permanently.
A woman in her thirties dorsiflexes, showing an absence of arches, over-pronated navicular and hallux valgus in the toes typically associated with flat feet.
Flatfoot in a 55-year-old female with ankle and knee arthritis.
If a youth or adult appears flatfooted while standing in a full weight bearing position, but an arch appears when the person plantarflexes, or pulls the toes back with the rest of the foot flat on the floor, this condition is called flexible flatfoot. This is not a true collapsed arch, as the medial longitudinal arch is still present and the windlass mechanism still operates; this presentation is actually due to excessive pronation of the foot (rolling inwards), although the term 'flat foot' is still applicable as it is a somewhat generic term. Muscular training of the feet is helpful and will often result in increased arch height regardless of age.
### Pathophysiology[edit]
Research has shown that tendon specimens from people who suffer from adult acquired flat feet show evidence of increased activity of proteolytic enzymes. These enzymes can break down the constituents of the involved tendons and cause the foot arch to fall. In the future, these enzymes may become targets for new drug therapies.[9]
### Diagnosis[edit]
Many medical professionals can diagnose a flat foot by examining the patient standing or just looking at them. On going up onto tip toe the deformity will correct when this is a flexible flat foot in a child with lax joints. Such correction is not seen in adults with a rigid flat foot.
An easy and traditional home diagnosis is the "wet footprint" test, performed by wetting the feet in water and then standing on a smooth, level surface such as smooth concrete or thin cardboard or heavy paper. Usually, the more the sole of the foot that makes contact (leaves a footprint), the flatter the foot. In more extreme cases, known as a kinked flatfoot, the entire inner edge of the footprint may actually bulge outward, where in a normal to high arch this part of the sole of the foot does not make contact with the ground at all.
On plain radiography, flat feet can be diagnosed and graded by several measures, the most important in adults being the talonavicular coverage angle, the calcaneal pitch, and the talar-1st metatarsal angle (Meary's angle).[10] The talonavicular coverage angle is abnormally laterally rotated in flat feet.[10] It is normally up to 7 degrees laterally rotated, so a greater rotation indicates flat feet.[10] Radiographies generally need to be taken on weightbearing feet in order to detect misalignment.[11]
* Dorsoplantar projectional radiograph of the foot showing the measurement of the talonavicular coverage angle.
* Weight-bearing lateral X-ray showing the measurement of calcaneal pitch, which is an angle of the calcaneus and the inferior aspect of the foot, with different sources giving different reference points.[12] A calcaneal pitch of less than 17° or 18° indicates flat feet.[10]
* Same lateral X-ray showing the measurement of Meary's angle, which is the angle between the long axis of the talus and first metatarsal bone.[10] An angle greater than 4° convex downward is considered a flat foot, 15° - 30° moderate flat foot, and greater than 30° severe flat foot.[10]
### Treatment[edit]
Most flexible flat feet are asymptomatic, and do not cause pain. In these cases, there is usually no cause for concern. Flat feet were formerly a physical-health reason for service-rejection in many militaries. However, three military studies on asymptomatic adults (see section below), suggest that persons with asymptomatic flat feet are at least as tolerant of foot stress as the population with various grades of arch.
In a study performed to analyze the activation of the tibialis posterior muscle in adults with pes planus, it was noted that the tendon of this muscle may be dysfunctional and lead to disabling weightbearing symptoms associated with acquired flat foot deformity. The results of the study indicated that while barefoot, subjects activated additional lower-leg muscles to complete an exercise that resisted foot adduction. However, when the same subjects performed the exercise while wearing arch supporting orthotics and shoes, the tibialis posterior was selectively activated. Such discoveries suggest that the use of shoes with properly fitting, arch-supporting orthotics will enhance selective activation of the tibialis posterior muscle thus, acting as an adequate treatment for the undesirable symptoms of pes planus.[13]
Rigid flatfoot, a condition where the sole of the foot is rigidly flat even when a person is not standing, often indicates a significant problem in the bones of the affected feet, and can cause pain in about a quarter of those affected.[14][15] Other flatfoot-related conditions, such as various forms of tarsal coalition (two or more bones in the midfoot or hindfoot abnormally joined) or an accessory navicular (extra bone on the inner side of the foot) should be treated promptly, usually by the very early teen years, before a child's bone structure firms up permanently as a young adult. Both tarsal coalition and an accessory navicular can be confirmed by X-ray. Rheumatoid arthritis can destroy tendons in the foot (or both feet) which can cause this condition, and untreated can result in deformity and early onset of osteoarthritis of the joint. Such a condition can cause severe pain and considerably reduced ability to walk, even with orthoses. Ankle fusion is usually recommended.[16]
Treatment of flat feet may also be appropriate if there is associated foot or lower leg pain, or if the condition affects the knees or the lower back. Treatment may include foot gymnastics or other exercises as recommended by a podiatrist or physical therapist. In cases of severe flat feet, orthoses should be used through a gradual process to lessen discomfort. Over several weeks, slightly more material is added to the orthosis to raise the arch. These small changes allow the foot structure to adjust gradually, as well as giving the patient time to acclimatise to the sensation of wearing orthoses. In some cases, surgery can provide lasting relief, and even create an arch where none existed before; it should be considered a last resort, as it is usually very time consuming and costly.[17] A minimally-invasive surgical intervention involving a small implant is also available. The implant is inserted into the sinus tarsi and prevents the calcaneus and talus from sliding relative to each other. This prevents the sinus tarsi from collapsing and thus prevents the external symptom of the fallen arch from occurring.[18]
## Athletic performance[edit]
Acquired Flat foot deformity with clinical soft tissue swelling.
The effects of flat feet fall under two categories, which are asymptomatic and symptomatic. Individuals with rigid flat feet tend to exhibit symptoms such as foot and knee tendinitis, and are recommended to consider surgical options when managing symptoms. Individuals with flexible flat generally exhibit asymptomatic effects in response to their flat feet.[3]
According to AAP news and journal gateway, being flexibly flat-footed does not impede athletic performance.[19]
It is generally assumed by running professionals (primarily including some physical trainers, podiatrists, and shoe manufacturers) that a person with flat feet tends to overpronate in the running form.[20] However, some also assert that persons with flat feet may have an underpronating if they are not a neutral gait. With standard running shoes, these professionals claim, a person who overpronates in his or her running form may be more susceptible to shin splints, back problems, and tendonitis in the knee.[21] Running in shoes with extra medial support or using special shoe inserts, orthoses, may help correct one's running form by reducing pronation and may reduce risk of injury.[22]
## Military performance[edit]
Studies analyzing the correlation between flat feet and physical injuries in soldiers have been inconclusive, but none suggest that flat feet are an impediment, at least in soldiers who reached the age of military recruitment without prior foot problems. Instead, in this population, there is a suggestion of more injury in high arched feet. A 2005 study of Royal Australian Air Force recruits that tracked the recruits over the course of their basic training found that neither flat feet nor high arched feet had any impact on physical functioning, injury rates or foot health. If anything, there was a tendency for those with flat feet to have fewer injuries.[23] Another study of 295 Israel Defense Forces recruits found that those with high arches suffered almost four times as many stress fractures as those with the lowest arches.[24] A later study of 449 U.S. Navy special warfare trainees found no significant difference in the incidence of stress fractures among sailors and Marines with different arch heights.[25]
## See also[edit]
* Planovalgus deformity
* Marfan syndrome
* Ehlers-Danlos syndrome
* Comparison of orthotics
## References[edit]
1. ^ a b Franco, Abby Herzog (1987). "Pes Cavus and Pes Planus Analyses and Treatment". Physical Therapy. 67 (5): 688–94. CiteSeerX 10.1.1.1018.2649. doi:10.1093/ptj/67.5.688. PMID 3575426.
2. ^ a b Whitford D.; Esterman A. (2007). "A randomized controlled trial of two types of in-shoe orthoses in children with flexible excess pronation of the feet". Foot & Ankle International. University of South Australia, Spencer Gulf Rural Health School. 28 (6): 715–23. doi:10.3113/FAI.2007.0715. PMID 17592702. S2CID 33684466.
3. ^ a b Harris, Edwin J. (2010). "The Natural History and Pathophysiology of Flexible Flatfoot". Clinics in Podiatric Medicine and Surgery. 27 (1): 1–23. doi:10.1016/j.cpm.2009.09.002. PMID 19963167.
4. ^ "Dyspraxia in Adults". 3 October 2013.
5. ^ Zhou, Binghua; Tang, Kanglai; Hardy, Mark (2014). "Talocalcaneal coalition combined with flatfoot in children: diagnosis and treatment: a review". Journal of Orthopaedic Surgery and Research. 9 (1). doi:10.1186/s13018-014-0129-9. ISSN 1749-799X. PMID 25499625. S2CID 16663986. (CC BY 4.0)
6. ^ Rao UB, Joseph B (1992). "The influence of footwear on the prevalence of flat foot. A survey of 2300 children". J Bone Joint Surg Br. 74 (4): 525–27. doi:10.1302/0301-620X.74B4.1624509. PMID 1624509. quoted in http://www.unshod.org/pfbc/pfmedresearch.htm
7. ^ "Five Things Physicians and Patients Should Question" (PDF). Choosing Wisely. Retrieved 15 February 2018.
8. ^ Shoes, Sitting, and Lower Body Dysfunctions[unreliable medical source?]
9. ^ a b "Advance toward treatment for painful flat feet". ScienceDaily. 2012-01-11.
10. ^ a b c d e f "Pes Planus". University of Washington, Department of Radiology. Last modified: 14 August 2016
11. ^ Dan J Bell and Yuranga Weerakkody. "Pes planus". Radiopaedia. Retrieved 2018-03-01.
12. ^ Detailed explanations and references are located in the Calcaneal pitch article.
13. ^ Kulig, Kornelia; et al. (2005). "Effect of foot orthoses on tibialis posterior activation in persons with pes planus". Med Sci Sports Exerc. 37 (1): 24–29. doi:10.1249/01.mss.0000150073.30017.46. PMID 15632663.
14. ^ "Fallen Arch". Health A to Z. Aetna InteliHealth(R). 2007-12-18. Archived from the original on 2008-08-03. Retrieved 2008-05-27. "Unlike a flexible flatfoot, a rigid flatfoot is often the result of a significant problem affecting the structure or alignment of the bones that make up the foot's arch."
15. ^ "Flatfoot". Bone, Joint and Muscle Conditions: Flatfoot. Seattle Children's Hospital. 2008-07-29. Retrieved 2008-05-27. "About one in four people with rigid flatfoot has pain and disability."
16. ^ "Rheumatoid Arthritis in Feet - Academic Association of Medicine". aaom.org.
17. ^ "Flat Feet – Everything You Should Know – The Shoes For Me". theshoesforme.com.
18. ^ "Can The HyProCure Implant Provide The Answer For Hyperpronation?". podiatrytoday.com.
19. ^ Tudor, Anton; Ruzic, Lana; Sestan, Branko; Sirola, Luka; Prpić, Tomislav (1 March 2009). "Flat-Footedness Is Not a Disadvantage for Athletic Performance in Children Aged 11 to 15 Years" (PDF). Pediatrics. 123 (3): e386–e392. doi:10.1542/peds.2008-2262. PMID 19254974. S2CID 9891114.
20. ^ "Pronation, Explained." Runner's World. August 2004.
21. ^ "Running Shoes for Flat Feet." ShoeGuide.Org. February 2020.
22. ^ Hintermann, Beat; Nigg, Benno M. (September 1998). "Pronation in Runners: Implications for Injuries". Sports Medicine. 26 (3): 169–176. doi:10.2165/00007256-199826030-00003. PMID 9802173. S2CID 24812917. Retrieved 1 March 2020.
23. ^ Esterman A, Pilotto L (July 2005). "Foot shape and its effect on functioning in Royal Australian Air Force recruits. Part 1: Prospective cohort study". Military Medicine. 170 (6): 623–28. doi:10.7205/MILMED.170.7.623. PMID 16130646.
24. ^ Giladi M, Milgrom C, Stein M, et al. "The low arch, a protective factor in stress fractures: a prospective study of 295 military recruits". Orthop Rev 1985; 14:82–84.
25. ^ Jones, Bruce H.; Thacker, Stephen B.; Gilchrist, Julie; Kimsey, Jr., C. Dexter; Sosin, Daniel (2002). "Prevention of Lower Extremity Stress Fractures in Athletes and Soldiers: A Systematic Review". Epidemiologic Reviews. 24 (2): 228–47. doi:10.1093/epirev/mxf011. PMID 12762095.
## External links[edit]
* Can minimalist shoes help flat feet
* Natural flat feet solution the details
Classification
D
* ICD-10: M21.4, Q66.5
* ICD-9-CM: 734
* MeSH: D005413
* DiseasesDB: 4852
External resources
* MedlinePlus: 001262
* eMedicine: Orthoped/540
* v
* t
* e
Acquired musculoskeletal deformities
Upper limb
shoulder
* Winged scapula
* Adhesive capsulitis
* Rotator cuff tear
* Subacromial bursitis
elbow
* Cubitus valgus
* Cubitus varus
hand deformity
* Wrist drop
* Boutonniere deformity
* Swan neck deformity
* Mallet finger
Lower limb
hip
* Protrusio acetabuli
* Coxa valga
* Coxa vara
leg
* Unequal leg length
patella
* Luxating patella
* Chondromalacia patellae
* Patella baja
* Patella alta
foot deformity
* Bunion/hallux valgus
* Hallux varus
* Hallux rigidus
* Hammer toe
* Foot drop
* Flat feet
* Club foot
knee
* Genu recurvatum
Head
* Cauliflower ear
General terms
* Valgus deformity/Varus deformity
* Joint stiffness
* Ligamentous laxity
* v
* t
* e
Congenital malformations and deformations of musculoskeletal system / musculoskeletal abnormality
Appendicular
limb / dysmelia
Arms
clavicle / shoulder
* Cleidocranial dysostosis
* Sprengel's deformity
* Wallis–Zieff–Goldblatt syndrome
hand deformity
* Madelung's deformity
* Clinodactyly
* Oligodactyly
* Polydactyly
Leg
hip
* Hip dislocation / Hip dysplasia
* Upington disease
* Coxa valga
* Coxa vara
knee
* Genu valgum
* Genu varum
* Genu recurvatum
* Discoid meniscus
* Congenital patellar dislocation
* Congenital knee dislocation
foot deformity
* varus
* Club foot
* Pigeon toe
* valgus
* Flat feet
* Pes cavus
* Rocker bottom foot
* Hammer toe
Either / both
fingers and toes
* Polydactyly / Syndactyly
* Webbed toes
* Arachnodactyly
* Cenani–Lenz syndactylism
* Ectrodactyly
* Brachydactyly
* Stub thumb
reduction deficits / limb
* Acheiropodia
* Ectromelia
* Phocomelia
* Amelia
* Hemimelia
multiple joints
* Arthrogryposis
* Larsen syndrome
* RAPADILINO syndrome
Axial
Skull and face
Craniosynostosis
* Scaphocephaly
* Oxycephaly
* Trigonocephaly
Craniofacial dysostosis
* Crouzon syndrome
* Hypertelorism
* Hallermann–Streiff syndrome
* Treacher Collins syndrome
other
* Macrocephaly
* Platybasia
* Craniodiaphyseal dysplasia
* Dolichocephaly
* Greig cephalopolysyndactyly syndrome
* Plagiocephaly
* Saddle nose
Vertebral column
* Spinal curvature
* Scoliosis
* Klippel–Feil syndrome
* Spondylolisthesis
* Spina bifida occulta
* Sacralization
Thoracic skeleton
ribs:
* Cervical
* Bifid
sternum:
* Pectus excavatum
* Pectus carinatum
Authority control
* BNE: XX4422912
* NDL: 00563110
*[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
| Flat feet | c0016202 | 29,214 | wikipedia | https://en.wikipedia.org/wiki/Flat_feet | 2021-01-18T18:53:03 | {"mesh": ["D005413"], "umls": ["C0016202", "C0264133"], "icd-9": ["734"], "icd-10": ["Q66.5", "M21.4"], "wikidata": ["Q653200"]} |
For a general discussion of hereditary prostate cancer, see 176807.
Mapping
Gudmundsson et al. (2008) conducted a genomewide single-nucleotide polymorphism (SNP) association study on prostate cancer on over 23,000 Icelanders, followed by a replication study including over 15,500 individuals from Europe and the United States. Two newly identified variants were shown to be associated with prostate cancer: rs5945572 on Xp11.22, and rs721048 on 2p15 (HPC12; 611868). The A allele of rs5945572 showed the strongest association of markers on the X chromosome in analysis of the Icelandic samples (allele-specific OR = 1.21, P = 3.36 x 10(-4)). Combining results from the Icelandic group with those from 7 other prostate cancer study groups of European descent resulted in achievement of genomewide significance for rs5945572: OR = 1.23, P = 3.95 x 10(-13). The rs5945572 SNP is located on Xp11.22, with the closest genes being NUDT10 (300527) and NUDT11 (300528) on Xp11.23. The A allele correlated with a population-attributable risk (PAR) of approximately 7% in individuals of European descent.
Eeles et al. (2008) conducted a genomewide association study (GWAS) using blood DNA samples from 1,854 individuals with clinically detected prostate cancer diagnosed at or before the age of 60 years or with a family history of disease, and 1,894 population-screened controls with a low prostate-specific antigen (PSA) concentration (less than 0.5 ng/ml). Eeles et al. (2008) analyzed these samples for 541,129 SNPs using the Illumina Infinium platform. Initial putative associations were confirmed using a further 3,268 cases and 3,366 controls. Eeles et al. (2008) identified association of a SNP on chromosome Xp, rs5945619 (P = 1.5 x 10(-9)), between NUDT10 and NUDT11 (about 2 kb upstream of the latter).
*[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
| PROSTATE CANCER, HEREDITARY, X-LINKED 2 | c2931456 | 29,215 | omim | https://www.omim.org/entry/300704 | 2019-09-22T16:19:48 | {"doid": ["10283"], "mesh": ["C537243"], "omim": ["300704"], "orphanet": ["1331"]} |
GRACILE syndrome
Other namesGrowth delay-aminoaciduria-cholestasis-iron overload-lactic acidosis-early death (GRACILE) syndrome, Finnish lethal neonatal metabolic syndrome (FLNMS), lactic acidosis, Finnish, with hepatic hemosiderosis, Fellman syndrome
This condition is inherited in an autosomal recessive manner.
GRACILE syndrome is a very rare lethal autosomal recessive genetic disorder, one of the Finnish heritage diseases. GRACILE syndrome has also been found in the UK and Sweden, but not nearly as much as in Finland.[1] It is caused by a mutation in the BCS1L gene and it occurs in approximately 1 out of 50,000 live births in Finnish people. To date, there have only been 32 cases of GRACILE syndrome reported. [2]
GRACILE is an acronym for growth retardation, aminoaciduria (amino acids in the urine), cholestasis, iron overload, lactic acidosis and early death. Prior to birth, the growth of the fetus is abnormally slow. This slow growth leads to a smaller than average newborn that has difficulty growing at a normal rate.[3]
## Contents
* 1 Signs & Symptoms
* 2 Cause
* 3 Diagnosis
* 4 Prognosis
* 5 Terminology
* 6 References
* 7 External links
## Signs & Symptoms[edit]
People with GRACILE syndrome can have a wide range of symptoms, but that does not mean every person affected will have the same symptoms as one another[citation needed]
It has been determined that 80% - 99% of people with GRACILE syndrome have at least one of these:
* Cholestasis
* Cirrhosis
* Decreased transferrin saturation
* Elevated hepatic iron concentration
* Hearing impairments
* Hepatic steatosis
* Increased serum ferritin
* Intrauterine growth retardation
* Lactic acidosis
* Renal Fanconi syndrome
Other symptoms that happen in a smaller percentage of people with GRACILE syndrome include:
* Death in early adulthood
* Aminoaciduria
* Neonatal hypotonia
* Chronic lactic acidosis
* Increased serum iron
* Increased serum pyruvate
[4]
## Cause[edit]
A point mutation in the BCS1L gene found on chromosome 2 has been determined to be the cause of GRACILE syndrome. The BCS1L gene is responsible for the production of the BCS1L protein found in the mitochondria, which is connected to the process of oxidative phosphorylation. In particular, the protein is a key contributor in the formation of Complex III that is part of the electron transport chain. Complex III is still able to be produced, but it is reduced significantly compared to a person without GRACILE syndrome. The deficiency of Complex III is more pronounced in the liver and kidneys, which leads to the symptoms seen in those with GRACILE. [5]
## Diagnosis[edit]
The liver histology shows microvesicular steatosis and cholestasis with abundant iron accumulation in hepatocytes and Kupffer cells. The liver iron content slightly decreases with age, concomitantly with increasing liver fibrosis and cirrhosis. Abnormal transaminases and coagulation are noted.[citation needed] There are currently a combination of 55 biochemical and molecular genetics tests that can be completed prior to birth to diagnose GRACILE syndrome. These tests include enzyme assays, deletion/duplication analysis, targeted variant analysis, sequence analysis of select exons, and sequence analysis of the entire coding region. [3]
## Prognosis[edit]
One Finnish study which followed 25 cases from 18 families found that half the infants died within 3 days of birth and the other half died before 4 months of age.[2] Through cases like this, it has been determined that majority of the newborns with GRACILE syndrome will die within the first few months and the rest will die within a few days.[5]
## Terminology[edit]
* Fellman syndrome
* Finnish lactic acidosis with hepatic hemosiderosis
* Finnish lethal neonatal metabolic syndrome
[5]
## References[edit]
1. ^ "Orphanet: GRACILE%20syndrome". www.orpha.net.
2. ^ a b Visapää I, Fellman V, Vesa J, Dasvarma A, Hutton JL, Kumar V, Payne GS, Makarow M, Van Coster R, Taylor RW, Turnbull DM, Suomalainen A, Peltonen L (October 2002). "GRACILE syndrome, a lethal metabolic disorder with iron overload, is caused by a point mutation in BCS1L". Am. J. Hum. Genet. 71 (4): 863–76. doi:10.1086/342773. PMC 378542. PMID 12215968.CS1 maint: uses authors parameter (link)
3. ^ a b "GRACILE syndrome - Conditions - GTR - NCBI". www.ncbi.nlm.nih.gov. Retrieved 2020-04-03.
4. ^ "GRACILE syndrome | Genetic and Rare Diseases Information Center (GARD) – an NCATS Program". rarediseases.info.nih.gov. Retrieved 2020-04-03.
5. ^ a b c Reference, Genetics Home. "GRACILE syndrome". Genetics Home Reference. Retrieved 2020-04-03.
## External links[edit]
Classification
D
* ICD-10: E88.8
* OMIM: 603358
* MeSH: C537934
External resources
* Orphanet: 53693
* v
* t
* e
Disorders of citric acid cycle and electron transport chain
Citric acid cycle
* Pyruvate dehydrogenase deficiency
* Fumarase deficiency
Electron transport chain
* Coenzyme Q10 deficiency
* Björnstad syndrome
* GRACILE syndrome
* Leigh's disease
This genetic disorder 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
| GRACILE syndrome | c1864002 | 29,216 | wikipedia | https://en.wikipedia.org/wiki/GRACILE_syndrome | 2021-01-18T18:40:52 | {"gard": ["1"], "mesh": ["C537934"], "umls": ["C1864002"], "orphanet": ["53693"], "wikidata": ["Q5514398"]} |
Benign ovarian tumor
Luteoma
SpecialtyObstetrics
A luteoma is a tumor that occurs in the ovaries during pregnancy. It is associated with an increase of sex hormones, primarily progesterone and testosterone.[1][2] The size of the tumor can range from 1 to 25 cm in diameter, but is usually 6 to 10 cm in diameter[3] and can grow throughout the duration of the pregnancy.[4] However, luteomas are benign and resolve themselves after delivery. This type of tumor is rare with only about 200 documented cases; many of these cases were detected accidentally, so the actual rate of occurrence may be higher. The most obvious symptom of a luteoma is masculinization of the mother and the possible masculinization of the fetus.[1][5] This occurs because of the release of testosterone by the luteoma. Testosterone is a sex hormone most abundant in men although small amounts are naturally present in women. Testosterone is responsible for the male characteristics such as deepening of the voice, growth of dark hair, and acne.[6] While not life-threatening, the development of male characteristics associated with luteomas can cause visible changes in the mother and can have drastic effects on the formation of the fetus. Luteomas can cause the fetus to be born with an ambiguous sex, which, depending on how the parents prefer to raise the infant, may result in the parents choosing a sex for the fetus.
Luteomas can be associated with disorders of sex development (formerly known as pseudohermaphroditism).[7]
## Contents
* 1 Signs and symptoms
* 2 Risk factors
* 3 Diagnosis
* 4 Treatment
* 5 References
* 6 External links
## Signs and symptoms[edit]
Luteoma is frequently asymptomatic; only 36% of women actually show signs of masculinization.[3] These signs include acne, the growth of dark hair (especially on the face), deepening of the voice, temporal balding, and clitoromegaly.[1][8] An increase in testosterone levels in the mother doesn't necessarily mean masculinization will occur. During a normal pregnancy, the testosterone level will increase slightly in the first and second trimester, but doubles in the third trimester. The testosterone level also depends on the sex of the fetus; male fetuses cause a bigger increase in testosterone levels than female fetuses.[9][10]
Male fetuses, when carried by a mother who develops male characteristics from a luteoma, are not highly affected by the increase in testosterone in the mother due to this conditions. However, after birth, the male fetus may have abnormally high levels of testosterone, but this resolves itself. There hasn't been any ties between luteomas and the male infant producing high amounts of testosterone by itself.[3]
Out of the 36% of women who show male characteristics from the luteoma, 75% of female fetuses will also show signs of masculinization.[3] Female fetuses can have a variety of symptoms ranging from severe, requiring surgery, to mild, which resolves itself after birth. The severity of the symptoms a female fetus undergoes depends on when the exposure occurs and the duration of the exposure. If a female fetus is exposed to increased levels of testosterone in the first 7–12 weeks of the pregnancy, labioscrotal fusion and clitoromegaly can occur. These conditions would need correctional surgery if the infant was to be raised female. If testosterone exposure occurs after the first 12 weeks of pregnancy, no fusion will occur but the clitoris could still be enlarged.[3] The enlarged clitoris usually corrects itself after birth and the abnormally high testosterone levels will decrease as the body produces its own hormones.[3]
## Risk factors[edit]
Several conditions predispose a woman to forming a luteoma during pregnancy. Polycystic ovary syndrome is one such condition.[5] This syndrome is associated with high hormone levels and the failure of the ovaries to release an egg during the menstrual cycle, a symptom more often associated with menopause. The high levels of hormones in polycystic ovary syndrome seem to predispose women to forming a luteoma during pregnancy. A characteristic of luteomas is that they grow better in the presence of high levels of hormones that function in normal growth, sexual development, and reproductive function. Polycystic Ovary Syndrome causes an excess of hormones in the body including some of the hormones related to these functions.[11] Women who have already had a luteoma during a previous pregnancy have a higher high risk of having another luteoma. In this situation, women can be counseled on the risks of another pregnancy and their alternatives. Other risk factors associated with luteomas are multiple pregnancies, advanced maternal age, and Afro-Caribbean ethnicity.[5]
## Diagnosis[edit]
Luteomas are not often detected before delivery. Most luteomas are found during surgery if a caesarean section is performed or when some other surgery is performed. Pre-delivery detection is not effective for many reasons. Some tests, that can be performed pre-delivery, measure the amount of testosterone in the blood; however, this is not a very useful detection method since normal pregnancies have increased amounts of testosterone. Another method that would be useful to determine if a fetus is being exposed to testosterone is to test the placenta and umbilical cord for testosterone. The placenta has a mechanism for converting hormones from the mother into hormones that the fetus needs. If the amount of testosterone in the umbilical cord is higher than normal, the gene type of the fetus should be determined to see if the fetus is male or female. If the fetus is female then the high levels of testosterone in the umbilical cord could be an indicator that a luteoma is present. Unfortunately, this procedure can't be safely performed until after the fetus has undergone differentiation (when the sex of the fetus becomes apparent). But by this time the damage has already been done.[3]
## Treatment[edit]
No treatments for luteomas are currently available. The luteomas can be detected through ultrasound if masculinization is apparent in the mother.[8] The fetus can be tested for gene type and if the fetus is female and the umbilical cord tests high for testosterone levels then the risks of masculinization of the fetus can be considered. Interventions can't be made to change the outcomes, but the potential risks can be analyzed in order to make preparations. After the fetus is delivered the luteoma regresses on its own and only monitoring of the mother is needed after delivery. Depending on the sex of the fetus, exposure time and duration, the parents may need to decide if they will raise the child as male or female. Surgery may be necessary depending on what sex the child is going to be raised.[3]
## References[edit]
1. ^ a b c Huhtaniemi, Ilpo; Rulli, Susana; Ahtiainen, Petteri; Poutanen, Matti (2005). "Multiple sites of tumorigenesis in transgenic mice overproducing hCG". Molecular and Cellular Endocrinology. Elsevier Ireland Ltd. 234 (1–2): 117–126. doi:10.1016/j.mce.2004.10.013. PMID 15836960.
2. ^ Sorianello, E; Fritz, S; Beyer, S; Hales, D B; Mayerhofer, A; Libertun, C; Lux-Lantos, V (2002). "Development of an experimental ovarian tumor: immunocytochemical analysis". European Journal of Endocrinology. Bioscientifica. 147: 387–395. doi:10.1530/eje.0.1470387.
3. ^ a b c d e f g h McClamrock, Howard. Contemporary Endocrinology: Androgen Excess Disorders in Women: Polycystic Ovary Syndrome and Other Disorders, Second Edition. Humana Press Inc.
4. ^ Greene, R; Holzwarth, David; Roddick, J (1964). "Luteomas of Pregnancy". American Journal of Obstetrics and Gynecology. 88 (8): 1001–1011. doi:10.1016/s0002-9378(16)35084-0. PMID 14139281.
5. ^ a b c Phelan, Niamh; Conway, Gerard (2011). "Management of ovarian disease in pregnancy". Best Practice and Research Clinical Endocrinology and Metabolism. Elsevier Ltd. 25 (6): 985–992. doi:10.1016/j.beem.2011.07.007. PMID 22115171.
6. ^ Zitzmann, M; Nieschlag, E (2001). "Testosterone levels in healthy men and the relation to behavioural and physical characteristics: facts and constructs". European Journal of Endocrinology. Bioscientifica. 144: 183–197. doi:10.1530/eje.0.1440183.
7. ^ Mazza V, Di Monte I, Ceccarelli PL, et al. (March 2002). "Prenatal diagnosis of female pseudohermaphroditism associated with bilateral luteoma of pregnancy: case report". Hum. Reprod. 17 (3): 821–4. doi:10.1093/humrep/17.3.821. PMID 11870143.
8. ^ a b Spitzer, Rachel; Wherrett, Diane; Chitayat, David; Colgan, Terence; Dodge, Jason; Salle, Joao; Allen, Lisa (2007). "Maternal Luteoma of Pregnancy Presenting with Virilization of the Female Infant". Journal of Obstetrics and Gynaecology Canada. 29 (10): 835–840. doi:10.1016/s1701-2163(16)32642-1.
9. ^ Steier, Johan; Ulstein, Magnar (2002). "Human Chorionic Gonadotropin and Testosterone in Normal and Preeclampic Pregnancies in Relation to Fetal Sex". The American College of Obstetricians and Gynecologists. Elsevier Science Inc. 100 (3): 552–556. doi:10.1016/s0029-7844(02)02088-4.
10. ^ Sowers, MF; Beebe, J; Randolph, John; Jannausch, M (2001). "Testosterone Concentrations in Women Aged 25-50 Years: Associations with Lifestyle, Body Composition, and Ovarian Status". American Journal of Epidemiology. The Johns Hopkins School of Hygiene and Public Health. 153 (3): 256–264. doi:10.1093/aje/153.3.256. PMID 11157413.
11. ^ Carmina, Enrico; Lobo, Rogerio (1999). "Polycystic Ovary Syndrome (PCOS):Arguably the most common endocrinopathy is associated with significant morbidity in women". Journal of Clinical Endocrinology and Metabolism. The Endocrine Society. 84 (6): 1897–1899. doi:10.1210/jc.84.6.1897.
## External links[edit]
Classification
D
* ICD-10: C56.9
* ICD-O: 8610/0
* MeSH: D018311
* SNOMED CT: 26372004
* Histology at esynopsis.uchc.edu
* v
* t
* e
Tumors of the female urogenital system
Adnexa
Ovaries
Glandular and epithelial/
surface epithelial-
stromal tumor
CMS:
* Ovarian serous cystadenoma
* Mucinous cystadenoma
* Cystadenocarcinoma
* Papillary serous cystadenocarcinoma
* Krukenberg tumor
* Endometrioid tumor
* Clear-cell ovarian carcinoma
* Brenner tumour
Sex cord–gonadal stromal
* Leydig cell tumour
* Sertoli cell tumour
* Sertoli–Leydig cell tumour
* Thecoma
* Granulosa cell tumour
* Luteoma
* Sex cord tumour with annular tubules
Germ cell
* Dysgerminoma
* Nongerminomatous
* Embryonal carcinoma
* Endodermal sinus tumor
* Gonadoblastoma
* Teratoma/Struma ovarii
* Choriocarcinoma
Fibroma
* Meigs' syndrome
Fallopian tube
* Adenomatoid tumor
Uterus
Myometrium
* Uterine fibroids/leiomyoma
* Leiomyosarcoma
* Adenomyoma
Endometrium
* Endometrioid tumor
* Uterine papillary serous carcinoma
* Endometrial intraepithelial neoplasia
* Uterine clear-cell carcinoma
Cervix
* Cervical intraepithelial neoplasia
* Clear-cell carcinoma
* SCC
* Glassy cell carcinoma
* Villoglandular adenocarcinoma
Placenta
* Choriocarcinoma
* Gestational trophoblastic disease
General
* Uterine sarcoma
* Mixed Müllerian tumor
Vagina
* Squamous-cell carcinoma of the vagina
* Botryoid rhabdomyosarcoma
* Clear-cell adenocarcinoma of the vagina
* Vaginal intraepithelial neoplasia
* Vaginal cysts
Vulva
* SCC
* Melanoma
* Papillary hidradenoma
* Extramammary Paget's disease
* Vulvar intraepithelial neoplasia
* Bartholin gland carcinoma
*[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
| Luteoma | c1517842 | 29,217 | wikipedia | https://en.wikipedia.org/wiki/Luteoma | 2021-01-18T18:53:05 | {"mesh": ["D018311"], "umls": ["C1517842"], "icd-10": ["C56.9"], "wikidata": ["Q3840916"]} |
Refractory anemia' with excess of blasts
SpecialtyOncology
Refractory anemia with excess of blasts (RAEB) is a type of myelodysplastic syndrome[1] with a marrow blast percentage of 5% to 19%.[2]
In MeSH, "Smoldering leukemia" is classified under RAEB.[3]
## References[edit]
1. ^ Palmieri S, D'Arco AM, Celentano M, et al. (July 2006). "An antecedent diagnosis of refractory anemia with excess blasts has no prognostic relevance in acute myeloid leukemia of older adult patients". Ann. Oncol. 17 (7): 1146–51. doi:10.1093/annonc/mdl083. PMID 16687417.
2. ^ Estey E, Thall P, Beran M, Kantarjian H, Pierce S, Keating M (October 1997). "Effect of diagnosis (refractory anemia with excess blasts, refractory anemia with excess blasts in transformation, or acute myeloid leukemia [AML]) on outcome of AML-type chemotherapy". Blood. 90 (8): 2969–77. doi:10.1182/blood.V90.8.2969. PMID 9376577.
3. ^ Leukemia,+Smoldering at the US National Library of Medicine Medical Subject Headings (MeSH)
## External links[edit]
* Smoldering leukemia entry in the public domain NCI Dictionary of Cancer Terms
Classification
D
* ICD-10: D46.2
* ICD-9-CM: 238.73
* ICD-O: M9983/3
* MeSH: D000754
This article incorporates public domain material from the U.S. National Cancer Institute document: "Dictionary of Cancer Terms".
* v
* t
* e
Myeloid-related hematological malignancy
CFU-GM/
and other granulocytes
CFU-GM
Myelocyte
AML:
* Acute myeloblastic leukemia
* M0
* M1
* M2
* APL/M3
MP
* Chronic neutrophilic leukemia
Monocyte
AML
* AMoL/M5
* Myeloid dendritic cell leukemia
CML
* Philadelphia chromosome
* Accelerated phase chronic myelogenous leukemia
Myelomonocyte
AML
* M4
MD-MP
* Juvenile myelomonocytic leukemia
* Chronic myelomonocytic leukemia
Other
* Histiocytosis
CFU-Baso
AML
* Acute basophilic
CFU-Eos
AML
* Acute eosinophilic
MP
* Chronic eosinophilic leukemia/Hypereosinophilic syndrome
MEP
CFU-Meg
MP
* Essential thrombocytosis
* Acute megakaryoblastic leukemia
CFU-E
AML
* Erythroleukemia/M6
MP
* Polycythemia vera
MD
* Refractory anemia
* Refractory anemia with excess of blasts
* Chromosome 5q deletion syndrome
* Sideroblastic anemia
* Paroxysmal nocturnal hemoglobinuria
* Refractory cytopenia with multilineage dysplasia
CFU-Mast
Mastocytoma
* Mast cell leukemia
* Mast cell sarcoma
* Systemic mastocytosis
Mastocytosis:
* Diffuse cutaneous mastocytosis
* Erythrodermic mastocytosis
* Adult type of generalized eruption of cutaneous mastocytosis
* Urticaria pigmentosa
* Mast cell sarcoma
* Solitary mastocytoma
Systemic mastocytosis
* Xanthelasmoidal mastocytosis
Multiple/unknown
AML
* Acute panmyelosis with myelofibrosis
* Myeloid sarcoma
MP
* Myelofibrosis
* Acute biphenotypic leukaemia
This oncology 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
| Refractory anemia with excess of blasts | c0002894 | 29,218 | wikipedia | https://en.wikipedia.org/wiki/Refractory_anemia_with_excess_of_blasts | 2021-01-18T18:58:41 | {"mesh": ["D000754"], "umls": ["C0002894"], "icd-9": ["238.73"], "icd-10": ["D46.2"], "orphanet": ["86839"], "wikidata": ["Q7307573"]} |
A rare inflammatory disease characterized by an acute febrile, systemic, self-limiting, medium-vessel vasculitis primarily affecting children. It often causes acute coronary arteritis which is associated with coronary arterial aneurysms (CAA) that may be life threatening when untreated.
## Epidemiology
Although it has been reported worldwide, Kawasaki disease (KD) is over-expressed among Asian populations. In Europe, the annual incidence for children under 5 years of age ranges between 1/6,500-20,500. The disease is the most common cause of acquired heart disease in children in developed countries.
## Clinical description
Median age of onset is 2 years (with 75% of patients being under 5 years old). Fever (greater than 39 degrees C) that persists for greater than 5 days when untreated is a constant feature. Children are usually very irritable. Additional typical manifestations of KD include extremity changes (erythema and edema of palms and soles that desquamate after 2-3 weeks, usually seen in the subacute phase), polymorphic skin rash (maculopapular, urticarial, or scarlatiniform rash), lymphadenopathy (cervical, often unilateral, greater than 1.5 cm diameter), non-exudative bilateral conjunctivitis, and involvement of lips and oral mucosa (erythema, strawberry tongue, lip fissures). CAA is a life threatening complication that usually occurs in the subacute phase (6 to 8 weeks after onset) in 20-35% of untreated children. The regression of giant CAA (greater than 8 mm) is very unlikely, while minor dilations are usually transient. Atypical manifestations include myocarditis pericarditis, valvular regurgitation, hepatitis, diarrhea, abdominal pains, hydrops of gallbladder, arthralgia, arthritis, myalgia, aseptic meningitis, sensorineural hearing loss, urethritis and sterile pyuria. KD is a risk factor for ischemic heart disease in adulthood.
## Etiology
Etiology is unknown but several pathogenic theories have been proposed (e.g. infection by a toxin-secreting microorganism and a superantigen-driven process). Genetics appear to play a major role, and the disease is much more common in Asian populations. Genome-wide studies have identified single nucleotide polymorphisms which would confer increased susceptibility to the disease and to its complications.
## Diagnostic methods
Diagnosis is clinical. Complete KD is defined by fever and 4/5 of the standard clinical criteria (extremity changes, polymorphous rash, conjunctival injection, changes in lips and oral cavity, and cervical lymphadenopathy greater than 1.5 cm diameter). Incomplete KD can be diagnosed in case of prolonged fever, 2-3/5 standard criteria, and specific signs of coronary disease, particularly CAA when other causes of coronary vasculitis are excluded. Laboratory findings (elevated inflammatory markers and liver enzymes, neutrophilia and thrombocytosis), though non-specific, are supportive. At diagnosis, patients must be investigated for coronary involvement via transthoracic echocardiography.
## Differential diagnosis
Differential diagnosis includes autoimmune and autoinflammatory diseases (e.g. systemic-onset JIA), bacterial infections (i.e. bacterial toxic shock syndrome, leptospirosis, adenophlegmon), viral infections (i.e. measles, enterovirus, Epstein-Barr virus), and toxin or drug reactions.
## Management and treatment
Early administration of intravenous immunoglobulin (IVIg) reduces the rate of coronary abnormalities to less than 5% of patients. IVIg is administrated at a single dose of 2 g/kg before the 10th day of onset, or even later if persistent inflammation. In case of treatment failure, IVIg readministration, corticosteroids, anakinra and infliximab may be considered as second line treatments. Aspirin (30-50 mg/kg/day) are usually given in the febrile phase, followed by low (antiplatelet) doses (3-5 mg/day) for 6-8 weeks. Following diagnosis, coronary involvement is monitored at 2 weeks and 6-8 weeks by transthoracic echocardiography.
## Prognosis
Non-complicated cases resolve without sequelae, while patients with persistent CAA are at risk for major cardiovascular events and their long-term outcome may be complicated by premature ischemic heart disease.
*[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
| Kawasaki disease | c0026691 | 29,219 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=2331 | 2021-01-23T18:34:57 | {"gard": ["6816"], "mesh": ["D009080"], "omim": ["611775"], "umls": ["C0026691"], "icd-10": ["M30.3"], "synonyms": ["Mucocutaneous lymph node syndrome"]} |
A number sign (#) is used with this entry because of evidence that corticosteroid-binding globulin (CBG) deficiency can be caused by heterozygous or homozygous mutation in the SERPINA6 gene (122500) on chromosome 14q32.
Clinical Features
Doe et al. (1965) found decreased levels of serum corticosteroid-binding globulin in 8 persons in 3 generations of a family. Male and females were affected similarly. There was no male-to-male transmission.
DeMoor et al. (1967) found a bimodal distribution of CBG levels in males but not in females, and the fathers of males with low levels showed normal levels. The authors felt that X-linked inheritance best accounted for the findings.
Emptoz-Bonneton et al. (2000) reported a 43-year-old woman who was referred for chronic asthenia, hypotension, and depression. Biochemical studies showed decreased serum CBG and very low serum cortisol concentration.
Torpy et al. (2001) reported an Italian American family in which many individuals had decreased plasma immunoreactive CBG associated with hypotension and fatigue. Many had idiopathic chronic fatigue and 5 cases met the Centers for Disease Control criteria for chronic fatigue syndrome. The authors concluded that, as idiopathic fatigue disorders are associated with relatively low plasma cortisol, abnormalities of CBG may be pathogenic.
Buss et al. (2007) reported a 22-year-old man with severe muscle fatigue mostly experienced after stressful events. He had increased free urinary cortisol, increased salivary free cortisol in the morning, and high saliva cortisol, despite normal serum cortisol concentration after a psychosocial stress test. Serum CBG was decreased. He showed a blunted serum cortisol increase after ACTH challenge. Blood pressure was normal.
### Elevated Corticosteroid-Binding Globulin
Elevated CBG was found in a brother and sister by Lohrenz et al. (1968). Neither sib had children, and the mother, the only surviving parent, had normal CBG levels.
Coolens and Heyns (1989) found unexplained high serum CBG concentrations repeatedly in 2 apparently healthy sisters who were not pregnant and not taking exogenous estrogens. One had substantial variation in serum CBG and sex hormone-binding globulin concentrations during the menstrual cycle, which paralleled the normal cyclic changes in serum estradiol. The other woman was postmenopausal and had a high serum CBG despite low serum estradiol levels. Coolens and Heyns (1989) speculated that these women had an inherited abnormality in CBG production. The authors noted that the practical importance of this condition was that a very high morning serum cortisol concentration could lead to confusion with Cushing syndrome.
Molecular Genetics
Van Baelen et al. (1982, 1993) identified a variation in the CBG gene (L93H; 122500.0001), referred to as 'transcortin Leuven,' in 3 unrelated individuals from a population study. Family study of 1 of the individuals showed transmission of the allele; 2 children were homozygous for the variant. Individuals who were heterozygous or homozygous for the L93H protein had normal levels of serum transcortin and evening cortisol levels. Functional analysis showed that the L93H protein had decreased cortisol-binding affinity, reflecting a functional deficiency of the protein. One heterozygote in the family and 2 unrelated heterozygotes identified in the population study had arterial hypertension.
In a 43-year-old woman with CBG deficiency Emptoz-Bonneton et al. (2000) identified a homozygous substitution in the CBG gene (D367N; 122500.0002), referred to as 'CBG Lyon.'
In affected members of an Italian-Australian family with CBG deficiency, Torpy et al. (2001) identified a null mutation in the SERPINA6 gene (122500.0003). The CBG Lyon variation segregated independently in the same kindred. Among 32 family members there were 3 null homozygotes, 19 null heterozygotes, 2 compound heterozygotes, 3 Lyon heterozygotes, and 5 individuals without CBG mutations. Plasma immunoreactive CBG was undetectable in null homozygotes, and mean CBG levels were reduced by approximately 50% in null heterozygotes. Among 19 adults with the null mutation, 54% had a systolic blood pressure below the third percentile. Idiopathic chronic fatigue was present in 12 of 14 adult null heterozygotes (86%) and in 2 of 3 null homozygotes.
In a 22-year-old man with severe muscle fatigue associated with stress, Buss et al. (2007) identified a de novo heterozygous D367N mutation in the SERPINA6 gene. The authors postulated that in some cases CBG deficiency may act as an autosomal dominant disorder with incomplete penetrance, although a second pathogenic mutation could not be excluded in this case.
INHERITANCE \- Autosomal dominant \- Autosomal recessive CARDIOVASCULAR Vascular \- Hypotension \- Hypertension MUSCLE, SOFT TISSUES \- Muscle fatigue METABOLIC FEATURES \- Generalized fatigue LABORATORY ABNORMALITIES \- Decreased serum cortisol \- Decreased cortisol-binding globulin \- Normal free urinary cortisol \- Normal ACTH MISCELLANEOUS \- Variable phenotype \- Many patients are asymptomatic MOLECULAR BASIS \- Caused by mutation in the serpin peptidase inhibitor, clade A, member 6 gene (SERPINA6, 122500.0001 ) ▲ 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
| CORTICOSTEROID-BINDING GLOBULIN DEFICIENCY | c1852529 | 29,220 | omim | https://www.omim.org/entry/611489 | 2019-09-22T16:03:20 | {"doid": ["0090030"], "mesh": ["C565152"], "omim": ["611489"], "orphanet": ["199247"], "synonyms": ["Alternative titles", "CBG DEFICIENCY", "TRANSCORTIN DEFICIENCY"]} |
A rare, highly malignant central nervous system (CNS) rhabdoid tumor (RT) found almost exclusively in children.
## Epidemiology
The prevalence of ATRT is estimated to be 1- 2% among all pediatric CNS tumors and 10-20% of CNS tumors in patients less than 3 years. The age-standardized incidence rate is estimated to be 1/72,500 persons/year in Austria.
## Clinical description
Onset of primary ATRT occurs from birth to adulthood, with the highest incidence in the first 2 years of life. Only single cases have been reported in adults. Manifestations of ATRT include macrocephaly, vomiting, irritability, headache, apathy/lethargy, ataxia, neck stiffness, and seizures. ATRT can occur in the posterior fossa, fourth ventricle, cerebellar vermis (with intraventricular extension), cerebellum (alone or in combination with a supratentorial tumor), cerebral hemisphere, pineal region, frontal lobe, brainstem, spinal cord or result from metastases of renal RT. ATRT can involve the cerebellopontine angle (CPA), resulting in acute cranial nerve deficits (such as acute facial nerve palsy) as the presenting sign.
## Etiology
The vast majority of ATRT tumors show biallelic somatic inactivation of SMARCB1, a gene suppressor which encodes a core member of the adenosine triphosphate (ATP)-dependent SWI/SNF chromatin remodeling complex and which is a key regulator of cell proliferation and differentiation. In rare cases, mutations in the SMARCA4 gene, which encode another SWI/SNF chromatin-remodeling complex member, are observed.
## Diagnostic methods
Diagnosis is based on imaging findings (magnetic resonance and computed tomography scan) showing large and hyperdense solid tumors with marked tumor necrosis, intratumoral hemorrhage, patchy pattern of enhancement and association with moderate to marked adjacent parenchymal edema. Intratumoral calcification may be observed. Histological examination of the tumor shows a diffuse growth pattern of predominantly polygonal cells, vesicular nuclei with prominent nucleoli, high mitotic index, multiple necrosis or cystic foci and scattered cells that contain a cytoplasmic hyaline globular inclusion adjacent to the nucleus (rhabdoid cells). ATRT may be composed only of rhabdoid cells or, more commonly, may contain areas of rhabdoid cells juxtaposed to areas of primitive neuroepithelial cells and/or mesenchymal tissue and/or epithelial tissue. Tumor cells are immunopositive for vimentin, epithelial markers (cytokeratin, epithelial membrane antigen), rarely positive for the mesenchymal marker S-100 and immunonegative for desmin, GFAP, synaptophysin and neurofilaments. Diagnosis is confirmed by loss of nuclear staining of SMARCB1 (or SMARCA4) protein by immunohistochemistry.
## Differential diagnosis
Differential diagnosis includes medulloblastoma, ependymoblastoma, primitive neuroectodermal tumor, choroid plexus carcinoma, Ewing sarcoma (see these terms), undifferentiated chordoma, anaplastic meningioma and small cell sarcoma.
## Genetic counseling
ATRT can occur sporadically or as part of a RT predisposition syndrome (familial RT; see this term).
## Management and treatment
No standard of care exists for ATRT. Treatment includes the maximal resection of the tumor mass and postoperatively, chemotherapy with radiotherapy as long as it is compatible with the age of the patient.
## Prognosis
ATRT is highly aggressive and the prognosis is exceedingly dismal compared with other malignant brain tumors. Reported survival times have ranged from 0.5 to 11 months, with a particularly poor outcome for infants.
*[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
| Atypical teratoid rhabdoid tumor | c1836326 | 29,221 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=99966 | 2021-01-23T17:12:12 | {"mesh": ["C563737"], "omim": ["609322"], "icd-10": ["C49.9"], "synonyms": ["ATRT"]} |
Familial afibrinogenemia is a coagulation disorder characterized by bleeding symptoms due to a complete absence of circulating fibrinogen.
## Epidemiology
Prevalence of afibrinogenemia is estimated at 1/1,000,000.
## Clinical description
Common manifestations of afibrinogenemia include umbilical cord bleeding, epistaxis, hemarthrosis, gastrointestinal bleeding, menorrhagia, traumatic and surgical bleeding and, rarely, intracranial hemorrhage. Recurrent spontaneous abortions may occur.
## Etiology
The deficiency is due to various mutations in the FGA, FGB, or FGG genes.
## 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
| Familial afibrinogenemia | c2584774 | 29,222 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=98880 | 2021-01-23T19:05:01 | {"gard": ["5761"], "mesh": ["D000347"], "omim": ["202400"], "umls": ["C2584774"], "icd-10": ["D68.2"]} |
A rare skeletal dysplasi, characterized clinically by short stature of variable degrees with short limbs, brachydactyly and narrow thorax.
## Epidemiology
It has been described in 5 individuals in 2 families.
## Clinical description
Affected patients have normal intelligence. Radiographically, cone-shaped epiphyses are observed in the hands, the proximal part of the femur, and, to a variable degree, at the shoulders, knees, and ankles.
## Etiology
Homozygous mutations in the Indian hedgehog homolog gene (IHH; 2q33-q35), outside the region where brachydactyly type A-1 mutations are clustered, have been identified in affected patients.
## Genetic counseling
The condition is transmitted 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
| Acrocapitofemoral dysplasia | c1843096 | 29,223 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=63446 | 2021-01-23T18:46:03 | {"gard": ["10605"], "mesh": ["C564334"], "omim": ["607778"], "umls": ["C1843096"], "icd-10": ["Q78.8"]} |
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Kernicterus
Brain MRI. Hyperintense basal ganglia lesions on T2-weighted images.
SpecialtyPsychiatry, Neurology, Pediatrics
Diagnostic methodphysical examination of moro reflex
Kernicterus is a bilirubin-induced brain dysfunction.[1] The term was coined in 1904 by Schmorl. Bilirubin is a naturally occurring substance in the body of humans and many other animals, but it is neurotoxic when its concentration in the blood is too high, a condition known as hyperbilirubinemia. Hyperbilirubinemia may cause bilirubin to accumulate in the grey matter of the central nervous system, potentially causing irreversible neurological damage. Depending on the level of exposure, the effects range from clinically unnoticeable to severe brain damage and even death.
When hyperbilirubinemia increases past a mild level, it leads to jaundice, raising the risk of progressing to kernicterus. When this happens in adults, it is usually because of liver problems. Newborns are especially vulnerable to hyperbilirubinemia-induced neurological damage, because in the earliest days of life, the still-developing liver is heavily exercised by the breakdown of fetal hemoglobin as it is replaced with adult hemoglobin and the blood–brain barrier is not as developed. Mildly elevated serum bilirubin levels are common in newborns, and neonatal jaundice is not unusual, but bilirubin levels must be carefully monitored in case they start to climb, in which case more aggressive therapy is needed, usually via light therapy but sometimes even via exchange transfusion.
## Contents
* 1 Classification
* 1.1 Acute bilirubin encephalopathy (ABE)
* 1.2 Chronic bilirubin encephalopathy (CBE)
* 1.3 Subtle bilirubin encephalopathy (SBE)
* 2 Causes
* 3 Risk factors
* 4 Diagnosis
* 5 Prevention
* 6 Treatment
* 7 References
* 8 External links
## Classification[edit]
### Acute bilirubin encephalopathy (ABE)[edit]
ABE is an acute state of elevated bilirubin in the central nervous system. Clinically, it encompasses a wide range of symptoms. These include lethargy, decreased feeding, hypotonia or hypertonia, a high-pitched cry, spasmodic torticollis, opisthotonus, setting sun sign, fever, seizures, and even death. If the bilirubin is not rapidly reduced, ABE quickly progresses to chronic bilirubin encephalopathy.[citation needed]
### Chronic bilirubin encephalopathy (CBE)[edit]
CBE is a chronic state of severe bilirubin-induced neurological lesions. Reduction of bilirubin in this state will not reverse the sequelae. Clinically, manifestations of CBE include:[citation needed]
1. movement disorders – dyskinetic CP with often spasticity. 60% have severe motor disability (unable to walk).
2. auditory dysfunction – auditory neuropathy (ANSD)
3. visual/oculomotor impairments (nystagmus, strabismus, impaired upward or downward gaze, and/or cortical visual impairment). In rare cases, decreased visual acuity(blindness) can occur.
4. dental enamel hypoplasia/dysplasia of the deciduous teeth,
5. gastroesophageal reflux,
6. impaired digestive function.
7. slightly decreased intellectual function: Although most individuals (approximately 85%) with kernicterus fall in normal or dull-normal range.
8. epilepsy is uncommon.
These impairments are associated with lesions in the basal ganglia, auditory nuclei of the brain stem, and oculomotor nuclei of the brain stem. Cortex and white matter are subtly involved. Cerebellum may be involved. Severe cortical involvement is uncommon.
### Subtle bilirubin encephalopathy (SBE)[edit]
SBE is a chronic state of mild bilirubin-induced neurological dysfunction (BIND). Clinically, this may result in neurological, learning and movement disorders, isolated hearing loss and auditory dysfunction.
* In the past it was thought that kernicterus (KI) often cause an intellectual disability. This was assumed due to difficulty with hearing, that is typically not detected in a normal audiogram accompanied by impairments of speech, with choreoathetosis. With advances in technology, this has proven to not be the case as those living with KI have repeatedly demonstrated their intelligence using Augmentative Communication devices[citation needed]. Although most individuals with kernicteric cerebral palsy have normal intelligence, some children with mild choreoathetosis develop dull normal intelligence or mild intellectual disability even without auditory dysfunction.
## Causes[edit]
Unconjugated hyperbilirubinemia during the neonatal period describes the history of nearly all individuals who suffer from kernicterus. It is thought that the blood–brain barrier is not fully functional in neonates and therefore bilirubin is able to cross the barrier. Moreover, neonates have much higher levels of bilirubin in their blood due to:
1. Although the severe hemolytic disease of the newborn is usually the cause of death, many children who barely survive the anemia exhibit permanent mental impairment or damage to motor areas of the brain because of precipitation of bilirubin in the neuronal cells, causing destruction of many, a condition called kernicterus. The rapid breakdown of fetal red blood cells immediately prior to birth (and subsequent replacement by normal adult human red blood cells). This breakdown of fetal red blood cells releases large amounts of bilirubin.[citation needed]
2. Neonates cannot metabolize and eliminate bilirubin. The sole path for bilirubin elimination is through the uridine diphosphate glucuronosyltransferase isoform 1A1 (UGT1A1) proteins that perform a (SN2 conjugation) reaction called "glucuronidation". This reaction adds a large sugar to the bilirubin and makes it more water-soluble, so more readily excreted via the urine and/or the feces. The UGT1A1 enzymes are present, but not active until several months after birth in the newborn liver. Apparently, this is a developmental compromise since the maternal liver and placenta perform glucuronidation for the fetus. In the early 1980s a late-fetal change (30 – 40 weeks of gestation) in hepatic UGT1A1 (from 0.1% to 1.0% of adult activity levels) and post-natal changes that are related to birth age not gestational age were reported. Similar development of activities to pan-specific substrates were observed except for serotonin (1A4), where adult activities were observed in fetal (16 – 25 weeks) and neonatal liver up to 10 days old. More recently, individual UGT isoform development in infants and young children, including two fetal liver samples, were analyzed and showed that pediatric levels of mRNA and protein for UGT1A1 did not differ from adults, but activities were lower. Hence, the effects of UGT1A1 developmental delay in activation have been illuminated over the last 20–30 years. The molecular mechanism(s) for activating UGT1A1 remain unknown.[citation needed]
3. Administration of aspirin to neonates and infants. Aspirin displaces the bilirubin that was non-covalently attached to albumin in the blood stream, thus generating an increased level of free bilirubin which can cross the developing blood brain barrier. This can be life-threatening.[citation needed]
Bilirubin is known to accumulate in the gray matter of neurological tissue where it exerts direct neurotoxic effects. It appears that its neurotoxicity is due to mass-destruction of neurons by apoptosis and necrosis.
## Risk factors[edit]
* Premature birth
* Rh incompatibility
* Polycythemia – often present in neonates
* Sulfonamides (e.g. co-trimoxazole) – displaces bilirubin from serum albumin
* Crigler–Najjar syndrome, type I
* G6PD deficiency
* Bruising
Gilbert's syndrome and G6PD deficiency occurring together especially increases the risk for kernicterus.[2]
## Diagnosis[edit]
The diagnosis is based upon physical examination of moro reflex. Asymmetrical moro reflex indicate kernicterus[medical citation needed]. An xray also help to diagnose this condition. Asymmetrical moro reflex will indicate one sided brachial plexus injury. Neurological causes (including kernicterus) will have symmetric abnormal moro reflex ( or absent moro reflex).[citation needed]
## Prevention[edit]
The only effective way at preventing kernicterus is to lower the serum bilirubin levels either by phototherapy or exchange transfusion. Visual inspection is never sufficient; therefore, it is best to use a bilimeter or blood test to determine a baby's risk for developing kernicterus. These numbers can then be plotted on the Bhutani nomogram.[citation needed]
## Treatment[edit]
Currently no effective treatment exists for kernicterus. Future therapies may include neuroregeneration. A handful of patients have undergone deep brain stimulation, and experienced some benefit. Drugs such as baclofen, clonazepam, gabapentin, and artane are often used to manage movement disorders associated with kernicterus. Proton pump inhibitors are also used to help with reflux. Cochlear implants and hearing aids have also been known to improve the hearing loss that can come with kernicterus (auditory neuropathy – ANSD).[citation needed]
## References[edit]
1. ^ "What are Jaundice and Kernicterus? | CDC". Centers for Disease Control and Prevention. 11 December 2018. Retrieved 23 February 2020.
2. ^ Cappellini MD, Di Montemuros FM, Sampietro M, Tavazzi D, Fiorelli G (1999). "The interaction between Gilbert's syndrome and G6PD deficiency influences bilirubin levels". British Journal of Haematology. 104 (4): 928–9. doi:10.1111/j.1365-2141.1999.1331a.x. PMID 10192462.
## External links[edit]
Classification
D
* ICD-10: P57
* ICD-9-CM: 773.4, 774.7
* MeSH: D007647
* DiseasesDB: 7161
* SNOMED CT: 74925009
External resources
* MedlinePlus: 003243
* eMedicine: ped/1247
* Patient UK: Kernicterus
* v
* t
* e
Conditions originating in the perinatal period / fetal disease
Maternal factors
complicating pregnancy,
labour or delivery
placenta
* Placenta praevia
* Placental insufficiency
* Twin-to-twin transfusion syndrome
chorion/amnion
* Chorioamnionitis
umbilical cord
* Umbilical cord prolapse
* Nuchal cord
* Single umbilical artery
presentation
* Breech birth
* Asynclitism
* Shoulder presentation
Growth
* Small for gestational age / Large for gestational age
* Preterm birth / Postterm pregnancy
* Intrauterine growth restriction
Birth trauma
* scalp
* Cephalohematoma
* Chignon
* Caput succedaneum
* Subgaleal hemorrhage
* Brachial plexus injury
* Erb's palsy
* Klumpke paralysis
Affected systems
Respiratory
* Intrauterine hypoxia
* Infant respiratory distress syndrome
* Transient tachypnea of the newborn
* Meconium aspiration syndrome
* Pleural disease
* Pneumothorax
* Pneumomediastinum
* Wilson–Mikity syndrome
* Bronchopulmonary dysplasia
Cardiovascular
* Pneumopericardium
* Persistent fetal circulation
Bleeding and
hematologic disease
* Vitamin K deficiency bleeding
* HDN
* ABO
* Anti-Kell
* Rh c
* Rh D
* Rh E
* Hydrops fetalis
* Hyperbilirubinemia
* Kernicterus
* Neonatal jaundice
* Velamentous cord insertion
* Intraventricular hemorrhage
* Germinal matrix hemorrhage
* Anemia of prematurity
Gastrointestinal
* Ileus
* Necrotizing enterocolitis
* Meconium peritonitis
Integument and
thermoregulation
* Erythema toxicum
* Sclerema neonatorum
Nervous system
* Perinatal asphyxia
* Periventricular leukomalacia
Musculoskeletal
* Gray baby syndrome
* muscle tone
* Congenital hypertonia
* Congenital hypotonia
Infections
* Vertically transmitted infection
* Neonatal infection
* rubella
* herpes simplex
* mycoplasma hominis
* ureaplasma urealyticum
* Omphalitis
* Neonatal sepsis
* Group B streptococcal infection
* Neonatal conjunctivitis
Other
* Miscarriage
* Perinatal mortality
* Stillbirth
* Infant mortality
* Neonatal withdrawal
*[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
| Kernicterus | c0022610 | 29,224 | wikipedia | https://en.wikipedia.org/wiki/Kernicterus | 2021-01-18T18:54:59 | {"gard": ["6830"], "mesh": ["D007647"], "umls": ["C0022610"], "icd-9": ["774.7", "773.4"], "orphanet": ["415286"], "wikidata": ["Q861845"]} |
Bare lymphocyte syndrome type II (BLS II) is an inherited disorder of the immune system categorized as a form of combined immunodeficiency (CID). People with BLS II lack virtually all immune protection from bacteria, viruses, and fungi. They are prone to repeated and persistent infections that can be very serious or life-threatening. These infections are often caused by "opportunistic" organisms that ordinarily do not cause illness in people with a normal immune system.
BLS II is typically diagnosed in the first year of life. Most affected infants have persistent infections in the respiratory, gastrointestinal, and urinary tracts. Because of the infections, affected infants have difficulty absorbing nutrients (malabsorption), and they grow more slowly than their peers. Eventually, the persistent infections lead to organ failure. Without treatment, individuals with BLS II usually do not survive past early childhood.
In people with BLS II, infection-fighting white blood cells (lymphocytes) are missing specialized proteins on their surface called major histocompatibility complex (MHC) class II proteins, which is where the condition got its name. Because BLS II is the most common and best studied form of a group of related conditions, it is often referred to as simply bare lymphocyte syndrome (BLS).
## Frequency
BLS II is a rare condition. At least 100 cases have been reported in the medical literature. While BLS II has been found in several populations throughout the world, it appears to be especially prevalent in the Mediterranean region and North Africa.
## Causes
BLS II is caused by mutations in the CIITA, RFX5, RFXANK, or RFXAP gene. Each of these genes provides instructions for making a protein that plays a role in controlling the activity (transcription) of genes called MHC class II genes. Transcription is the first step in the production of proteins, and the CIITA, RFX5, RFXANK, and RFXAP proteins are critical for the production of MHC class II proteins from these genes.
The RFX5, RFXANK, and RFXAP proteins come together to form the regulatory factor X (RFX) complex, which attaches (binds) to specific regions of DNA involved in the regulation of MHC class II gene activity. The CIITA protein interacts with the RFX complex and brings together other proteins that turn on gene transcription, leading to the production of MHC class II proteins.
MHC class II proteins play an important role in the body's immune response to foreign invaders, such as bacteria, viruses, and fungi. To help the body recognize and fight infections, MHC class II proteins on lymphocytes bind to fragments of proteins (peptides) from foreign invaders so that other specialized immune system cells can interact with them. When these immune system cells recognize the peptides as harmful, they trigger the lymphocytes to launch immune responses to get rid of the foreign invaders.
Mutations in the CIITA, RFX5, RFXANK, or RFXAP gene prevent transcription of MHC class II genes, which leads to an absence of MHC class II proteins on the surface of certain lymphocytes. Lack of these proteins on lymphocytes impairs the body's immune response to bacteria, viruses, and fungi, leading to persistent infections in individuals with BLS II syndrome.
### Learn more about the genes associated with Bare lymphocyte syndrome type II
* CIITA
* RFX5
* RFXANK
* RFXAP
## Inheritance Pattern
This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show 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
| Bare lymphocyte syndrome type II | c2931418 | 29,225 | medlineplus | https://medlineplus.gov/genetics/condition/bare-lymphocyte-syndrome-type-ii/ | 2021-01-27T08:25:49 | {"gard": ["824"], "mesh": ["C537079"], "omim": ["209920"], "synonyms": []} |
A rare, syndromic genetic deafness disease characterized by symmetric or asymmetirc knuckle pads (typically located on the distal and interphalangeal joints), leukonychia, diffuse palmoplantar keratoderma, and congenital, mild to moderate sensorineural deafness.
*[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
| Knuckle pads-leukonychia-sensorineural deafness-palmoplantar hyperkeratosis syndrome | c0266004 | 29,226 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=2698 | 2021-01-23T19:07:43 | {"gard": ["3125"], "mesh": ["C537210"], "omim": ["149200"], "umls": ["C0266004"], "icd-10": ["Q82.8"], "synonyms": ["Bart-Pumphrey syndrome", "Knuckle pads-leukonychia-sensorineural deafness-palmoplantar keratoderma syndrome", "Knuckle pads-leukonychia-sensorineural hearing loss-palmoplantar hyperkeratosis syndrome", "Knuckle pads-leukonychia-sensorineural hearing loss-palmoplantar keratoderma syndrome"]} |
Edwards and Grootegoed (1983) described a sperm-specific enolase.
*[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
| ENOLASE, SPERM SPECIFIC | c3888311 | 29,227 | omim | https://www.omim.org/entry/131375 | 2019-09-22T16:41:45 | {"omim": ["131375"]} |
A number sign (#) is used with this entry because of evidence that early infantile epileptic encephalopathy-75 (EIEE75) is caused by compound heterozygous mutation in the PARS2 gene (612036) on chromosome 1p32.
Description
Early infantile epileptic encephalopathy-75 (EIEE75) is an autosomal recessive neurodevelopmental and neurodegenerative disorder characterized by onset of severe refractory seizures in the first months of life. Patients usually have global developmental delay before the onset of seizures, and thereafter achieve few milestones. They have severely impaired intellectual development with inability to walk, absent speech, and hypotonia with axial hyperreflexia. Brain imaging shows progressive cerebral atrophy, frontal lobe atrophy, white matter abnormalities, and delayed myelination. Since the disorder is due to mitochondrial dysfunction, some patients may develop other organ involvement, including cardiomyopathy or liver and renal dysfunction. Death may occur in childhood (summary by Yin et al., 2018).
For a general phenotypic description and a discussion of genetic heterogeneity of EIEE, see EIEE1 (308350).
Clinical Features
Sofou et al. (2015) reported a Swedish boy (patient 15 in Sofou et al., 2012) who presented at 2.5 months of age with seizures, signs of psychomotor regression, and increased lactate levels associated with a respiratory infection. Brain imaging showed generalized cortical atrophy. He later showed hypotonia, dystonia, progressive microcephaly, severe mental retardation, and cortical visual impairment. Brain imaging at age 10 months showed progression of cerebral cortical atrophy. The patient died at age 2 years of cardiac failure due to dilated cardiomyopathy and left ventricular hypertrophy. Skeletal muscle samples showed decreased activity of mitochondrial complexes I and IV, although morphology was essentially normal. Sofou et al. (2012) reported that electron microscopy of skeletal muscle samples showed abnormal mitochondria. Postmortem examination showed brain atrophy and laminar necrosis with gliosis and capillary proliferation throughout the cerebral cortex, necrosis in the basal ganglia, and minor spongiotic changes in white matter; the liver was severely congested.
Ciara et al. (2018) described 3 Polish sibs with EIEE75 who had previously been reported by Pronicka et al. (2016) with limited clinical details. The sibs presented in infancy with global developmental delay and onset of severe refractory epilepsy with myoclonic jerks and hypsarrhythmia in the first months of life. Two had prolonged neonatal jaundice. They had feeding difficulties with poor overall growth and essentially no further development, no speech, and no eye contact. Other features included pale optic disks, hypotonia with brisk reflexes, and extensor plantar responses. Dysmorphic features included secondary microcephaly (-5.1 to -6 SD) with sloping forehead, hypertelorism, prominent eyes, upslanting palpebral fissures, short nose with broad nasal bridge, anteverted nostrils, short philtrum, open mouth, and small chin. Brain imaging showed a thin corpus callosum, cortical and subcortical atrophy, hypomyelination, and frontal brain atrophy, the last of which the authors suggested may be specific to this disorder. One patient had transient elevation of liver enzymes triggered by valproate administration at 7.5 years of age. He later developed dilated cardiomyopathy, increased serum lactate, and stroke-like lesions on brain imaging. He died at age 8.5 years; his sister also had relatively later onset of cardiomyopathy and liver involvement, and died at age 8 years of multiorgan failure with dominant renal failure. The third sib developed left ventricular cardiomyopathy at age 4 years. Lactate levels were normal or only sometimes increased, and muscle biopsy analysis of 1 patient showed normal activities of respiratory chain complexes.
Mizuguchi et al. (2017) reported 2 sisters, aged 9 and 3 years, with EIEE75. They presented with refractory seizures and severe EEG abnormalities in the first 4 to 5 months of age. They had profoundly impaired intellectual development (IQ of 10 in 1 patient) and hypotonia. Other features included poor overall growth with postnatal microcephaly (-2.4 to -3.9 SD) and increased serum and CSF lactate. Brain imaging showed diffuse cortical atrophy, decreased frontal lobe volume, and hypomyelination.
Yin et al. (2018) reported 2 Chinese sisters with EIEE75 who showed delayed psychomotor development from infancy with inability to control the head until 3 to 6 months of age and poor feeding. Both developed intractable frequent seizures associated with hypsarrhythmia within the first year of life, and thereafter had essentially no development. They had hypotonia, dystonia, and progressive microcephaly. Brain imaging showed T2-weighted hyperintensities in the subcortical white matter and cerebellum, atrophy of the frontal lobes, generalized cortical atrophy, and delayed myelination. Both had increased serum lactate. Neither had other organ involvement. One sib died of pneumonia at 4 months of age.
Inheritance
The transmission pattern of EIEE75 in the family reported by Ciara et al. (2018) was consistent with autosomal recessive inheritance.
Molecular Genetics
In a Swedish boy with EIEE75, Sofou et al. (2015) identified compound heterozygous mutations in the PARS2 gene (612036.0001 and 612036.0002). The mutations, which were found by whole-exome sequencing and confirmed by Sanger sequencing, segregated with the disorder in the family. Western blot analysis of patient fibroblasts did not show decreased levels of prolyl-tRNA synthetase.
In 3 Polish sibs with EIEE75, Pronicka et al. (2016) and Ciara et al. (2018) identified compound heterozygous missense mutations in the PARS2 gene (P364R, 612036.0003 and I80T, 612036.0004). The mutations, which were found by whole-exome sequencing and confirmed by Sanger sequencing, segregated with the disorder in the family. The patients were initially ascertained from a cohort of 113 Polish patients with suspected mitochondrial disorders who underwent whole-exome sequencing (Pronicka et al., 2016). Functional studies of the variants and studies of patient cells were not performed.
In 2 Japanese sisters with EIEE75, Mizuguchi et al. (2017) identified compound heterozygous missense mutations in the PARS2 gene (V95I, 612036.0005 and E203K, 612036.0006). The mutations, which were found by whole-exome sequencing and confirmed by Sanger sequencing, segregated with the disorder in the family. Functional studies of the variants and studies of patient cells were not performed.
In 2 Chinese sisters with EIEE75, Yin et al. (2018) identified compound heterozygous missense mutations in the PARS2 gene (V95I and R202G, 612036.0007). The mutations, which were found by whole-exome sequencing and confirmed by Sanger sequencing, segregated with the disorder in the family. Functional studies of the variants and studies of patient cells were not performed, but each variant was classified as pathogenic according to ACMG guidelines.
INHERITANCE \- Autosomal recessive GROWTH Other \- Poor overall growth HEAD & NECK Head \- Microcephaly (down to -6 SD) Face \- Dysmorphic features (in some patients) \- Sloping forehead Eyes \- Pale optic disks \- Optic atrophy \- Cortical visual impairment Nose \- Broad nasal bridge \- Anteverted nares Mouth \- Open mouth CARDIOVASCULAR Heart \- Cardiomyopathy (in some patients) ABDOMEN Liver \- Liver dysfunction (in some patients) Gastrointestinal \- Poor feeding GENITOURINARY Kidneys \- Renal dysfunction (in some patients) MUSCLE, SOFT TISSUES \- Axial hypotonia NEUROLOGIC Central Nervous System \- Global developmental delay, profound \- Epileptic encephalopathy \- Seizures, refractory \- Hypsarrhythmia \- Impaired intellectual development \- Spasticity \- Hyperreflexia \- Extensor plantar responses \- Absent speech \- Frontal cortical atrophy \- Thin corpus callosum \- Cerebral atrophy \- Hypomyelination \- White matter abnormalities in the subcortical white matter and cerebellum LABORATORY ABNORMALITIES \- Serum or CSF lactate may be increased, but may be normal MISCELLANEOUS \- Onset in first months of life \- Early death may occur MOLECULAR BASIS \- Caused by mutation in the prolyl-tRNA synthetase 2 gene PARS2, 612036.0001 ▲ 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
| EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 75 | None | 29,228 | omim | https://www.omim.org/entry/618437 | 2019-09-22T15:41:57 | {"omim": ["618437"]} |
Closed-head injury is a type of traumatic brain injury in which the skull and dura mater remain intact. Closed-head injuries are the leading cause of death in children under 4 years old and the most common cause of physical disability and cognitive impairment in young people.[1][2] Overall, closed-head injuries and other forms of mild traumatic brain injury account for about 75% of the estimated 1.7 million brain injuries that occur annually in the United States.[3] Brain injuries such as closed-head injuries may result in lifelong physical, cognitive, or psychological impairment and, thus, are of utmost concern with regards to public health.[4]
## Contents
* 1 Symptoms
* 1.1 Common symptoms
* 1.2 Severe injury symptoms
* 1.3 Secondary symptoms
* 2 Causes
* 3 Diagnosis
* 3.1 Classification
* 3.1.1 Glasgow Coma Scale
* 3.1.2 ASCOT
* 3.1.3 Mechanism based
* 4 Treatments
* 4.1 Pharmacotherapy
* 4.2 Patient education
* 4.3 Cognitive rehabilitation
* 4.4 Other
* 5 Prevention
* 6 See also
* 7 References
## Symptoms[edit]
If symptoms of a head injury are seen after an accident, medical care is necessary to diagnose and treat the injury. Without medical attention, injuries can progress and cause further brain damage, disability, or death.[5]
### Common symptoms[edit]
Because the brain swelling that produces these symptoms is often a slow process, these symptoms may not surface for days to weeks after the injury.[5] Common symptoms of a closed-head injury include:
* headache
* dizziness
* nausea
* vomiting
* slurred speech
### Severe injury symptoms[edit]
Severe head injuries can lead to permanent vegetative states or death, therefore being able to recognize symptoms and get medical attention is very important. Symptoms of a severe closed-head injury include:
* coma or vegetative states
* seizures or convulsions
* loss of consciousness
### Secondary symptoms[edit]
Secondary symptoms are symptoms that surface during rehabilitation from the injury including social competence issues, depression, personality changes, cognitive disabilities, anxiety, and changes in sensory perception. More than 50% of patients who suffer from a traumatic brain injury will develop psychiatric disturbances.[6] Although precise rates of anxiety after brain injury are unknown, a 30-year follow-up study of 60 patients found 8.3% of patients developed a panic disorder, 1.7% developed an anxiety disorder, and 8.3% developed a specific phobia.[7] Patients recovering from a closed-head or traumatic brain injury often suffer from decreased self-esteem and depression. This effect is often attributed to difficulties re-entering society and frustration with the rehabilitation process. Patients who have suffered head injuries also show higher levels of unemployment, which can lead to the development of secondary symptoms.[8]
## Causes[edit]
Closed-head injuries are caused primarily by vehicular accidents, falls, acts of violence, and sports injuries.[4] Falls account for 35.2% of brain injuries in the United States, with rates highest for children ages 0–4 years and adults ages 75 years and older.[3] Head injuries are more common in men than women across every age group.[3] Boys aged 0–4 years have the highest rates of brain injury related hospital visits, hospitalizations, and deaths combined.[3] Multiple mild traumatic brain injuries sustained over a short period of time (hours to weeks), often seen with sports-related injuries, can result in major neurological or cognitive deficits or fatality.[9]
Blast-related traumatic brain injuries are often closed-head injuries and result from rapid changes in atmospheric pressure, objects dislodged by the blast hitting people, or people being thrown into motion by the blast [10] Blast-related injuries have shown a recent increase in occurrence with the return of veterans from Iraq such that traumatic brain injury has been coined the "signature injury" of Operation Iraqi Freedom [11]
Closed-head injuries can range from mild injuries to debilitating traumatic brain injuries and can lead to severe brain damage or death. Common closed-head injuries include:[5]
* concussion – a head injury resulting in temporary dysfunction of normal brain function. Almost half of the total concussions reported each year are sports-related [5]
* intracranial hematoma – a condition in which a blood vessel ruptures causing a pool of blood to form around the brain (subdural hematoma) or between the brain and the skull (epidural hematoma). Intracranial hematoma causes an increase in pressure on the brain and requires immediate medical attention.[5]
* cerebral contusion – a bruise to the brain tissue as a result of trauma. Contusions are local in nature, separating them from concussions.[5]
* diffuse axonal injury – These injuries are frequently seen in car accidents and cause permanent damage to the brain. Severe diffuse axonal injuries often lead to comas or vegetative states.[5]
## Diagnosis[edit]
### Classification[edit]
#### Glasgow Coma Scale[edit]
The Glasgow Coma Scale is commonly used to assess the severity of traumatic brain injuries, including closed-head injuries. The scale tests a patient's eye, verbal, and motor responses. The scale goes up to fifteen points; with fifteen being the most mild injury, less than eight being a severe brain injury, and three being a vegetative state.[12]
#### ASCOT[edit]
The ASCOT probability of survival encapsulates several of the variables measured in the Glasgow Coma Scale but also includes systolic blood pressure, respiration rates upon admission, and anatomic injuries. The ASCOT was found to be the most sensitive tool for determining severity of head injuries in children and is effective in predicting the outcome of injury.[1][13]
#### Mechanism based[edit]
A mechanism-based TBI classification system divides traumatic brain injuries (TBI) into closed and penetrating head trauma; based on the way in which the person was injured.[14]
## Treatments[edit]
There are several different types of treatment available to those who have suffered a closed-head injury. The treatment type chosen can depend on several factors including the type and severity of injury as well as the effects that injury has on the patient.[15] The course of treatment differs for each patient and can include several types of treatment, depending on the patient's specific needs. Early treatment is vital to recovering lost motor function after an injury, but cognitive abilities can be recovered regardless of time past since injury.[16]
### Pharmacotherapy[edit]
Pharmacotherapy is the utilization of drugs to treat an illness. There are several different drugs that have been used to alleviate symptoms experienced after a head injury including anti-depressants such as amitriptyline and sertraline. Use of these drugs has been associated with a decrease in depression and increased functioning in social and work environments.[15] An antidiuretic called Desmopressin Acetate (DDAVP) has also been shown to improve memory performance in patients[15] Recent studies have examined the preventative effects of progesterone on brain injuries. Phase III trials are currently being conducted at 17 medical centers across the United States. Preliminary results have shown a 50% reduction in mortality in those treated with progesterone and showed an improved functional outcome.[17] Overall, the efficacy of pharmacotherapeutic treatments is dependent on the treatment being used and the symptoms being targeted by the treatment.
### Patient education[edit]
Patient education has been shown to be one of the most effective ways to decrease secondary symptoms seen with closed-head injuries. Patient education often includes working with a therapist to review symptom management and learn about returning to regular activities.[15] Educational initiatives have also been shown to decrease the occurrence of PTSD in head-injury survivors.[15]
### Cognitive rehabilitation[edit]
Many patients with severe injuries need therapy to regain basic motor and cognitive skills. Cognitive rehabilitation aims to improve attention, memory function, and cognitive-processing speed. The type of rehabilitation used is tailored to the patient's clinical needs depending on the severity and type of injury sustained.[15]
### Other[edit]
Other types of rehabilitation focus on raising patient's self-esteem by giving him tasks that can be successfully completed despite any cognitive changes as a result of the brain injury. This process can help decrease secondary symptoms such as feelings of worthlessness, depression, and social anxiety.[18] Some rehabilitation programs use team-building exercises and problem-solving activities to help the patients learn to work with their disabilities.[15]
## Prevention[edit]
Many closed-head injuries can be prevented by proper use of safety equipment during dangerous activities. Common safety features that can reduce the likelihood of experiencing a brain injury include helmets, hard hats, car seats, and safety belts. Another safety precaution that can decrease a person's risk for brain injury is not to drink and drive or allow oneself to be driven by a person who has been drinking or who is otherwise impaired.[19]
Helmets can be used to decrease closed-head injuries acquired during athletic activities, and are considered necessary for sports such as American "tackle" football, where frequent head impacts are a normal part of the game. However, recent studies have questioned the effectiveness of even American football helmets, where the assumed protection of helmets promotes far more head impacts, a behavior known as risk compensation. The net result seems to have been an increase, not decrease, in injuries.[20] The similar sports of Australian-rules football and rugby are always played helmetless, and see far fewer traumatic brain injuries. (See Australian rules football injuries.)
Bicycle helmets are perhaps the most promoted variety of helmet, based on the assumption that cycling without a helmet is a dangerous activity, with a large risk of serious brain injury. However, available data clearly shows that to be false. Cycling (with approximately 700 American fatalities per year from all medical causes) is a very minor source of fatal traumatic brain injury, whose American total is approximately 52,000 per year.[21] Similarly, bicycling causes only 3% of America's non-fatal traumatic brain injury.
Still, bicycle-helmet promotion campaigns are common, and many U.S jurisdictions have enacted mandatory bicycle-helmet laws for children. A few such jurisdictions, a few Canadian provinces, plus Australia and New Zealand mandate bicycle helmets even for adults. A bicycle-helmet educational campaign directed toward children claimed an increase in helmet use from 5.5% to 40.2% leading to a claimed decrease in bicycle-related head injuries by nearly 67%.[22] However, other sources have shown that bicycle-helmet promotion reduces cycling, often with no per-cyclist reduction in traumatic brain injury.[23][24]
Estimates of bicycle-helmet use by American adults vary. One study found that only 25-30% of American adults wear helmets while riding bicycles,[25] despite decades of promotion and despite sport cyclists' adoption of helmets as part of their uniform.
Following the commercial (as opposed to public-health) success of bicycle helmets, there have been successful attempts to promote the sale of ski helmets. Again, results have been less than impressive, with great increases in helmet use yielding no reduction in fatalities, and with most injury reduction confined to lacerations, contusions, and minor concussions, as opposed to more serious head injuries.[26]
There have been rare campaigns for motoring helmets.[27] Unfortunately, just as people greatly overestimate the traumatic brain injury danger of bicycling, they greatly underestimate the risk of motoring, which remains the largest source of traumatic brain injury in the developed world, despite the protective effects of seatbelts and airbags.
## See also[edit]
* Cerebral contusion
* Concussion
* Diffuse axonal injury
* Intracranial hemorrhage
* Traumatic brain injury
## References[edit]
1. ^ a b Ibrahim, Nicole G.; Ralston, Jill; Smith, Colin; Margulies, Susan S. (2010). "Physiological and Pathological Responses to Head Rotations in Toddler Piglets". Journal of Neurotrauma. 27 (6): 1021–35. doi:10.1089/neu.2009.1212. PMC 2943503. PMID 20560753.
2. ^ Cossa, F.M.; Fabiani, M. (1999). "Attention in closed head injury: a critical review". The Italian Journal of Neurological Sciences. 20 (3): 145–53. doi:10.1007/s100720050024. PMID 10541596.
3. ^ a b c d Faul, Mark; Xu, Likang; Wald, Marlena M.; Coronado, Victor G. (2010). "Traumatic Brain Injury in the United States: Emergency Department Visits, Hospitalizations and Deaths 2002-2006". National Center for Injury Prevention and Control.
4. ^ a b Nih Consensus Development Panel On Rehabilitation Of Persons With Traumatic Brain Injury (1999). "Consensus conference. Rehabilitation of persons with traumatic brain injury. NIH Consensus Development Panel on Rehabilitation of Persons With Traumatic Brain Injury". JAMA. 282 (10): 974–83. doi:10.1001/jama.282.10.974. PMID 10485684.
5. ^ a b c d e f g http://www.allabouttbi.com/symptoms.htm[full citation needed][permanent dead link]
6. ^ Rao, Vani; Lyketsos, Constantine G. (2003). "Editorial Psychiatric aspects of traumatic brain injury: new solutions to an old problem". International Review of Psychiatry. 15 (4): 299–301. doi:10.1080/09540260310001606674.
7. ^ Koponen, Salla; Taiminen, Tero; Portin, Raija; Himanen, Leena; Isoniemi, Heli; Heinonen, Hanna; Hinkka, Susanna; Tenovuo, Olli (2002). "Axis I and II Psychiatric Disorders After Traumatic Brain Injury: A 30-Year Follow-Up Study". American Journal of Psychiatry. 159 (8): 1315–21. doi:10.1176/appi.ajp.159.8.1315. PMID 12153823. S2CID 18676013.
8. ^ Kissinger, Daniel B. (2008). "Traumatic brain injury and employment outcomes: integration of the working alliance model". Work. 31 (3): 309–17. PMID 19029672.
9. ^ Centers for Disease Control Prevention (CDC) (1997). "Sports-Related Recurrent Brain Injuries -- United States". MMWR. 46 (10): 224–7. PMID 9082176.
10. ^ Taber, K. H.; Warden, D. L.; Hurley, R. A. (2006). "Blast-Related Traumatic Brain Injury: What Is Known?". Journal of Neuropsychiatry. 18 (2): 141–5. doi:10.1176/jnp.2006.18.2.141. PMID 16720789.
11. ^ Vasterling, Jennifer J.; Verfaellie, Mieke; Sullivan, Karen D. (2009). "Mild traumatic brain injury and posttraumatic stress disorder in returning veterans: Perspectives from cognitive neuroscience". Clinical Psychology Review. 29 (8): 674–84. doi:10.1016/j.cpr.2009.08.004. PMID 19744760.
12. ^ Morrow, Stephen E.; Pearson, Matthew (2010). "Management Strategies for Severe Closed Head Injuries in Children". Seminars in Pediatric Surgery. 19 (4): 279–85. doi:10.1053/j.sempedsurg.2010.07.001. PMID 20889084.
13. ^ Gotschall, Catherine S.; Papero, Patricia H.; Snyder, Heather M.; Johnson, Dennis L.; Sacco, William J.; Eichelberger, Martin R. (1995). "Comparison of Three Measures of Injury Severity in Children with Traumatic Brain Injury". Journal of Neurotrauma. 12 (4): 611–9. doi:10.1089/neu.1995.12.611. PMID 8683612.
14. ^ Maas, Andrew IR; Stocchetti, Nino; Bullock, Ross (2008). "Moderate and severe traumatic brain injury in adults". The Lancet Neurology. 7 (8): 728–41. doi:10.1016/S1474-4422(08)70164-9. PMID 18635021.
15. ^ a b c d e f g Comper, P.; Bisschop, S. M.; Carnide, N.; Tricco, A. (2005). "A systematic review of treatments for mild traumatic brain injury". Brain Injury. 19 (11): 863–80. doi:10.1080/02699050400025042. PMID 16296570.
16. ^ Interview with Dr. Anthony Stringer, Emory University, Department of Rehabilitation Medicine[verification needed]
17. ^ "Progesterone for traumatic brain injury tested in phase III clinical trial" (Press release). Emory University. February 22, 2010. Retrieved August 19, 2015.
18. ^ http://whqlibdoc.who.int/hq/2004/WHO_DAR_01.9_eng.pdf[full citation needed][permanent dead link]
19. ^ MedlinePlus Encyclopedia: Head injury - first aid
20. ^ Albergotti, Reed; Wang, Shirley S. (11 November 2009). "Is It Time to Retire the Football Helmet?". The Wall Street Journal.
21. ^ https://www.cdc.gov/traumaticbraininjury/statistics.html[full citation needed]
22. ^ Sandel, M.Elizabeth; Bell, Kathleen R.; Michaud, Linda J. (1998). "Traumatic brain injury: Prevention, pathophysiology, and outcome prediction". Archives of Physical Medicine and Rehabilitation. 79 (3): S3–S9. doi:10.1016/S0003-9993(98)90113-7. INIST:2242542.
23. ^ http://www.cyclehelmets.org/1041.html[full citation needed][permanent dead link]
24. ^ Robinson, D.L. (1996). "Head injuries and bicycle helmet laws". Accident Analysis & Prevention. 28 (4): 463–75. doi:10.1016/0001-4575(96)00016-4. PMID 8870773.
25. ^ Rosenkranz, Kari M.; Sheridan, Robert L. (2003). "Trauma to adult bicyclists: a growing problem in the urban environment". Injury. 34 (11): 825–9. doi:10.1016/S0020-1383(02)00389-3. PMID 14580814.
26. ^ "Archived copy". Archived from the original on 2007-02-08. Retrieved 2011-09-24.CS1 maint: archived copy as title (link)[full citation needed]
27. ^ http://casr.adelaide.edu.au/developments/headband/[full citation needed][permanent dead link]
*[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
| Closed-head injury | c0085094 | 29,229 | wikipedia | https://en.wikipedia.org/wiki/Closed-head_injury | 2021-01-18T18:37:54 | {"mesh": ["D016489"], "wikidata": ["Q5135341"]} |
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Lucey–Driscoll syndrome
Other namesTransient familial neonatal hyperbilirubinemia
Lucey–Driscoll syndrome has an autosomal recessive pattern of inheritance.
SpecialtyDiseasesDB = 32677
Lucey–Driscoll syndrome is an autosomal recessive metabolic disorder affecting enzymes involved in bilirubin metabolism.[1] It is one of several disorders classified as a transient familial neonatal unconjugated hyperbilirubinemia.
## Contents
* 1 Cause
* 2 Genetics
* 3 Diagnosis
* 4 Treatment
* 5 References
* 6 External links
## Cause[edit]
The common cause is congenital, but it can also be caused by maternal steroids passed on through breast milk to the newborn. It is different from breast feeding-associated jaundice (breast-fed infants have higher bilirubin levels than formula-fed ones).
## Genetics[edit]
A defect in the UGT1A1-gene, also linked to Crigler–Najjar syndrome and Gilbert's syndrome, is responsible for the congenital form of Lucey–Driscoll syndrome.
## Diagnosis[edit]
This section is empty. You can help by adding to it. (August 2017)
## Treatment[edit]
This section is empty. You can help by adding to it. (August 2017)
## References[edit]
1. ^ "Lucey-Driscoll syndrome | Genetic and Rare Diseases Information Center (GARD) – an NCATS Program". rarediseases.info.nih.gov. Retrieved 2017-08-27.
## External links[edit]
Classification
D
* ICD-10: P59.8
* ICD-9-CM: 774.30
* OMIM: 237900
* MeSH: C562692
External resources
* Orphanet: 2312
* Online Mendelian Inheritance in Man (OMIM): 237900 \- transient familial neonatal hyperbilirubinemia, breast feeding jaundice included
* v
* t
* e
Heme metabolism disorders
Porphyria,
hepatic and erythropoietic
(porphyrin)
early mitochondrial:
* ALAD porphyria
* Acute intermittent porphyria
cytoplasmic:
* Gunther disease/congenital erythropoietic porphyria
* Porphyria cutanea tarda/Hepatoerythropoietic porphyria
late mitochondrial:
* Hereditary coproporphyria
* Harderoporphyria
* Variegate porphyria
* Erythropoietic protoporphyria
Hereditary hyperbilirubinemia
(bilirubin)
unconjugated:
* Gilbert's syndrome
* Crigler–Najjar syndrome
* Lucey–Driscoll syndrome
conjugated:
* Dubin–Johnson syndrome nd sheet
* Rotor syndrome
This genetic disorder 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
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Common viral infectious disease
"Mononucleosis" redirects here. For excessive monocyte counts more generally, see Monocytosis.
Infectious mononucleosis
Other namesGlandular fever, Pfeiffer's disease, Filatov's disease,[1] kissing disease
Swollen lymph nodes in the neck of a person with infectious mononucleosis
SpecialtyInfectious disease
SymptomsFever, sore throat, enlarged lymph nodes in the neck, tiredness[2]
ComplicationsSwelling of the liver or spleen[3]
Duration2–4 weeks[2]
CausesEpstein–Barr virus (EBV) usually spread via saliva[2]
Diagnostic methodBased on symptoms and blood tests[3]
TreatmentDrinking enough fluids, getting sufficient rest, pain medications such as paracetamol (acetaminophen) and ibuprofen[2][4]
Frequency45 per 100,000 per year (U.S.)[5]
Infectious mononucleosis (IM, mono), also known as glandular fever, is an infection usually caused by the Epstein–Barr virus (EBV).[2][3] Most people are infected by the virus as children, when the disease produces few or no symptoms.[2] In young adults, the disease often results in fever, sore throat, enlarged lymph nodes in the neck, and tiredness.[2] Most people recover in two to four weeks; however, feeling tired may last for months.[2] The liver or spleen may also become swollen,[3] and in less than one percent of cases splenic rupture may occur.[6]
While usually caused by Epstein–Barr virus, also known as human herpesvirus 4, which is a member of the herpesvirus family,[3] a few other viruses may also cause the disease.[3] It is primarily spread through saliva but can rarely be spread through semen or blood.[2] Spread may occur by objects such as drinking glasses or toothbrushes or through a cough or sneeze.[2][7] Those who are infected can spread the disease weeks before symptoms develop.[2] Mono is primarily diagnosed based on the symptoms and can be confirmed with blood tests for specific antibodies.[3] Another typical finding is increased blood lymphocytes of which more than 10% are atypical.[3][8] The monospot test is not recommended for general use due to poor accuracy.[9]
There is no vaccine for EBV, but infection can be prevented by not sharing personal items or saliva with an infected person.[2] Mono generally improves without any specific treatment.[2] Symptoms may be reduced by drinking enough fluids, getting sufficient rest, and taking pain medications such as paracetamol (acetaminophen) and ibuprofen.[2][4]
Mono most commonly affects those between the ages of 15 to 24 years in the developed world.[8] In the developing world, people are more often infected in early childhood when there are fewer symptoms.[10] In those between 16 and 20 it is the cause of about 8% of sore throats.[8] About 45 out of 100,000 people develop infectious mono each year in the United States.[5] Nearly 95% of people have had an EBV infection by the time they are adults.[5] The disease occurs equally at all times of the year.[8] Mononucleosis was first described in the 1920s and colloquially known as "the kissing disease".[11]
## Contents
* 1 Signs and symptoms
* 1.1 Children
* 1.2 Adolescents and young adults
* 1.3 Complications
* 1.4 Older adults
* 1.5 Incubation period
* 2 Cause
* 2.1 Epstein–Barr virus
* 2.2 Cytomegalovirus
* 2.3 Transmission
* 3 Pathophysiology
* 4 Diagnosis
* 4.1 Physical examination
* 4.2 Heterophile antibody test
* 4.3 Serology
* 4.4 Other tests
* 4.5 Differential diagnosis
* 5 Treatment
* 5.1 Medications
* 5.2 Observation
* 6 Prognosis
* 7 History
* 8 References
* 9 External links
## Signs and symptoms[edit]
Main symptoms of infectious mononucleosis[12]
Exudative pharyngitis in a person with infectious mononucleosis
Rash from using penicillin while infected with IM.[13]
The signs and symptoms of infectious mononucleosis vary with age.
### Children[edit]
Before puberty, the disease typically only produces flu-like symptoms, if any at all. When found, symptoms tend to be similar to those of common throat infections (mild pharyngitis, with or without tonsillitis).[13]
### Adolescents and young adults[edit]
In adolescence and young adulthood, the disease presents with a characteristic triad:[14]
* Fever – usually lasting 14 days;[15] often mild[13]
* Sore throat – usually severe for 3–5 days, before resolving in the next 7–10 days.[16]
* Swollen glands – mobile; usually located around the back of the neck (posterior cervical lymph nodes) and sometimes throughout the body.[8][13][17]
Another major symptom is feeling tired.[2] Headaches are common, and abdominal pains with nausea or vomiting sometimes also occur.[14] Symptoms most often disappear after about 2–4 weeks.[2][18] However, fatigue and a general feeling of being unwell (malaise) may sometimes last for months.[13] Fatigue lasts more than one month in an estimated 28% of cases.[19] Mild fever, swollen neck glands and body aches may also persist beyond 4 weeks.[13][20][21] Most people are able to resume their usual activities within 2–3 months.[20]
The most prominent sign of the disease is often the pharyngitis, which is frequently accompanied by enlarged tonsils with pus—an exudate similar to that seen in cases of strep throat.[13] In about 50% of cases, small reddish-purple spots called petechiae can be seen on the roof of the mouth.[21] Palatal enanthem can also occur, but is relatively uncommon.[13]
A small minority of people spontaneously present a rash, usually on the arms or trunk, which can be macular (morbilliform) or papular.[13] Almost all people given amoxicillin or ampicillin eventually develop a generalized, itchy maculopapular rash, which however does not imply that the person will have adverse reactions to penicillins again in the future.[13][18] Occasional cases of erythema nodosum and erythema multiforme have been reported.[13] Seizures may also occasionally occur.[22]
### Complications[edit]
Spleen enlargement is common in the second and third weeks, although this may not be apparent on physical examination. Rarely the spleen may rupture.[23] There may also be some enlargement of the liver.[21] Jaundice occurs only occasionally.[13][24]
It generally gets better on its own in people who are otherwise healthy.[25] When caused by EBV, infectious mononucleosis is classified as one of the Epstein-Barr virus-associated lymphoproliferative diseases. Occasionally the disease may persist and result in a chronic infection. This may develop into systemic EBV-positive T cell lymphoma.[25]
### Older adults[edit]
Infectious mononucleosis mainly affects younger adults.[13] When older adults do catch the disease, they less often have characteristic signs and symptoms such as the sore throat and lymphadenopathy.[13][21] Instead, they may primarily experience prolonged fever, fatigue, malaise and body pains.[13] They are more likely to have liver enlargement and jaundice.[21] People over 40 years of age are more likely to develop serious illness.[26] (See Prognosis.)
### Incubation period[edit]
The exact length of time between infection and symptoms is unclear. A review of the literature made an estimate of 33–49 days.[27] In adolescents and young adults, symptoms are thought to appear around 4–6 weeks after initial infection.[13] Onset is often gradual, though it can be abrupt.[26] The main symptoms may be preceded by 1–2 weeks of fatigue, feeling unwell and body aches.[13]
## Cause[edit]
### Epstein–Barr virus[edit]
About 90% of cases of infectious mononucleosis are caused by the Epstein–Barr virus, a member of the Herpesviridae family of DNA viruses. It is one of the most commonly found viruses throughout the world. Contrary to common belief, the Epstein–Barr virus is not highly contagious. It can only be contracted through direct contact with an infected person's saliva, such as through kissing or sharing toothbrushes.[28] About 95% of the population has been exposed to this virus by the age of 40, but only 15–20% of teenagers and about 40% of exposed adults actually become infected.[29]
### Cytomegalovirus[edit]
A minority of cases of infectious mononucleosis is caused by human cytomegalovirus (CMV), another type of herpes virus. This virus is found in body fluids including saliva, urine, blood, and tears.[30] A person becomes infected with this virus by direct contact with infected body fluids. Cytomegalovirus is most commonly transmitted through kissing and sexual intercourse. It can also be transferred from an infected mother to her unborn child. This virus is often "silent" because the signs and symptoms cannot be felt by the person infected.[30] However, it can cause life-threatening illness in infants, people with HIV, transplant recipients, and those with weak immune systems. For those with weak immune systems, cytomegalovirus can cause more serious illnesses such as pneumonia and inflammations of the retina, esophagus, liver, large intestine, and brain. Approximately 90% of the human population has been infected with cytomegalovirus by the time they reach adulthood, but most are unaware of the infection.[31] Once a person becomes infected with cytomegalovirus, the virus stays in his/her body fluids throughout the person's lifetime.
### Transmission[edit]
Epstein–Barr virus infection is spread via saliva, and has an incubation period of four to seven weeks.[32] The length of time that an individual remains contagious is unclear, but the chances of passing the illness to someone else may be the highest during the first six weeks following infection. Some studies indicate that a person can spread the infection for many months, possibly up to a year and a half.[33]
## Pathophysiology[edit]
The virus replicates first within epithelial cells in the pharynx (which causes pharyngitis, or sore throat), and later primarily within B cells (which are invaded via their CD21). The host immune response involves cytotoxic (CD8-positive) T cells against infected B lymphocytes, resulting in enlarged, atypical lymphocytes (Downey cells).[34]
When the infection is acute (recent onset, instead of chronic), heterophile antibodies are produced.[21]
Cytomegalovirus, adenovirus and Toxoplasma gondii (toxoplasmosis) infections can cause symptoms similar to infectious mononucleosis, but a heterophile antibody test will test negative and differentiate those infections from infectious mononucleosis.[2][35]
Mononucleosis is sometimes accompanied by secondary cold agglutinin disease, an autoimmune disease in which abnormal circulating antibodies directed against red blood cells can lead to a form of autoimmune hemolytic anemia. The cold agglutinin detected is of anti-i specificity.[36][37]
## Diagnosis[edit]
Infectious mononucleosis, peripheral smear, high power showing reactive lymphocytes
Splenomegaly due to mononucleosis resulting in a subcapsular hematoma
Splenomegaly due to mononucleosis resulting in a subcapsular hematoma
Diagnostic modalities for infectious mononucleosis include:
* Person's age, with highest risk at 10 to 30 years.[21]
* Medical history, such as close contact with other people with infectious mononucleosis, and the presence and time of onset of "mononucleosis-like symptoms" such as fever and sore throat.
* Physical examination, including palpation of any enlarged lymph nodes in the neck, or enlarged spleen.[38]
* The heterophile antibody test is a screening test that gives results within a day,[39] but has significantly less than full sensitivity (70–92%) in the first two weeks after clinical symptoms begin.[21][40]
* Serological tests take longer time than the heterophile antibody test, but are more accurate.
### Physical examination[edit]
The presence of an enlarged spleen, and swollen posterior cervical, axillary, and inguinal lymph nodes are the most useful to suspect a diagnosis of infectious mononucleosis. On the other hand, the absence of swollen cervical lymph nodes and fatigue are the most useful to dismiss the idea of infectious mononucleosis as the correct diagnosis. The insensitivity of the physical examination in detecting an enlarged spleen means it should not be used as evidence against infectious mononucleosis.[21] A physical examination may also show petechiae in the palate.[21]
### Heterophile antibody test[edit]
Main article: Heterophile antibody test
The heterophile antibody test, or monospot test, works by agglutination of red blood cells from guinea pig, sheep and horse. This test is specific but not particularly sensitive (with a false-negative rate of as high as 25% in the first week, 5–10% in the second, and 5% in the third).[21] About 90% of diagnosed people have heterophile antibodies by week 3, disappearing in under a year. The antibodies involved in the test do not interact with the Epstein–Barr virus or any of its antigens.[41]
The monospot test is not recommended for general use by the CDC due to its poor accuracy.[9]
### Serology[edit]
Serologic tests detect antibodies directed against the Epstein–Barr virus. Immunoglobulin G (IgG), when positive, mainly reflects a past infection, whereas immunoglobulin M (IgM) mainly reflects a current infection. EBV-targeting antibodies can also be classified according to which part of the virus they bind to:
* Viral capsid antigen (VCA):
* Anti-VCA IgM appear early after infection, and usually disappear within 4 to 6 weeks.[9]
* Anti-VCA IgG appears in the acute phase of EBV infection, reaches a maximum at 2 to 4 weeks after onset of symptoms and thereafter declines slightly and persists for the rest of a person’s life.[9]
* Early antigen (EA)
* Anti-EA IgG appears in the acute phase of illness and disappears after 3 to 6 months. It is associated with having an active infection. Yet, 20% of people may have antibodies against EA for years despite having no other sign of infection.[9]
* EBV nuclear antigen (EBNA)
* Antibody to EBNA slowly appears 2 to 4 months after onset of symptoms and persists for the rest of a person’s life.[9]
When negative, these tests are more accurate than the heterophile antibody test in ruling out infectious mononucleosis. When positive, they feature similar specificity to the heterophile antibody test. Therefore, these tests are useful for diagnosing infectious mononucleosis in people with highly suggestive symptoms and a negative heterophile antibody test.
### Other tests[edit]
* Epstein–Barr nuclear antigen detection. While it is not normally recognizable until several weeks into the disease, and is useful for distinguishing between a recent-onset of infectious mononucleosis and symptoms caused by a previous infection.
* Elevated hepatic transaminase levels is highly suggestive of infectious mononucleosis, occurring in up to 50% of people.[21]
* By blood film, one diagnostic criterion for infectious mononucleosis is the presence of 50% lymphocytes with at least 10% atypical lymphocytes (large, irregular nuclei),[41] while the person also has fever, pharyngitis, and swollen lymph nodes. The atypical lymphocytes resembled monocytes when they were first discovered, thus the term "mononucleosis" was coined.
* A fibrin ring granuloma may be present.
### Differential diagnosis[edit]
About 10% of people who present a clinical picture of infectious mononucleosis do not have an acute Epstein–Barr-virus infection.[42] A differential diagnosis of acute infectious mononucleosis needs to take into consideration acute cytomegalovirus infection and Toxoplasma gondii infections. Because their management is much the same, it is not always helpful, or possible, to distinguish between Epstein–Barr-virus mononucleosis and cytomegalovirus infection. However, in pregnant women, differentiation of mononucleosis from toxoplasmosis is important, since it is associated with significant consequences for the fetus.[citation needed]
Acute HIV infection can mimic signs similar to those of infectious mononucleosis, and tests should be performed for pregnant women for the same reason as toxoplasmosis.[21]
People with infectious mononucleosis are sometimes misdiagnosed with a streptococcal pharyngitis (because of the symptoms of fever, pharyngitis and adenopathy) and are given antibiotics such as ampicillin or amoxicillin as treatment.[citation needed]
Other conditions from which to distinguish infectious mononucleosis include leukemia, tonsillitis, diphtheria, common cold and influenza (flu).[41]
## Treatment[edit]
Infectious mononucleosis is generally self-limiting, so only symptomatic or supportive treatments are used.[43] The need for rest and return to usual activities after the acute phase of the infection may reasonably be based on the person's general energy levels.[21] Nevertheless, in an effort to decrease the risk of splenic rupture experts advise avoidance of contact sports and other heavy physical activity, especially when involving increased abdominal pressure or the Valsalva maneuver (as in rowing or weight training), for at least the first 3–4 weeks of illness or until enlargement of the spleen has resolved, as determined by a treating physician.[21][44]
### Medications[edit]
Paracetamol (acetaminophen) and NSAIDs, such as ibuprofen, may be used to reduce fever and pain. Prednisone, a corticosteroid, while used to try to reduce throat pain or enlarged tonsils, remains controversial due to the lack of evidence that it is effective and the potential for side effects.[45][46] Intravenous corticosteroids, usually hydrocortisone or dexamethasone, are not recommended for routine use but may be useful if there is a risk of airway obstruction, a very low platelet count, or hemolytic anemia.[47][48]
There is little evidence to support the use of antivirals such as aciclovir and valacyclovir although they may reduce initial viral shedding.[49][50] Although antivirals are not recommended for people with simple infectious mononucleosis, they may be useful (in conjunction with steroids) in the management of severe EBV manifestations, such as EBV meningitis, peripheral neuritis, hepatitis, or hematologic complications.[51]
Although antibiotics exert no antiviral action they may be indicated to treat bacterial secondary infections of the throat,[52] such as with streptococcus (strep throat). However, ampicillin and amoxicillin are not recommended during acute Epstein–Barr virus infection as a diffuse rash may develop.[53]
### Observation[edit]
Splenomegaly is a common symptom of infectious mononucleosis and health care providers may consider using abdominal ultrasonography to get insight into the enlargement of a person's spleen.[54] However, because spleen size varies greatly, ultrasonography is not a valid technique for assessing spleen enlargement and should not be used in typical circumstances or to make routine decisions about fitness for playing sports.[54]
## Prognosis[edit]
Serious complications are uncommon, occurring in less than 5% of cases:[55][56]
* CNS complications include meningitis, encephalitis, hemiplegia, Guillain–Barré syndrome, and transverse myelitis. Prior infectious mononucleosis has been linked to the development of multiple sclerosis.[57]
* Hematologic: Hemolytic anemia (direct Coombs test is positive) and various cytopenias, and bleeding (caused by thrombocytopenia) can occur.[36]
* Mild jaundice
* Hepatitis with the Epstein–Barr virus is rare.
* Upper airway obstruction from tonsillar hypertrophy is rare.
* Fulminant disease course of immunocompromised people are rare.
* Splenic rupture is rare.
* Myocarditis and pericarditis are rare.
* Postural orthostatic tachycardia syndrome
* Chronic fatigue syndrome
* Cancers associated with the Epstein-Barr virus include: Burkitt's lymphoma, Hodgkin's lymphoma and lymphomas in general as well as nasopharyngeal and gastric carcinoma.[58]
Once the acute symptoms of an initial infection disappear, they often do not return. But once infected, the person carries the virus for the rest of their life. The virus typically lives dormantly in B lymphocytes. Independent infections of mononucleosis may be contracted multiple times, regardless of whether the person is already carrying the virus dormantly. Periodically, the virus can reactivate, during which time the person is again infectious, but usually without any symptoms of illness.[2] Usually, a person with IM has few, if any, further symptoms or problems from the latent B lymphocyte infection. However, in susceptible hosts under the appropriate environmental stressors, the virus can reactivate and cause vague physical symptoms (or may be subclinical), and during this phase the virus can spread to others.[2][59][60]
## History[edit]
Further information: Epstein–Barr virus § History
The characteristic symptomatology of infectious mononucleosis does not appear to have been reported until the late nineteenth century.[61] In 1885, the renowned Russian pediatrician Nil Filatov reported an infectious process he called "idiopathic adenitis" exhibiting symptoms that correspond to infectious mononucleosis, and in 1889 a German balneologist and pediatrician, Emil Pfeiffer, independently reported similar cases (some of lesser severity) that tended to cluster in families, for which he coined the term Drüsenfieber ("glandular fever").[62][63][64]
The word mononucleosis has several senses.[65] It can refer to any monocytosis (excessive numbers of circulating monocytes),[65] but today it usually is used in its narrower sense of infectious mononucleosis, which is caused by EBV and of which monocytosis is a finding.
The term "infectious mononucleosis" was coined in 1920 by Thomas Peck Sprunt and Frank Alexander Evans in a classic clinical description of the disease published in the Bulletin of the Johns Hopkins Hospital, entitled "Mononuclear leukocytosis in reaction to acute infection (infectious mononucleosis)".[62][66] A lab test for infectious mononucleosis was developed in 1931 by Yale School of Public Health Professor John Rodman Paul and Walls Willard Bunnell based on their discovery of heterophile antibodies in the sera of persons with the disease.[67] The Paul-Bunnell Test or PBT was later replaced by the heterophile antibody test.
The Epstein–Barr virus was first identified in Burkitt's lymphoma cells by Michael Anthony Epstein and Yvonne Barr at the University of Bristol in 1964. The link with infectious mononucleosis was uncovered in 1967 by Werner and Gertrude Henle at the Children's Hospital of Philadelphia, after a laboratory technician handling the virus contracted the disease: comparison of serum samples collected from the technician before and after the onset revealed development of antibodies to the virus.[68][69]
Yale School of Public Health epidemiologist Alfred E. Evans confirmed through testing that mononucleosis was transmitted mainly through kissing leading to it being referred to colloquially as "the kissing disease".[70]
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30. ^ a b Larsen, Laura. Sexually Transmitted Diseases Sourcebook. Health Reference Series Detroit: Omnigraphics, Inc., 2009. Online.
31. ^ Carson-DeWitt and Teresa G. The Gale Encyclopedia of Medicine. Vol. 2. 3rd ed. Detroit: Gale, 2006.
32. ^ Cozad J (March 1996). "Infectious mononucleosis". The Nurse Practitioner. 21 (3): 14–6, 23, 27–8. doi:10.1097/00006205-199603000-00002. PMID 8710247. S2CID 11827600.
33. ^ Elana Pearl Ben-Joseph. "How Long Is Mono Contagious?". Kidshealth.org. Archived from the original on 2016-11-19. Retrieved 2016-11-19. Date reviewed: January 2013
34. ^ ped/705 at eMedicine
35. ^ "The Lymphatic System". Lymphangiomatosis & Gorham's disease Alliance. Archived from the original on 2010-01-28. Retrieved 2010-02-08.
36. ^ a b Ghosh, Amit K.; Habermann, Thomas (2007). Mayo Clinic Internal Medicine Concise Textbook. Informa Healthcare. ISBN 978-1-4200-6749-1.
37. ^ Rosenfield RE; Schmidt PJ; Calvo RC; McGinniss MH (1965). "Anti-i, a frequent cold agglutinin in infectious mononucleosis". Vox Sanguinis. 10 (5): 631–634. doi:10.1111/j.1423-0410.1965.tb01418.x. PMID 5864820. S2CID 30926697.
38. ^ Hoagland RJ (June 1975). "Infectious mononucleosis". Primary Care. 2 (2): 295–307. PMID 1046252.
39. ^ "Mononucleosis". Mayo Clinic. 2017-08-03. Archived from the original on 2016-11-19. Retrieved 2017-08-06.
40. ^ Elgh, F; Linderholm, M (1996). "Evaluation of six commercially available kits using purified heterophile antigen for the rapid diagnosis of infectious mononucleosis compared with Epstein-Barr virus-specific serology". Clinical and Diagnostic Virology. 7 (1): 17–21. doi:10.1016/S0928-0197(96)00245-0. PMID 9077426.
41. ^ a b c Longmore, Murray; Ian Wilkinson; Tom Turmezei; Chee Kay Cheung (2007). Oxford Handbook of Clinical Medicine, 7th edition. Oxford University Press. p. 389. ISBN 978-0-19-856837-7.
42. ^ Bravender, T (August 2010). "Epstein-Barr virus, cytomegalovirus, and infectious mononucleosis". Adolescent Medicine: State of the Art Reviews. 21 (2): 251–64, ix. PMID 21047028.
43. ^ Mark H. Beers ... (2006). Beers MH, Porter RS, Jones TV, Kaplan JL, Berkwits M (eds.). The Merck manual of diagnosis and therapy (18th ed.). Whitehouse Station (NJ): Merck Research Laboratories. ISBN 978-0-911910-18-6.
44. ^ Putukian, M; O'Connor, FG; Stricker, P; McGrew, C; Hosey, RG; Gordon, SM; Kinderknecht, J; Kriss, V; Landry, G (July 2008). "Mononucleosis and athletic participation: an evidence-based subject review" (PDF). Clinical Journal of Sport Medicine. 18 (4): 309–15. doi:10.1097/JSM.0b013e31817e34f8. PMID 18614881. S2CID 23780443. Archived from the original (PDF) on 23 September 2013. Retrieved 18 June 2013.
45. ^ National Center for Emergency Medicine Informatics - Mononucleosis "Mononucleosis (Glandular Fever)". Archived from the original on 2009-05-15. Retrieved 2009-09-11.
46. ^ Rezk, Emtithal; Nofal, Yazan H.; Hamzeh, Ammar; Aboujaib, Muhammed F.; AlKheder, Mohammad A.; Al Hammad, Muhammad F. (2015-11-08). "Steroids for symptom control in infectious mononucleosis". The Cochrane Database of Systematic Reviews (11): CD004402. doi:10.1002/14651858.CD004402.pub3. ISSN 1469-493X. PMC 7047551. PMID 26558642.
47. ^ "Infectious Mononucleosis". WebMD. January 24, 2006. Archived from the original on July 6, 2006. Retrieved 2006-07-10.
48. ^ Antibiotic Expert Group. Therapeutic guidelines: Antibiotic. 13th ed. North Melbourne: Therapeutic Guidelines; 2006.
49. ^ Torre D, Tambini R; Tambini (1999). "Acyclovir for treatment of infectious mononucleosis: a meta-analysis". Scand. J. Infect. Dis. 31 (6): 543–47. doi:10.1080/00365549950164409. PMID 10680982.
50. ^ De Paor, M; O'Brien, K; Fahey, T; Smith, SM (8 December 2016). "Antiviral agents for infectious mononucleosis (glandular fever)". The Cochrane Database of Systematic Reviews. 12: CD011487. doi:10.1002/14651858.CD011487.pub2. PMC 6463965. PMID 27933614.
51. ^ Rafailidis PI, Mavros MN, Kapaskelis A, Falagas ME (2010). "Antiviral treatment for severe EBV infections in apparently immunocompetent patients". J. Clin. Virol. 49 (3): 151–57. doi:10.1016/j.jcv.2010.07.008. PMID 20739216.
52. ^ "Glandular fever - NHS". National Health Service (NHS). 2010-09-09. Archived from the original on 2010-09-08. Retrieved 2010-09-09.
53. ^ Tyring, Stephen; Moore, Angela Yen; Lupi, Omar (2016). Mucocutaneous Manifestations of Viral Diseases: An Illustrated Guide to Diagnosis and Management (2 ed.). CRC Press. p. 125. ISBN 9781420073133. Archived from the original on 2017-09-11.
54. ^ a b American Medical Society for Sports Medicine (24 April 2014), "Five Things Physicians and Patients Should Question", Choosing Wisely: an initiative of the ABIM Foundation, American Medical Society for Sports Medicine, archived from the original on 29 July 2014, retrieved 29 July 2014, which cites
* Putukian, M; O'Connor, FG; Stricker, P; McGrew, C; Hosey, RG; Gordon, SM; Kinderknecht, J; Kriss, V; Landry, G (Jul 2008). "Mononucleosis and athletic participation: an evidence-based subject review". Clinical Journal of Sport Medicine. 18 (4): 309–15. doi:10.1097/JSM.0b013e31817e34f8. PMID 18614881. S2CID 23780443.
* Spielmann, AL; DeLong, DM; Kliewer, MA (Jan 2005). "Sonographic evaluation of spleen size in tall healthy athletes". AJR. American Journal of Roentgenology. 184 (1): 45–9. doi:10.2214/ajr.184.1.01840045. PMID 15615949.
55. ^ Jensen, Hal B (June 2000). "Acute complications of Epstein-Barr virus infectious mononucleosis". Current Opinion in Pediatrics. 12 (3): 263–268. doi:10.1097/00008480-200006000-00016. ISSN 1040-8703. PMID 10836164. S2CID 20566820.
56. ^ Aghenta A; Osowo, A; Thomas, J (May 2008). "Symptomatic atrial fibrillation with infectious mononucleosis". Canadian Family Physician. 54 (5): 695–696. PMC 2377232. PMID 18474702.
57. ^ Handel AE, Williamson AJ, Disanto G, Handunnetthi L, Giovannoni G, Ramagopalan SV (September 2010). "An updated meta-analysis of risk of multiple sclerosis following infectious mononucleosis". PLOS ONE. 5 (9): e12496. Bibcode:2010PLoSO...512496H. doi:10.1371/journal.pone.0012496. PMC 2931696. PMID 20824132.
58. ^ Pattle, SB; Farrell, PJ (November 2006). "The role of Epstein-Barr virus in cancer". Expert Opinion on Biological Therapy. 6 (11): 1193–205. doi:10.1517/14712598.6.11.1193. PMID 17049016. S2CID 36546018.
59. ^ Sitki-Green D, Covington M, Raab-Traub N (February 2003). "Compartmentalization and Transmission of Multiple Epstein-Barr Virus Strains in Asymptomatic Carriers". Journal of Virology. 77 (3): 1840–1847. doi:10.1128/JVI.77.3.1840-1847.2003. PMC 140987. PMID 12525618.
60. ^ Hadinoto V, Shapiro M, Greenough TC, Sullivan JL, Luzuriaga K, Thorley-Lawson DA (February 1, 2008). "On the dynamics of acute EBV infection and the pathogenesis of infectious mononucleosis". Blood. 111 (3): 1420–1427. doi:10.1182/blood-2007-06-093278. PMC 2214734. PMID 17991806.
61. ^ Altschuler, EL (1 September 1999). "Antiquity of Epstein-Barr virus, Sjögren's syndrome, and Hodgkin's disease--historical concordance and discordance". Journal of the National Cancer Institute. 91 (17): 1512–3. doi:10.1093/jnci/91.17.1512A. PMID 10469761. Retrieved 17 June 2013.
62. ^ a b Evans, AS (March 1974). "The history of infectious mononucleosis". The American Journal of the Medical Sciences. 267 (3): 189–95. doi:10.1097/00000441-197403000-00006. PMID 4363554.
63. ^ Н. Филатов: Лекции об острых инфекционных болезнях у детей [N. Filatov: Lektsii ob ostrikh infeksionnîkh boleznyakh u dietei]. 2 volumes. Moscow, A. Lang, 1887.
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65. ^ a b Elsevier, Dorland's Illustrated Medical Dictionary, Elsevier. Headword "mononucleosis".
66. ^ Sprunt TPV, Evans FA. Mononuclear leukocytosis in reaction to acute infection (infectious mononucleosis). Bulletin of the Johns Hopkins Hospital. Baltimore, 1920;31:410-417.
67. ^ "Historical Timeline | Yale School of Public Health". publichealth.yale.edu. Archived from the original on 2019-06-19. Retrieved 2019-01-04.
68. ^ Miller, George (December 21, 2006). "Book Review: Epstein–Barr Virus". New England Journal of Medicine. 355 (25): 2708–2709. doi:10.1056/NEJMbkrev39523.
69. ^ Henle G, Henle W, Diehl V (January 1968). "Relation of Burkitt's tumor-associated herpes-ytpe virus to infectious mononucleosis". Proc. Natl. Acad. Sci. U.S.A. 59 (1): 94–101. Bibcode:1968PNAS...59...94H. doi:10.1073/pnas.59.1.94. PMC 286007. PMID 5242134.
70. ^ Fountain, Henry (1996-01-25). "Alfred S. Evans, 78, Expert On Origins of Mononucleosis". The New York Times. ISSN 0362-4331. Retrieved 2019-01-04.
## External links[edit]
Classification
D
* ICD-10: B27
* ICD-9-CM: 075
* MeSH: D007244
* DiseasesDB: 4387
External resources
* MedlinePlus: 000591
* eMedicine: emerg/319 med/1499 ped/705
* Patient UK: Infectious mononucleosis
Wikimedia Commons has media related to Infectious mononucleosis.
* Infectious mononucleosis at Curlie
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* GND: 4161648-0
* NDL: 00561419
* NSK: 005458134
*[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
| Infectious mononucleosis | c0021345 | 29,231 | wikipedia | https://en.wikipedia.org/wiki/Infectious_mononucleosis | 2021-01-18T18:41:20 | {"mesh": ["D007244"], "umls": ["C0021345"], "icd-9": ["075075"], "icd-10": ["B27.027.0"], "wikidata": ["Q207367"]} |
Gaucher disease is an inherited disorder that affects many of the body's organs and tissues. The signs and symptoms of this condition vary widely among affected individuals. Researchers have described several types of Gaucher disease based on their characteristic features.
Type 1 Gaucher disease is the most common form of this condition. Type 1 is also called non-neuronopathic Gaucher disease because the brain and spinal cord (the central nervous system) are usually not affected. The features of this condition range from mild to severe and may appear anytime from childhood to adulthood. Major signs and symptoms include enlargement of the liver and spleen (hepatosplenomegaly), a low number of red blood cells (anemia), easy bruising caused by a decrease in blood platelets (thrombocytopenia), lung disease, and bone abnormalities such as bone pain, fractures, and arthritis.
Types 2 and 3 Gaucher disease are known as neuronopathic forms of the disorder because they are characterized by problems that affect the central nervous system. In addition to the signs and symptoms described above, these conditions can cause abnormal eye movements, seizures, and brain damage. Type 2 Gaucher disease usually causes life-threatening medical problems beginning in infancy. Type 3 Gaucher disease also affects the nervous system, but it tends to worsen more slowly than type 2.
The most severe type of Gaucher disease is called the perinatal lethal form. This condition causes severe or life-threatening complications starting before birth or in infancy. Features of the perinatal lethal form can include extensive swelling caused by fluid accumulation before birth (hydrops fetalis); dry, scaly skin (ichthyosis) or other skin abnormalities; hepatosplenomegaly; distinctive facial features; and serious neurological problems. As its name indicates, most infants with the perinatal lethal form of Gaucher disease survive for only a few days after birth.
Another form of Gaucher disease is known as the cardiovascular type because it primarily affects the heart, causing the heart valves to harden (calcify). People with the cardiovascular form of Gaucher disease may also have eye abnormalities, bone disease, and mild enlargement of the spleen (splenomegaly).
## Frequency
Gaucher disease occurs in 1 in 50,000 to 100,000 people in the general population. Type 1 is the most common form of the disorder; it occurs more frequently in people of Ashkenazi (eastern and central European) Jewish heritage than in those with other backgrounds. This form of the condition affects 1 in 500 to 1,000 people of Ashkenazi Jewish heritage. The other forms of Gaucher disease are uncommon and do not occur more frequently in people of Ashkenazi Jewish descent.
## Causes
Mutations in the GBA gene cause Gaucher disease. The GBA gene provides instructions for making an enzyme called beta-glucocerebrosidase. This enzyme breaks down a fatty substance called glucocerebroside into a sugar (glucose) and a simpler fat molecule (ceramide). Mutations in the GBA gene greatly reduce or eliminate the activity of beta-glucocerebrosidase. Without enough of this enzyme, glucocerebroside and related substances can build up to toxic levels within cells. Tissues and organs are damaged by the abnormal accumulation and storage of these substances, causing the characteristic features of Gaucher disease.
### Learn more about the gene associated with Gaucher disease
* GBA
## Inheritance Pattern
This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show 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
| Gaucher disease | c1961835 | 29,232 | medlineplus | https://medlineplus.gov/genetics/condition/gaucher-disease/ | 2021-01-27T08:25:44 | {"gard": ["8233", "2441"], "mesh": ["D005776"], "omim": ["230800", "230900", "231000", "231005"], "synonyms": []} |
An extremely rare, acquired, dermis elastic tissue disorder characterized by localized increased skin laxity associated with delayed skin recoil, typically ocurring on the elbows, knees and/or neck. Histologically, focal abundace of elastic tissue in the dermis with pleomorphic and fragmented elastic fibers, without calcification, is observed.
*[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
| Elastoderma | c0406555 | 29,233 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=228240 | 2021-01-23T18:51:27 | {"gard": ["12716"], "umls": ["C0406555"]} |
A number sign (#) is used with this entry because of evidence that metacarpal 4-5 fusion (MF4) is caused by mutation in the FGF16 gene (300827) on chromosome Xq21.
Clinical Features
Orel (1928) and Holmes et al. (1972) described fusion of the fourth and fifth metacarpals as an X-linked recessive trait. Other reports are more consistent with autosomal dominant inheritance (e.g., Habighorst and Albers, 1965). The families of Lerch (1948) and of Habighorst and Albers (1965) suggested autosomal dominant inheritance because of affected females and male-to-male transmission. Anneren and Amilon (1994) described this malformation in 5 males in 4 generations of a family. The carrier females were normal by clinical and radiologic examination.
Holmes et al. (1972) excluded linkage of the disorder in their family to the colorblindness locus on Xq28. An X-linked form of split-hand/foot malformation (SHFM2; 313350) has been mapped to Xq26. The possibility of allelism of X-linked ectrodactyly and X-linked metacarpal fusion should be investigated.
Lonardo et al. (2004) described a 4-generation family with isolated fusion of the fourth and fifth metacarpals. They noted that only males were affected and that there were no instances of male-to-male transmission, consistent with X-linked recessive transmission.
Jamsheer et al. (2013) described a 12-year-old Polish boy in whom ulnar deviation of both fifth fingers was noted at birth. He was also found to have right-sided inguinal hernia and hydrocele of testis. Radiography showed fusion of the fourth and fifth metacarpals and shortening of the fifth metacarpal bones. On examination at 12 years of age, he had normal stature, with bilateral shortening of the fifth rays of the hands as well as minimal syndactyly of toes 2-3. He had a triangular face, with upslanted palpebral fissures and a thin upper lip, but no additional dysmorphic features were noted. Intellectual development was normal, although he had attention deficit-hyperactivity disorder. He had 2 younger brothers who were clinically and radiologically normal. Jamsheer et al. (2013) also studied a German boy with isolated bilateral metacarpal 4-5 fusion with shortening of the fifth metacarpals.
Jones et al. (2014) reported 2 half brothers from a Caucasian British family who had metacarpal 4-5 fusion. The 23-year-old half brother had bilateral ulnar deviation of the fifth fingers at birth, which caused difficulty in writing and in fine motor movements; he underwent surgery to reduce the deviation of the left fifth finger. He also had bilateral high-arched feet, large first toes, swelling of the dorsum of both feet, sandal gap, and flexion deformity of the first metatarsophalangeal joints. His 6-year-old half brother had unilateral ulnar deviation of the right fifth finger at birth, and also had very large first toes.
Molecular Genetics
In a 12-year-old Polish boy with metacarpal 4-5 fusion who was negative for mutation in the NOG (602991), GDF5 (601146), and HOXD13 (142989) genes, Jamsheer et al. (2013) performed whole-exome sequencing and identified a nonsense mutation in the FGF16 gene (R179X; 300827.0001). The mutation was present in heterozygosity in his clinically and radiologically unaffected mother, but was not found in his unaffected brothers. Sequencing of the FGF16 gene in a German boy with typical metacarpal 4-5 fusion revealed another nonsense mutation (S157X; 300827.0002); his parents were unavailable for study.
In 2 half brothers with metacarpal 4-5 fusion, Jones et al. (2014) identified a 19-bp duplication in the FGF16 gene (300827.0003) that was also present in heterozygosity in their unaffected mother. The authors noted that the more extensive involvement of the feet in the older half brother suggested that modifier genes might be important in the phenotypic expression.
INHERITANCE \- X-linked recessive SKELETAL Hands \- Fusion of fourth and fifth metacarpals \- Shortening of the fifth metacarpal Feet \- Syndactyly of toes 2-3 (in some patients) MOLECULAR BASIS \- Caused by mutation in the fibroblast growth factor-16 gene (FGF16, 300827.0001 ) ▲ 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
| METACARPAL 4-5 FUSION | c1839728 | 29,234 | omim | https://www.omim.org/entry/309630 | 2019-09-22T16:17:51 | {"mesh": ["C564100"], "omim": ["309630"], "orphanet": ["2498"]} |
Gardner-Diamond syndrome (GDS) is a rare condition characterized by episodes of unexplained, painful bruising that mostly occurs on the arms, legs, and/or face. It is most common in Caucasian women who have mental illness or emotional stress. Symptoms typically include the formation of multiple, small, purple bruises that may be associated with burning, redness and swelling. Most affected people report that the bruising occurs either spontaneously, or some time after trauma or surgery at other sites of the body. The cause of GDS is poorly understood. Management typically involves psychiatric treatment.
*[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
| Gardner-Diamond syndrome | c0301928 | 29,235 | gard | https://rarediseases.info.nih.gov/diseases/6481/gardner-diamond-syndrome | 2021-01-18T18:00:22 | {"mesh": ["C535645"], "orphanet": ["324636"], "synonyms": ["Autoerythrocyte sensitization", "Psychogenic purpura", "Autoerythrocyte sensitization purpura", "Painful bruising syndrome", "Autoerythrocyte sensitization syndrome", "GDS"]} |
Wallis–Zieff–Goldblatt syndrome
Other namesCleidorhizomelic syndrome
Wallis–Zieff–Goldblatt syndrome has an autosomal dominant pattern of inheritance.
Wallis–Zieff–Goldblatt syndrome is a rare condition characterized by inherited skeletal disorders manifested mainly as rhizomelic short stature and lateral clavicular defects.[1] It is also known as Cleidorhizomelic syndrome.[2]
## Contents
* 1 Presentation
* 2 References
* 3 External links
## Presentation[edit]
An initial clinical report of this syndrome describes a 6-month-old boy with rhizomelic shortening, particularly in the arms, and protuberances over the lateral aspects of the clavicles. On radiographs the lateral third of the clavicles had a bifid appearance resulting from an abnormal process or protuberance arising from the fusion center. His 22-year-old mother also had a height of 142 cm with an arm span of 136 cm and rhizomelic shortness of the limbs, maximal in the arms, and abnormalities of the acromioclavicular joints. Both the mother and the son had marked bilateral clinodactyly of the fifth fingers associated with hypoplastic middle phalanx.[1]
## References[edit]
1. ^ a b Wallis C, Zieff S, Goldblatt J (1988). "Newly recognized autosomal dominant syndrome of rhizomelic shortness with clavicular defect". Am J Med Genet. 31 (4): 881–5. doi:10.1002/ajmg.1320310422. PMID 3239579.
2. ^ Online Mendelian Inheritance in Man (OMIM): Cleidorhizomelic syndrome - 119650
## External links[edit]
Classification
D
* ICD-10: Q77.8
* OMIM: 119650
* MeSH: C536428
External resources
* Orphanet: 1453
* v
* t
* e
Congenital malformations and deformations of musculoskeletal system / musculoskeletal abnormality
Appendicular
limb / dysmelia
Arms
clavicle / shoulder
* Cleidocranial dysostosis
* Sprengel's deformity
* Wallis–Zieff–Goldblatt syndrome
hand deformity
* Madelung's deformity
* Clinodactyly
* Oligodactyly
* Polydactyly
Leg
hip
* Hip dislocation / Hip dysplasia
* Upington disease
* Coxa valga
* Coxa vara
knee
* Genu valgum
* Genu varum
* Genu recurvatum
* Discoid meniscus
* Congenital patellar dislocation
* Congenital knee dislocation
foot deformity
* varus
* Club foot
* Pigeon toe
* valgus
* Flat feet
* Pes cavus
* Rocker bottom foot
* Hammer toe
Either / both
fingers and toes
* Polydactyly / Syndactyly
* Webbed toes
* Arachnodactyly
* Cenani–Lenz syndactylism
* Ectrodactyly
* Brachydactyly
* Stub thumb
reduction deficits / limb
* Acheiropodia
* Ectromelia
* Phocomelia
* Amelia
* Hemimelia
multiple joints
* Arthrogryposis
* Larsen syndrome
* RAPADILINO syndrome
Axial
Skull and face
Craniosynostosis
* Scaphocephaly
* Oxycephaly
* Trigonocephaly
Craniofacial dysostosis
* Crouzon syndrome
* Hypertelorism
* Hallermann–Streiff syndrome
* Treacher Collins syndrome
other
* Macrocephaly
* Platybasia
* Craniodiaphyseal dysplasia
* Dolichocephaly
* Greig cephalopolysyndactyly syndrome
* Plagiocephaly
* Saddle nose
Vertebral column
* Spinal curvature
* Scoliosis
* Klippel–Feil syndrome
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This article about a disease of musculoskeletal and connective tissue 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
| Wallis–Zieff–Goldblatt syndrome | c1861515 | 29,236 | wikipedia | https://en.wikipedia.org/wiki/Wallis%E2%80%93Zieff%E2%80%93Goldblatt_syndrome | 2021-01-18T19:08:22 | {"gard": ["5532"], "mesh": ["C536428"], "umls": ["C1861515"], "orphanet": ["1453"], "wikidata": ["Q7963156"]} |
Long bone bowing is a congenital condition described by the presence of symmetric or asymmetric angular deformity and shortening of the long bones, particularly the femurs, tibiae and ulnae.
## Epidemiology
Prevalence is unknown.
## Clinical description
It manifests at radiography as posteromedial bowing with cortical thickening along the concavity of the curvature and, in some cases, diaphyseal broadening. Phenotype analysis of patients with congenital bowing of long bones and otherwise undiagnosable conditions allowed sorting into three major groups: 1) normal bone texture, bowing confined to the femora, relatively thin long bones with no epiphyseal or metaphyseal abnormalities; common associated malformations or CNS abnormalities; 2) osteopenia, more generalized bowing, relatively thick long bones, metaphyseal ossification abnormalities; 3) normal bone texture, relatively thick bones, bowing of the upper and lower limbs, metaphyseal abnormalities. Long bone bowing can share characteristics of the following disorders: campomelic dysplasia, kyphomelic dysplasia, hypophosphatasia, osteogenesis imperfecta, Stuve-Wiedemann syndrome, and several very rare disorders.
## Differential diagnosis
Radiographic characteristics allow differential diagnosis.
## Antenatal diagnosis
Bowing of the long bones can be detected on antenatal ultrasound screening, but it is a nonspecific sign that can be associated with a variety of conditions, whose recognition is important for differentiating those that will resolve spontaneously from those that require surgery or other treatment.
*[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
| Congenital bowing of long bones | c1096546 | 29,237 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=2292 | 2021-01-23T17:09:27 | {"gard": ["953"], "omim": ["211355", "264050"], "umls": ["C1096546"], "icd-10": ["Q68.3", "Q68.4", "Q68.5", "Q68.8"]} |
A rare axonal hereditary motor and sensoy neuropathy disease characterized by progressive, peripheral, axonal sensorimotor neuropathy (of variable severity), affecting predominantly the distal lower limbs, associated with progressive, variably severe, optic atrophy, which frequently leads to visual loss. Patients typically present distal limb muscle weakness and atrophy, hypo/areflexia, foot deformities, poor visual acuity (often with a central scotoma), nystagmus, and reduced peripheral and nocturnal vision. Additional reported manifestations include sensorineural hearing loss, major joint contractures, anosmia, scoliosis/lumbar hyperlordosis, cognitive impairment and vocal cord paresis.
*[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
| Hereditary motor and sensory neuropathy type 6 | c0393807 | 29,238 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=90120 | 2021-01-23T18:07:18 | {"mesh": ["C562851"], "omim": ["601152", "616505"], "umls": ["C0393807"], "icd-10": ["G60.0"], "synonyms": ["CMT6", "Charcot-Marie-Tooth disease type 6", "HMSN 6", "HMSN VI", "Hereditary motor and sensory neuropathy type VI", "Peripheral neuropathy and optic atrophy"]} |
A number sign (#) is used with this entry because of evidence that Seckel syndrome-9 (SCKL9) is caused by homozygous mutation in the TRAIP gene (605958) on chromosome 3p21.
For a general phenotypic description and a discussion of genetic heterogeneity of Seckel syndrome, see SCKL1 (210600).
Clinical Features
Silengo et al. (2001) described 2 Italian sibs with a Seckel-like malformation syndrome characterized by intrauterine growth retardation (IUGR), microcephaly, beaked nose, failure to thrive, and early death. The first sib was a 46,XX girl who at birth underwent surgery for right diaphragmatic hernia. External genitalia appeared normal, with slight clitoral hypertrophy. Other features included micrognathia, low-set ears, hypertrichosis, and clubfeet. She died at age 40 days of respiratory distress. The second sib was a 46,XY infant born with ambiguous external genitalia with urogenital sinus, penile-like clitoris, and underdeveloped labial folds without palpable gonads. Renal sonogram showed bilateral multicystic kidneys, and echocardiography showed atrial and ventricular septal defects. Brain CT revealed microencephaly and pachygyria. The child died at 1 month of age due to respiratory distress. Autopsy showed severe hypoplasia of the pulmonary artery and its branches, large ASD and VSD, enlarged kidneys with multiple calyceal cysts, and pachygyria. Gonads and internal genitalia were not apparent in the pelvis, and serial histologic sections of pelvic soft tissues failed to reveal gonadal tissue or mullerian or wolffian remnants.
Harley et al. (2016) studied 3 unrelated patients with microcephaly, including a female sib of the Italian patients reported by Silengo et al. (2001) and an English and a Turkish boy. All 3 patients had IUGR and substantially reduced postnatal height, with disproportionate microcephaly. All had mild to moderate developmental delay and exhibited similar dysmorphic features, including a long narrow face, micrognathia, and prominent ears. Neuroimaging showed reduced cerebral cortical size and simplified gyri in 2 patients, whereas the third had a slightly enlarged ventricular system. The English boy and the Italian girl had recurrent lower respiratory tract infections, and the girl died of respiratory failure at 10 years of age due to chronic lung disease. The Turkish boy had recurrent urinary tract infections. There was no evidence of immunodeficiency in any of the patients.
Molecular Genetics
In an Italian girl with global growth failure and disproportionate microcephaly from a family originally reported by Silengo et al. (2001), Harley et al. (2016) performed whole-exome sequencing and identified homozygosity for a nonsense mutation in the TRAIP gene (R185X; 605958.0001). Her unaffected parents were heterozygous for the mutation, which was not found in 380 control chromosomes or public variant databases. Sequencing of the TRAIP gene in 262 patients diagnosed with primary microcephaly and primordial dwarfism identified a boy of English ancestry with the same R185X mutation. SNP genotyping was consistent with unrecognized parental relatedness within each family, and haplotype analysis indicated a distant link with shared ancestry between the 2 families many generations earlier, despite their geographic separation. Additional whole-exome sequencing in 28 patients with a presumptive diagnosis of Seckel syndrome identified a Turkish boy who was homozygous for a missense mutation (R18C; 605958.0002) in the TRAIP gene.
INHERITANCE \- Autosomal recessive GROWTH Height \- Short stature Weight \- Low birth weight Other \- Intrauterine growth retardation HEAD & NECK Head \- Microcephaly \- Scaphocephaly (in some patients) Face \- Long narrow face \- Micrognathia Ears \- Prominent ears Nose \- Beaked nose CARDIOVASCULAR Heart \- Atrial septal defect \- Ventricular septal defect Vascular \- Pulmonary artery hypoplasia, severe (in some patients) RESPIRATORY Lung \- Recurrent severe infections \- Asthma (rare) CHEST Diaphragm \- Diaphragmatic hernia GENITOURINARY External Genitalia (Male) \- Ambiguous genitalia \- Urogenital sinus External Genitalia (Female) \- Clitoral hypertrophy \- Underdeveloped labial folds Internal Genitalia (Male) \- Agonadism Kidneys \- Enlarged kidneys \- Multiple calyceal cysts \- Recurrent urinary tract infections SKELETAL Skull \- Microcephaly \- Scaphocephaly (in some patients) Feet \- Club feet SKIN, NAILS, & HAIR Hair \- Hypertrichosis NEUROLOGIC Central Nervous System \- Developmental delay, mild to moderate \- Reduced cerebral cortex \- Simplified gyri \- Enlarged ventricular system PRENATAL MANIFESTATIONS Movement \- Decreased fetal movements Amniotic Fluid \- Polyhydramnios MISCELLANEOUS \- Patients may die in infancy or childhood due to respiratory failure MOLECULAR BASIS \- Caused by mutation in the TRAF-interacting protein gene (TRAIP, 605958.0001 ) ▲ 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
| SECKEL SYNDROME 9 | c0265202 | 29,239 | omim | https://www.omim.org/entry/616777 | 2019-09-22T15:48:02 | {"doid": ["0070005"], "omim": ["616777"], "orphanet": ["808"]} |
A number sign (#) is used with this entry because Fraser syndrome-1 (FRASRS1) is caused by homozygous or compound heterozygous mutation in the FRAS1 gene (607830) on chromosome 4q21.
Description
Fraser syndrome is an autosomal recessive malformation disorder characterized by cryptophthalmos, syndactyly, and abnormalities of the respiratory and urogenital tract (summary by van Haelst et al., 2008).
### Genetic Heterogeneity of Fraser Syndrome
Fraser syndrome-2 (FRASRS2) is caused by mutation in the FREM2 gene (608945) on chromosome 13q13, and Fraser syndrome-3 (FRASRS3) is caused by mutation in the GRIP1 gene (604597) on chromosome 12q14.
See Bowen syndrome (211200) for a comparable but probably distinct syndrome of multiple congenital malformations.
Clinical Features
In each of 2 sibships, Fraser (1962) observed 2 sisters affected at birth by various combinations: cryptophthalmos; absent or malformed lacrimal ducts; middle and outer ear malformations; high palate; cleavage along the midplane of nares and tongue; hypertelorism; laryngeal stenosis; syndactyly; wide separation of symphysis pubis; displacement of umbilicus and nipples; primitive mesentery of small bowel; maldeveloped kidneys; fusion of labia and enlargement of clitoris; and bicornuate uterus and malformed fallopian tubes. In each sibship, 1 sister was stillborn and the other viable. Sex chromatin was positive in both surviving infants. Neither set of parents was consanguineous.
Gupta and Saxena (1962) reported cryptophthalmos in 2 offspring of consanguineous parents. In 1 case it was unilateral and death occurred at 1 month. In the other the cryptophthalmos was bilateral and was accompanied by congenital deafness, undescended testes, small penis with hypospadias, and other deformities. The older literature on cryptophthalmos with associated malformations was reviewed by Duke-Elder (1963).
Francois (1969) described affected brother and sister and gave a comprehensive review, pointing out the rather frequent examples of parental consanguinity (about 15% of cases) and of familial cases. Syndactyly is a feature of many of the cases. Francannet et al. (1990) reported instances of parental consanguinity: in 1 family, 3 children were born of a first-cousin marriage, and in a second, an affected fetus resulted from a double first-cousin marriage. An isolated case was reported by Ide and Wollschlaeger (1969). The parents were not related. The patient had syndactyly, hair extending forward over the temples, deformity of the nares and external auditory meatus, etc. Azevedo et al. (1973) reported 4 cases in 2 sibships, each with consanguineous parents. Syndactyly and other malformations were present in some.
Lurie and Cherstvoy (1984) reported 4 families with the cryptophthalmos-syndactyly syndrome. Perinatal death occurred in 9 affected members. Autopsy, performed in 6 cases, showed renal agenesis (bilateral in 3, unilateral in 3). One family had at least 4 affected sibs and 2 others had 2 affected children each. No consanguinity was established.
Burn and Marwood (1982) reported 3 sibs with Fraser syndrome presenting as bilateral renal agenesis. Only 1 of the 3 sibs had cryptophthalmos (which was unilateral). Because cryptophthalmos is not an essential part of the syndrome, Fraser syndrome is a preferable designation.
Mortimer et al. (1985) reported monozygotic twins concordant for bilateral renal agenesis and other features consistent with Fraser syndrome: syndactyly and laryngeal stenosis.
From their personal experience and a review of the literature, Koenig and Spranger (1986) identified 5 cases of the cryptophthalmos-syndactyly syndrome without cryptophthalmos. Thomas et al. (1986) also emphasized the occurrence of the cryptophthalmos syndrome without cryptophthalmos--an argument for using the eponym Fraser syndrome. In a literature review, they found 124 cases of cryptophthalmos of which 27 were isolated and 97 associated with multiple malformations. They found that isolated cryptophthalmos was sporadic in 16 cases and familial in 11. The familial cases were in 3 families with vertical transmission (123570). Some of the most characteristic malformations of the Fraser syndrome occur in areas that remain temporarily fused in utero: the eyelids, the digits, and the vagina. Since separation of the eyelids and digits involves a process of controlled necrosis, Thomas et al. (1986) speculated about a defect in programmed cell death. They also drew attention to the parallel with experimental teratogenesis by means of hypovitaminosis A in the pig and rat. Malformations reminiscent of the Fraser syndrome are produced. Thomas et al. (1986) asked whether defects in the metabolism of retinoids may play a role in pathogenesis. Meinecke (1986) also contributed to the understanding of the Fraser syndrome without cryptophthalmos.
Greenberg et al. (1986) described associated gonadal dysgenesis in an infant girl with Fraser syndrome: gonadoblastoma developed in a dysgenetic ovary.
Gattuso et al. (1987) gave a quantitative estimate of the frequency of the several clinical manifestations of Fraser syndrome on the basis of 3 new cases and 68 published cases. Craniofacial abnormalities were reported in all, cryptophthalmos in 93%, and syndactyly in 54%.
Bialer and Wilson (1988) reported a child who according to the strict criteria proposed by Thomas et al. (1986) might not be considered to have syndromal cryptophthalmos; however, the child had several malformations considered minor in that classification and was born of parents who were related in a complex way, giving the proband a coefficient of consanguinity of 0.086.
Boyd et al. (1988) presented postmortem findings in 11 cases of probable Fraser syndrome; 8 were neonatal deaths, 1 was a stillbirth, and 2 were midtrimester fetuses. Ramsing et al. (1990) presented the clinical and autopsy findings in 2 fetuses and 1 newborn infant with Fraser syndrome.
Stevens et al. (1994) observed pulmonary hyperplasia and laryngeal stenosis in 2 sibs with Fraser cryptophthalmos syndrome. Markedly enlarged echogenic lungs were demonstrable at 16 and 17 weeks of gestation. A third unrelated patient with Fraser syndrome had laryngeal stenosis, renal agenesis, and normal lung development. Reports of 3 additional cases of pulmonary hyperplasia in the Fraser syndrome were found. In all of these cases the likely mechanism for pulmonary hyperplasia was retention of fetal lung fluid by laryngeal or tracheal obstruction.
Pankau et al. (1994) described a newborn female with total syndactyly of the 3rd and 4th fingers, partial syndactyly of all other fingers, postaxial polydactyly of feet, bilateral renal agenesis, and bilateral anophthalmia. The child was born of consanguineous Turkish parents. Although the infant had normal eyelids with palpebrae and eyelashes and had histologically confirmed anophthalmia and postaxial polydactyly, Pankau et al. (1994) considered this case to be an unusual manifestation of Fraser syndrome.
Amr (1996) described unilateral cryptophthalmos with bilateral renal agenesis and syndactyly of hands and feet in a stillborn female fetus.
Andiran et al. (1999) reported a case of Fraser syndrome with anterior urethral atresia. They suggested that newborns with Fraser syndrome, especially those with umbilical discharge or severe hydroureteronephrosis, be evaluated for patency of the anterior urethra.
Slavotinek and Tifft (2002) reviewed 117 cases diagnosed as Fraser syndrome or cryptophthalmos published after the comprehensive review of Thomas et al. (1986). Their findings emphasized the clinical variability associated with Fraser syndrome and supported heterogeneity of the disorder. They also noted patterns of anomalies (for example, bicornuate uterus with imperforate anus or anal stenosis and renal malformations) that are found in other syndromes and associations without cryptophthalmos, suggesting that common modifier genes may explain some of the phenotypic variation in Fraser syndrome.
Van Haelst et al. (2007) studied the clinical features of 59 newly diagnosed individuals with Fraser syndrome from 40 families, including 25 consanguineous families. Compared to previous reviews, they found a higher frequency of abnormalities of the skull, larynx, umbilicus, urinary tract, and anus, and a lower frequency of mental retardation and cleft lip with or without cleft palate. Clinical features in probands and sibs were remarkably similar. Prenatally diagnosed patients had more manifestations giving rise to a pathologic amount of amniotic fluid, but otherwise had similar frequency of symptoms to those diagnosed postnatally.
Diagnosis
Koenig and Spranger (1986) noted that eye lesions are apparently nonobligatory components of the syndrome. The diagnosis of Fraser syndrome should be entertained in patients with a combination of acrofacial and urogenital malformations with or without cryptophthalmos. Thomas et al. (1986) also emphasized the occurrence of the cryptophthalmos syndrome without cryptophthalmos and proposed a diagnostic criteria for Fraser syndrome. Major criteria consisted of cryptophthalmos, syndactyly, abnormal genitalia, and positive family history. Minor criteria were congenital malformation of the nose, ears, or larynx, cleft lip and/or palate, skeletal defects, umbilical hernia, renal agenesis, and mental retardation. Diagnosis was based on the presence of at least 2 major and 1 minor criteria, or 1 major and 4 minor criteria.
Boyd et al. (1988) suggested that prenatal diagnosis by ultrasound examination of eyes, digits, and kidneys should detect the severe form of the syndrome. Serville et al. (1989) demonstrated the feasibility of ultrasonographic diagnosis of the Fraser syndrome at 18 weeks' gestation. They suggested that the diagnosis could be made if 2 of the following signs are present: obstructive uropathy, microphthalmia, syndactyly, and oligohydramnios. Schauer et al. (1990) made the diagnosis at 18.5 weeks' gestation on the basis of sonography. Both the female fetus and the phenotypically normal father had a chromosome anomaly: inv(9)(p11q21). An earlier born infant had Fraser syndrome and the same chromosome 9 inversion.
Van Haelst et al. (2007) provided a revision of the diagnostic criteria for Fraser syndrome according to Thomas et al. (1986) through the addition of airway tract and urinary tract anomalies to the major criteria and removal of mental retardation and clefting as criteria. Major criteria included syndactyly, cryptophthalmos spectrum, urinary tract abnormalities, ambiguous genitalia, laryngeal and tracheal anomalies, and positive family history. Minor criteria included anorectal defects, dysplastic ears, skull ossification defects, umbilical abnormalities, and nasal anomalies. Cleft lip and/or palate, cardiac malformations, musculoskeletal anomalies, and mental retardation were considered uncommon. Van Haelst et al. (2007) suggested that the diagnosis of Fraser syndrome can be made if either 3 major criteria, or 2 major and 2 minor criteria, or 1 major and 3 minor criteria are present in a patient.
Mapping
By autozygosity mapping, McGregor et al. (2003) located the Fraser syndrome-1 locus to chromosome 4q21.
Molecular Genetics
In 5 families with Fraser syndrome, McGregor et al. (2003) identified 5 homozygous mutations in the FRAS1 gene (e.g., 607830.0001), which encodes a putative extracellular matrix (ECM) protein.
In a female infant with Fraser syndrome, Slavotinek et al. (2006) identified compound heterozygosity for a deletion (607830.0006) and an insertion (607830.0007) in the FRAS1 gene, inherited from her mother and her father, respectively.
Cavalcanti et al. (2007) described 2 stillborn Brazilian male sibs, born at 25 and 29 weeks' gestation, respectively. One sib appeared to have a lethal form of ablepharon-macrostomia syndrome (AMS; 200110) or an intermediate phenotype between AMS and Fraser syndrome, and the other had classic Fraser syndrome. Analysis of the FRAS1 gene revealed homozygosity for a splice site mutation (607830.0008), resulting in a severely truncated protein in both sibs and heterozygosity for the mutation in both parents. Cavalcanti et al. (2007) concluded that a phenotype resembling AMS is a rare clinical expression of Fraser syndrome, with no obvious genotype/phenotype correlation.
Animal Model
Winter (1990) speculated that Fraser syndrome is a human equivalent of the 'blebbed' phenotype in the mouse, which has been associated with mutations in at least 5 loci, including bl (Darling and Gossler, 1994). McGregor et al. (2003) screened DNA from bl/bl mice and identified a mutation in the Fras1 gene that resulted in premature protein termination. Thus, the bl mouse is a model for Fraser syndrome in humans.
Vrontou et al. (2003) showed that bl/bl homozygous embryos were devoid of Fras1 protein, consistent with the finding that Fras1 is mutated in these mice. The data suggested that perturbations in the composition of extracellular space underlying epithelia can account for the onset of the blebbed phenotype in mice and Fraser syndrome in humans.
Takamiya et al. (2004) presented data indicating that glutamate receptor-interacting protein-1 (GRIP1; 604597) is required for normal cell-matrix interactions during early embryonic development and that inactivation of Grip1 causes Fraser syndrome-like defects in mice. Kiyozumi et al. (2006) showed that Grip1-mutant 'eye blebs' (eb) mice had reduced localization of Fras1, Frem1 (608944), and Frem2 to epidermal basement membranes.
To investigate the cause of Fraser syndrome not linked to FRAS1, Jadeja et al. (2005) carried out linkage analysis in the mouse 'myelencephalic blebs' (my) strain, which shows a phenotype similar to that of Fras1-mutant mice. The authors mapped the my phenotype to the Frem2 gene and showed that a Frem2 gene trap mutation was allelic to my.
Kiyozumi et al. (2006) found that my/my mice had reduced localization of Frem2, as well as Fras1 and Frem1, to epidermal basement membranes. Frem1-knockout mice had reduced expression of Fras1 and Frem2 at the basement membrane. When coexpressed and secreted by transfected cells, these proteins formed a ternary complex, raising the possibility that their reciprocal stabilization at the basement membrane was due to complex formation. Kiyozumi et al. (2006) suggested that coordinated assembly of the 3 Fraser syndrome-associated proteins at the basement membrane is instrumental in epidermal-dermal interactions during morphogenetic processes.
History
Gattuso et al. (1987) quoted Warkany (1971) as citing the description by Pliny the Elder in the first century A.D. of a family with 3 children born with a membrane over the eye.
Elcioglu and Berry (2000) described Fraser syndrome in a museum specimen at Guy's Hospital. The specimen had been acquired about 10 years before the description of the entity by Fraser (1962).
On the occasion of the retirement of George Fraser, Reardon (1997) provided a biographical and historical note on Fraser's contributions to clinical genetics.
INHERITANCE \- Autosomal recessive HEAD & NECK Face \- Unusual hairline with hair growth on temples extending to lateral eyebrow Ears \- Middle ear malformations \- External ear malformations \- Conductive hearing loss Eyes \- Cryptophthalmos \- Absent or malformed lacrimal ducts \- Hypertelorism \- Blindness Nose \- Hypoplastic, notched nares \- Broad, low nasal bridge \- Midline nasal cleavage Mouth \- Cleft lip \- Cleft palate Teeth \- Teeth crowding RESPIRATORY Larynx \- Laryngeal stenosis \- Laryngeal atresia CHEST Breasts \- Widely spaced nipples ABDOMEN External Features \- Umbilical anomaly GENITOURINARY External Genitalia (Male) \- Small penis External Genitalia (Female) \- Clitoral enlargement Internal Genitalia (Male) \- Hypospadias \- Cryptorchidism Internal Genitalia (Female) \- Vaginal atresia \- Bicornuate uterus Kidneys \- Renal agenesis/hypoplasia SKELETAL Pelvis \- Diastasis of symphysis pubis Limbs \- Syndactyly SKIN, NAILS, & HAIR Hair \- Unusual hairline NEUROLOGIC Central Nervous System \- Mental retardation \- Microcephaly \- Meningomyelocele \- Encephalocele MISCELLANEOUS \- Twenty-five percent of affected babies are stillborn \- 20% die before age one (usually secondary to renal or laryngeal defects) MOLECULAR BASIS \- Caused by mutation in the FRAS1 gene (FRAS1, 607830.0001 ) \- Caused by mutation in the FRAS1-related extracellular matrix protein 2 gene (FREM2, 608945.0001 ) ▲ 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
| FRASER SYNDROME 1 | c0265233 | 29,240 | omim | https://www.omim.org/entry/219000 | 2019-09-22T16:29:13 | {"mesh": ["D058497"], "omim": ["219000"], "orphanet": ["2052"], "synonyms": ["Alternative titles", "FRASER SYNDROME", "CRYPTOPHTHALMOS WITH OTHER MALFORMATIONS", "CRYPTOPHTHALMOS-SYNDACTYLY SYNDROME"]} |
Liposarcoma
Micrograph of myxoid liposarcoma, H&E stain
SpecialtyDermatology, general surgery oncology
SymptomsA growing lump of tissue under your skin
Pain Swelling
Weakness of the affected limb
CausesIt's not clear what causes liposarcoma.
Doctors know that liposarcoma forms when a fat cell develops errors (mutations) in its genetic code. The mutations tell the cell to multiply rapidly and to go on living when other cells would die. The accumulating abnormal cells form a mass (tumor).
Several types of liposarcoma exist. Some grow slowly and the cells stay in one area of the body. Other types grow very quickly and may spread to other areas of the body.
Liposarcoma is a cancer that arises in fat cells in soft tissue, such as that inside the thigh or in the retroperitoneum.[1] It is a rare type of cancer that bears a resemblance to fat cells when examined under a microscope.[2] It is typically a large, bulky tumor, and tends to have multiple smaller satellites that extend beyond the main confines of the tumor. Liposarcomas, like all sarcomas, are rare.[3]
## Contents
* 1 Signs and symptoms
* 2 Diagnosis
* 2.1 Medical imaging
* 2.2 Subtypes
* 3 Treatment
* 4 Prognosis
* 5 Epidemiology
* 6 Society and culture
* 6.1 Notable cases
* 7 See also
* 8 References
* 9 External links
## Signs and symptoms[edit]
Left leg swelling caused by underlying liposarcoma
Patients usually note a deep-seated mass in their soft tissue. Only when the tumor is very large do symptoms of pain or functional disturbances occur. Retroperitoneal tumors may present themselves with signs of weight loss and emaciation and abdominal pain. These tumor may also compress the kidney or ureter, leading to kidney failure.[citation needed]
## Diagnosis[edit]
CT image showing a lesion that proved to be a liposarcoma
The diagnosis is established by histologic examination of the tissue, i.e., biopsy or excision. Lipoblasts are often present; these are cells with an abundant clear multivacuolated cytoplasm and an eccentric darkly staining nucleus that is indented by the vacuoles.[citation needed]
### Medical imaging[edit]
Ultrasonography may not be able to distinguish a liposarcoma from a benign lipoma, and therefore, MRI is the initial imaging of choice.[4]
* Medical ultrasonography of a liposarcoma: In this case a heterogeneous mass consisting of an upper hyperechoic portion, corresponding to lipomatous matrix, and areas of hypoechogenicity corresponding to nonlipomatous components.[5]
* Ultrasonography of a liposarcoma mimicking a lipoma. A homogeneous hypoechoic mass presenting with the same appearance of lipoma. It was clinically distinguished as having rapid growth.[5]
* MRI of myxoid liposarcoma of high grade, in left axillary region of 40 year old man. Highlighted by the white color. Horizontal section.
### Subtypes[edit]
Several subtypes of liposarcoma exist:
* Well-differentiated liposarcoma, synonymous with atypical lipomatous tumor—the former term is used almost exclusively for lesions in the retroperitoneum, while the latter is used for lesions arising elsewhere
* Dedifferentiated liposarcoma—well-differentiated (high-grade) liposarcoma adjacent to a more poorly differentiated tumor
* Myxoid/round cell liposarcoma
* Pleomorphic liposarcoma
* Micrograph of a myxoid liposarcoma, H&E stain
* Micrograph of a dedifferentiated liposarcoma, H&E stain
## Treatment[edit]
Treatment of liposarcoma most often consists of surgical removal of the tumor and margin, occasionally radiation, and possibly chemotherapy, as well.[6]
## Prognosis[edit]
The prognosis varies depending on the site of origin, the type of cancer cell, tumor size, depth, and proximity to lymph nodes.
Five-year survival rates vary from 56 to 100% based on histological subtype.[7]
## Epidemiology[edit]
Most frequent in middle-aged and older adults (age 40 and above), liposarcomas are the second-most common of all soft-tissue sarcomas, following malignant fibrous histiocytomas. Annually, 2.5 cases occur per million population.[citation needed]
## Society and culture[edit]
### Notable cases[edit]
* Chad Brown (1961–2014), a poker player, died from liposarcoma
* Richard Feynman (1918–1988), a theoretical physicist, died following surgery to address the disease.
* Rob Ford (1969–2016), former Toronto mayor and Toronto city councillor, died of pleomorphic liposarcoma.
* Hokie Gajan (1959–2016), former running back for the New Orleans Saints and radio color commentator for the team, died from liposarcoma
* Charlie Davies (1986-), former soccer player for the Philadelphia Union of Major League Soccer
* Mark Strand (1934-2014), former US Poet Laureate and Pulitzer Prize-winner, died from liposarcoma
## See also[edit]
* Lipoma
* The Wendy Walk, not-for-profit organization whose mission is to raise funds and awareness for liposarcoma
## References[edit]
1. ^ Dei Tos AP (August 2000). "Liposarcoma: new entities and evolving concepts". Ann Diagn Pathol. 4 (4): 252–66. doi:10.1053/adpa.2000.8133. PMID 10982304.
2. ^ Bell, Teresa (October 2012). "What is Liposarcoma?". The Liddy Shriver Sarcoma Initiative. Retrieved 2015-04-22.
3. ^ Goldstein-Rice, E (2008). "The Importance of Treatment at a Specialty Center for Sarcomas". ESUN.
4. ^ Rohit Sharma; Frank Gaillard; et al. "Lipoma". Radiopaedia. Retrieved 2018-09-27.
5. ^ a b Content originally copied from: Mak, Chee-Wai; Tzeng, Wen-Sheng (2012). Sonography. doi:10.5772/27586. ISBN 978-953-307-947-9. from Kerry Thoirs (2012-02-03). "Sonography". doi:10.5772/27586. Cite journal requires `|journal=` (help) ISBN 978-953-307-947-9, Published: February 3, 2012, under the CC-BY-3.0 license.
6. ^ "Liposarcoma". Sarcoma UK. 2015-08-13. Retrieved September 20, 2018.
7. ^ Gebhardt, M; Buecker, PJ (2004). "Liposarcoma". ESUN.
## External links[edit]
Classification
D
* ICD-O: M8850/3
* MeSH: D008080
* DiseasesDB: 31482
External resources
* eMedicine: derm/856
* v
* t
* e
Connective/soft tissue tumors and sarcomas
Not otherwise specified
* Soft-tissue sarcoma
* Desmoplastic small-round-cell tumor
Connective tissue neoplasm
Fibromatous
Fibroma/fibrosarcoma:
* Dermatofibrosarcoma protuberans
* Desmoplastic fibroma
Fibroma/fibromatosis:
* Aggressive infantile fibromatosis
* Aponeurotic fibroma
* Collagenous fibroma
* Diffuse infantile fibromatosis
* Familial myxovascular fibromas
* Fibroma of tendon sheath
* Fibromatosis colli
* Infantile digital fibromatosis
* Juvenile hyaline fibromatosis
* Plantar fibromatosis
* Pleomorphic fibroma
* Oral submucous fibrosis
Histiocytoma/histiocytic sarcoma:
* Benign fibrous histiocytoma
* Malignant fibrous histiocytoma
* Atypical fibroxanthoma
* Solitary fibrous tumor
Myxomatous
* Myxoma/myxosarcoma
* Cutaneous myxoma
* Superficial acral fibromyxoma
* Angiomyxoma
* Ossifying fibromyxoid tumour
Fibroepithelial
* Brenner tumour
* Fibroadenoma
* Phyllodes tumor
Synovial-like
* Synovial sarcoma
* Clear-cell sarcoma
Lipomatous
* Lipoma/liposarcoma
* Myelolipoma
* Myxoid liposarcoma
* PEComa
* Angiomyolipoma
* Chondroid lipoma
* Intradermal spindle cell lipoma
* Pleomorphic lipoma
* Lipoblastomatosis
* Spindle cell lipoma
* Hibernoma
Myomatous
general:
* Myoma/myosarcoma
smooth muscle:
* Leiomyoma/leiomyosarcoma
skeletal muscle:
* Rhabdomyoma/rhabdomyosarcoma: Embryonal rhabdomyosarcoma
* Sarcoma botryoides
* Alveolar rhabdomyosarcoma
* Leiomyoma
* Angioleiomyoma
* Angiolipoleiomyoma
* Genital leiomyoma
* Leiomyosarcoma
* Multiple cutaneous and uterine leiomyomatosis syndrome
* Multiple cutaneous leiomyoma
* Neural fibrolipoma
* Solitary cutaneous leiomyoma
* STUMP
Complex mixed and stromal
* Adenomyoma
* Pleomorphic adenoma
* Mixed Müllerian tumor
* Mesoblastic nephroma
* Wilms' tumor
* Malignant rhabdoid tumour
* Clear-cell sarcoma of the kidney
* Hepatoblastoma
* Pancreatoblastoma
* Carcinosarcoma
Mesothelial
* Mesothelioma
* Adenomatoid tumor
*[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
| Liposarcoma | c0023827 | 29,241 | wikipedia | https://en.wikipedia.org/wiki/Liposarcoma | 2021-01-18T19:03:01 | {"gard": ["6913"], "mesh": ["D008080"], "umls": ["C0023827"], "orphanet": ["69078"], "wikidata": ["Q1827425"]} |
For a phenotypic description and a discussion of genetic heterogeneity of psoriasis, see PSORS1 (177900).
Mapping
In 32 German extended families, comprising 162 affected and 195 unaffected individuals, Lee et al. (2000) performed a genomewide scan with microsatellite markers and, by nonparametric linkage analysis, found strong evidence for a novel psoriasis susceptibility locus on 19p13. Parametric analysis revealed a heterogeneity lod score of 4.06, corresponding to a genomewide significance level of 0.037, under the assumption of a recessive model with high disease-allele frequency and 66% as the proportion of linked families. The study also confirmed linkage of psoriasis to the HLA area on 6p and suggested additional regions on 8q and 21q for further investigations.
In a linkage disequilibrium (LD) study in an independent family-based cohort, Huffmeier et al. (2009) found evidence for association with a newly discovered microsatellite at 19p13 (D19SPS21; p less than 5.3 x 10(-5)). An LD-based association scan in 300 trios revealed association to several single SNPs in 1 LD block. When Huffmeier et al. (2009) stratified this cohort for carrying a PSORS1 risk allele at the HLA-C locus (Cw0602) on 6p21, evidence for association became much stronger at single SNP and haplotype levels (p values between 1.0 x 10(-4) and 8.0 x 10(-4)). In a replication study of 1,114 patients and 937 control individuals, evidence for association was also observed after stratification to the PSORS1 risk allele. In both study groups, logistic regression showed evidence for interaction between the risk alleles PSORS1 and PSORS6. Best p values for rs12459358 in both groups remained significant after correction for multiple testing. Huffmeier et al. (2009) concluded that their data identified a susceptibility factor at PSORS6 that is relevant in patients with early-onset psoriasis vulgaris carrying the PSORS1 risk allele.
Molecular Genetics
Wu et al. (2011) noted that the BSG gene (109480) maps within the PSORS6 locus on chromosome 19p13. They genotyped a T-to-A SNP, rs8259, in the 3-prime UTR of the BSG gene in 668 psoriasis patients and 1,143 healthy controls from a central south Chinese population. The T allele was associated with significantly decreased susceptibility to psoriasis (odds ratio = 0.758; p = 0.002). Wu et al. (2011) found that the T allele of rs8259 created a functional binding site for microRNA-492 (MIR492; 614384), leading to reduced translation of the BSG transcript. In contrast, the A allele abolished the MIR492-binding site and was associated with increased expression of BSG variant-2 in peripheral blood mononuclear cells.
Animal Model
Zenz et al. (2005) reported that in psoriatic lesions, epidermal keratinocytes have decreased expression of JunB (165161), a gene localized in the psoriasis susceptibility region PSORS6. They designed inducible, conditional, single- and double-knockout mice for JunB and c-Jun (165160). Mutant mice and littermate controls were treated with tamoxifen at 8 weeks of age. Single-mutant mice did not show any skin phenotype up to 2 months after deletion. However in JunB/c-Jun double-mutant mice, alterations to the hairless skin appeared 8 to 10 days after tamoxifen induction. After 18 days of tamoxifen treatment, 100% of the double-mutant mice showed a strong phenotype with scaly plaques affecting primarily ears, paws, and tail, and less frequently the hairy back skin. Histology of affected skin from mutant mice showed the hallmarks of psoriasis, such as a strongly thickened epidermis with prominent rete ridges, thickened keratinized upper layers (hyperkeratosis) and parakeratosis (nucleated keratinocytes in the cornified layer) and increased subepidermal vascularization. Arthritic lesions strongly reminiscent of psoriatic arthritis were observed with 100% penetrance. In contrast to the skin phenotype, the development of arthritic lesions required T and B cells and signaling through tumor necrosis factor receptor-1 (TNFR1; 191190). Prior to the disease onset, 2 chemotactic proteins (S100A8, 123885 and S100A9, 123886), which map to the psoriasis susceptibility region PSORS4 (603935), were strongly induced in mutant keratinocytes in vivo and in vitro. Zenz et al. (2005) proposed that the abrogation of JunB/activator protein-1 (AP1) in keratinocytes triggers chemokine/cytokine expression, which recruits neutrophils and macrophages to the epidermis, thereby contributing to the phenotypic changes observed in psoriasis. Thus, their data support the hypothesis that epidermal alterations are sufficient to initiate both skin lesions and arthritis in psoriasis.
*[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
| PSORIASIS 6, SUSCEPTIBILITY TO | c1854366 | 29,242 | omim | https://www.omim.org/entry/605364 | 2019-09-22T16:11:24 | {"omim": ["605364"]} |
Warsaw breakage syndrome
Other namesWABS[1]
Warsaw breakage syndrome is a rare genetic condition. Fewer than 10 cases have been reported by 2018.[2]Its clinical manifestations affect several organ systems.
## Contents
* 1 Presentation
* 2 Genetics
* 3 Diagnosis
* 3.1 Differential diagnosis
* 4 Treatment
* 5 History
* 6 References
## Presentation[edit]
These include[3]
* Severe pre- and postnatal growth retardation
* Microcephaly
* Intellectual disability
* Dysmorphic features
* Small and elongated face
* Narrow bifrontal diameter
* Prominent cheeks
* Small nares
* Flat philtrum
* Relatively large mouth
* Bilateral epicanthal folds
* High arched palate
* Microretrognathism
* Coloboma of the optic disc
* Strabismus
* Cup-shaped ears
* Sensorineural deafness
* Short neck
* Jugular hypoplasia
* Cardiac features
* Ventricular septal defect
* Tetralogy of Fallot
* Sketelal features
* Clinodactyly of the fifth fingers
* Syndactyly of the second and third toes
* Small thumbs
* Small fibulae
* Others
* Abnormal skin pigmentation
* Single palmar crease
## Genetics[edit]
This condition is caused by mutations in the DDX11 gene which is located on the short arm of chromosome 12 (12p11).[citation needed] This gene encodes an iron-sulfur containing DNA helicase that belongs to the superfamily 2 of helicases. This protein interacts with the 9-1-1 checkpoint complex protein.[citation needed]
The inheritance pattern is not yet clear.
## Diagnosis[edit]
The diagnosis may be suspected on clinical grounds and can be confirmed by sequencing the DDX11 gene.[citation needed]
### Differential diagnosis[edit]
The DDX should be based on the following:[citation needed]
* Bloom syndrome
* Cornelia de Lange syndrome
* Fanconi anemia
* Nijmegen breakage syndrome
* Roberts syndrome
* Xeroderma pigmentosum
## Treatment[edit]
There is no known curative treatment for this condition presently. Management is supportive.[citation needed]
## History[edit]
This condition was first described in 2010.[4]
## References[edit]
1. ^ "OMIM Entry - # 613398 - WARSAW BREAKAGE SYNDROME; WABS". omim.org. Retrieved 29 October 2019.
2. ^ Alkhunaizi E, Shaheen R, Bharti SK, Joseph-George AM, Chong K, Abdel-Salam GMH, Alowain M, Blaser SI, Papsin BC, Butt M, Hashem M, Martin N, Godoy R, Brosh RM Jr, Alkuraya FS, Chitayat D (2018) Warsaw breakage syndrome: Further clinical and genetic delineation. Am J Med Genet A doi: 10.1002/ajmg.a.40482
3. ^ Pisani FM (2019) Spotlight on Warsaw Breakage Syndrome. Appl Clin Genet 12:239-248
4. ^ van der Lelij P, Chrzanowska KH, Godthelp BC, Rooimans MA, Oostra AB, Stumm M, Zdzienicka MZ, Joenje H, de Winter JP (2010) Warsaw breakage syndrome, a cohesinopathy associated with mutations in the XPD helicase family member DDX11/ChlR1. Am J Hum Genet 86(2):262-6. doi: 10.1016/j.ajhg.2010.01.008
Classification
D
* OMIM: 613398
*[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
| Warsaw breakage syndrome | c3150658 | 29,243 | wikipedia | https://en.wikipedia.org/wiki/Warsaw_breakage_syndrome | 2021-01-18T18:38:48 | {"gard": ["13708"], "umls": ["C3150658"], "orphanet": ["280558"], "wikidata": ["Q23542366"]} |
A number sign (#) is used with this entry because of evidence that hereditary sensory neuropathy type V (HSAN5) is caused by homozygous mutation in the NGF gene (162030) on chromosome 1p13.
For a discussion of genetic heterogeneity of hereditary sensory and autonomic neuropathy, see HSAN1 (162400).
Clinical Features
Low et al. (1978) reported a 6-year-old child with congenital sensory neuropathy characterized by a selective loss of pain and thermal sensation affecting the extremities. Nerve conduction studies were normal. Small myelinated fibers were selectively reduced in the sural nerve, and unmyelinated fibers were normal.
Dyck et al. (1983) reported a girl with congenital insensitivity to pain. She responded to tactile stimuli, had preserved tendon reflexes, and had normal motor and sensory nerve conductions. She had self-mutilation of the lips, tongue, and fingers, and mild autonomic involvement, including skin blotching, decreased sweating, and episodic increased body temperature. Nerve conduction velocities were normal, but no somatosensory evoked responses could be recorded over the spine from tibial nerve stimulation. Nerve biopsy showed a selective, virtually complete absence of small myelinated afferent fibers, and a less apparent reduction in the number of unmyelinated fibers. Dyck et al. (1983) referred to the case of Low et al. (1978), and termed the disorder in both cases HSAN type V. Dyck et al. (1983) noted that many similar earlier cases reported as 'congenital indifference to pain' or 'congenital anesthesia' (see 243000), which are characterized by an absence of nerve pathology, were reported before the application of methods to assess the physiologic function of nerve fibers; therefore, some of these cases may have been HSAN4 (256800) or HSAN5.
In an inbred Kashmiri family, Donaghy et al. (1987) described 3 members with a congenital sensory and autonomic neuropathy and corneal opacification. Pain and temperature sensation was lost in the limbs with a resulting mutilating acropathy. Sudomotor function was also impaired, with areas of anhidrosis. Motor function, tendon reflexes, large fiber sensory modalities, and sensory nerve action potentials were normal. Sural nerve biopsy showed a selectively reduced small myelinated nerve fiber population. Unmyelinated axons showed normal density with some evidence of degeneration. Corneal histology showed neurotrophic keratitis. The 3 affected individuals occurred in 2 sibships related to each other as first cousins once removed and were children of first-cousin parents.
Itoh et al. (1999) reported a pair of female monozygotic twin infants who had generalized loss of pain sensation without impairment of other sensory modalities or diaphoretic function. Sural nerve biopsy showed that the number of small myelinated fibers was reduced and that of unmyelinated fibers was normal or mildly reduced. The authors suggested a diagnosis of HSAN5.
Karkashan et al. (2002) reported 2 sibs from Saudi Arabia with congenital insensitivity to pain. Three additional members of related families who could be traced back to the same grandfather were also affected. All patients had normal intelligence, normal sweating, and normal appreciation of other sensory modalities. All had painless injuries resulting in cuts, bruises, and fractures.
Einarsdottir et al. (2004) described a large multigenerational consanguineous family from northern Sweden suffering from loss of pain perception but with most other neurologic functions intact. The patients suffered from a severe loss of deep pain perception that prevented them from feeling pain from bone fractures and joints; heat perception was also impaired. Decreased deep pain perception led to destroyed joints (Charcot joints) in childhood. Most other neurologic functions including sweating and mental abilities were intact. A number of additional family members suffered from a less severe phenotype presenting as joint problems mostly in the feet and knees and resulting in Charcot joints later in life. Neurophysiologic and neuropathologic findings showed that the patients in this family suffered from a peripheral neuropathy with a severe reduction of unmyelinated nerve fibers and a moderate loss of thin myelinated nerve fibers. Einarsdottir et al. (2004) classified the neuropathy in this family as HSAN5, which is characterized by loss of pain perception, impaired temperature sensitivity, ulcers, and in some cases self-mutilation, and in which the autonomic involvement is variable (Hilz, 2002).
Carvalho et al. (2011) reported a consanguineous Emirati Bedouin family in which 5 sibs ranging in age from 2 to 12 years had HSAN5 and mild mental retardation. The first medical problem was biting of lips, tongue, and digits without apparent discomfort or pain. None could discriminate heat and cold or detect hot spicy food, and all had anhidrosis. Mild mental retardation was evident by the age of 4 years. With age, all developed a prematurely aged appearance, with malar hypoplasia, sunken eyes, and loss of teeth. All had suffered multiple, painless, injuries of varying severity and showed poor wound healing, which the authors suggested may reflect a mild immunodeficiency. There was a normal response to insect bites, which may serve as a proxy for an intradermal histamine flare test. In a reevaluation of the family reported by Carvalho et al. (2011), Hepburn et al. (2014) noted that patients with HSAN5 also had frequent severe Staphylococcus aureus infections of the skin, teeth, joints, and bone, suggesting a pathogen-specific immune defect.
Mapping
In 3 severely affected members of a large consanguineous family from northern Sweden with HSAN5, Einarsdottir et al. (2004) screened for shared homozygosis regions. They identified an 8.3-Mb region on chromosome 1p13.2-p11.2 shared by the affected members.
Molecular Genetics
Einarsdottir et al. (2004) demonstrated that all 3 severely affected family members of the Swedish family with HSAN5 studied by them were homozygous for a 661C-T transition in the gene encoding nerve growth factor-beta (NGFB; 162030). The mutation was predicted to result in a substitution of tryptophan for arginine-211 (162030.0001) in a highly conserved region of the protein.
Carvalho et al. (2011) identified a homozygous loss of function mutation in the NGFB gene (162030.0002) in a consanguineous Emirati Bedouin family with HSAN5 and mild mental retardation. The findings expanded the phenotype of HSAN5 to be closer to that of HSAN4, indicating that there is a phenotypic spectrum due to changes in the NGF/TRKA signaling pathway.
INHERITANCE \- Autosomal recessive HEAD & NECK Mouth \- Accidental injury and ulceration of the lips and tongue due to decreased sensation SKELETAL \- Painless fractures due to injury Hands \- Acral ulceration and osteomyelitis leading to autoamputation of the digits Feet \- Acral ulceration and osteomyelitis leading to autoamputation of the digits SKIN, NAILS, & HAIR Skin \- Acral ulcers \- Anhidrosis, patchy, in some patients NEUROLOGIC Central Nervous System \- Mental retardation, mild (1 family) Peripheral Nervous System \- Pain insensitivity, distal \- Temperature insensitivity, distal, in some patients \- Normal large myelinated fiber sensory modalities \- Normal reflexes \- Selective decrease in small myelinated fibers seen on sural nerve biopsy \- Mild reduction in unmyelinated fibers METABOLIC FEATURES \- Increased body temperature, episodic, in some patients IMMUNOLOGY \- Increased susceptibility to severe and frequent infections with Staphylococcus aureus MISCELLANEOUS \- Onset in infancy \- Accidental injury to the self (mouth, digits) has been referred by some as 'self-mutilation' MOLECULAR BASIS \- Caused by mutation in the nerve growth factor-beta gene (NGFB, 162030.0001 ) ▲ 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
| NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE V | c0002768 | 29,244 | omim | https://www.omim.org/entry/608654 | 2019-09-22T16:07:24 | {"doid": ["0070145"], "mesh": ["D000699"], "omim": ["608654"], "orphanet": ["64752"], "synonyms": ["Alternative titles", "HSAN V", "INSENSITIVITY TO PAIN, CONGENITAL"], "genereviews": ["NBK481553"]} |
A form of thoracic outlet syndrome that presents as unilateral upper extremity ischemia.
## Epidemiology
Determination of incidence is difficult due to the lack of a confirmatory test for TOS. ATOS accounts for less than 1% of all cases of TOS.
## Clinical description
ATOS occurs spontaneously in patients of all ages and presents with upper extremity ischemia (pain, pallor, anesthesia, coldness, claudication). Rarely subclavian thrombi embolize retrograde causing stroke.
## Etiology
Symptoms of ATOS are caused by subclavian artery compression (often by a cervical rib), or emboli. Subclavian artery compression in the neck results in poststenotic dilation, aneurysm formation, turbulent flow and thrombus formation.
## Diagnostic methods
Diagnosis is based on a history of upper extremity ischemia and diminished distal pulses or decreased systolic blood pressure in the affected limb. A cervical rib or long cervical transverse process is identified in over 90% of patients. Subclavian stenosis, occlusion or aneurysm on dynamic ultrasonography, magnetic resonance angiography or arteriography supports the diagnosis. Provocative physical exam maneuvers such as the Roos (test is positive when patient is unable to maintain the position of opening and closing hands while arms are in an elevated position for 3 minutes) and Adson's (test is positif if radial pulse disappears while turning the head with extended neck following deep inspiration) tests can also be helpful.
## Differential diagnosis
Differential diagnoses include venous and neurogenic TOS (see these terms), peripheral artery disease and other disorders leading to arterial compromise, such as external compression by a tumor. Venous TOS can be ruled out with venous ultrasound or magnetic resonance venography. True neurogenic TOS presents as a lower trunk brachial plexopathy. Patients with PAD have atherosclerotic risk factors. Other external causes of compression can be ruled out with the appropriate cross sectional imaging.
## Management and treatment
Acute arterial ischemia is treated with thrombolysis or embolectomy. Surgical decompression is indicated in symptomatic patients. Arterial reconstruction may be necessary. Physical therapy is generally not helpful.
## Prognosis
Arterial occlusion is limb threatening, but most patients recover full function when treated appropriately. In 91% of cases, ATOS decompression results in complete resolution of symptoms.
*[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
| Arterial thoracic outlet syndrome | c1956395 | 29,245 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=357107 | 2021-01-23T17:18:14 | {"mesh": ["D013901"], "umls": ["C1956395"], "icd-10": ["G54.0"], "synonyms": ["ATOS", "Arterial TOS", "Arterial cervical rib syndrome", "Arterial costoclavicular syndrome", "Arterial hyperabduction syndrome", "Arterial scalenus anticus syndrome", "Arterial thoracic outlet compression syndrome"]} |
MDA5 deficiency is a disorder of the immune system (immunodeficiency) that leads to recurrent, severe infections of the lungs and airways (respiratory tract) beginning in infancy. These infections are most frequently caused by rhinovirus (the virus that causes the common cold). Respiratory syncytial virus (RSV) and the influenza (flu) virus may also cause recurrent infections in affected individuals. While infection by these viruses is common in all children, it usually causes mild symptoms and lasts only a short time before being cleared by a healthy immune system. In contrast, individuals with MDA5 deficiency frequently require hospitalization due to the severity of the symptoms caused by the infection. Repeated infections can contribute to chronic lung disease.
Infections usually become less frequent with age in people with MDA5 deficiency, as the body's immune system matures and develops other mechanisms for fighting viruses.
## Frequency
MDA5 deficiency is likely a rare disorder. Its prevalence is unknown.
## Causes
MDA5 deficiency is caused by mutations in the IFIH1 gene, which provides instructions for making the MDA5 protein. These mutations lead to production of an altered MDA5 protein that cannot function, resulting in a shortage (deficiency) of MDA5 activity.
The MDA5 protein plays an important role in innate immunity, the body's early, nonspecific response to foreign invaders (pathogens) such as viruses and bacteria. In particular, the protein recognizes a molecule called double-stranded RNA (a chemical cousin of DNA), which certain viruses, including rhinovirus, RSV, and the flu virus, have as their genetic material or produce when they infect cells and copy (replicate) themselves. (Another subset of viruses has DNA as their genetic material.) When the MDA5 protein recognizes pieces of viral RNA inside the cell, it helps turn on the production of immune system proteins called interferons. Interferons stimulate the immune system to fight infections.
Deficiency of MDA5 protein activity reduces interferon production in response to RNA-containing viruses. A lack of the important early immune response stimulated by interferons leads to severe viral infections in infants with MDA5 deficiency.
### Learn more about the gene associated with MDA5 deficiency
* IFIH1
## Inheritance Pattern
The inheritance pattern of MDA5 deficiency is unclear. In some cases, the condition seems to follow an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition. In other cases, it appears that the condition is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the 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
| MDA5 deficiency | c4708512 | 29,246 | medlineplus | https://medlineplus.gov/genetics/condition/mda5-deficiency/ | 2021-01-27T08:25:15 | {"synonyms": []} |
Polio-like syndrome is a general description of a group of symptoms which mimic polio, including rarely permanent paralysis. Various triggers have been found, including some viruses from the same virus group as polio: enterovirus 68, enterovirus 71, and coxsackievirus A7.[1][2] These are suspected in many cases of acute flaccid myelitis. Other non-virus causes of polio-like symptoms are observed, though rarely, from snake bite, spider bite, scorpion sting, tick bite, or chemicals such as arsenic and organophosphorus insecticides.[3]
## References[edit]
1. ^ 'About 20' cases of polio-like illness found in California, Jacque Wilson and Ashley Hayes, CNN February 25, 2014
2. ^ Vaccines, Elsevier Health Sciences, 2012, p. 605
3. ^ Gear JH (1984). "Nonpolio causes of polio-like paralytic syndromes". Rev Infect Dis. 6 Suppl 2: S379-84. doi:10.1093/clinids/6.supplement_2.s379. PMID 6740077.
This article about a medical condition affecting the nervous 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
| Polio-like syndrome | c0235061 | 29,247 | wikipedia | https://en.wikipedia.org/wiki/Polio-like_syndrome | 2021-01-18T18:50:55 | {"umls": ["C0235061"], "wikidata": ["Q16999995"]} |
A number sign (#) is used with this entry because of evidence that retinitis pigmentosa-30 (RP30) is caused by mutation in the retinal fascin gene (FSCN2; 607643) on chromosome 17q25.
For a phenotypic description and a discussion of genetic heterogeneity of retinitis pigmentosa, see 268000.
Clinical Features
Wada et al. (2001) studied 4 Japanese families segregating autosomal dominant retinitis pigmentosa (adRP). All 14 affected patients had had night blindness from childhood. Their visual acuity ranged from hand motion to 1.0. Fundus examination of affected members of 3 generations of 1 family disclosed the progression of retinal degeneration with increasing age. In the early stage, a 10-year-old patient showed a mottled appearance of the retinal pigment epithelium (RPE) and attenuation of the retinal vessels. In all families, affected individuals older than 40 years showed marked retinal degeneration.
### Macular Degeneration
Wada et al. (2003) reported 2 Japanese families segregating autosomal dominant macular degeneration. The proband of the first family had gradual progression of visual impairment, photophobia, and constriction of visual fields in his 40s. Examination at 52 years of age showed mottling of the RPE in the posterior pole bilaterally, with diffuse hyperfluorescence around the macula in the right eye and oval and round hyperfluorescent lesions in the posterior pole of the left eye. He also exhibited decreased color vision, but electroretinography (ERG) was within normal limits. He subsequently experienced accelerated deterioration of central visual acuity, reduced to counting fingers bilaterally by age 61. At that time, fundus examination showed bilateral atrophic macular degeneration and a more severely mottled appearance of the RPE, with diffuse retinal mottling in the midperiphery as well as oval areas of hyper- and hypofluorescence within the lesions. Fundus examination of the proband's asymptomatic 37-year-old son showed a mottled appearance of the RPE, yellowish deposits in the macula, and an irregular ring reflex bilaterally. There was granular hyperfluorescence from the posterior pole to the midperiphery bilaterally. In the second family, the 26-year-old proband noted decreased visual acuity in childhood and was diagnosed with retinal degeneration at 8 years of age. Fundus examination at age 13 showed mildly demarcated atrophic macular degeneration associated with diffuse mottling of the retina in the midperiphery bilaterally, with areas of hyper- and hypofluorescence corresponding to RPE atrophy and chorioretinal atrophy, respectively. ERGs showed reduced mixed cone-rod b-wave amplitudes, oscillatory potentials, and 30-Hz flicker responses. He experienced accelerated deterioration of central visual acuity after age 13, and examination at age 24 showed atrophic macular degeneration with progression of pigmentation in both eyes. Kinetic visual field testing revealed absolute scotomas with relatively well-preserved peripheral areas. At 8 years of age, the proband's asymptomatic sister had mottling of the RPE in the posterior poles and reduction of mixed cone-rod a- and b-wave amplitudes as well as oscillatory potentials. At 15 years of age, fundus examination showed tortuous vessels, reddish optic discs, mottling of RPE bilaterally, and pigmentation in the left macula; the atrophic lesions had enlarged slightly since age 8. There was slight peripheral constriction of visual fields but no central or paracentral scotoma. The sibs' asymptomatic 50-year-old mother had tortuosity of retinal vessels and mild RPE atrophy in the posterior poles and midperiphery, as well as mild peripheral constriction of visual fields.
Molecular Genetics
Wada et al. (2001) performed mutation screening by SSCP in unrelated Japanese families with RP, including 120 patients with adRP, 200 patients with arRP, and 100 patients with simplex RP. In all 14 affected members from 4 adRP families, Wada et al. (2001) identified a heterozygous 208delG mutation in the retinal FSCN2 gene (607643.0001). The mutation was not found in unaffected members of the 4 families or in any of the autosomal recessive or simplex RP family members. Wada et al. (2001) suggested that the mutation may be relatively common in Japanese patients with adRP.
In 5 affected individuals from 2 Japanese families with macular degeneration, who were negative for mutation in the RDS (PRPH2; 179605), CRX (602225), and GUCY2D (600179) genes, Wada et al. (2003) identified heterozygosity for the same 208delG mutation in the FSCN2 gene (607643.0001) that previously had been identified in patients with autosomal dominant RP (Wada et al., 2001). The mutation segregated with disease in both families.
Gamundi et al. (2005) analyzed the FSCN2 gene in 150 Spanish probands with adRP and 15 with autosomal dominant macular degeneration, 50 patients with sporadic RP, and 50 controls. They detected 16 sequence variations in the patients, including 9 missense mutations, 1 nonsense mutation, and 6 silent mutations, none of which cosegregated with disease in the respective families. Gamundi et al. (2005) suggested that the frequency and type of mutation in FSCN2 might depend on the ethnic population, and proposed that unknown genetic factors might be linked to FSCN2 that could modulate its mutant expression in retinal degeneration.
Zhang et al. (2007) excluded the c.72delG mutation (previously designated 208delG) as a cause of retinal degeneration in a Chinese population. Although the deletion was detected in 8 of 242 patients, including 6 with RP, 1 with Leber congenital amaurosis (see 204000), and 1 with cone-rod dystrophy (see 120970), it was also found in 5 unaffected family members and in 13 of 521 unrelated control subjects. Zhang et al. (2007) cited 3 other studies in which the 72delG mutation was not detected in 458 probands with retinal degeneration from Spanish, Italian, and U.S. populations (Gamundi et al., 2005, Ziviello et al., 2005, Sullivan et al., 2006, respectively). Zhang et al. (2007) also noted that it was highly unusual that the same mutation would cause both rod-cone and cone-rod retinal degeneration.
Jin et al. (2008) studied FSCN2 copy number variation (CNV) and the c.72delG mutation in 54 Japanese controls with a normal retina as well as in 32 patients suspected of having X-linked RP who were negative for mutation in the RPGR (312610) or RP2 (300757) genes. They detected 4 copies of FSCN2 in all individuals, and found the c.72delG mutation in 1 control and in 1 severely affected X-linked RP patient. Analysis of CNV in c.72delG mutation carriers, including 3 previously studied adRP patients and 2 controls, showed that 3 of the RP patients and all 3 controls carrying the c.72delG mutation had a 1:1 ratio of wildtype-to-mutant alleles; however, 1 severely affected RP patient was found to have a 4:1 wildtype-to-mutant allelic ratio. Based on these findings, Jin et al. (2008) suggested that FSCN2 was unlikely to be the pathogenic cause of retinal degeneration.
Animal Model
Yokokura et al. (2005) generated mice carrying the Fscn2 208delG mutation or an Fscn2 exon 1-null allele. Homozygotes or heterozygotes for either mutation were morphologically normal, viable, and fertile, but exhibited progressive photoreceptor degeneration with increasing age by light microscopy. Structural abnormalities of the outer segment of the retina were detected by transmission electron microscopy, and electroretinography documented depressed rod and cone responses that also worsened with increasing age.
*[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
| RETINITIS PIGMENTOSA 30 | c0035334 | 29,248 | omim | https://www.omim.org/entry/607921 | 2019-09-22T16:08:31 | {"doid": ["0110406"], "mesh": ["D012174"], "omim": ["607921"], "orphanet": ["791"], "genereviews": ["NBK1417"]} |
A number sign (#) is used with this entry because linkage of early-onset coronary artery disease to chromosome 3q13 can be accounted for, at least in part, by single-nucleotide polymorphism in the KALRN gene (604605).
For a discussion of genetic heterogeneity of coronary heart disease (CHD), see 607339.
Mapping
To identify genetic factors for coronary artery disease (CAD), Hauser et al. (2004) performed a genomewide scan in 1,168 persons from 438 families, including 493 affected sib pairs with a documented onset of CAD before 51 years of age in men and before 56 years of age in women. They identified a region on chromosome 3q13 that is linked to early-onset CAD and identified an additional region of interest on 1q25 that also met the criteria for genomewide significance. Chromosome 3q13 achieved a maximum parametric lod score of 2.3 at D3S2460 and a multipoint lod score of 3.5 near D3S2460 at 140 cM. Using ordered subset analysis, Shah et al. (2006) found that the linkage evidence for this peak was significantly increased in families with high HDL (high density lipoprotein) cholesterol levels. Bowden et al. (2006) also reported linkage to D3S2460 for coronary artery disease and stroke in the Diabetes Heart Study, with a similar broad linkage region (multipoint lod = 2.5).
Molecular Genetics
To evaluate association under the chromosome 3 linkage peak, Wang et al. (2007) completed an association-mapping study across the 1-lod-unit-down supporting interval. The peakwide survey found evidence of association in SNPs for multiple genes. The strongest associations were found in 3 SNPs from the KALRN gene (604605), especially in patients with early-onset CAD. Investigation of the KALRN gene found that an intronic SNP, rs9289231, was associated with early-onset CAD in all white data sets examined (P less than 0.05). In the joint analysis of 332 white, early-onset CAD cases and 546 controls, this SNP was highly significant (P = 0.00008), with an odds ratio estimate of 2.1. Furthermore, the risk allele of this SNP was associated with atherosclerosis burden (P = 0.03) in 145 human aortas. The highly associated SNP resided in the first intron of an alternative transcript of the KALRN gene. KALRN is a protein with many functions, including the inhibition of inducible nitric oxide synthase (INOS; 163730) and guanine exchange factor activity. KALRN and 2 other associated genes identified in this study, CDGAP and MYLK (600922), participate in the Rho GTPase signaling pathway. Wang et al. (2007) concluded that their data suggested the importance of the KALRN gene and the Rho GTPase signaling pathway in the pathogenesis of CAD.
*[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
| CORONARY HEART DISEASE, SUSCEPTIBILITY TO, 5 | c1837173 | 29,249 | omim | https://www.omim.org/entry/608901 | 2019-09-22T16:07:00 | {"omim": ["608901"], "synonyms": ["Alternative titles", "CHDS5", "CORONARY ARTERY DISEASE, EARLY-ONSET"]} |
Tylosis with esophageal cancer (TOC)is an inherited condition that increases the risk for esophageal cancer. The symptoms of TOC include thickening of the skin on the palms and soles of the feet (palmoplantar keratoderma) and white lesions inside the mouth. People with TOC are at very high risk to develop esophageal cancer. The palmoplantar keratoderma usually occurs in childhood, and esophageal cancer usually occurs in adulthood. TOC is caused by a variant in the RHBDF2 gene and is inherited in an autosomal dominant pattern. Diagnosis is based on the symptoms, clinical exam, and family history. The diagnosis may be confirmed by the results of genetic testing. Treatment is focused on managing the risk for esophageal cancer through screening and avoiding smoking and alcohol use.
*[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
| Tylosis with esophageal cancer | c1835664 | 29,250 | gard | https://rarediseases.info.nih.gov/diseases/3102/tylosis-with-esophageal-cancer | 2021-01-18T17:57:15 | {"mesh": ["C536164"], "omim": ["148500"], "orphanet": ["2198"], "synonyms": ["TOC", "Keratosis palmoplantaris with esophageal cancer", "Howel-Evans syndrome", "Keratosis palmaris et plantaris with esophageal cancer", "Howell-Evans syndrome", "Keratosis palmoplantaris-esophageal carcinoma syndrome", "Palmoplantar hyperkeratosis-esophageal carcinoma syndrome", "Tylosis - oesophageal carcinoma", "Tylosis-oesophageal carcinoma syndrome", "Palmoplantar keratoderma-esophageal carcinoma syndrome", "Bennion-Patterson syndrome"]} |
A number sign (#) is used with this entry because of evidence that spastic paraplegia-62 (SPG62) is caused by homozygous mutation in the ERLIN1 gene (611604) on chromosome 10q24.
For a discussion of genetic heterogeneity of autosomal recessive SPG, see SPG5A (270800).
Clinical Features
Novarino et al. (2014) reported 3 multiplex consanguineous families segregating autosomal recessive spastic paraplegia-62. Three sibs in the first family (family 786) presented with complaints ranging from leg pain to walking disability between the ages of 2.5 and 13 years. All 3 showed spasticity, and 1 showed dysarthria. In their twenties, all could walk unsupported for a short distance. All had cerebellar signs and normal eye findings as well as increased deep tendon reflexes, amyotrophy, and normal brain MRIs. Two had borderline IQ and 1 had normal cognition. The oldest sib had thoracic scoliosis. In the second family (family 1098), 2 brothers presented between the ages of 2 and 3 years with tiptoe walking in both and spasticity of the lower limbs in one. At ages 19 and 20 years, they could walk unsupported with a spastic gait. One brother had absent patellar and Achilles tendon reflexes, and the other had increased deep tendon reflexes. Both had normal MRIs and normal cognition, and both had flexion contractures of the knees. In a third family (family 1598), 2 sisters presented between 17 and 20 months of age with tiptoe walking and spasticity of the lower limbs. At ages 8 and 12 years, they could both walk independently with abnormal gait, and both had increased deep tendon reflexes, including clonus. Both had normal brain MRIs and normal cognition.
Molecular Genetics
In affected members of 3 consanguineous families with spastic paraplegia, Novarino et al. (2014) identified homozygous mutations in the ERLIN1 gene (see, e.g., 611604.0001-611604.0002).
INHERITANCE \- Autosomal recessive SKELETAL Spine \- Thoracic scoliosis (1 patient) Limbs \- Flexion contractures of the knees MUSCLE, SOFT TISSUES \- Amyotrophy NEUROLOGIC Central Nervous System \- Lower limb spasticity \- Spastic gait \- Walking on tiptoes \- Hyperreflexia \- Clonus \- Absent patellar reflexes (1 patient) \- Absent Achilles tendon reflexes (1 patient) \- Dysarthria (1 patient) MISCELLANEOUS \- Progressive disorder \- Age at onset, 20 months to 13 years MOLECULAR BASIS \- Caused by mutation in the endoplasmic reticulum lipid raft-associated protein 1 (ERLIN1, 611604.0001 ) ▲ 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
| SPASTIC PARAPLEGIA 62, AUTOSOMAL RECESSIVE | c4284588 | 29,251 | omim | https://www.omim.org/entry/615681 | 2019-09-22T15:51:18 | {"doid": ["0110813"], "omim": ["615681"], "orphanet": ["401785"], "synonyms": ["SPG62"]} |
A number sign (#) is used with this entry because of evidence that X-linked mental retardation-102 (MRX102) is caused by mutation in the DDX3X gene (300160) on Xp11.
Clinical Features
Snijders Blok et al. (2015) reported 38 females with mild to severe intellectual disability and variable neurologic features, including hypotonia in 12 (76%), movement disorders comprising dyskinesia, spasticity, and stiff-legged or wide-based gait in 17 (45%), microcephaly in 12 (32%), behavioral problems such as autism spectrum disorder, hyperactivity, and aggression in 20 (53%), and epilepsy in 6 (16%). Additional variable nonneurologic features included joint hyperlaxity, skin pigmentary abnormalities, cleft lip and/or palate, hearing and visual impairment, and precocious puberty. Some patients had abnormal brain imaging findings, such as corpus callosum hypoplasia (35%), ventricular enlargement (35%), and evidence of cortical dysplasia (4 patients). Although common dysmorphic facial features were noted, there was no consistent recognizable phenotype. Five males from 3 additional, unrelated families also had MRX102. Features included mild to severe intellectual disability, movement disorders, such as spasticity, behavioral problems, and variable dysmorphic features. Carrier females in these 3 families were unaffected.
Inheritance
The transmission pattern of mental retardation in 38 females from 35 families reported by Snijders Blok et al. (2015) was consistent with X-linked dominant inheritance.
The transmission pattern of mental retardation in males in 3 families reported by Snijders Blok et al. (2015) was consistent with X-linked recessive inheritance. Carrier females in these families were unaffected.
Molecular Genetics
Snijders Blok et al. (2015) identified 35 different de novo heterozygous mutations in the DDX3X gene (see, e.g., 300160.0001-300160.0004) in 38 girls with X-linked dominant mental retardation-102. The mutations were found by whole-exome sequencing of 3 large cohorts of patients referred for testing (including the Deciphering Developmental Disorders Study, 2015); DDX3X mutations were found in 1 to 3% of these patient cohorts, rendering it one of the most common causes of intellectual disability in females. Nineteen of the mutations were predicted to cause complete loss of function, resulting in haploinsufficiency in the female patients. In vitro cellular functional expression studies and in vivo studies in zebrafish of some of the identified missense mutations showed that they caused a loss of function in the canonical WNT signaling pathway with a disruption of beta-catenin signaling. There was no evidence for a dominant-negative effect; Snijders Blok et al. (2015) postulated haploinsufficiency as the disease mechanism. De novo variants were not found in any male patients who were part of the cohorts, but affected males in 3 families were found to carry hemizygous missense mutations in the DDX3X gene (see, e.g., 300160.0005) that were inherited from an unaffected mother. Functional studies revealed no differences of the male mutant alleles from wildtype, but Snijders Blok et al. (2015) speculated that they were pathogenic and that the effect of the mutant alleles was beyond the detection range of the assays. The results were consistent with the hypothesis that DDX3X is dosage sensitive and may have differential activity in females than in males.
INHERITANCE \- X-linked dominant \- X-linked recessive GROWTH Weight \- Low weight (in some patients) HEAD & NECK Head \- Microcephaly (in some patients) Face \- Dysmorphic facial features (in some patients) Ears \- Hearing loss (in some patients) Eyes \- Visual problems (in some patients) Mouth \- Cleft lip (in some patients) \- Cleft palate (in some patients) SKELETAL \- Joint hyperlaxity (in some patients) Spine \- Scoliosis (in some patients) SKIN, NAILS, & HAIR Skin \- Pigmentation abnormalities (in some patients) MUSCLE, SOFT TISSUES \- Hypotonia NEUROLOGIC Central Nervous System \- Intellectual disability, variable \- Seizures (in some patients) \- Movement disorders (in some patients) \- Dyskinesia (in some patients) \- Wide-based gait (in some patients) \- Spasticity (in some patients) \- Corpus callosum hypoplasia (in some patients) \- Enlarged ventricles (in some patients) \- Cortical malformations (in some patients) Behavioral Psychiatric Manifestations \- Autistic spectrum disorder (in some patients) \- Hyperactivity (in some patients) \- Aggression (in some patients) ENDOCRINE FEATURES \- Precocious puberty (in some patients) MISCELLANEOUS \- Onset in infancy \- No consistent dysmorphic facial phenotype \- Affected girls have de novo heterozygous mutations consistent with X-linked dominant inheritance \- Affected boys in 3 unrelated families have been reported, consistent with X-linked recessive inheritance (last curated September, 2015) MOLECULAR BASIS \- Caused by mutation in the DEAD/H box 3, X-linked gene (DDX3X, 300160.0001 ) ▲ 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
| MENTAL RETARDATION, X-LINKED 102 | c4085582 | 29,252 | omim | https://www.omim.org/entry/300958 | 2019-09-22T16:19:15 | {"omim": ["300958"], "orphanet": ["457260"], "synonyms": []} |
A number sign (#) is used with this entry because of evidence that congenital disorder of glycosylation type IIo (CDG2O) is caused by homozygous or compound heterozygous mutation in the CCDC115 (613734) gene on chromosome 2q21.
Description
Congenital disorder of glycosylation type IIo (CDG2O) is an autosomal recessive metabolic disorder characterized by infantile onset of progressive liver failure, hypotonia, and delayed psychomotor development. Laboratory abnormalities include elevated liver enzymes, coagulation factor deficiencies, hypercholesterolemia, and low ceruloplasmin. Serum isoelectric focusing of proteins shows a combined defect of N- and O-glycosylation, suggestive of a Golgi defect (summary by Jansen et al., 2016).
For a general discussion of CDGs, see CDG1A (212065).
Clinical Features
Jansen et al. (2016) reported 8 patients from 5 unrelated families with a severe metabolic disorder primarily affecting the liver. The patients presented with hypotonia, hepatosplenomegaly with elevated liver enzymes often associated with neonatal jaundice, and delayed psychomotor development. Laboratory abnormalities in most patients included low ceruloplasmin, hypercholesterolemia, decreased coagulation factors, and increased bone-derived alkaline phosphatase. Liver biopsies showed variable fibrosis, necrotic lesions, cirrhosis, and, in 1 patient, increased copper. Several patients had mild dysmorphic features, such as long face or ptosis. All patients had a type 2 pattern on serum transferrin isoelectric focusing (IEF), indicating abnormal N-glycosylation, as well as abnormal IEF of ApoC-III, indicating abnormal O-glycosylation. Two patients underwent liver transplant, one of whom died related to complications, and a third patient died at age 7 months. The patients were of various ethnic origins, including Turkish, Portuguese, Italian, and French. Two of the families were consanguineous, including 1 family originally reported by Mohamed et al. (2011).
Inheritance
The transmission pattern of CDG2O in the families reported by Jansen et al. (2016) was consistent with autosomal recessive inheritance.
Molecular Genetics
In 6 patients from 4 unrelated families with CDG2O, Jansen et al. (2016) identified 2 different missense mutations in the CCDC115 gene (613734.0001 and 613734.0002). A seventh patient from a fifth family was compound heterozygous for 1 of the mutations and a deletion encompassing the entire CCDC115 gene. The mutations in the first 2 families were found by exome sequencing; all mutations segregated with the disorder in the families. Direct functional studies of the variants were not performed. Isoelectric focusing of serum proteins in the patients showed a combined defect of N- and O-glycosylation, suggestive of a Golgi defect. Patient fibroblasts showed defects in Golgi glycosylation as manifest by metabolic labeling of sialic acids, and the defect could be rescued by transfection of wildtype CCDC115. Fibroblasts of 1 patient showed a dilated endoplasmic reticulum. The findings suggested a role for CCDC115 in Golgi homeostasis and/or trafficking.
INHERITANCE \- Autosomal recessive HEAD & NECK Face \- Dysmorphic facial features, mild (in some patients) \- Long face (in some patients) Eyes \- Ptosis (in some patients) \- Downslanting palpebral fissures (in some patients) ABDOMEN Liver \- Hepatomegaly \- Liver dysfunction \- Liver fibrosis \- Cholestatic liver disease, progressive \- Cirrhosis \- Copper accumulation (in some patients) Spleen \- Splenomegaly SKIN, NAILS, & HAIR Skin \- Jaundice, neonatal MUSCLE, SOFT TISSUES \- Hypotonia \- Muscle atrophy NEUROLOGIC Central Nervous System \- Delayed psychomotor development \- Seizures (in some patients) HEMATOLOGY \- Decreased serum coagulation factors LABORATORY ABNORMALITIES \- Type 2 pattern of transferrin, indicating N-glycosylation defect \- Abnormal ApoC-III glycosylation, indicating O-glycosylation defect \- Abnormal liver enzymes \- Low ceruloplasmin \- Increased bone-derived alkaline phosphatase \- Hypercholesterolemia \- Increased serum creatine kinase (in some patients) MISCELLANEOUS \- Onset in infancy MOLECULAR BASIS \- Caused by mutation in the coiled-coil domain-containing protein 115 gene (CCDC115, 613734.0001 ) ▲ 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
| CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIo | c4225191 | 29,253 | omim | https://www.omim.org/entry/616828 | 2019-09-22T15:47:48 | {"doid": ["0070267"], "omim": ["616828"], "orphanet": ["468684"], "synonyms": ["Congenital disorder of glycosylation type 2o", "Carbohydrate deficient glycoprotein syndrome type IIo", "CDG2O", "Congenital disorder of glycosylation type IIo", "CDG IIo", "CDG syndrome type IIo", "Alternative titles", "CDG-IIo"]} |
A number sign (#) is used with this entry because of evidence that trichohepatoenteric syndrome-1 (THES1) is caused by homozygous or compound heterozygous mutation in the TTC37 gene (614589) on chromosome 5q15.
Description
Although the spectrum of phenotypic expression in trichohepatoenteric syndrome (THES) is broad, the characteristic features include intrauterine growth retardation, woolly hair, facial dysmorphism, intractable diarrhea in infancy requiring total parenteral nutrition, and immunodepression. Hepatic involvement contributes to the poor prognosis of affected patients (summary by Fabre et al., 2007).
### Genetic Heterogeneity of Trichohepatoenteric Syndrome
Trichohepatoenteric syndrome-2 (THES2; 614602) is caused by mutation in the SKIV2L gene (600478) on chromosome 6p21.
Clinical Features
Stankler et al. (1982) reported a seemingly 'new,' presumably autosomal recessive disorder in a sister and brother who died at 33 and 87 days of age, respectively, with severe unexplained diarrhea. Both were of low birth weight for dates and had large, low-set, simple ears, flat nasal bridge, and large mouth. Both had woolly, easily removed black hair showing an abnormality the authors dubbed 'trichorrhexis blastysis.' By scanning microscopy, the hairs showed projections at multiple sites arising from the convex surface of a kinked hair and suggesting buds (Gr. blastosis = bud). The hair had a low content of cystine and an abnormal content of several other amino acids. Both parents had normal hair microscopically and chemically. In both sibs, the diarrhea began in the third week of life and was preceded by excoriated buttocks. Both had galactosuria without galactosemia. At autopsy both had hepatic fibrosis and hemosiderosis and islet cell hyperplasia. Menkes disease (309400) and argininosuccinic aciduria (207900), which have somewhat similar findings in the hair, were excluded by chemical tests.
Girault et al. (1994) reported 8 children with severe secretory diarrhea beginning in the first 6 months of life (less than 1 month in 6 cases). All were small for gestational age and had facial dysmorphism and woolly, easily removable hair with trichorrhexis nodosa. Two children were from consanguineous marriages. Diarrhea was refractive to therapy, including bowel rest. All patients had jejunal biopsies that showed total or subtotal villous atrophy, defective antigen-specific skin tests, and defective antibody responses despite normal serum immunoglobulin levels. Two patients had hepatic cirrhosis, and 3 children had mental retardation. At the time of the report, 5 patients had died between the ages of 2 and 5 years, 2 were fed enterally, and 1 continued to receive total parenteral nutrition. Barabino et al. (2004) reported follow-up of the patient dependent on parenteral nutrition reported by Girault et al. (1994). At age 6 years, she achieved intestinal autonomy with discontinuation of the parenteral nutrition. At age 14 years, she had mild psychomotor and pubertal delay. She had chronic malabsorptive diarrhea, hypoalbuminemia, iron-deficiency anemia, osteoporosis, and impaired intestinal permeability. Immunologic defect was still present, but no other infections were recorded.
Verloes et al. (1997) used the term 'tricho-hepato-enteric syndrome' to describe the disorder in a brother and sister who were noted prenatally to have intrauterine growth retardation, hydramnios, and placental hyperplasia. Both had intractable diarrhea with normal histologic and enzymologic studies. Facial anomalies included hypertelorism, upturned noses, small mouths, and low-set ears. Hair texture and pattern were abnormal. Neurologically, they appeared grossly normal. The sister was noted to have cholestatic jaundice and hepatomegaly at 2 months of age, whereas the brother was noted to have hepatic dysfunction at birth with a high alpha-fetoprotein level. He also had mild and delayed hypermethioninemia. Both died at about 6 months of age. Pathologic examination of both children showed a similar pattern of multivisceral iron deposition compatible with a diagnosis of neonatal hemochromatosis, although the clinical picture of an asymptomatic neonatal period was unusual.
Goulet et al. (1998) studied the clinical and histopathologic features of 47 infants with intractable diarrhea and villous atrophy of varying degrees, dividing them into 2 groups, with or without lamina propria mononuclear cell infiltration. Of the 18 patients in the latter group, 8 had phenotypic abnormalities including facial dysmorphism and abnormal hair; 6 of the 8 patients had previously been reported by Girault et al. (1994).
Landers and Schroeder (2003) reported a 3-year-old girl with severe intractable diarrhea of infancy requiring lifelong total parenteral nutrition. Duodenal biopsy at age 2 months showed villous atrophy, but subsequent biopsies were normal. She had several episodes of line sepsis and pancytopenia on 1 hospitalization. Physical exam at age 3 years found facial dysmorphism with prominent forehead and cheeks, broad nasal root, hypertelorism, and mental retardation. Her hair was brittle with trichorrhexis nodosa in nearly all hair shafts. Hepatomegaly was noted, and liver biopsy showed cirrhosis. Laboratory studies showed mild anemia, leukopenia, and thrombocytopenia. At the time of the report, she was awaiting liver transplant.
Barabino et al. (2004) reported a girl who developed chronic diarrhea at 15 days of age. Total parenteral nutrition was started and then discontinued at 1 year. She had the typical facial features, hair abnormalities, and intestinal findings consistent with what the authors termed 'syndromic diarrhea.' At age 17 years, she showed severe growth delay but normal pubertal development. She had mild mental impairment, intermittent diarrhea, and frequent upper respiratory infections. Intestinal histology had improved. An older sister died during infancy from unexplained diarrhea.
Dweikat et al. (2007) reported a female infant, born of first-cousin parents, with hemochromatosis, intractable diarrhea, dysmorphic features, and hair abnormality. She was born at term and had a normal neonatal course. Failure to thrive was noted at age 1 month. Watery diarrhea began at age 50 days and continued despite dietary changes and 3 weeks of bowel rest. Physical exam at age 3 months showed decreased physical growth, sparse, thin, curly hair, hypertelorism, broad nose, prominent eyes, and umbilical and bilateral inguinal hernias. Laboratory studies showed abnormally increased liver enzymes and increased serum iron content. Liver biopsy showed edema, fibrosis, and iron deposition. Hypermethioninemia was not present. Psychomotor development was normal until her death at age 10 months from intractable diarrhea. Dweikat et al. (2007) noted the phenotypic similarities to the patients reported by Stankler et al. (1982) and Verloes et al. (1997).
Fabre et al. (2007) reported 2 unrelated male infants with THE syndrome. Both developed intractable watery diarrhea requiring total parenteral nutrition at ages 1 and 3 months, respectively. Both also had facial dysmorphism with large forehead, hypertelorism, and broad nasal root, and trichorrhexis nodosa. Other common features included hepatic cirrhosis and mild humoral immunodeficiency. In 1 child, duodenal biopsy showed total villous atrophy at 1 month, and subsequent testing at 20 months showed moderate villous atrophy. Fabre et al. (2007) suggested that THE syndrome and the 'syndromic diarrhea' described by Barabino et al. (2004) are the same disease entity.
Hartley et al. (2010) studied 12 affected children from 11 families with THES, 8 of which were consanguineous. All children exhibited the characteristic facial features and trichorrhexis nodosa of the hair on microscopy. There was a high incidence of preterm delivery and intrauterine growth retardation. Diarrhea developed between 2 weeks of age and 7 months, and all children required parenteral nutrition in infancy; in 2 patients, parenteral nutrition could be discontinued due to improvement in diarrhea. Histologic examination of serially obtained jejunal biopsy specimens suggested that the villous atrophy can improve with age and the inflammatory infiltrate is not consistent. Serum immunoglobulin levels were low in 11 of the 12 children, requiring supplementation during the neonatal period. Cardiac anomalies were present in 5 children, including aortic insufficiency in 2, peripheral pulmonary stenosis in 1, ventricular septal defect in 1, and tetralogy of Fallot in 1. Developmental delay was present in all 7 children who were old enough to be assessed. Previously unrecognized platelet abnormalities were identified in 6 of the children, with large platelets observed in 5 and thrombocytosis in 4; transmission electron microscopy revealed reduced platelet alpha-granules, unusual stimulated alpha-granule content release, abnormal lipid inclusions, abnormal platelet canalicular system, and reduced number of microtubules.
Mapping
Hartley et al. (2010) performed genomewide linkage analysis in 8 children with trichohepatoenteric syndrome from consanguineous families and identified 3 extended regions of homozygosity shared by all 8 children. Further genotyping in all available family members using microsatellite markers excluded 2 of the regions and confirmed linkage to chromosome 5q14.3-q21.2, defining a 12.9-Mb interval between markers D5S815 and D5S409. Multipoint linkage analysis yielded a maximum lod score of 5.8 (theta = 0) at D5S1462.
Molecular Genetics
In 12 children from 11 unrelated families with trichohepatoenteric syndrome mapping to chromosome 5q14.3-q21.2, Hartley et al. (2010) identified homozygosity or compound heterozygosity for 9 different mutations in the candidate gene TTC37 (see, e.g., 614589.0001-614589.0005). All mutations segregated with disease status in the family, and none were detected in at least 350 ethnically matched South Asian and Caucasian control chromosomes.
Fabre et al. (2011) analyzed the TTC37 gene in 12 THES patients from 11 families, including the 2 boys originally reported by Fabre et al. (2007), and identified homozygosity or compound heterozygosity for 11 different mutations in 9 of the patients (see, e.g., 614589.0006-614589.0008). The phenotypes of the 3 female patients in whom no mutation in TTC37 was detected were reevaluated and confirmed as being typical THES, suggesting that at least 1 other gene may be implicated in the disease.
INHERITANCE \- Autosomal recessive GROWTH Height \- Decreased height Weight \- Low birth weight Other \- Failure to thrive \- Intrauterine growth retardation (IUGR) HEAD & NECK Face \- Prominent forehead \- Square forehead \- Prominent cheeks \- Flat supraorbital ridges \- Long philtrum Ears \- Low-set ears \- Simple ears \- Small ears Eyes \- Hypertelorism \- Prominent eyes \- Downslanting palpebral fissures Nose \- Flat, broad nose \- Upturned nose Mouth \- Small mouth \- Large mouth \- Cleft uvula CARDIOVASCULAR Heart \- Aortic insufficiency (in some patients) \- Tetralogy of Fallot (rare) \- Ventricular septal defect (rare) \- Pulmonary stenosis (rare) ABDOMEN Liver \- Cholestatic jaundice \- Hepatomegaly \- Cirrhosis \- Progressive liver failure \- Increased iron in hepatocytes \- Liver fibrosis with nodular regeneration, cholestasis, ductular proliferation, and iron deposition Pancreas \- Islet cell hyperplasia Gastrointestinal \- Diarrhea, secretory, severe \- Villous atrophy GENITOURINARY Kidneys \- Cortical microcysts SKIN, NAILS, & HAIR Hair \- Thin, sparse hair \- Curly hair \- Brittle hair \- Woolly hair \- Trichorrhexis nodosa NEUROLOGIC Central Nervous System \- Mental impairment METABOLIC FEATURES \- Neonatal hemochromatosis HEMATOLOGY \- Thrombocytosis (in some patients) \- Large platelets (in some patients) IMMUNOLOGY \- Defective antibody response \- Defective antigen-specific skin response PRENATAL MANIFESTATIONS \- Intrauterine growth retardation Amniotic Fluid \- Polyhydramnios Placenta & Umbilical Cord \- Large placenta LABORATORY ABNORMALITIES \- Hypoalbuminemia \- Galactosuria without galactosemia \- Hypermethioninemia, progressive \- Increased serum methionine (reported in 2 cases) \- Abnormal serum liver enzyme levels \- Elevated ferritin \- Decreased transferrin Increased serum iron MISCELLANEOUS \- Onset usually in first month of life \- Patients need lifelong total parenteral nutrition \- Often fatal due in infancy due to intractable diarrhea MOLECULAR BASIS \- Caused by mutation in the tetratricopeptide repeat domain 37 gene (TTC37, 614589.0001 ) ▲ 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
| TRICHOHEPATOENTERIC SYNDROME 1 | c1857276 | 29,254 | omim | https://www.omim.org/entry/222470 | 2019-09-22T16:28:43 | {"mesh": ["C565627"], "omim": ["222470"], "orphanet": ["84064"], "synonyms": ["Alternative titles", "THE SYNDROME", "DIARRHEA, SYNDROMIC", "DIARRHEA, FATAL INFANTILE, WITH TRICHORRHEXIS NODOSA"], "genereviews": ["NBK475802"]} |
Microscopic polyangiitis (MPA) is a disorder that causes blood vessel inflammation (vasculitis), which can lead to organ damage. The kidneys, lungs, nerves, skin, and joints are the most commonly affected areas of the body. MPA is diagnosed in people of all ages, all ethnicities, and both genders. The cause of this disorder is unknown.
*[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
| Microscopic polyangiitis | c2347126 | 29,255 | gard | https://rarediseases.info.nih.gov/diseases/3652/microscopic-polyangiitis | 2021-01-18T17:59:04 | {"mesh": ["D055953"], "umls": ["C0343192"], "icd-10": ["M31.7"], "orphanet": ["727"], "synonyms": ["Microscopic polyarteritis", "Micropolyangiitis", "MPA"]} |
Spondylometaphyseal dysplasia, Golden type is a rare primary bone dysplasia disorder characterized by severe short stature, coarse facies, thoracolumbar kyphoscoliosis and enlarged joints with contractures. Psychomotor delay and intellectual disability may also be associated. Radiographic features include flat vertebral bodies, lacy ossification of the metaphyses of long bones and iliac crests, and marked sclerosis of the skull base.
*[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
| Spondylometaphyseal dysplasia, Golden type | c0796172 | 29,256 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=168544 | 2021-01-23T16:58:10 | {"gard": ["8343"], "mesh": ["C563124"], "omim": ["313420"], "umls": ["C0796172"], "icd-10": ["Q77.8"], "synonyms": ["X-linked spondylometaphyseal dysplasia"]} |
Familial progressive hyper- and hypopigmentation is a rare, genetic, skin pigmentation anomaly disorder characterized by progressive, diffuse, partly blotchy, hyperpigmented lesions that are intermixed with multiple café-au-lait spots, hypopigmented maculae and lentigines and are located on the face, neck, trunk and limbs, as well as, frequently, the palms, soles and oral mucosa. Dispigmentation pattern can range from well isolated café-au-lait/hypopigmented patches on a background of normal-appearing skin to confetti-like or mottled appearance.
*[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
| Familial progressive hyper- and hypopigmentation | c1840392 | 29,257 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=280628 | 2021-01-23T18:42:40 | {"mesh": ["C564163"], "omim": ["145250"], "umls": ["C1840392"], "icd-10": ["L81.8"], "synonyms": ["FPHH"]} |
Bronchopulmonary dysplasia is a chronic respiratory disease that results from complications related to lung injury during the treatment of infant acute respiratory distress syndrome (see these terms) in low-birth-weight premature infants or from abnormal lung development in older infants. Clinical signs are tachypnea, tachycardia and signs of respiratory distress such as intercostal recession, grunting and nasal flaring.
*[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
| Bronchopulmonary dysplasia | c0006287 | 29,258 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=70589 | 2021-01-23T18:40:34 | {"gard": ["5962"], "mesh": ["D001997"], "umls": ["C0006287"], "icd-10": ["P27.1"], "synonyms": ["BPD"]} |
Meige syndrome is a rare, neurological condition characterized by blepharospasm (abnormal movement of the eyelids); oromandibular dystonia (spasms in the jaw and tongue); and sometimes, cervical dystonia. Symptoms and severity can vary. The exact cause of Meige syndrome is unknown, but researchers suspect that it is due to a combination of genetic and environmental factors. Treatment focuses on each person's symptoms and may include drug therapy and/or botulinum A toxin (Botox) injections. Other treatment options, such as deep brain stimulation, are currently being considered.
*[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
| Meige syndrome | c0025183 | 29,259 | gard | https://rarediseases.info.nih.gov/diseases/7008/meige-syndrome | 2021-01-18T17:59:10 | {"mesh": ["D008538"], "orphanet": ["93964"], "synonyms": ["Meige's syndrome", "Oral facial dystonia", "Brueghel syndrome", "Idiopathic blepharospasm-oromandibular dystonia syndrome", "Segmental cranial dystonia", "Blepharospasm-oromandibular dystonia", "Meige dystonia", "Blepharospasm - oromandibular dystonia", "Blepharospasm-oromandibular dystonia syndrome"]} |
A number sign (#) is used with this entry because of evidence that mitochondrial complex I deficiency nuclear type 16 (MC1DN16) is caused by homozygous mutation in the NDUFAF5 gene (612360) on chromosome 20p12.
For a discussion of genetic heterogeneity of mitochondrial complex I deficiency, see 252010.
Clinical Features
Sugiana et al. (2008) reported a male infant, born of consanguineous Egyptian parents, with lethal neonatal complex I deficiency. The infant had intrauterine growth retardation, minor facial dysmorphism, unusual hair patterning, abnormal toes, and a small sacral pit. Cerebral ultrasound showed agenesis of the corpus callosum and ventricular septation. He also had a congenital left diaphragmatic hernia, adrenal insufficiency, and increased lactate in the blood and CSF. He died of cardiorespiratory arrest due to progressive lactic acidosis on day 7. Prenatal diagnosis identified 2 additional affected fetuses in subsequent pregnancies.
Gerards et al. (2010) reported 2 adult sibs, born of consanguineous Moroccan parents, who developed symptoms of complex I deficiency with Leigh syndrome (see 256000) in early childhood. The phenotype was less severe than that described by Sugiana et al. (2008). The sibs reported by Gerards et al. (2010) were aged 29 and 33 years at the time of the study, but presented with progressive spasticity at age 3, which subsequently developed into an extrapyramidal choreodystonic movement disorder. Delayed mental development also occurred, and both were moderately mentally retarded in their teens. Brain imaging of 1 patient at age 23 showed a small caudate and hyperintense lesions in the basal ganglia. Laboratory studies of 1 sib showed increased lactate in the cerebrospinal fluid, and both sibs had decreased complex I activity in skeletal muscle (36% and 48% of controls, respectively). A third affected sib died at age 36 years.
Saada et al. (2012) reported 5 children from 2 unrelated families of Ashkenazi Jewish origin with Leigh syndrome associated with deficiencies of mitochondrial complexes I and IV. The patients had typical features of complex I deficiency, with infantile-onset of feeding difficulties, failure to thrive, hypotonia, developmental delay, seizures, and abnormal signals on brain imaging.
Molecular Genetics
Sugiana et al. (2008) reported a male infant, born of consanguineous Egyptian parents, with lethal neonatal complex I deficiency due to homozygous mutation in the NDUFAF5 gene (L229P; 612360.0001).
In 2 adult sibs, born of consanguineous Moroccan parents, who developed symptoms of complex I deficiency with Leigh syndrome in early childhood, Gerards et al. (2010) identified a homozygous mutation in the NDUFAF5 gene (L159F; 612360.0002). Electrophoresis studies of patient leukocytes showed a decrease of mature complex I levels to 30 to 40% of normal controls. The clinically unaffected family members who were heterozygous for the mutation had mature complex I levels of 70 to 90% of normal controls.
In 5 children from 2 unrelated families of Ashkenazi Jewish origin with Leigh syndrome associated with deficiencies of mitochondrial complexes I and IV, Saada et al. (2012) identified a homozygous c.749G-T transversion in exon 7 of the NDUFAF5 gene, resulting in a gly250-to-val (G250V) substitution at a conserved residue. The mutations, which were found by homozygosity mapping followed by candidate gene sequencing, segregated with the disorder in the families. Haplotype analysis indicated a founder effect, and 3 heterozygous carriers were found among 869 Ashkenazi Jewish controls, yielding a carrier rate of 1:290 in this population. Transfection of wildtype NDUFAF5 into the fibroblasts of 1 patient restored complex I activity to near normal, while complex IV activity was only partially restored.
INHERITANCE \- Autosomal recessive GROWTH Other \- Intrauterine growth restriction (IUGR) \- Failure to thrive HEAD & NECK Eyes \- Nystagmus \- Ptosis \- Optic atrophy (in some patients) ABDOMEN Gastrointestinal \- Feeding difficulties MUSCLE, SOFT TISSUES \- Hypotonia NEUROLOGIC Central Nervous System \- Global developmental delay \- Impaired intellectual development \- Neurologic regression \- Spasticity \- Extrapyramidal signs \- Choreoathetosis \- Dystonic movements \- Dysarthria \- Seizures (in some patients) \- Signal abnormalities consistent with Leigh syndrome seen on brain imaging \- Agenesis of the corpus callosum (in some patients) METABOLIC FEATURES \- Lactic acidosis LABORATORY ABNORMALITIES \- Increased lactate in serum and CSF \- Mitochondrial respiratory complex I deficiency in various tissues MISCELLANEOUS \- Onset in infancy or childhood \- Early death may occur \- Highly variable phenotype and severity MOLECULAR BASIS \- Caused by mutation in the NADH-ubiquinone oxidoreductase complex assembly factor 5 gene (NDUFAF5, 612360.0001 ) ▲ 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
| MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 16 | c2936907 | 29,260 | omim | https://www.omim.org/entry/618238 | 2019-09-22T15:42:57 | {"mesh": ["C537475"], "omim": ["618238"], "orphanet": ["2609"]} |
Supravalvular aortic stenosis (SVAS) is a type of heart defect that develops before birth. It is characterized by a narrowing (stenosis) of the section of the aorta just above the valve that connects the aorta to the heart (aortic valve). The severity of SVAS varies from person to person; some individuals may die in infancy while others never experience symptoms. If symptoms develop, they may include shortness of breath, chest pain, murmur, and/or eventual heart failure. Some affected individuals also have defects in other blood vessels, such as the pulmonary artery. SVAS can be caused by mutations in the ELN gene and be inherited in an autosomal dominant manner, although some individuals that inherit the mutated gene never develop features of the condition (called reduced penetrance). SVAS can also be associated with Williams syndrome. Treatment may include surgery to repair the condition in severe 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
| Supravalvular aortic stenosis | c0003499 | 29,261 | gard | https://rarediseases.info.nih.gov/diseases/743/supravalvular-aortic-stenosis | 2021-01-18T17:57:27 | {"mesh": ["D021921"], "omim": ["185500"], "orphanet": ["3193"], "synonyms": ["SVAS", "Supravalvar aortic stenosis, Eisenberg type", "Aortic supravalvular stenosis"]} |
Pigeon-breeder's lung disease, also called bird fancier’s lung, is a hypersensitivity pneumonitis (see this term) induced by inhalation of bird derived-proteins. Presentation can be acute with chills, cough, fever, shortness of breath, chest tightness usually resolving within 24 h after cessation of antigen exposure, sub-acute with cough and dyspnea over several days to weeks, whereas chronic form results in breathlessness, coughing, lack of appetite and weight loss.
*[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
| Pigeon-breeder lung disease | c0031903 | 29,262 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=99908 | 2021-01-23T18:50:30 | {"mesh": ["D001716"], "omim": ["145300"], "umls": ["C0031903"], "icd-10": ["J67.2"], "synonyms": ["Bird fancier lung"]} |
## Summary
### Clinical characteristics.
Nijmegen breakage syndrome (NBS) is characterized by progressive microcephaly, intrauterine growth retardation and short stature, recurrent sinopulmonary infections, an increased risk for cancer, and premature ovarian failure in females. Developmental milestones are attained at the usual time during the first year; however, borderline delays in development and hyperactivity may be observed in early childhood. Intellectual abilities tend to decline over time and most children tested after age seven years have mild to moderate intellectual disability. Recurrent pneumonia and bronchitis may result in respiratory failure and early death. Approximately 40% of affected individuals have developed malignancies before age 20 years, with the risk being highest for T-cell (55%) and B-cell lymphomas (45%). Other tumors include solid tumors (e.g., medulloblastoma, glioma, and rhabdomyosarcoma). Note, however, that much of what is reported about NBS is based on individuals who are homozygous for the single most common Eastern European pathogenic variant, c.657_661del5.
### Diagnosis/testing.
The diagnosis of NBS is established in a proband with the clinical findings listed above who has biallelic pathogenic variants in NBN on molecular genetic testing and/or absent nibrin protein on immunoblotting assay.
### Management.
Treatment of manifestations: Vitamin E and folic acid supplementation; use of IVIg in individuals with severe humoral immunodeficiency and frequent infections; standard chemotherapy protocols for lymphoid malignancies (adopted to individual tolerance); consideration of hematopoietic stem cell transplantation; hormone replacement therapy for females who have hypergonadotropic hypogonadism.
Surveillance:
* For affected individuals: Periodic follow up to monitor developmental progress, physical growth and infection frequency; in those with weight loss, assessment for malignancy should be considered; lifelong monitoring of immune biomarkers; careful monitoring by an oncologist; monitoring for pubertal progression in both sexes and premature ovarian insufficiency in females; breast self-examination and ultrasonographic evaluation.
* For carriers (heterozygotes): Parents should be monitored for malignancy, particularly breast cancer in women and prostate cancer in men.
Agents/circumstances to avoid: Because the cells from individuals with NBS are radiosensitive in vitro, doses of radiation used in radiotherapy need to be reduced. Unnecessary exposure to imaging studies that use ionizing radiation (plain radiograph, CT scan) should be avoided and use of MRI and/or ultrasound considered.
Evaluation of relatives at risk: Molecular genetic testing for the NBN pathogenic variants identified in the proband should be offered to apparently asymptomatic sibs of a proband and young adult relatives at risk of being carriers (heterozygotes) in order to identify as early as possible those who would benefit from monitoring for malignancy and to inform treatment options if a malignancy is diagnosed.
### Genetic counseling.
NBS is inherited in an autosomal recessive manner. At conception, each sib of an affected individual has a 25% chance of being affected, a 50% chance of being an asymptomatic carrier, and a 25% chance of being unaffected and not a carrier. Carrier testing for at-risk family members and prenatal testing are possible if both of the pathogenic variants have been identified in an affected family member.
## Diagnosis
### Suggestive Findings
Nijmegen breakage syndrome (NBS) should be suspected in individuals with the following clinical and supportive laboratory findings.
Clinical features
* Disproportionate microcephaly that is progressive
* Craniofacial features that include a sloping forehead, upward slanted palpebral fissures, prominent nose, relatively large ears, and retrognathia
* Growth retardation that is more pronounced from birth until the age of three years, with mild improvement thereafter
* Recurrent infections including pneumonia, bronchitis, sinusitis, otitis media, and mastoiditis
* Malignancies, predominantly of lymphoid origin
* Decline in intellectual ability, from normal or borderline-normal during early childhood to moderate intellectual disability in older individuals
Supportive laboratory findings
* Immunodeficiency involving the humoral and cellular systems [Gregorek et al 2002, Michałkiewicz et al 2003, Wolska-Kuśnierz et al 2015]:
* Severe hypogammaglobulinemia has been found in 20%-24% of affected individuals and IgA deficiency in 50%-57%.
* Deficiencies of IgG2 and IgG4 are frequent even when the IgG serum concentration is normal.
* The most commonly reported defects in cellular immunity include reduced absolute numbers of total B cells, CD3+ T cells, and CD4+ cells; observed in 80%-89% of affected individuals.
* An increased frequency of T cells with a memory phenotype (CD45RO+) and a concomitant decrease in naïve T cells (CD45RA+) has been reported.
* The in vitro proliferation of T and B lymphocytes to antigen and/or mitogenic stimuli is greatly reduced in most affected individuals.
* Chromosome instability
* Inversions and translocations involving chromosomes 7 and 14 are observed in PHA-stimulated lymphocytes in 10%-50% of metaphases.
* The breakpoints most commonly involved are 7p13, 7q35, 14q11, and 14q32, which are the loci for immunoglobulin and T cell-receptor genes.
* Radiation sensitivity. Cells from individuals with NBS have a decrease in colony-forming ability following exposure to ionizing radiation and radiomimetics in vitro.
Note: This test requires that a lymphoblastoid cell line be established. Because this process is more commonly performed in a research lab than in a clinical lab, the test may not be widely available clinically.
### Establishing the Diagnosis
The diagnosis of NBS is established in a proband with the clinical features above who has biallelic pathogenic variants in NBN on molecular genetic testing (see Table 1) and/or absent nibrin protein on an immunoblotting assay (see Immunoblotting; below Table 1).
Molecular genetic testing approaches can include single-gene testing and use of a multigene panel.
Single-gene testing
* Targeted analysis for the pathogenic variant c.657_661del5 can be performed first. The c.657_661del5 pathogenic variant is detected in:
* ~100% of alleles in individuals of Slavic (Poland, Czech Republic, Ukraine) ancestry;
* ~70% of alleles in individuals of North American ancestry.
* If the common allele is not present in a homozygous form, sequence analysis of NBN can be pursued.
A multigene panel that includes NBN 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.
### Table 1.
Molecular Genetic Testing Used in Nijmegen Breakage Syndrome
View in own window
Gene 1MethodProportion of Probands with Pathogenic Variants 2 Detectable by Method
NBNTargeted analysis for c.657_661del5 variant 370%-100% 4
Sequence analysis 5~100%
Gene-targeted deletion/duplication analysis 6None reported 7
Unknown 8NA
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\.
Methods that may be used to detect the c.657_661del5 pathogenic variant can include: allele-specific PCR, sequence analysis, and genotyping assays designed to this variant. Note that these assays may not detect variants other than the targeted variant.
4\.
Nearly all affected individuals from Poland, the Czech Republic, and Ukraine tested to date are homozygous for the common pathogenic variant c.657_661del5. In a study of eight unrelated individuals with NBS from the Russian population, Resnick et al [2002] found that all but one of the 16 alleles were c.657_661del5. In the US, about 70% of individuals tested to date are homozygous for the common allele, 15% are heterozygous for c.657_661del5 and a second unique pathogenic variant, and 15% are homozygous for a unique pathogenic variant. In the US patient population, almost all affected individuals who have the c.657_661del5 pathogenic variant are of known Eastern European ancestry.
5\.
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.
6\.
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.
7\.
No deletions or duplications involving this gene have been reported to cause NBS.
8\.
NBN is the only gene associated with NBS; however, because NBS is clinically similar to other disorders (see Differential Diagnosis), many individuals referred for diagnostic testing for NBS based on clinical findings and radiosensitivity lack identified pathogenic variants in NBN [Author, unpublished observation]. Presently, distinction can only be made by excluding pathogenic variants in NBN.
Immunoblotting can be used to determine if the nibrin protein is present or absent.
Note: This test requires that a lymphoblastoid cell line be established. Because this process is more commonly performed in a research lab than in a clinical lab, the test may not be widely available clinically.
## Clinical Characteristics
### Clinical Description
Growth. Children with Nijmegen breakage syndrome (NBS) generally are born with weight below normal for gestational age and microcephaly (i.e., head circumference >2 SD below the mean for age and gender). Microcephaly progresses with age – in contrast to linear growth, which may improve with age, causing disproportionate head dimensions compared to the rest of the body. Microcephaly is occasionally masked by hydrocephaly or developmental abnormalities of the brain [Szczałuba 2012].
Growth failure in the early stages of life results in length/height that is usually below the third centile by age two years. Thereafter, linear growth velocity tends to normalize, however many individuals remain shorter than peers (i.e., affected individuals do not experience catch-up growth). Some adults, both females and males, can achieve height within lower normal ranges [Chrzanowska et al 2012].
Craniofacial features. The craniofacial features discussed in Suggestive Findings are found in the majority of affected individuals and become more pronounced with age as microcephaly progresses.
Infections. Respiratory infections are the most common. Recurrent pneumonia and bronchitis may result in bronchiectasis, and even in pulmonary failure and early death. Chronic diarrhea and urinary tract infections may also occur.
Malignancy. According to Chrzanowska et al [2012], 40% of affected individuals reported to date have developed malignancies before age 20 years. Malignancies are primarily lymphomas [Gładkowska-Dura et al 2008, Wolska-Kuśnierz et al 2015]. Approximately 45% of lymphomas are of B cell origin and 55% are T cell lymphomas. Several children have developed solid tumors, including medulloblastomas, glioma, and rhabdomyosarcoma [Hiel et al 2001, Bakhshi et al 2003, Distel et al 2003, Meyer et al 2004].
Psychomotor and intellectual development. Developmental milestones are attained at the usual time during the first year. Normal or borderline intellectual development and psychomotor hyperactivity may be observed in early childhood/pre-school age. Intellectual abilities tend to decline from mild to moderate intellectual disability during childhood. Affected children are described as having a cheerful, shy personality with good interpersonal skills.
Fertility. Two reports of gonadal dysfunction in affected females with chromosome instability disorder / syndrome appeared in 1986 [Maraschio et al 1986]. Twenty years later, Varon et al [2006] identified biallelic pathogenic c.741_742dup variants in exon 7 of NBN one of the original women reported by Maraschio and colleagues [1986].
Chrzanowska et al [2000] originally presented observations that strongly suggested an increased risk of premature ovarian failure in women with NBS. Results of a longitudinal study demonstrated that hypergonadotropic hypogonadism was present in a large cohort of affected females, all of whom were homozygous for the common c.657_661del5 pathogenic variant [Chrzanowska et al 2010a].
No detailed studies of fertility in males with NBS have been published; however, puberty initiation and progress are comparable to healthy boys [Chrzanowska et al 2010b]. Warcoin et al [2009] described two adult siblings, a male with oligo-terato-asthenozoospermia and a female with premature ovarian failure, who had biallelic truncating variants in NBN but none of the other clinical features of NBS.
Other findings
* Irregular skin pigmentation in the form of irregular hyperpigmented or hypopigmented macules is seen in most affected individuals. In some affected individuals, progressive sarcoid-like granulomas are observed [Yoo et al 2008, Pasic et al 2012].
* Congenital malformations, usually observed in single cases, include anomalies of the central nervous system (e.g., hydrocephaly, schizencephaly, arachnoid cysts), choanal atresia, cleft lip and palate, tracheal hypoplasia, preaxial or postaxial polydactyly, horseshoe kidney, hydronephrosis, hypospadias, anal stenosis/atresia, and congenital hip dysplasia.
Heterozygotes. Heterozygotes are asymptomatic, however, there is clear evidence of increased cancer occurrence among heterozygous relatives of individuals with NBS in the Czech Republic [Seemanová et al 2007]. Furthermore, an increased frequency of the pathogenic c.657_661del5 variant in NBN has been observed in several different cancers including breast cancer, prostate cancer, medulloblastoma, and melanoma, suggesting that pathogenic variants in NBN might play a role in the etiology of these types of cancer [Cybulski et al 2004, Steffen et al 2004, Ciara et al 2010].
### Genotype-Phenotype Correlations
The common pathogenic variant, c.657_661del5, and most other loss-of-function variants result in a classic presentation. However, exceptions have been reported. There are two reports of families in which biallelic truncating variants in NBN occur in individuals with milder features:
* Varon et al [2006] described a 53-year-old woman who was homozygous for the NBN truncating allele c.741_742dupGG. This affected woman had a somewhat milder phenotype including microcephaly, chromosome instability, immunodeficiency, and primary amenorrhea. Her sister, with similar clinical manifestations died at 20 years of malignant lymphoma [Maraschio et al 1986]. However, analysis of transcripts from the affected individual’s cells indicated a highly prevalent alternatively spliced form of NBN lacking exons 6 and 7 (where the pathogenic variant is located). This transcript produces a 73-kd form of NBN with an internal deletion.
* Warcoin et al [2009] described a family in which two healthy adult sibs, a sister and a brother, had biallelic truncating variants in NBN (p.Tyr110Ter and p.Trp375Ter). Both were normal on clinical examination and did not have any evidence of short stature, reduced head circumference, or facial dysmorphic features; however, both were referred for fertility defects and were subsequently found to have the cellular phenotypes typical of NBS including chromosome instability, hypersensitivity to ionizing radiation, and impaired checkpoint responses.
### Nomenclature
The Nijmegen breakage syndrome was described by Weemaes et al [1981].
Three Czech families with Seemanová syndrome [Seemanová et al 1985] were later identified as having NBS.
Genetic complementation studies are no longer of clinical importance. The report of Jaspers et al [1988] noted a strong similarity between NBS cells and ataxia-telangiectasia (A-T) cells; however, they also described the NBS cells as genetically distinct from A-T, grouping individuals with either Nijmegen breakage syndrome or Czech breakage syndrome into A-T variant group V1 and Germans with "Berlin breakage syndrome" [Wegner et al 1999] into A-T variant group V2 [Jaspers et al 1988]. Subsequently, NBN pathogenic variants were found in all individuals studied from the A-T variant groups V1 and V2, indicating that these individuals had NBS, not ataxia-telangiectasia.
### Prevalence
No reliable estimates of world-wide prevalence exist, but it is likely to approximate 1:100,000 live births.
NBS is most common in Eastern European/Slavic populations. Studies in Poland, the Czech Republic, and the Ukraine have suggested that the carrier frequency of the common allele approaches 1:155 in these populations. The highest reported prevalence is in Sorbians, a Slavic population isolate from southeastern Germany, in whom the carrier frequency is estimated at 1:34 [Maurer et al 2010].
## Differential Diagnosis
Microcephaly, growth delay, immunodeficiency, and/or bone marrow failure are common manifestations of several inherited disorders, mainly related to defective sensing, processing, and repair of double-strand DNA breaks. Recurrent infections, poor growth, and immunodeficiency can be observed in other inherited immunodeficiencies. See Table 2.
The early growth failure in Nijmegen breakage syndrome (NBS) may suggest other disorders of growth, such as thyroid hormone or growth hormone deficiency, or primary disorders of bone growth (i.e., skeletal dysplasias).
Because malignancy may be the presenting finding in NBS, the diagnosis of NBS should be considered before radiotherapy is initiated in individuals with microcephaly who have solid tumors and are younger than age three years [Bakhshi et al 2003, Distel et al 2003, Meyer et al 2004].
### Table 2.
Disorders to Consider in the Differential Diagnosis of Nijmegen Breakage Syndrome
View in own window
Disease NameGene(s)Immunodeficiency and/or
Bone Marrow FailureMicrocephaly /
Craniofacial FeaturesGrowth DelayCellular SensitivityChromosome InstabilityCancer PredispositionOther
Nijmegen breakage syndromeNBNImmunodeficiency, combined; recurrent sinopulmonary infectionsProgressive disproportionate microcephaly 1; characteristic facial features 2Mild growth restrictionDecrease in colony-forming ability after exposure to ionizing radiation & radiomimeticsInversions & translocations involving chromosomes 7 & 14 in lymphocytesIncreased risk, mainly of lymphoid originPrimary ovarian failure; mild-to-moderate intellectual disability
LIG4 syndrome 3
OMIM 606593LIG4Immunodeficiency combined; pancytopenia & myelodysplastic syndromeMicrocephaly; facial features resembling NBS 2Short statureSevere radiosensitivityIncreased chromosome breakage ratePredisposition to malignancy (mainly lymphoma & leukemia)High intrafamilial clinical variability
NHEJ1 syndrome
OMIM 611291NHEJ1Mild immunodeficiency to severe combined immunodeficiencyMicrocephalySevere (typically) growth restrictionCellular sensitivity to ionizing radiationHigh chromosome breakage rate (w/out chromosome 7;14 rearrangements) 4Limited data; unknown
Short stature, microcephaly, and endocrine dysfunction 5
OMIM 616541XRCC4 6No clinical manifestations of immunodeficiencyPrimary microcephalySevere growth restrictionPronounced cellular radiosensitivityNot reportedSolid tumorPrimary ovarian failure; early-onset metabolic syndrome
Nijmegen breakage syndrome-like disorder
(RAD50 deficiency) 7, 8
OMIM 613078RAD50No immunodeficiencyMicrocephaly; facial features resembling NBS 2Severe growth restrictionX-ray hypersensitivityChromosome instability (incl. 7;14 rearrangements) in lymphocytes & fibroblastsLimited data; unknownNormal puberty; disturbed sensorimotor coordination; intellectual disability
Fanconi anemia 918 genes 10Progressive bone marrow failure (pancytopenia); myelodysplastic syndromeMicrocephaly (1/3 of individuals)Growth restrictionCellular sensitivity to ionizing radiation & DNA cross-linking agents 11Chromosome breakage induced by mitomycin C & diepoxybutaneMyeloblastic leukemia; solid tumorsLimited fertility
Ataxia-telangiectasiaATM (A-TFresno) 12No increased risk of infectionsMicrocephalyGrowth restrictionHypersensitivity to ionizing radiationChromosome instability (incl. 7;14 rearrangements) in lymphocytesLeukemia; Hodgkin & non-Hodgkin lymphomaScleral telangiectasia; progressive truncal ataxia; intellectual disability
Seckel syndrome 13
OMIM PS210600See footnote 14PancytopeniaSevere microcephalySevere growth restrictionNot typically radiosensitive by colony survival assay 13Increased sister chromatid exchangeLimited data, possible myelodyplasiaIntellectual disability
Rubinstein-Taybi syndromeCREBBP
EP300Recurrent infections; defect in polysaccharide antibody responseMicrocephaly; distinctive facial featuresMild growth restriction; short statureNo cellular sensitivityNot presentLeukemia; tumors that affect the headIntellectual disability
1\.
Seeman et al [2004] suggest that NBN pathogenic variants account for a significant number of children with primary microcephaly in the Czech Republic.
2\.
Facial features characteristic of Nijmegen breakage syndrome are: a sloping forehead, retrognathia, prominent nasal bridge and nose, large ears, and upslanted palpebral fissures.
3\.
O'Driscoll et al [2001], Ben-Omran et al [2005], Altmann & Gennery [2016]
4\.
Dutrannoy et al [2010]
5\.
Murray et al [2015], Rosin et al [2015]
6\.
XRCC4 is another component of the non-homologous end joining (NHEJ) pathway.
7\.
As only one individual with RAD50 pathogenic variants has been described, it is unclear how consistent the clinical features of RAD50 deficiency appear to overlap with NBS.
8\.
Barbi et al [1991], Waltes et al [2009]
9\.
Overlap of some clinical features and cellular sensitivity to ionizing radiation and DNA cross-linking agents could lead to misdiagnosis of NBS as Fanconi anemia [Gennery et al 2004, New et al 2005].
10\.
Fanconi anemia is associated with mutation of BRCA2, BRIP1, ERCC4, FANCA, FANCB, FANCC, FANCD2, FANCE, FANCF, FANCG, FANCI, FANCL, FANCM, PALB2, RAD51, RAD51C, SLX4, or UBE2T.
11\.
Increased sensitivity of lymphocytes to alkylating agents like mitomycin C and/or diepoxybutane is the cellular marker of Fanconi anemia and is used as a diagnostic aid.
12\.
Occasionally individuals with the ATM pathogenic variant A-TFresno have symptoms of both Nijmegen breakage syndrome and ataxia-telangiectasia (A-T) [Curry et al 1989, Gilad et al 1998].
13\.
O'Driscoll et al [2003]
14\.
OMIM PS210600
## Management
### Evaluations Following Initial Diagnosis
To establish the extent of disease and needs in an individual diagnosed with Nijmegen breakage syndrome (NBS), the following evaluations are recommended (if they were not performed as part of the diagnostic evaluation):
* Assessment of growth
* Evaluation of immunologic status to include:
* Complete blood count;
* Absolute number of B-cells, T-cells, and T-cell subsets, with special attention to naïve CD4+CD45RA cells;
* Proliferative response of peripheral blood mononuclear cells to stimuli;
* Concentration of total serum immunoglobulins (IgG, IgA, IgM) and IgG subclasses;
* Evaluation for viruses with lymphotrotropic capacity (i.e., EBV and CMV).
* Evaluation for malignancy, including a focused family history of other individuals with cancer
* Evaluation of the endocrinologic status in females who are of pubertal age to include pelvic ultrasound to evaluate for streak gonads and plasma levels of FSH, LH, and estrogen [Chrzanowska et al 2010a]
* Assessment of cognitive development and intellectual abilities
* Consultation with a clinical geneticist and/or genetic counselor
### Treatment of Manifestations
Nutrition. Because of chromosome instability, vitamin E and folic acid supplementation in doses appropriate for body weight is recommended.
Infections. In individuals with severe humoral immunodeficiency and frequent infections, Ig replacement therapy should be considered.
* Ig replacement is typically administered either intravenously (IVIg) or subcutaneously (SCIg).
* The spectrum of recurrent infections in NBS is not opportunistic; therefore, the antibiotic selected should be appropriate for the microorganism being treated.
Malignancy. Standard treatment chemotherapy protocols for lymphoid malignancies in NBS need to be adopted according to individual tolerance [Dembowska-Baginska et al 2009, Pastorczak et al 2016]. Treatment of affected individuals with solid tumors is also challenging. Radiotherapy of CNS tumors (medulloblastoma) caused severe complications and death in three individuals with NBS [Chrzanowska et al 1997, Bakhshi et al 2003, Distel et al 2003].
* Although complete clinical remission (for >5 years) can be successfully achieved, in a proportion of affected individuals outcome is complicated by relapse or the development of a second malignancy [Dembowska-Baginska et al 2009, Bienemann et al 2011].
* For individuals who achieve first remission, hematopoietic stem cell transplantation (HSCT) may be considered:
* The first successful bone marrow transplantation was performed in an individual with NBS who was initially misdiagnosed with Fanconi anemia (FA) [Gennery et al 2004, Gennery et al 2005].
* Wolska-Kuśnierz et al [2015] summarized the results of HSCT in 14 individuals with NBS, nine of whom were alive [Gennery et al 2005, New et al 2005, Albert et al 2010].
* Woźniak et al [2015] reported the successful use of non-myeloablative umbilical cord transplantation in a child age 19 months with NBS and severe combined immune deficiency.
* Further long-term follow up is needed to determine the outcome of HSCT in individuals with NBS.
Puberty and fertility. Females with NBS who are of pubertal age should be referred for evaluation by a gynecologist and/or endocrinologist to evaluate for hypergonadotropic hypogonadism.
* Hormonal replacement therapy should be considered with careful monitoring of secondary sexual characteristics and uterus development.
* Females are infertile; similarly, no male paternity has been reported.
### Surveillance
Affected individuals
* Periodic follow-up to monitor developmental progress, physical growth (including weight, length/height, and head circumference) and frequency of infections; monitoring for weight loss, which may signal the presence of a malignancy
* Lifelong monitoring of immune biomarkers to include the parameters listed in Evaluations Following Initial Diagnosis
* Careful follow up by oncologist: in individuals with NBS who are immunodeficient symptoms of lymphoid malignancies can be misleading.
* Monitoring for pubertal progression in both females and males and for premature ovarian insufficiency in females [Chrzanowska et al 2010b]
* Breast self-examination and ultrasonographic evaluation recommended in affected females
Carriers (heterozygotes)
* Parents. As obligate carriers, parents should be monitored for malignancy, in particular breast cancer in women and prostate cancer in men. No consensus tumor screening protocols for carriers have been published.
* At-risk sibs. Evidence of cancer risk in young carriers is insufficient to warrant screening in childhood.
### Agents/Circumstances to Avoid
Because the cells from individuals with NBS are as radiosensitive in vitro as those from individuals with ataxia-telangiectasia (another chromosome instability syndrome), conventional doses of radiation used in radiotherapy could be lethal in individuals with NBS. Family members should be made aware of this risk so that they can discuss appropriate treatment options if a malignancy is diagnosed.
Similarly, unnecessary exposure to ionizing radiation should be avoided; instead of radiograph or CT scan, MR imaging and ultrasound examination are strongly recommended.
### Evaluation of Relatives at Risk
It is appropriate to offer molecular genetic testing for the NBN pathogenic variants identified in the proband to apparently asymptomatic sibs of a proband and young adult relatives at risk of being carriers (heterozygotes) in order to identify as early as possible those who would benefit from monitoring for malignancy (see Surveillance) and to inform treatment options if a malignancy is diagnosed (see Agents/Circumstances to Avoid).
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
| Nijmegen Breakage Syndrome | c0398791 | 29,263 | gene_reviews | https://www.ncbi.nlm.nih.gov/books/NBK1176/ | 2021-01-18T21:07:50 | {"mesh": ["D049932"], "synonyms": []} |
A rare genetic multi-system disorder characterized by a wide range of muscle-related manifestations (muscle weakness, myotonia, early onset cataracts (before age 50) and systemic manifestations (cerebral, endocrine, cardiac, gastrointestinal tract, uterus, skin and immunologic involvement) that vary depending on the age of onset. The very wide clinical spectrum ranges from lethal presentations in infancy to mild, late-onset disease.
## Epidemiology
It is the most frequent adult muscular dystrophy and has an estimated prevalence ranging from 1/215,000 in Taiwan to 1/5,500 in Croatia. It appears to be more prevalent in the Saguenay-Lac-St-Jean region-Quebec, Canada (1/600), suggesting a founder effect. The disease occurs worldwide.
## Clinical description
The age of onset is highly variable, from prenatal to adulthood. The clinical manifestations also cover a wide range and may differ within and between affected families. Five forms are currently recognized: congenital, early childhood, juvenile, adult-onset and late-onset. Congenital disease (15% of cases) is the most severe form and includes severe generalized weakness at birth with respiratory distress, hypotonia, and feeding difficulty. Patients subsequently develop delayed cognitive and motor milestones intellectual disability, and autism spectrum. The course may be fatal in congenital cases (30-40%). In childhood onset cases (with the age of onset between 1 and 10 years of age), the main clinical manifestations involve muscle weakness (including both proximal and distal muscle group, facial weakness, respiratory and gastrointestinal complications such as respiratory distress, aspiration, dysphagia, constipation and speech disturbances), myotonia, sleep breathing disorders, recurrent infections, cognitive impairment, psychiatric disorders (phobia, depression, anxiety, attention deficit-hyperactivity). The juvenile form with the age of onset between 11 and 20 years of age, is characterized by scholar and behavioral problems and is often under recognized. The classic adult form (75% of cases), which develops between 20 and 40 years of age, is characterized by progressive distal muscle weakness, pain, myotonia and multiorgan involvement (irritable bowel disease, conduction and other cardiac disorders, cataracts, ophthalmoplegia, diabetes mellitus, hypogonadism, hypotestosteronism, and thyroid dysfunction). Intellectual deficit is also present in adult cases. Balding may occur in affected males and females and infertility may be present. Late-onset disease after 40 years of age involves mild myotonia and weakness, daytime sleepiness, and cataracts. A higher cancer risk has been reported in affected patients.
## Etiology
The disease is due to abnormal CTG expansion in the non-translating region of the DMPKgene (19q13.3). Disease severity generally correlates with the number of DNA repeats. More than 2000 CTG repeats may be found. The expansion is unstable, which may explain the clinical variability.
## Diagnostic methods
Diagnosis is suspected on the characteristic clinical manifestations and a consistent family history, and confirmed by molecular genetic testing of the causative gene expansion. Muscle biopsy is not anymore necessary for the diagnosis and is has been replaced by genetic testing, which represents the gold standard.
## Differential diagnosis
There are several overlapping features with myotonic dystrophy type 2; however, the diseases are distinct genetically and have different courses and management requirements.
## Antenatal diagnosis
Early-onset cases may be identified prenatally with polyhydramnios and reduced fetal movements.
## Genetic counseling
The pattern of inheritance is autosomal dominant. Genetic counselling should be provided to affected families. Whilst there is a 50% risk of disease transmission from an affected parent to their offspring, the disease shows variable penetrance.
## Management and treatment
No specific targeted treatment is currently available. Management primarily includes monitoring for complications and supportive care (assistive devices, hormone therapy, pain medication).
## Prognosis
Some cases are severe and may have an impact on life expectancy, particularly early-onset cases caused by massive gene expansions. The prognosis in adult-onset cases is mainly dependent on the severity of cardiac manifestations. Causes of death include respiratory failure, cardiovascular disease, arrhythmia, and neoplasms.
*[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
| Steinert myotonic dystrophy | c3250443 | 29,264 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=273 | 2021-01-23T17:58:49 | {"gard": ["8310"], "mesh": ["C538008"], "omim": ["160900"], "umls": ["C2931688"], "icd-10": ["G71.1"], "synonyms": ["DM1", "MD1", "Myotonic dystrophy type 1", "Steinert disease"]} |
Alexander's law refers to spontaneous nystagmus that occurs after an acute unilateral vestibular loss. It was first described in 1912 and has three elements to explain how the vestibulo-ocular reflex responds to an acute vestibular insult. The first element says that spontaneous nystagmus after an acute vestibular impairment has the fast phase directed toward the healthy ear. The direction of the nystagmus, by convention, is named for the fast phase, so the spontaneous nystagmus is directed toward the healthy ear. The second element says nystagmus is greatest when gaze is directed toward the healthy ear, is attenuated at central gaze and may be absent when gaze is directed toward the impaired ear. The third element says that spontaneous nystagmus with central gaze is augmented when vision is denied. This became apparent with the implementation of electrographic testing.
Alexander's law states that in individuals with nystagmus, the amplitude of the nystagmus increases when the eye moves in the direction of the fast phase (saccade). It is manifested during spontaneous nystagmus in a patient with a vestibular lesion. The nystagmus becomes more intense when the patient looks in the quick-phase than in the slow-phase direction.
The law was named after Gustav Alexander who described it in 1912.[1][2]
## References[edit]
1. ^ Jeffcoat B, Shelukhin A, Fong A, Mustain W, Zhou W (July 2008). "Alexander's Law revisited". J. Neurophysiol. 100 (1): 154–9. doi:10.1152/jn.00055.2008. PMID 18450584. Retrieved 2009-04-21.
2. ^ Jacobson GP et al. Alexander's law revisited. J Am Acad Audiol 19:630-638 (2008)
* v
* t
* e
Symptoms and signs relating to the eye
Adnexa
* lacrimal: Schirmer's test
* eyelid: Abadie's sign of exophthalmic goiter
* Boston's sign
* Dalrymple's sign
* Stellwag's sign
Globe
* pupil: Argyll Robertson pupils
* Adie pupil
* Marcus Gunn pupil
* cornea: Fleischer ring
* Kayser–Fleischer ring
* Hudson–Stahli line
* iris: Brushfield spots
* Lisch nodule
* conjunctiva: Bitot's spots
* Arlt's line
* retina: Hollenhorst plaque
* Roth's spot
* Fuchs spot
* others: Alexander's law
* Hirschberg test
* Siegrist streaks
This medical sign 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
| Alexander's law | None | 29,265 | wikipedia | https://en.wikipedia.org/wiki/Alexander%27s_law | 2021-01-18T18:59:38 | {"wikidata": ["Q4718107"]} |
A number sign (#) is used with this entry because of evidence that X-linked myopathy with excessive autophagy (MEAX) is caused by mutation in the VMA21 gene (300913) on chromosome Xq28.
Description
X-linked myopathy with excessive autophagy (XMEA) is an X-linked recessive skeletal muscle disorder characterized by childhood onset of progressive muscle weakness and atrophy primarily affecting the proximal muscles. While onset is usually in childhood, it can range from infancy to adulthood. Many patients lose ambulation and become wheelchair-bound. Other organ systems, including the heart, are clinically unaffected. Muscle biopsy shows intracytoplasmic autophagic vacuoles with sarcolemmal features and a multilayered basal membrane (summary by Ramachandran et al., 2013; Kurashige et al., 2013, and Ruggieri et al., 2015).
Danon disease (300257), caused by mutation in the LAMP2 gene (309060) on chromosome Xq24, is a distinct disorder with similar pathologic features.
Clinical Features
Saviranta et al. (1988) and Kalimo et al. (1988) reported an unusual hereditary myopathy in 5 members of a Finnish family in a pedigree pattern consistent with X-linked recessive inheritance. The clinical course was mild; the patients suffered from slowly progressive muscle weakness mainly in the legs, but did not lose their ability to walk. There was no evidence of cardiac or neural involvement. Serum creatine kinase was elevated. By electron microscopy, an excessive number of autophagic vacuoles with staining properties of lysosomes were observed. The granular and membranous material contained in these vacuoles was actively exocytosed. The authors suggested that this disorder differed from the muscular dystrophy of Duchenne (310200) and Becker (300376) and of Emery-Dreifuss (310300) as well as from X-linked myotubular myopathy (310400).
Villanova et al. (1995) reported a family in which 4 males and their maternal grandfather were affected with a juvenile-onset, slowly progressive proximal vacuolar myopathy. Inheritance was consistent with X-linked recessive.
Minassian et al. (2002) reported 7 families with XMEA. Most had childhood onset of proximal lower limb muscle weakness characterized by difficulty climbing stairs and running. After the second decade, upper limb proximal muscle weakness and distal limb muscle weakness was often observed. The disorder was slowly progressive and some patients were wheelchair-dependent by the sixth decade.
Yan et al. (2005) reported a Chinese American family in which 2 male sibs had a severe congenital form of XMEA. The proband was a 7-year-old boy with congenital hypotonia, neonatal hypoventilation requiring mechanical ventilation, and poor suckling requiring nasogastric feeding until 2.5 years of age. He had delayed motor milestones, progressive generalized muscle weakness involving facial and neck muscles, increased serum creatine kinase, and a high-arched palate. Mentation was normal. In addition, he had incomplete cardiac right bundle branch block and left ventricular hypertrophy. His older brother had a similar phenotype but without cardiac involvement. Family history showed that 3 maternal uncles and 2 maternal granduncles died in infancy with a similar phenotype. No female relatives had clinical signs of myopathy. Skeletal muscle biopsy from the proband showed endomysial fibrosis and intracytoplasmic vacuoles with acid phosphatase activity and sarcolemmal deposition of the complement membrane attack complex and calcium, consistent with autophagic lysosomes. Electron microscopic analysis showed accumulation of electron dense granules within the vacuoles, suggesting abnormal protein degradation.
Ramachandran et al. (2013) reported 45 individuals with XMEA from 14 families. All patients were males with childhood-onset progressive weakness and wasting of skeletal muscle. Proximal muscles of the lower extremities were always initially and later predominantly affected. No other organ system was affected clinically. At least 1 patient from each family underwent a biopsy, and all biopsies showed the pathognomonic features of XMEA, including no inflammation, necrosis, or apoptosis. These patients had been previously reported in a paper retracted from the journal Cell in 2009.
Kurashige et al. (2013) reported a 52-year-old Japanese man with XMEA. After normal early development, he presented with difficulty running at age 6 years. The muscle weakness was progressive over his life, but he remained ambulatory and had normal cardiac and respiratory function. Laboratory studies showed increased serum creatine kinase and increased urinary beta-2-microglobulin (B2M; 109700) with normal serum B2M. Two deceased maternal uncles with a similar disorder also had increased urinary B2M, which was not found in nonaffected family members. Kurashige et al. (2013) postulated that the increased urinary B2M in these patients could be due to less urinary acidification in the distal convoluted tubules caused by decreased V-ATPase, and may be a useful preliminary marker for the disorder.
Ruggieri et al. (2015) reported 2 unrelated patients with early-onset XMEA. Both presented at birth with hypotonia, lethargy, and poor feeding, and showed delayed motor development in early childhood. Laboratory studies showed increased serum creatine kinase; 1 patient also had elevated liver enzymes. At age 14 years, 1 patient was able to walk, but had Gowers sign and severe proximal lower and upper limb weakness and muscle hypotrophy. At age 21 years, the second patient was wheelchair-bound with severe muscle atrophy and kyphoscoliosis. Both patients also showed limited extraocular movements.
Mercier et al. (2015) reported 4 patients from 2 unrelated families with XMEA confirmed by genetic analysis. In addition to early-onset progressive limb-girdle muscle weakness and atrophy and characteristic autophagic vacuoles on muscle biopsy, 3 adult patients had proximal and distal joint contractures of the upper and lower limbs. None had cardiac involvement. Whole-body muscle MRI showed that pelvic girdle and proximal thighs were the most and earliest affected regions, with sparing of rectus femoris muscles. Muscle changes essentially consisted of degenerative fatty replacement.
### Clinical Variability
Crockett et al. (2014) reported a patient with XMEA confirmed by genetic analysis (300913.0004) who reported slowly progressive proximal muscle weakness of the lower limbs beginning at approximately age 55 years. He remained physically active throughout mid-adulthood and was ambulatory with assistance at age 71. He had no contractures, cardiac involvement, or myalgia. Muscle biopsy showed a vacuolar pathology, endomysial fibrosis, fatty infiltration, and atrophic fibers. Crockett et al. (2014) emphasized the late onset and relatively mild phenotype in this patient, which expanded the clinical variability associated with the disorder.
Inheritance
The transmission pattern of XMEA in the families reported by Ramachandran et al. (2013) was consistent with X-linked recessive inheritance.
Mapping
Saviranta et al. (1988) presented linkage information excluding the mutation in their family with myopathy from the Duchenne-Becker muscular dystrophy locus (see 300377). Several other loci on the short and long arms of the X chromosome likewise showed negative lod scores, whereas a probe defining locus DXS15, located on Xq28, showed no recombinants and a lod score of 0.903 at theta = 0.0.
Using 32 polymorphic markers spanning the entire X chromosome, Villard et al. (2000) excluded linkage to most of the chromosome except the Xq28 region in a large XMEA family. Using 3 additional families for linkage analysis, they obtained a 2-point lod score with marker DXS1183 on Xq28; maximum lod = 2.69 at theta = 0.0. Multipoint linkage analysis confirmed the assignment of the disease locus with a maximum lod score of 2.74 obtained at recombination fraction zero. Villard et al. (2000) excluded allelism with Emery-Dreifuss muscular dystrophy by direct sequencing of the emerin gene (300384) in 3 of the families.
By linkage and haplotype analysis of 9 affected families, Minassian et al. (2002) localized the MEAX locus telomeric to DXS10053. Because the pseudoautosomal region (PAR) could be excluded, the MEAX region was refined to a 4.37-Mb area between DXS10053 and DXS1108. Minassian et al. (2002) failed to identify mutations in several candidate genes from the region.
By linkage and haplotype analysis, Yan et al. (2005) obtained evidence suggestive of linkage to Xq28 (multipoint lod score of 0.46 between markers DXS8069 and DXS1073), although the results were not significant due to the small family size.
Munteanu et al. (2008) recruited additional members of the large American family with XMEA previously reported by Minassian et al. (2002). Fine-mapping and haplotype analysis of the large American family and 2 French families, which were distantly related to each other and were previously reported by Villanova et al. (1995) and Minassian et al. (2002), refined the disease locus to a 0.58-Mb region between rs1149374 and BV106355.
Molecular Genetics
In 45 male patients from 14 families with XMEA, Ramachandran et al. (2013) identified 6 different hemizygous single-nucleotide substitutions in the VMA21 gene (300913.0001-300913.0006). Four of these were intronic; 1 occurred in coding sequence but abolished a predicted splice enhancer site; and 1 occurred after the termination codon in the 3-prime UTR. Ramachandran et al. (2013) found that cells from patients with XMEA had elevated lysosomal pH and a resultant partial block in the common final degradative stage of autophagy. Quantitative RT-PCR from patient fibroblasts and lymphoblasts revealed 32 to 58% reduction in VMA21 mRNA, including in patients with the 3-prime UTR mutation. Western blot analysis and immunohistochemistry showed that VMA21 protein was also reduced, and V-ATPase activity was reduced to 10 to 30% of normal values. Transfection experiments with mutant and wildtype minigenes showed greater than 40% decrease in mRNA from the variant minigenes compared to wildtype. Patient cells also showed a compensatory increase in macroautophagy, partially through inhibition of the mTOR pathway (see 601231) via reduced levels of cellular free amino acids. Restoration of VMA21 levels in cells with silenced VMA21 restored the normal morphology. The patients had previously been reported in a paper retracted from Cell in 2009 (Ramachandran et al., 2009).
In a 52-year-old Japanese man with XMEA, Kurashige et al. (2013) identified a hemizygous intronic mutation in the VMA21 gene (300913.0004).
In 2 brothers with XMEA originally reported by Yan et al. (2005), Munteanu et al. (2015) identified a hemizygous intronic mutation in the VMA21 gene (300913.0007). Patient cells showed decreased VMA21 mRNA (22 to 25% of normal controls) and significantly decreased V-ATPase activity (13% of controls).
In 2 unrelated patients with XMEA, Ruggieri et al. (2015) identified 2 different intragenic deletions in the VMA21 gene occurring in the 3-prime untranslated region and in intron 1, respectively (300913.0008 and 300913.0009). Ruggieri et al. (2015) noted that the molecular diagnosis of XMEA would be missed in the majority of patients if genetic testing were limited to cDNA sequencing, and stressed the importance of including noncoding regions of the VMA21 gene in genetic testing panels of muscular dystrophies and myopathies.
Pathogenesis
Ramachandran et al. (2013) noted that XMEA presents an unusual mechanism of disease, in which a major housekeeping complex (the V-ATPase) essential to numerous functions of all cells is impaired, but only to the extent of clinically affecting the function with the highest V-ATPase dependence (autophagy), in a tissue with high reliance on this function (skeletal muscle). Whereas pathologic analysis of skeletal muscle shows no inflammation, necrosis, or apoptosis, myofiber demise occurs through a novel form of autophagic cell death characterized by giant autophagic vacuoles 2 to 10 microns in size encircling sections of cytoplasm, including organelles. These vacuoles contain lysosomal hydrolases, yet are unable to complete digestion of their contents. Instead, they migrate to the myofiber surface, fuse with the sarcolemma, and extrude their contents extracellularly, forming a field of cell debris around the fiber.
INHERITANCE \- X-linked recessive HEAD & NECK Eyes \- Limited extraocular movements (in some patients) CARDIOVASCULAR Heart \- No cardiac involvement (in most patients) \- Cardiac hypertrophy, mild (in some patients) RESPIRATORY \- Respiratory insufficiency (in some patients) SKELETAL \- Joint contractures (in some patients) Spine \- Scoliosis (in some patients) MUSCLE, SOFT TISSUES \- Muscle weakness, proximal, lower limbs \- Hypotonia, neonatal (in some patients) \- Gower sign \- Difficulty climbing stairs \- Difficulty running \- Upper limb involvement and distal muscle involvement may occur later in disease course (often by second decade) \- By fourth decade, many patients need help with ambulation \- Muscle atrophy appears later in disease course \- Some patients become wheelchair-dependent \- Myotonic discharges in the absence of clinical myotonia seen on EMG \- Sarcoplasmic or subsarcolemmal vacuoles in muscle fibers seen on muscle biopsy \- Vacuoles are autophagocytic and contain granular and membranous cellular debris \- Vacuoles appear to be exocytosing material at the cell surface \- Deposition of complement proteins C5b-9 of the membrane attack complex on muscle fibers \- Increased perisarcolemmal calcium deposition \- Vacuolated muscle fibers show reduplication of the basement membrane \- No muscle fiber necrosis \- Normal alpha-glucosidase or acid maltase activity (GAA, 606800 ) NEUROLOGIC Central Nervous System \- Delayed motor development (in some patients) \- No mental retardation LABORATORY ABNORMALITIES \- Increased serum creatine kinase \- Increased urinary beta-2-microglobulin (1 family) MISCELLANEOUS \- Onset usually in early childhood (but can range from infancy to adulthood) \- Slowly progressive \- Incomplete penetrance, some individuals have only EMG changes without other clinical signs MOLECULAR BASIS \- Caused by mutation in the homolog of the S. cerevisiae VMA21 gene (VMA21, 300913.0001 ) ▲ 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
| MYOPATHY, X-LINKED, WITH EXCESSIVE AUTOPHAGY | c1839615 | 29,266 | omim | https://www.omim.org/entry/310440 | 2019-09-22T16:17:56 | {"doid": ["0050760"], "mesh": ["C564093"], "omim": ["310440"], "orphanet": ["25980"], "synonyms": ["Alternative titles", "XMEA"]} |
A number sign (#) is used with this entry because of evidence that autosomal dominant intellectual developmental disorder-60 with seizures (MRD60) is caused by heterozygous mutation in the AP2M1 gene (601024) on chromosome 3q27.
Description
Autosomal dominant intellectual developmental disorder-60 with seizures is characterized by global developmental delay apparent in infancy, followed by onset of seizures in the first years of life. Patients have delayed walking, an ataxic gait, and moderately to severely impaired intellectual development with poor speech (summary by Helbig et al., 2019).
Clinical Features
Helbig et al. (2019) reported 4 unrelated girls, ranging in age from 4 to 15 years, with a similar neurodevelopmental disorder associated with seizures. The patients presented in infancy with global developmental delay, mildly delayed walking between 2 and 4 years of age, and impaired intellectual development with poor speech acquisition. IQ testing of 2 patients ranged from 35 to 50, and all patients had behavioral abnormalities, often with autistic features. All patients also had onset of seizures between 15 months and 4 years. Seizure types included absence, atonic, myoclonic, and generalized, and EEG showed poor background organization and generalized or multifocal spike-wave discharges. Partial seizure control was finally achieved in 3 patients, with decreased seizure frequency in the older patients, but epilepsy remained refractory in the fourth. There was no developmental regression associated with seizure onset. Other neurologic features included hypotonia and gait ataxia. Brain imaging was unremarkable.
Molecular Genetics
In 4 unrelated girls with MRD60, Helbig et al. (2019) identified a recurrent de novo heterozygous missense mutation in the AP2M1 gene (R170W; 601024.0001). The mutation in the first 2 patients was found by whole-exome sequencing of 314 individuals with a similar phenotype; the 2 other patients were subsequently identified by whole-exome sequencing of 2,310 individuals with a similar phenotype. Presence of the mutation was confirmed by Sanger sequencing, and the variant was not found in the ExAC or gnomAD databases. Molecular modeling suggested that the mutation caused increased entropy in both the open and closed conformations of the AP2 complex, consistent with thermodynamic instability. In vitro functional expression studies in AP2M1-null HeLa cells and Ap2m1-null mouse astrocytes showed that the R170W variant caused reduced endocytosis compared to wildtype AP2M1, suggesting that the mutation adversely affects clathrin-mediated endocytosis, possibly by impaired recognition of cargo membrane proteins. The mutant protein was expressed at normal levels and localized properly to clathrin-coated pits. Helbig et al. (2019) noted that the AP2 complex mediates endocytic sorting of both presynaptic vesicle proteins and postsynaptic ion channels, and postulated that defective endocytic sorting of certain cargo membrane proteins and/or receptors in neurons may disrupt normal synaptic transmission.
*[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
| INTELLECTUAL DEVELOPMENTAL DISORDER 60 WITH SEIZURES | None | 29,267 | omim | https://www.omim.org/entry/618587 | 2019-09-22T15:41:23 | {"omim": ["618587"], "synonyms": ["Alternative titles", "MENTAL RETARDATION, AUTOSOMAL DOMINANT 60, WITH SEIZURES"]} |
Schindler disease is an inherited condition that primarily causes neurological problems. There are three types of Schindler disease. Schindler disease type 1, also called the infantile type, is the most severe form. Babies with this condition appear healthy a birth, but by the age of 8 to 15 months they stop developing new skills and begin losing skills they had already acquired. As the condition progresses, affected individuals develop blindness and seizures, and eventually lose awareness of their surroundings and become unresponsive. People with this form of the condition usually don't survive past early childhood. Schindler disease type 1 is caused by mutations in the NAGA gene. The condition follows an autosomal recessive pattern of inheritance.
*[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
| Schindler disease type 1 | c1836544 | 29,268 | gard | https://rarediseases.info.nih.gov/diseases/116/schindler-disease-type-1 | 2021-01-18T17:57:49 | {"mesh": ["C536631"], "omim": ["609241"], "umls": ["C1836544"], "orphanet": ["79279"], "synonyms": ["Neuroaxonal dystrophy, Schindler type", "Alpha-N-acetylgalactosaminidase deficiency, type 1", "NAGA deficiency, type 1", "Schindler disease type I"]} |
## Summary
### Clinical characteristics.
Infantile-onset spinocerebellar ataxia (IOSCA) is a severe, progressive neurodegenerative disorder characterized by normal development until age one year, followed by onset of ataxia, muscle hypotonia, loss of deep-tendon reflexes, and athetosis. Ophthalmoplegia and sensorineural deafness develop by age seven years. By adolescence, affected individuals are profoundly deaf and no longer ambulatory; sensory axonal neuropathy, optic atrophy, autonomic nervous system dysfunction, and hypergonadotropic hypogonadism in females become evident. Epilepsy can develop into a serious and often fatal encephalopathy: myoclonic jerks or focal clonic seizures that progress to epilepsia partialis continua followed by status epilepticus with loss of consciousness.
### Diagnosis/testing.
The diagnosis of IOSCA is established in a proband with typical clinical findings and identification of biallelic pathogenic variants in TWNK by molecular genetic testing.
### Management.
Treatment of manifestations: Hearing loss, sensory axonal neuropathy, ataxia, psychotic behavior, and severe depression are treated in the usual manner. Conventional antiepileptic drugs (phenytoin and phenobarbital) are ineffective in most affected individuals.
Surveillance: Small children: neurologic, audiologic, and ophthalmologic evaluations every six to 12 months; neurophysiologic studies when indicated; brain MRI every three to five years. Adolescents and adults: neurologic examination yearly; audiologic and ophthalmologic examinations every one to two years; EEG and brain MRI at least during status epilepticus.
Agents/circumstances to avoid: Valproate, which can cause significant elevation of serum concentration of bilirubin and liver enzymes.
### Genetic counseling.
IOSCA is inherited in an autosomal recessive manner. At conception, each sib of an affected individual has a 25% chance of being affected, a 50% chance of being an asymptomatic carrier, and a 25% chance of being unaffected and not a carrier. Carrier testing for at-risk relatives and prenatal testing for a pregnancy at increased risk are possible if the pathogenic variants in the family are known.
## Diagnosis
Infantile-onset spinocerebellar ataxia (IOSCA) is a clinical spectrum that was originally described in individuals of Finnish descent; however, the phenotype has been expanded by the identification of affected individuals of non-Finnish descent whose features may deviate from the originally described "classic" phenotype
Clinical diagnostic criteria for IOSCA were published by Koskinen et al [1994a] and Koskinen et al [1994b].
### Suggestive Findings
Infantile-onset spinocerebellar ataxia (IOSCA) should be suspected in individuals with the following clinical features and supportive laboratory findings.
Clinical features. After normal early development, children with IOSCA typically display the following clinical features, often in successive order (although the time and order of presentation of clinical symptoms can vary in those who are not of Finnish ancestry) starting in the second year of life:
* Spinocerebellar ataxia
* Muscle hypotonia
* Athetoid movements
* Loss of deep-tendon reflexes
* Hearing deficit
* Ophthalmoplegia
* Optic atrophy
* Primary hypergonadotropic hypogonadism in females
* Epileptic encephalopathy
Supportive laboratory findings
* Normal routine laboratory and metabolic screening tests
* Normal muscle morphology and respiratory chain enzyme analyses
* Absence of mitochondrial DNA (mtDNA) deletion and/or depletion in muscle; however:
* A few affected individuals had mtDNA depletion in the liver [Hakonen et al 2007, Sarzi et al 2007].
* Postmortem material has revealed complex I deficiency and mtDNA depletion in the brain [Hakonen et al 2008].
Note: Muscle biopsy with histology and respiratory chain enzyme analysis are not required for the diagnosis of IOSCA.
### Establishing the Diagnosis
The diagnosis of IOSCA is established in a proband with typical clinical findings and the identification of biallelic pathogenic variants in TWNK by molecular genetic testing (see Table 1).
Molecular genetic testing approaches can include single-gene testing, use of a multigene panel, and more comprehensive genomic testing.
Single-gene testing
* Targeted analysis for the founder pathogenic c.1523A>G variant in exon 3 can be performed first in individuals of Finnish ancestry [Nikali et al 2005].
Note: All individuals with the IOSCA founder variant in TWNK have been identified in the genetically isolated population of Finland only, where IOSCA is the second-most common inherited ataxia [Nikali et al 2005]. Other TWNK variants have been described in affected individuals of English [Hartley et al 2012], Pakistani [Prasad et al 2013], Indian [Faruq et al 2014], and northern European descent [Pierce et al 2016].
* In those who are not of known Finnish ancestry or in whom targeted testing for the Finnish founder variant identifies one or no pathogenic variant, sequence analysis of TWNK may be performed.
A multigene panel that includes TWNK 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 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, mitochondrial sequencing, and genome sequencing may be considered. Such testing 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).
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 Infantile-Onset Spinocerebellar Ataxia
View in own window
Gene 1MethodProportion of Probands with Pathogenic Variants 2 Detectable by Method
TWNKSequence analysis 3100% 4, 5
Gene-targeted deletion/duplication analysis 6None reported 7
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\.
In the exon / flanking intron regions sequenced; pathogenic variants in non-sequenced intron and regulatory regions are not detected.
5\.
Sequence analysis detects the Finnish founder variant and others, including c.1287C>T and c.952G>A, which have been detected in the compound heterozygous state with c.1523A>G (see Molecular Genetics).
6\.
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.
7\.
Gene-targeted deletion/duplication analysis has not identified any deletions/duplications.
## Clinical Characteristics
### Clinical Description
Infantile-onset spinocerebellar ataxia (IOSCA) was originally described in individuals of Finnish descent who had biallelic pathogenic founder variants in TWINK. Individuals with this genotype were described as having the classic features on which clinical diagnostic criteria are based. However, affected individuals from multiple ethnicities who have pathogenic variants in TWINK that are different from the original founder variant have now been described. Clinical features in these individuals have expanded the phenotype of IOSCA. These affected individuals are sometimes referred to as having "atypical IOSCA." However, IOSCA represents a continuum in which the clinical differences between affected individuals are due to the underlying pathogenic variants in TWINK (see Genotype-Phenotype Correlations).
Classic infantile-onset spinocerebellar ataxia (IOSCA) is a severe, progressive neurodegenerative disorder [Koskinen et al 1994b]. Affected children are born after an uneventful pregnancy and develop normally until age one year, when the first clinical symptoms of ataxia, muscle hypotonia, loss of deep-tendon reflexes, and athetosis appear. Ophthalmoplegia and sensorineural deafness develop by school age (age 7 years). By adolescence sensory axonal neuropathy, optic atrophy, and hypergonadotropic hypogonadism in females become evident. Migraine, psychiatric symptoms, and epilepsy are late manifestations.
By adolescence affected individuals are no longer ambulatory, being dependent on either a walker or wheelchair. The hearing deficit is severe (>100 dB) and communication relies on sign language. Progressive pes cavus foot deformity and neurogenic scoliosis are common, as well as autonomic nervous system dysfunction, which manifests as increased perspiration, difficulty with urination and/or urinary incontinence, and obstipation.
The supratentorial brain (i.e., cerebral cortex, cerebral white matter, basal ganglia, and other deep brain nuclei) is well preserved until the onset of epilepsy. In 15 children, epilepsy developed into a serious encephalopathy, beginning at ages two and four years in those who were compound heterozygotes for the Finnish founder variant and another pathogenic variant, and between ages 15 and 34 years (mean age 24 years) in homozygotes for the Finnish founder variant. The seizures were myoclonic jerks or focal clonic seizures that progressed to epilepsia partialis continua and further to status epilepticus with loss of consciousness and tonic-clonic seizures. Death of nine of these 15 individuals was directly or indirectly related to epilepsy. The oldest individual (without epilepsy) who is homozygous for the Finnish founder variant is alive at age 50 years.
Atypical IOSCA. The clinical course is more rapid and severe in individuals with certain genotypes (see Genotype-Phenotype Correlations) and is characterized by severe early-onset encephalopathy and signs of liver involvement. The clinical manifestations include hypotonia, athetosis, sensory neuropathy, ataxia, hearing deficit, ophthalmoplegia, intractable epilepsy, and elevation of serum transaminases. The liver may show mtDNA depletion, whereas the muscle mtDNA is only slightly affected.
Neuroimaging. The supratentorial findings of cortical edema and later cortical and central atrophy appear at the time of and after the onset of epilepsy. The cortical edema is of a nonvascular distribution. The area of swollen cortex varied from multiple small lesions to the involvement of the whole hemisphere, thalamus, and caudate nucleus. In diffusion-weighted imaging (DWI), the lesions showed restricted diffusion, thus behaving like early ischemic changes. Some of these lesions were reversible, but a T1-weighted hyperintense cortical signal compatible with cortical laminar necrosis developed in individuals with recurrent status epilepticus. Supratentorial cortical and central atrophy was seen in all individuals with intractable status epilepticus, but not in children or adults without refractory epilepsy. Epileptic encephalopathy in IOSCA is similar to that seen in other mitochondrial disorders, including MELAS.
Spinocerebellar degeneration progresses gradually with increasing age. Serial brain MRI imaging reveals cerebellar, cortical, and brain stem atrophy with increased signal intensity in the cerebellar white matter on T2-weighted images [Koskinen et al 1995b].
Neuropathology. Postmortem studies show moderate brain stem and cerebellar atrophy and severe atrophic changes in the dorsal roots, posterior columns, and posterior spinocerebellar tracts of the spinal cord [Koskinen et al 1994a, Lönnqvist et al 1998].
### Genotype-Phenotype Correlations
Classic IOSCA. Within and between families, individuals with IOSCA who are homozygous for the c.1523A>G founder variant show similar early-onset symptoms and clinical course, except for the onset of epilepsy [Koskinen et al 1994b].
Atypical IOSCA. Individuals who are not homozygous for the pathogenic Finnish founder variant may have signs and symptoms that develop and progress differently from the "classic" clinical course described above. For example:
* Individuals who are compound heterozygotes for c.[1523A>G];[952G>A] or homozygotes for c.1370C>T have very early onset of symptoms and a rapidly progressive disease course that may include hepatic involvement (see Clinical Description, Atypical IOSCA).
* Prasad et al [2013] identified biallelic pathogenic c.1183T>C variants in three deceased sibs of a consanguineous Pakistani family. The affected sibs presented with cholestatic liver disease, hypotonia, severe failure to thrive, recurrent vomiting, renal tubulopathy, and a progressive neurodegenerative course. Unusual clinical features in these individuals included renal tubulopathy as well as the lack of epileptic encephalopathy.
### Nomenclature
IOSCA was originally known as OHAHA (ophthalmoplegia, hypoacusis, ataxia, hypotonia, athetosis) syndrome [Kallio & Jauhiainen 1985].
### Prevalence
The carrier frequency of the c.1523A>G founder variant varies between 0.44% (1:230) in all of Finland and 2.0%-2.4% (1:50-1:40) in selected sub-isolates in Ostrobothnia and Savo.
## Differential Diagnosis
Differential diagnosis for infantile-onset spinocerebellar ataxia (IOSCA) should include all early-onset cerebellar ataxias with sensory axonal neuropathy and epileptic encephalopathy.
The spinocerebellar degeneration in IOSCA is similar to that in Friedreich ataxia and other mitochondrial disorders with axonal neuropathy.
POLG-related disorders. POLG, a nuclear gene that encodes mitochondrial DNA polymerase subunit gamma-1, is a functional partner of twinkle in the mtDNA replication fork [Hakonen et al 2007]. This close biologic relationship explains the phenotypic overlap of the disorders caused by TWNK pathogenic variants and those caused by POLG pathogenic variants. Of note, disorders caused by POLG pathogenic variants are more common than disorders caused by TWNK pathogenic variants.
The syndromes associated with biallelic POLG pathogenic variants range from an infantile hepatoencephalopathy (Alpers-Huttenlocher syndrome) to ataxia neuropathy spectrum (ANS) disorders.
* Early encephalopathy, sensory axonal neuropathy, epilepsy, and signs of hepatopathy with mtDNA depletion in the liver are seen in individuals with POLG-associated Alpers-Huttenlocher syndrome [Hakonen et al 2007, Sarzi et al 2007].
* While IOSCA and ANS share clinical features, spinocerebellar degeneration starts earlier and progresses faster in IOSCA than in ANS [Koskinen et al 1994a, Lönnqvist et al 1998, Hakonen et al 2007, Hakonen et al 2008].
Ataxia-telangiectasia (A-T) is characterized by progressive cerebellar ataxia beginning between ages one and four years, oculomotor apraxia, frequent infections, choreoathetosis, telangiectasias of the conjunctivae, immunodeficiency, and an increased risk for malignancy, particularly leukemia and lymphoma. Individuals with A-T are unusually sensitive to ionizing radiation.
Diagnosis of A-T relies on clinical findings including slurred speech, truncal ataxia, and oculomotor apraxia; family history; and neuroimaging. Testing that supports the diagnosis includes serum alphafetoprotein concentration (elevated in >95% of individuals with A-T), identification of a 7;14 chromosome translocation on routine karyotype of peripheral blood, the presence of immunodeficiency, and in vitro radiosensitivity assay. A-T is caused by biallelic pathogenic variants in ATM.
IOSCA is distinguished from A-T by: normal chromosome studies, normal immune function, loss of deep-tendon reflexes, early ophthalmoplegia, deafness, and absence of telangiectasias.
## Management
### Evaluations Following Initial Diagnosis
To establish the extent of disease and needs in an individual diagnosed with infantile-onset spinocerebellar ataxia (IOSCA), the following are recommended (if not already been completed as part of the evaluation that led to the diagnosis):
* Neurologic examination to evaluate the grade of ataxia and neuropathy
* Audiologic examination to evaluate the degree of hearing loss and need for hearing aids
* Ophthalmologic examination to evaluate the grade of ophthalmoparesis and optic atrophy
* Neurophysiologic examinations
* ENMG (electroneuromyography)
* SEP (somatosensory evoked potentials). Note: Changes in SEP occur early in the disease course and correlate with sensory system involvement.
* VEP (visual evoked potentials)
* Brain MRI
* Consultation with a clinical geneticist and/or genetic counselor
### Treatment of Manifestations
Treatment is symptomatic:
* Deafness. Hearing aids, speech therapy, and sign language to support social adaptation and prevent educational problems in children with IOSCA. Computers may be a valuable aid in support of communication and learning (see Hereditary Hearing Loss and Deafness Overview).
* Sensory axonal neuropathy. Physiotherapy and orthoses to prevent foot and spine deformity; supportive shoes, splints, and braces; orthopedic surgery for foot deformities (pes cavus) and spine deformities (scoliosis); foot care to treat calluses and ulcerations
* Ataxia. A walker, wheelchair, physiotherapy, occupational therapy
* Epilepsy. Conventional antiepileptic drugs (phenytoin and phenobarbital) are ineffective in most affected individuals [Lönnqvist et al 2009].
* Some affected individuals have benefited from lamotrigine, levetiracetam, topiramate, or lacosamide.
* Benzodiazepines, especially midazolam infusion, when started early in status epilepticus, were occasionally effective.
* Oxcarbazepine has some effect, but hyponatremia is a troublesome side effect.
* Psychiatric symptoms. Antipsychotics (neurolepts, risperidone, olanzpine) to prevent psychotic behavior and antidepressants (SSRIs) for severe depression
### Surveillance
Small children
* Neurologic, audiologic, and ophthalmologic evaluation every six to 12 months
* Neurophysiologic studies when clinically indicated
* Brain MRI every three to five years
Adolescents and adults
* Neurologic examination annually
* Audiologic and ophthalmologic examinations every one to two years
* EEG and brain MRI at least during status epilepticus
### Agents/Circumstances to Avoid
Valproate is contraindicated in those with IOSCA, as it is in other disorders that potentially affect mitochondrial function in liver. Valproate caused significant elevation of liver enzymes (alanine aminotransferase: 232 units/L [normal: 10-35 U/L]; gamma-GT: 160 U/L [normal: 5-50 U/L]) and icterus with elevated bilirubin levels (total: 224 μmol/L [normal: 5-25 μmol/L]; conjugated: 160 μmol/L [normal:1-8 μmol/L]) in one affected individual, and similar elevation of liver transaminases in another. When valproate was discontinued, icterus resolved and liver enzymes normalized.
### 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. 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
| Infantile-Onset Spinocerebellar Ataxia | c1849096 | 29,269 | gene_reviews | https://www.ncbi.nlm.nih.gov/books/NBK3795/ | 2021-01-18T21:17:49 | {"mesh": ["C535523"], "synonyms": ["IOSCA", "Mitochondrial DNA Depletion Syndrome 7"]} |
A number sign (#) is used with this entry because congenital disorder of glycosylation type Ia (CDG Ia, CDG1A) is caused by homozygous or compound heterozygous mutation in the gene encoding phosphomannomutase-2 (PMM2; 601785) on chromosome 16p13.
Description
Congenital disorders of glycosylation (CDGs) are a genetically heterogeneous group of autosomal recessive disorders caused by enzymatic defects in the synthesis and processing of asparagine (N)-linked glycans or oligosaccharides on glycoproteins. These glycoconjugates play critical roles in metabolism, cell recognition and adhesion, cell migration, protease resistance, host defense, and antigenicity, among others. CDGs are divided into 2 main groups: type I CDGs comprise defects in the assembly of the dolichol lipid-linked oligosaccharide (LLO) chain and its transfer to the nascent protein, whereas type II CDGs (see, e.g., CDG2A, 212066) refer to defects in the trimming and processing of the protein-bound glycans either late in the endoplasmic reticulum or the Golgi compartments. CDG1A is the most common form of CDG and was the first to be characterized at the molecular level (reviews by Marquardt and Denecke, 2003; Grunewald et al., 2002).
Matthijs et al. (1997) noted that Jaeken syndrome (CDG1A) is a genetic multisystem disorder characterized by defective glycosylation of glycoconjugates. It usually presents as a severe disorder in the neonatal period. There is a severe encephalopathy with axial hypotonia, abnormal eye movement, and pronounced psychomotor retardation, as well as peripheral neuropathy, cerebellar hypoplasia, and retinitis pigmentosa. Patients show a peculiar distribution of subcutaneous fat, nipple retraction, and hypogonadism. There is a 20% lethality in the first year of life due to severe infections, liver insufficiency, or cardiomyopathy.
Marques-da-Silva et al. (2017) noted that CDG1A is the most prevalent form of CDG, with more than 700 patients reported worldwide.
### Genetic Heterogeneity of Congenital Disorder of Glycosylation Type I
Multiple forms of CDG type I have been identified; see CDG1B (602579) through CDG1Y (300934), CDG1AA (617082) and CDG1BB (see 613861).
A congenital disorder of deglycosylation (CDDG; 615273), formerly designated CDG1V, is caused by mutation in the NGLY1 gene (610661).
A disorder formerly designated CDG1Z was classified as a form of early infantile epileptic encephalopathy (EIEE50; 616457).
Clinical Features
CDG type Ia was first described in an abstract by Jaeken et al. (1980). In a complete report, Jaeken et al. (1984) described Belgian identical twin sisters with a disorder characterized by psychomotor retardation suggestive of a demyelinating disease and multiple serum glycoprotein abnormalities. Serum and CSF transferrin (TF; 190000) were found to be deficient in sialic acid.
Jaeken et al. (1987) described 4 girls, including the monozygotic twins described earlier, from 3 unrelated families who had a neurologic syndrome characterized by severe psychomotor retardation with generalized hypotonia, hyporeflexia, and trunk ataxia. Growth was retarded, but 2 were moderately obese. All 4 had almond-shaped eyes and alternating internal strabismus. Two had fusiform phalanges of the fingers, prominent labia majora, and symmetric fat accumulations as well as lipodystrophy of the buttocks, which seemed to disappear with age. Biochemical analysis and isoelectric focusing showed a decrease of several serum glycoproteins, and total serum glycoproteins were deficient in sialic acid, galactose, and N-acetylglucosamine. Serum activity of N-acetylglucosaminyltransferase was reduced to 37% of normal, but Jaeken et al. (1987) suggested that since a mixture of isoenzymes from various sources was being measured, the 37% reduction might represent a more profound deficiency of 1 isoenzyme. Among the parents, only the fathers showed some biochemical abnormalities: partial thyroxine-binding globulin (TBG; 314200) deficiency, hypocholesterolemia, and a 10% deficiency of sialic acid, galactose, and N-acetylglucosamine in total serum glycoproteins. Jaeken et al. (1987) thus initially considered that the affected girls might be homozygous for a mutant gene coding for an N-acetylglucosaminyltransferase, possibly on the X chromosome.
Jaeken and Stibler (1989) described the disorder as a neurologic syndrome with cerebellar hypoplasia and peripheral demyelination associated with abnormalities of multiple secretory glycoproteins. All serum glycoproteins were reported as partially deficient in sialic acid, galactose, and N-acetylglucosamine, suggesting a deficiency of N-acetylglucosaminyltransferase.
Kristiansson et al. (1989) reported 7 Swedish children with what the authors termed 'disialotransferrin developmental deficiency syndrome.' There were 3 pairs of sibs and 1 sporadic case. All 7 patients had mental retardation, were prone to acute cerebral dysfunction during catabolic states, and developed abnormal lower neuron, cerebellar, and retinal functions in later childhood. They had a characteristic external appearance with decreased subcutaneous tissue. Biochemical studies showed abnormal sialic acid transferrin patterns in serum and CSF.
Buist and Powell (1991) reported 2 sisters, aged 14 and 16 years, whom they had followed for 13 years. Both presented in infancy with developmental delay, hypotonia, wandering eye movements, strabismus, and failure to thrive. One child had pseudolipomas over each gluteus medius and the other had similar fatty tissue causing enlarged labia majora. The characteristic fat pads disappeared in childhood. Isoelectric focusing of transferrin showed marked decrease of the tetrasialo fraction and increase in the di- and asialo fractions. The findings suggested a generalized defect in sialylation of serum glycoproteins.
Eeg-Olofsson and Wahlstrom (1991) reported that 20 Swedish patients with the carbohydrate-deficient glycoprotein syndrome came from 13 families, all from the southern part of the country. The oldest patient with CDG was a woman born in 1942, and the youngest, a girl born in 1988. Eight Swedish families had 2 sibs with CDG. Two concordantly affected monozygotic twin-pairs were known. In 20 CDG families, if correction was made for the ascertainment bias by exclusion of the index patient in each family, the number of affected sibs and healthy sibs agreed satisfactorily with the recessive hypothesis.
Harrison et al. (1992) studied a 24-month-old girl whose clinical findings of hypotonia, delayed development, cerebellar hypoplasia, and metabolic crises were consistent with the clinical diagnosis of CDG. They also studied a brother and sister, aged 21 and 19 years, respectively, with this disorder. High-resolution 2-dimensional polyacrylamide gel electrophoresis (2DE) and silver staining yielded a potentially pathognomonic profile of multiple serum protein anomalies in CDG. Both parents had normal serum protein 2DE patterns.
Petersen et al. (1993) reported on the first 5 of 8 patients with CDG diagnosed in Denmark from 1989 until the end of 1991. Three were male and 2 were a pair of male-female twins. All 5 children were seen during their first year of life with failure to thrive, feeding difficulties, psychomotor retardation, hypotonia, esotropia, inverted nipples, lipodystrophy, pericardial effusion, and hepatic dysfunction. Steatosis was observed in liver biopsy specimens, and cerebellar hypoplasia was present on computed tomography.
Ohno et al. (1992) described 3 affected Japanese children from 2 families. The clinical picture was that of a multisystem disorder characterized by mental retardation, nonprogressive ataxia, polyneuropathy, hepatopathy during infancy, and growth retardation. Studies of serum transferrin by isoelectric focusing demonstrated increases in disialotransferrin and asialotransferrin. Removal of sialic acid with neuraminidase demonstrated the same transferrin phenotypes as in the parents. Similarly, carbohydrate-deficient fractions of serum alpha-1-antitrypsin (PI; 107400) were detected.
Harrison (1993) identified 9 patients with CDG, including 1 from a nonconsanguineous Puerto Rican family and another from a nonconsanguineous Chinese family.
In a review, Hagberg et al. (1993) stated that CDG I had been diagnosed in 45 Scandinavian patients and presented different clinical phenotypic features of the syndrome according to period of life. During infancy, internal organ symptoms predominate and some may be life-threatening. In later childhood and adolescence, static mental deficiency, cerebellar ataxia, slowly progressive lower limb neuropathy, pigmentary retinal degeneration, and secondary skeletal deformities are the most prominent findings. Hagberg et al. (1993) summarized the features of CDG IIa and compared them with those of CDG I.
Drouin-Garraud et al. (2001) also noted that clinical findings of CDG Ia tend to change with age. During infancy, patients present with severe neurologic involvement with hypotonia, failure to thrive, roving eye movements, and developmental delay. There is often cerebellar and brainstem atrophy as well as hepatic and cardiac manifestations. Children with CDG Ia have a relatively static clinical course, with ataxia as the predominant sign. Musculoskeletal complications, such as kyphoscoliosis and muscular atrophy, appear in late childhood. Adults commonly manifest endocrine dysfunctions, such as hypogonadism and insulin resistance.
De Lonlay et al. (2001) reported the clinical, biologic, and molecular analysis of 26 patients with CDG I including 20 CDG Ia, 2 CDG Ib, 1 CDG Ic, and 3 CDG Ix patients detected by Western blotting and isoelectric focusing of serum transferrin. Based on clinical features, de Lonlay et al. (2001) concluded that CDG Ia could be split into 2 subtypes: a neurologic form with psychomotor retardation, strabismus, cerebellar hypoplasia, and retinitis pigmentosa, and a multivisceral form with neurologic and extraneurologic manifestations including liver, cardiac, renal, or gastrointestinal involvement. Inverted nipples, cerebellar hypoplasia, and abnormal subcutaneous fat distribution were not present in all cases.
Drouin-Garraud et al. (2001) identified a French family in which 3 sibs with CDG Ia displayed an unusual presentation remarkable for both the neurologic presentation and the dissociation between intermediate PMM2 activity in fibroblasts and a decreased PMM2 activity in leukocytes. Their report showed that the diagnosis of CDG Ia must be considered in patients with nonregressive early-onset encephalopathy with cerebellar atrophy, and that intermediate values of PMM2 activity in fibroblasts do not exclude the diagnosis.
Coman et al. (2008) reviewed the skeletal manifestations of congenital disorders of glycosylation, which they suggested may be underrecognized.
### Neonatal-Onset CDG Ia
The most severe form of CDG Ia has a neonatal onset. Agamanolis et al. (1986) reported 2 sibs with olivopontocerebellar degeneration, failure to thrive, hepatic fatty change and cirrhosis, and a dyslipoproteinemia characterized by low cholesterol and elevated triglycerides. Cerebellar degeneration progressed rapidly during the first year of life and both children died from intercurrent infections and surgical complications. The authors suggested a metabolic defect. Harding et al. (1988) reported a similar case of neonatal onset with biochemical abnormalities and other systemic involvement. Horslen et al. (1991) reported 2 brothers with neonatal onset of olivopontocerebellare degeneration, failure to thrive, hypotonia, liver disease, and visual inattention. Microcystic renal changes were observed at autopsy. The patients also had abnormalities in serum transferrin, and Horslen et al. (1991) concluded that the disorder was a severe manifestation of CDG.
Clayton et al. (1992) described their seventh patient with neonatal-onset CDG in whom the disorder was established by electrophoresis with immunofixation of serum transferrin, which showed a reduced amount of tetrasialotransferrin, an increased amount of disialotransferrin, and the presence of asialotransferrin. A new feature was severe hypertrophic cardiomyopathy. Respiratory distress and a murmur with episodes of arterial oxygen desaturation had brought the neonate to cardiologic assessment. After initial spontaneous improvement he presented at 9 weeks with severe manifestations of the cardiomyopathy. Chang et al. (1993) reported the case of an 8-month-old male infant who presented in the neonatal period with failure to thrive, bilateral pleural and pericardial effusions, and hepatic insufficiency and showed at autopsy olivopontocerebellar atrophy, micronodular cirrhosis, and renal tubular microcysts.
In a neonate with neurologic abnormalities and congenital nephrotic syndrome of diffuse mesangial sclerosis type, van der Knapp et al. (1996) found diagnostic evidence of CDG I. However, there was no evidence of pontocerebellar atrophy by imaging or at autopsy. They concluded that CDG I should be considered in patients with congenital nephrotic syndrome and that absence of pontocerebellar atrophy did not exclude the diagnosis.
Other Features
Stromland et al. (1990) found all 10 of the children with this syndrome who were examined had ocular involvement. Esotropia and deficient abduction was found in all 10 patients. Seven children had retinitis pigmentosa, which was verified by an ERG in 3. One patient had retinal signs suggestive of retinitis pigmentosa.
Andreasson et al. (1991) reported the findings in full-field ERGs in 5 patients with CDG. Only 2 of them showed fundus changes typical for retinitis pigmentosa, whereas abnormal ERGs were seen in all. There was no recordable rod response; however, a delay in the cone b-wave implicit time was noted. All patients had nyctalopia. The observations suggested that patients with CDG have a progressive tapetoretinal degenerative disorder of the retinitis pigmentosa type with defined alterations in the ERG.
Martinsson et al. (1994) pictured a 16-year-old patient who showed short stature, prominent jaw, mild anterior chest deformity, and muscle atrophy of the lower limbs. He was unable to stand and walk without support because of peripheral neuropathy and cerebellar ataxia.
Fiumara et al. (1994, 1996) suggested that a familial Dandy-Walker variant (220200) may occur as a feature of the CDG.
de Koning et al. (1998) observed 2 sibs with CDG and nonimmune hydrops fetalis.
Patients with CDG Ia have a thrombotic tendency, whereas a patient with CDG IIa, described by Van Geet et al. (2001), had an increased bleeding tendency. This prompted Van Geet et al. (2001) to investigate whether abnormally glycosylated platelet membrane glycoproteins are involved in the hemostatic complications of both CDG groups. Van Geet et al. (2001) observed abnormal glycosylation of platelet glycoproteins in CDG Ia causing enhanced onset of platelet interactions, leading to thrombotic tendency. Reduced GP Ib (231200)-mediated platelet reactivity with vessel wall components in the CDG IIa patient under flow conditions provided a basis for his bleeding tendency.
Bohles et al. (2001) reported a male infant who presented with persistent hyperinsulinemic hypoglycemia responding to diazoxide treatment. However, this therapy was discontinued because of seizures as a consequence of disturbed water and electrolyte balance. Glucose homeostasis could only be maintained by subtotal pancreatectomy, which was performed at 3.75 years of age. The patient subsequently developed a severe thrombosis, whereupon a congenital disorder of glycosylation was suspected. An abnormal isoelectric focusing pattern of transferring was found and a diagnosis of CDG Ia was confirmed by enzymatic and molecular genetic analysis. The patient had internal strabismus and inverted nipples with an MRI scan demonstrating hypoplasia of the cerebellar vermis and of both cerebral hemispheres. Molecular analysis identified compound heterozygosity for 2 mutations in the PMM2 gene (601785.0001; 601785.0018). Fibroblast phosphomannomutase activity was less than 5% of normal.
Silengo et al. (2003) described hair abnormalities in 3 patients with CDG type I, 1 with CDG Ia and 2 with an unclassified form of the disorder. The hair was sparse and coarse textured, lacked luster, and was slow growing. It showed enhanced fragility with the microscopic findings of trichorrhexis nodosa and pili torti. Silengo et al. (2003) postulated that the underlying cause of the hair anomaly in CDG I was an abnormality of membrane glycoprotein expression during differentiation of epidermis and adnexes.
Coman et al. (2008) described a female infant with mutation-positive CDG1A who died at 3 weeks of age due to cardiac tamponade and who had a skeletal phenotype reminiscent of a type II collagenopathy. Skeletal survey revealed short long bones with 'dumbbell' metaphyseal expansions, generalized epiphyseal ossification delay, ovoid and anteriorly beaked vertebral bodies, hypoplastic cervical vertebrae, 13 rib pairs, hypoplastic pubic bones, and bullet-shaped short tubular bones. Coman et al. (2008) stated that the radiographic skeletal appearance was consistent with a primary skeletal dysplasia, most similar to Kniest dysplasia (156550) or spondyloepiphyseal dysplasia congenita (183900). In addition, MRI of the cervical spine showed elevation of the posterior arch of C1 with the occipital bone and significant spinal canal stenosis at the craniocervical junction due to a bone spur.
Biochemical Features
The characteristic biochemical abnormality of CDG was discovered serendipitously by Stibler and Jaeken (1990) in the isoelectric focusing of serum transferrin, a test originally devised to screen for alcohol abuse in normal adults (Stibler et al., 1978). Serum transferrin from affected individuals showed a consistent increase of isotransferrins with higher isoelectric points than normal. Carbohydrate determinations in purified transferrin showed deficiencies of sialic acid, galactose, and N-acetylglucosamine. The results suggested that either 2 or all of the normally 4 terminal trisaccharides in transferrin were missing, suggesting a defect in synthesis or catabolism.
Wada et al. (1992) determined the structure of serum transferrin in CDG type I and showed that it was disialylated, missing either of 2 N-linked sugar chains, suggestive of a metabolic error in the early steps of protein glycosylation.
Because coagulation factors and inhibitors are glycoproteins, Van Geet and Jaeken (1993) performed a systematic study of these factors and inhibitors in 9 patients with CDG. All showed a decreased activity of factor XI (F11; 264900) and of the coagulation inhibitors antithrombin III (AT3; 107300) and protein C (PROC; 612283). In 5 of 7 patients older than 1 year, there was also a less pronounced decrease of protein S (PROS1; 176880) and of heparin cofactor II (HCF2; 142360). The authors suggested that this combined coagulation inhibitor deficiency may explain the stroke-like episodes occurring in children with this disorder.
Van Schaftingen and Jaeken (1995) reported that the activity of phosphomannomutase, the enzyme that converts mannose 6-phosphate to mannose 1-phosphate, was markedly deficient (10% or less of control activity) in fibroblasts, liver, and/or leukocytes of 6 patients with CDG I. This was the first report of phosphomannomutase deficiency in higher organisms. Other enzymes involved in the conversion of glucose to mannose 1-phosphate had normal activities. Phosphomannomutase activity was normal in fibroblasts of 2 patients with CDG IIa (212066). Since this enzyme provides the mannose 1-phosphate required for the initial step of protein glycosylation, Van Schaftingen and Jaeken (1995) concluded that phosphomannomutase deficiency is a major cause of CDG I.
Sala et al. (2002) investigated the possible relationship between lipid and protein glycosylation to determine if a compensatory mechanism was present. CDG Ia fibroblasts had higher levels of glycosphingolipids (GSLs) compared to normal fibroblasts and a diminished biosynthesis of cellular glycoproteins in metabolic studies with radioactive precursor sugars including galactose and N-acetylmannosamine. CDG Ia fibroblasts also had increased GSL biosynthesis with radiolabeled sphingosine and lactosylceramide and slowed degradation of GSLs. Using normal and CHO fibroblasts labeled with radioactive galactose in the presence or absence of dMM (an inhibitor of N-glycan maturation), Sala et al. (2002) found an inverse relationship between glycoprotein expression and GSL content. The authors concluded that the increase in GSLs may help to preserve the overall equilibrium of the outer layer of the plasma membrane.
Diagnosis
Heyne and Weidinger (1992) reported 3 cases. Analyses of the glycoprotein alpha-1-antitrypsin showed an abnormal cathodic isoform which represented almost half of the total amount of alpha-1-antitrypsin. The authors suggested the use of this marker glycoprotein as a diagnostic tool and suggested that diseases due to inborn errors of N-glycan synthesis be referred to as 'glycanoses.'
Skovby (1993) emphasized the diagnostic usefulness of the finding of inverted nipples at birth in CDG Ia. This sign in floppy infants with poor weight gain, strabismus, abnormal distribution of subcutaneous fat, and cerebellar hypoplasia can suggest the diagnosis which is confirmed by demonstration of carbohydrate-deficient transferrin in serum.
Schollen et al. (2004) concluded that the recurrence risk for CDG Ia is close to 1 in 3 rather than 1 in 4 as expected of an autosomal recessive, indicating transmission ratio distortion. In 92 independent pregnancies among couples at risk for CDG Ia, genotyping in the context of prenatal diagnosis demonstrated that the percentage of affected fetuses (34%; 31/92, p = 0.039) was higher than expected based on Mendel's second law. The transmission ratio distortion might explain the relatively high carrier frequency of the R141H mutation in the PMM2 gene (601785.0001). The authors suggested that the drive of the mutated alleles may relate to a reproductive advantage at the stage of gametogenesis, fertilization, implantation, or embryogenesis, rather than to resistance to environmental factors during infant or adult life.
### Prenatal Diagnosis
Bjursell et al. (1998) proposed the combined use of mutation analysis and linkage analysis with polymorphic markers as diagnostic tools for Scandinavian CDG I families requesting prenatal diagnosis. Using this strategy, they had successfully performed 15 prenatal diagnoses for CDG Ia to the time of report.
Pathogenesis
The typical side chains (or 'antennae') of complex-type N-linked oligosaccharides on most normal human serum glycoproteins arise from the processing and remodeling of mannose-containing structures and are therefore the net product of multiple exoglycosidases and glycosyltransferases. Based on a partial decrease in total GlcNAc transferase activity in serum, abnormalities were postulated of one or more of the specific GlcNAc transferases responsible for the initial extension of the antennae of N-linked oligosaccharides. Powell et al. (1994) studied both serum glycoproteins and oligosaccharides derived from fibroblasts of individuals with CDG type I. Several experiments failed to show a specific defect in the processing of N-linked oligosaccharides, but instead suggested a defect in the synthesis and transfer of the dolichol lipid-linked precursor itself, with reduced levels of mannose incorporation into both the precursor and nascent glycoproteins. As protein synthesis itself was not affected, the net result was a relative underglycosylation of glycoproteins in the CDG samples relative to controls. In some CDG patients, the lipid-linked oligosaccharide was abnormally small. Powell et al. (1994) concluded that at least in some patients, CDG is not due to a defect in processing of N-linked oligosaccharides, but rather to defective synthesis and transfer of nascent dolichol-linked oligosaccharide precursors.
Panneerselvam and Freeze (1996) showed that 4 CDG fibroblast cell lines had 2 glycosylation abnormalities: incorporation of labeled mannose into proteins was reduced 3- to 10-fold below normal and the size of the lipid-linked oligosaccharide precursor was much smaller than in controls. Addition of exogenous mannose, but not glucose, to these CDG cells corrected both abnormalities. The correction was not permanent, and the defects immediately reappeared when mannose was removed. Although they did not identify the primary defect in CDG, Panneerselvam and Freeze (1996) suggested that their studies showed that intracellular mannose is limited and that some patients may benefit from including mannose in their regular diets.
Barone et al. (2008) reported 2 adult Sicilian brothers with CDGIa confirmed by genetic analysis (601785.0001; 601785.0003). Clinical features in both patients included early-onset cerebellar atrophy, mental impairment, pigmentary retinopathy, and dysmorphic features. The younger brother, patient 2, was more severely affected and had additional features, including abnormal subcutaneous fat distribution, inverted nipples, genu valgum and flat and inverted feet. He also had more severely affected motor-adaptive functions and communication ability and lower full-scale IQ compared to his older brother. MALDI-TOF mass spectrometry of serum transferrin and alpha-1-antitrypsin showed more pronounced glycosylation defects in the younger brother. Barone et al. (2008) concluded that there is a correlation between absence of N-glycosylation and clinical expression, and that glycoproteomic analysis may reveal differences in CDGIa patients with different disease severity.
Mapping
Martinsson et al. (1994) performed linkage analysis in 25 CDG I pedigrees using highly polymorphic microsatellite markers and detected linkage with markers on chromosome 16p. The lod score was above 8 (theta = 0.00) for several markers in that region. Recombination events in some pedigrees indicated that the CDG1 locus was located in a 13-cM interval between D16S406 and D16S500. No heterogeneity could be detected in the European families studied. The positions of the cytogenetically localized flanking markers suggested that the CDG1 locus was on 16p13.3-p13.12.
Matthijs et al. (1996) analyzed a series of polymorphic markers on 16p13 in 17 families with CDG1 and confirmed linkage to the region between D16S406 and D16S500. The telomeric border of the candidate region was placed proximal to D16S406 by crossovers observed in 2 families. In 1 family with 2 affected sibs, the disease was not linked to 16p. Matthijs et al. (1996) stated that genetic heterogeneity had not previously been reported for CDG I and they noted implications for prenatal diagnosis. Allelic associations suggested to them that the disease locus was close to D16S414/D16S497.
Bjursell et al. (1997) studied 44 CDG I families from 9 countries using markers from the 16p13 region. One specific haplotype was found to be markedly overrepresented in CDG I patients from a geographically distinct region in Scandinavia: western parts of Sweden, southern parts of Norway, and eastern Denmark. Their analyses of the extent of the common haplotype in these families indicated a refined region for the CDG1 gene and indicated strong linkage disequilibrium with selected markers, thus narrowing the assignment to less than 1 Mb of DNA and less than 1 cM in the very distal part of the CDG1 region previously defined by Martinsson et al. (1994).
Molecular Genetics
In 16 CDG I patients from different geographic origins and with a documented phosphomannomutase deficiency, Matthijs et al. (1997) found 11 different missense mutations in the PMM2 gene (see, e.g., 601785.0001-601785.0004). Additional mutations, including point mutations, deletions, intronic mutations and exon-skipping mutations were reported by others, including Carchon et al. (1999), Matthijs et al. (1999), and Vuillaumier-Barrot et al. (1999).
Imtiaz et al. (2000) reported the U.K. experience with CDG type Ia. Eighteen patients from 14 families had been diagnosed with CDG type I on the basis of their clinical symptoms and/or abnormal electrophoretic patterns of serum transferrin. Eleven of the 16 infants died before the age of 2 years. Patients from 12 families had a typical type I transferrin profile, but one had a variant profile and another, who had many clinical features of CDG type I, had a normal profile. Eleven of the patients from 10 families with a typical type I profile had deficiency of PMM, but there was no correlation between residual enzyme activity and severity of disease. All these patients were compound heterozygotes for mutations in the PMM2 gene, with 7 of 10 families having the common arg141-to-his (601785.0001) mutation. Imtiaz et al. (2000) identified 8 different mutations in the PMM2 gene, including 3 novel ones. There was no correlation between genotype and phenotype, although the sibs had similar phenotypes. Three patients, including the one with the normal transferrin profile, did not have a deficiency of phosphomannomutase or phosphomannose isomerase.
Neumann et al. (2003) identified homozygosity for an N216I mutation (601785.0002) in the PMM2 gene in a 16-month-old boy with postnatal macrosomia, unusual eyebrows, and typical biochemical findings on isoelectric focusing of serum transferrin and reduced phosphomannomutase activity in leukocytes and cultured fibroblasts. The child did not have inverted nipples or abnormal fat pads. Neumann et al. (2003) suggested that the homozygous mutation could have a specific CDG Ia phenotype correlation.
Van de Kamp et al. (2007) reported 2 unrelated male and female infants who presented with nonimmune hydrops fetalis and were later diagnosed with CDG Ia. Both patients were compound heterozygotes for the common, relatively mild F119L mutation (601785.0006), as well as a more severe mutation (a frameshift and another missense mutation, respectively). Van de Kamp et al. (2007) suggested that the presence of 1 severe mutation may be required for the development of hydrops fetalis, and that CDG Ia should be considered in the differential diagnosis of nonimmune hydrops fetalis.
Najmabadi et al. (2011) performed homozygosity mapping followed by exon enrichment and next-generation sequencing in 136 consanguineous families (over 90% Iranian and less than 10% Turkish or Arabic) segregating syndromic or nonsyndromic forms of autosomal recessive intellectual disability. In family 8307998, they identified a homozygous missense mutation in the PMM2 gene (601785.0023) in 3 sibs with mild intellectual disability, thin upper lip, flat nasal bridge, and strabismus, who were diagnosed with glycosylation disorder CDG Ia (212065). The parents, who were first cousins, were carriers, and they had 5 healthy children.
Genotype/Phenotype Correlations
Kane et al. (2016) noted that very few individuals with CDGs have homozygous mutations compared to compound heterozygous mutations. It had been proposed that homozygous mutations are either lethal or result in subclinical phenotypes, and that a genotype conveying residual catalytic activity is necessary for survival. By analysis of DNA from cultured fibroblasts of 8 patients with variable CDGs who had compound heterozygous mutations of PMM2, MOGS (601336), MPI (154550), ALG3 (608750), ALG12 (607144), DPAGT1 (191350), and ALG1 (605907), Kane et al. (2016) found that many of the somatic cells had genotypes that included wildtype alleles. These findings suggested that mitotic recombination can generate wildtype alleles in somatic cells, which may contribute to the survival and the variable expressivity seen in individuals with compound heterozygous CDGs. The findings also provided an explanation for prior observations of a reduced frequency of homozygous mutations.
Population Genetics
Skovby (1993) stated that cases of CDG Ia had been observed in many parts of the world, including Iran and Japan, but that about half of the cases known worldwide were Scandinavian.
Bjursell et al. (1998) showed that the specific haplotype in CDG I patients from western Scandinavia is associated with the 357C-A mutation in the PMM2 gene (601785.0010).
Briones et al. (2002) presented their experience with a diagnosis of CDG Ia in 26 Spanish patients from 19 families. Patients in all but 1 of the families were compound heterozygous for mutations in the PMM2 gene. Eighteen different mutations were detected. In contrast to other series in which the R141H (601785.0001) mutation represents 43 to 53% of the alleles, only 9 of 36 (25%) of the alleles had this mutation. The common European F119L (601785.0006) mutation was not identified in any of the Spanish patients, but the V44A (601785.0020) and D65Y (601785.0005) mutations probably originated in the Iberian peninsula, as they have only been reported in Portuguese and Latin-American patients. Probably because of this genetic heterogeneity, Spanish patients showed very diverse phenotypes that are, in general, milder than in other series.
Nomenclature
CDGs were formerly referred to as 'carbohydrate-deficient glycoprotein syndromes' (Marquardt and Denecke, 2003; Grunewald et al., 2002). Conventionally, untyped and unclassified cases of CDG are labeled CDG-x (see 212067) until they are characterized at the molecular level. Orlean (2000) discussed the revised nomenclature for CDGs proposed by the participants at the First International Workshop on CDGs in Leuven, Belgium, in November 1999.
History
Jaeken (1990) favored autosomal recessive inheritance, although he had not completely abandoned the possibility of X-linked inheritance. Some have referred to the condition as the 'desialotransferrin developmental deficiency syndrome' (Kristiansson et al., 1989), but this is a misnomer since the serum protein abnormality is not limited to sialic acid or to transferrin (Jaeken, 1990).
Animal Model
Schneider et al. (2012) generated transgenic mice with homozygous or compound heterozygous hypomorphic Pmm2 alleles: R137H, which is analogous to human R141H (601785.0001), and F118L, which is predicted to lead to mild loss of enzyme activity. Homozygous R137H and compound heterozygous R137H/F118L mice were embryonic lethal. Homozygosity for R137H was associated with no residual enzymatic activity, whereas R137H/F118L mice had about 11% residual activity. Homozygous F118L mice were clinically similar to wildtype, with 38 to 42% residual PMM2 activity, which was sufficient to prevent pathologic consequences. Compound heterozygous R137H/F118L embryos showed very poor intrauterine growth with extensive degradation of multiple organs and evidence of hypoglycosylation of glycoproteins. Treatment of heterozygous F118L females with oral mannose in water beginning 1 week prior to mating resulted in a 2-fold increase of serum mannose concentrations and rescued the embryonic lethality of compound heterozygous R137H/F118L offspring, who survived beyond weaning. Compound heterozygous offspring under treatment showed organ development and glycosylation comparable to wildtype mice, indicating mannose-mediated normalization of glycosylation. The phenotypic rescue remained apparent even after 4-month maintenance of the offspring on normal water. The results revealed an essential role for proper glycosylation during embryogenesis and suggested that mannose administration to at-risk mothers may reduce the phenotype of offspring.
INHERITANCE \- Autosomal recessive GROWTH Weight \- Failure to thrive HEAD & NECK Head \- Microcephaly (50% of patients) Face \- Prominent forehead Ears \- Large ears Eyes \- Abnormal eye movements \- Internal strabismus \- Retinitis pigmentosa \- Nystagmus Nose \- Flat nasal bridge Mouth \- Thin upper lip CARDIOVASCULAR Heart \- Pericardial effusion \- Cardiomyopathy CHEST Breasts \- Inverted nipples ABDOMEN Liver \- Hepatomegaly \- Liver fibrosis \- Steatosis Gastrointestinal \- Feeding problems \- Diarrhea \- Vomiting GENITOURINARY Internal Genitalia (Female) \- Primary ovarian failure Kidneys \- Renal cysts \- Nephrotic syndrome \- Proximal tubulopathy SKELETAL \- Osteopenia Spine \- Kyphosis Limbs \- Joint contractures SKIN, NAILS, & HAIR Skin \- Abnormal subcutaneous fat tissue distribution \- Fat pads \- 'Orange peel' skin MUSCLE, SOFT TISSUES \- Abnormal subcutaneous fat tissue distribution \- Weakness NEUROLOGIC Central Nervous System \- Hypotonia \- Psychomotor retardation \- Ataxia \- Hyporeflexia \- Stroke-like episodes \- Seizures \- Most patients are wheelchair-bound \- Olivopontocerebellar hypoplasia Peripheral Nervous System \- Peripheral neuropathy ENDOCRINE FEATURES \- Hypothyroidism \- Decreased thyroxine \- Decreased thyroxine-binding globulin \- Hypergonadotropic hypogonadism HEMATOLOGY \- Prolonged prothrombin time \- Factor XI deficiency \- Antithrombin III deficiency \- Thrombocytosis IMMUNOLOGY \- Decreased immunoglobulin A (IgA) \- Decreased immunoglobulin G (IgG) PRENATAL MANIFESTATIONS Amniotic Fluid \- Nonimmune hydrops fetalis LABORATORY ABNORMALITIES \- Abnormal isoelectric focusing of serum transferrin (type 1 pattern) \- Abnormal serum glycoproteins \- Elevated transaminases \- Proteinuria \- Decreased copper, iron, zinc \- Hypocholesterolemia \- Hypoalbuminemia \- Phosphomannomutase deficiency in leukocytes, fibroblasts, or liver MISCELLANEOUS \- Two clinical presentations - solely neurologic form and a neurologic-multivisceral form \- Mortality approximately 20% in first 2 years MOLECULAR BASIS \- Caused by mutation in the phosphomannomutase 2 gene (PMM2, 601785.0001 ) ▲ 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
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*[NET]: Norepinephrine transporter
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*[OCD]: Obsessive-compulsive disorder
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*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
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*[DDD]: degenerative disc disease
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*[CEEs]: conjugated estrogens
*[Diff]: Difference
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*[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
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*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
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*[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
| CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ia | c0349653 | 29,270 | omim | https://www.omim.org/entry/212065 | 2019-09-22T16:30:17 | {"doid": ["0080552"], "mesh": ["C535739"], "omim": ["212065"], "orphanet": ["79318"], "synonyms": ["Alternative titles", "CDG Ia", "JAEKEN SYNDROME", "PHOSPHOMANNOMUTASE 2 DEFICIENCY", "CARBOHYDRATE-DEFICIENT GLYCOPROTEIN SYNDROME, TYPE Ia, FORMERLY"], "genereviews": ["NBK1110", "NBK1332"]} |
Abortion in California is legal. 57% of adults said in a poll by the Pew Research Center that abortion should be legal in all or most cases. An abortion ban was in place by 1900, and by 1950, it was a criminal offense for a woman to have an abortion. In 1962, the American Law Institute published their model penal code as it applied to abortions with three circumstances where they believed a physician could justifiably perform an abortion, and California adopted a version of this code. California passed a law guaranteeing women the right have an abortion in 2002 if their lives were at risk. The California Legislature passed the Reproductive FACT (Freedom, Accountability, Comprehensive Care, and Transparency) Act (AB-755) in October 2015 in response to Crisis Pregnancy Centers (CPCs) providing misleading and inaccurate information to women. California allow qualified non-physician health professionals, such as physician assistants, nurse practitioners, and certified nurse midwives, to do first-trimester aspiration abortions and to prescribe drugs for medical abortions by 2017. There have been a number of abortion related cases before the California Supreme Court, California Courts of Appeal and the U.S. District Court for the Southern District of California since 1969.
There have been deaths in California as a result of illegal abortions, including 35 in 1966 and 1967, and 22 in 1968 and 1969, and one between 1972 and 1974. California uses its own funds to cover all or most "medically necessary" abortions sought by low-income women under Medicaid. 88,466 were state-funded in 2010.
California has an active abortion rights activist community. Society for Human Abortion was founded in 1963 in San Francisco. People in California participated in #StopTheBans protested in May 2019, including at protests in San Francisco and Los Angeles. There is also an active anti-abortion rights community. Singer Pat Boone announced he recorded a song titled "Sixteen Thousand Faces" about the Los Angeles fetus disposal scandal in May 1985. The first Walk for Life was held on January 22, 2005. A number of acts of anti-abortion rights violence have also taken place in the state, including an attempted bombing in July 1987, fires at clinics in the late 1980s and early 1990s, and act of violence in San Francisco in February 1995 and another in Modesto in March 2003.
## Contents
* 1 Terminology
* 2 Context
* 3 History
* 3.1 Legislative history
* 3.2 Judicial history
* 3.3 Clinic history
* 4 Statistics
* 5 Illegal abortion deaths and injuries
* 6 Abortion financing
* 7 Intersections with religion and religious figures
* 8 Abortion rights views and activities
* 8.1 Organizations
* 8.2 Protests
* 8.3 Views
* 8.4 Political support
* 9 Anti-abortion activities and views
* 9.1 Activities
* 9.2 Protests
* 9.3 Violence
* 10 Footnotes
* 11 References
* 12 External links
## Terminology[edit]
Main article: Abortion
The abortion debate most commonly relates to the "induced abortion" of an embryo or fetus at some point in a pregnancy, which is also how the term is used in a legal sense.[note 1] Some also use the term "elective abortion", which is used in relation to a claim to an unrestricted right of a woman to an abortion, whether or not she chooses to have one. The term elective abortion or voluntary abortion describes the interruption of pregnancy before viability at the request of the woman, but not for medical reasons.[1]
Anti-abortion advocates tend to use terms such as "unborn baby", "unborn child", or "pre-born child",[2][3] and see the medical terms "embryo", "zygote", and "fetus" as dehumanizing.[4][5] Both "pro-choice" and "pro-life" are examples of terms labeled as political framing: they are terms which purposely try to define their philosophies in the best possible light, while by definition attempting to describe their opposition in the worst possible light. "Pro-choice" implies that the alternative viewpoint is "anti-choice", while "pro-life" implies the alternative viewpoint is "pro-death" or "anti-life".[6] The Associated Press encourages journalists to use the terms "abortion rights" and "anti-abortion".[7]
## Context[edit]
See also: Abortion in the United States
Free birth control correlates to teenage girls having a fewer pregnancies and fewer abortions. A 2014 New England Journal of Medicine study found such a link. At the same time, a 2011 study by Center for Reproductive Rights and Ibis Reproductive Health also found that states with more abortion restrictions have higher rates of maternal death, higher rates of uninsured pregnant women, higher rates of infant and child deaths, higher rates of teen drug and alcohol abuse, and lower rates of cancer screening.[8]
According to a 2017 report from the Center for Reproductive Rights and Ibis Reproductive Health, states that tried to pass additional constraints on a women's ability to access legal abortions had fewer policies supporting women's health, maternal health and children's health. These states also tended to resist expanding Medicaid, family leave, medical leave, and sex education in public schools.[9] According to Megan Donovan, a senior policy manager at the Guttmacher Institute, states have legislation seeking to protect a woman's right to access abortion services have the lowest rates of infant mortality in the United States.[9]
Poor women in the United States had problems paying for menstrual pads and tampons in 2018 and 2019. Almost two-thirds of American women could not pay for them. These were not available through the federal Women, Infants, and Children Program (WIC).[10] Lack of menstrual supplies has an economic impact on poor women. A study in St. Louis found that 36% had to miss days of work because they lacked adequate menstrual hygiene supplies during their period. This was on top of the fact that many had other menstrual issues including bleeding, cramps and other menstrual induced health issues.[10] This state was one of a majority that taxed essential hygiene products like tampons and menstrual pads as of November 2018.[11][12][13][14]
## History[edit]
On May 31, 2019, Democratic Governor Gavin Newsom issues a proclamation explaining California's abortion laws and encouraged women from states seeking to restrict a woman's ability to get an abortion to come to California for an abortion if she needs one. The statement read in part, "California will continue to uphold women's equality and liberty by protecting their reproductive freedom, educating Californians about their rights to reproductive freedom, welcoming women to California to fully exercise their reproductive rights, and acting as a model for other states that want to ensure full reproductive freedom for women."[15]
### Legislative history[edit]
In the 19th century, bans by state legislatures on abortion were about protecting the life of the mother given the number of deaths caused by abortions; state governments saw themselves as looking out for the lives of their citizens.[16] By 1950, the state legislature would pass a law that stating that a woman who had an abortion or actively sought to have an abortion regardless of whether she went through with it were guilty of a criminal offense.[16]
In 1962, the American Law Institute published their model penal code as it applied to abortions with three circumstances where they believed a physician could justifiably perform an abortion, "If ... there is substantial risk that the continuance of the pregnancy would gravely impair the physical or mental health of the mother or that the child would be born with grave physical or mental defect, or that the pregnancy resulted from rape, incest, or other felonious intercourse." In 1967, California adopted a form of this into law but did not allow an exception for birth defects.[17] Alaska, Hawaii, California and New York were the only four states that made abortion legal between 1967 and 1970 that did not require a reason to request an abortion.[18] California amended its abortion law in 1967 to address the disconnect between legal and medical justifications for therapeutic exceptions. This change made them one of the most progressive states in the country when it came to abortion rights.[19] The bill was signed into law by Governor Ronald Reagan after the legislature removed as a reason for abortion that a child had severe physical deformities.[16] State law in 1971 required that any woman getting a legal abortion in the state needed to be a resident for some specific period between 30 and 90 days.[16]
In 2002, California passed a law that said, "the state may not deny or interfere with a woman's right to choose or obtain an abortion prior to viability of the fetus, or when the abortion is necessary to protect the life or health of the woman."[20][21] The state was one of ten states in 2007 to have a customary informed consent provision for abortions.[22] Based on a report prepared by NARAL Pro-Choice America, which alleged that Crisis Pregnancy Centers (CPCs) were providing misleading and inaccurate information,[23] the California Legislature passed the Reproductive FACT (Freedom, Accountability, Comprehensive Care, and Transparency) Act (AB-755) in October 2015. It required any licensed healthcare facility that provided care services related to pregnancies to post a notice that stated "California has public programs that provide immediate free or low-cost access to comprehensive family planning services (including all FDA-approved methods of contraception), prenatal care, and abortion for eligible women." The law set provisions where this notice was to be posted and established civil fines if facilities did not comply.[24] The act required unlicensed facilities which offered certain pregnancy-related services to post a notice stating: "This facility is not licensed as a medical facility by the State of California and has no licensed medical provider who provides or directly supervises the provision of all of the services, whose primary purpose is providing pregnancy-related services."[25]
As of 2017, California, Oregon, Montana, Vermont, and New Hampshire allow qualified non-physician health professionals, such as physicians' assistants, nurse practitioners, and certified nurse midwives, to do first-trimester aspiration abortions and to prescribe drugs for medical abortions.[26] In August 2018, the state had a law to protect the right to have an abortion.[27] As of May 14, 2019, the state prohibited abortions after the fetus was viable, generally some point between week 24 and 28. This period uses a standard defined by the US Supreme Court in 1992 with the Planned Parenthood v. Casey ruling.[28]
On May 20, 2019, the California State Senate passed Senate Bill 24, the College Student Right to Access Act, that required public state universities to offer students Mifepristone, the abortion pill, to female students at zero cost; funding for the program would be paid for through insurance and private grants with $200,000 to each University of California and California State University health clinic for training and equipment. University clinics would have set aside an additional $200,000 each to set up a student hotline to provide information to women seeking advice and assistance. The bill was sponsored by Sen. Connie Leyva.[29]
### Judicial history[edit]
In 1969, the California Supreme Court ruled in favor of abortion rights after hearing an appeal launched by Dr. Leon Belous, who had been convicted of referring a woman to someone who could provide her with an illegal abortion.[30] In 1969, California's abortion law was declared unconstitutional in People v. Belous because it was vague and denied people due process.[17] The US Supreme Court's decision in 1973's Roe v. Wade ruling meant the state could no longer regulate abortion in the first trimester.[16]
In July 1984, the California Courts of Appeal overturned Superior Court of Los Angeles County judge Eli Chernow, ruling the fetuses could not be buried as human remains in the Los Angeles fetus disposal scandal, which was a win for pro-choice groups and feminists. The case had been appealed by Carol Downer of the Los Angeles Feminist Women's Health Center and the American Civil Liberties Union and was denounced by the California Pro-Life Medical Association, the Catholic League. The appealing parties argued that allowing pro-life groups to bury the remains violated the separation of church and state. The Court's opinion stated "it is clear from the record that the Catholic League is a religious organization which regards a fetus as a human being and abortion as murder. While this specific belief may well cross sectarian lines... any state action showing a preference for this belief will be strictly scrutinized and must be invalidated". Since fetal remains are normally incinerated without ceremony, there was no reason to do otherwise with these fetuses, stating "We perceive that the intended burial ceremony will enlist the prestige and power of the state. This is constitutionally forbidden." However, religious services could hold concurrent onsite memorial services, which was praised by US president Ronald Reagan in a letter to the California Pro-Life Medical Association, admiring their decision "to hold a memorial service for these children".[31][32][33] Philibosian announced he would appeal the ruling allowing onsite memorial services.[34][35] In October 1984, U.S. Supreme Court justice William Rehnquist refused to turn over the state appeals court ruling allowing the religious ceremonies.[33] This was officially upheld by the Supreme Court in March 1985.[36][37]
CPCs and the Pacific Justice Institute filed lawsuits challenging the constitutionality of the Reproductive FACT Act. The CPCs asserted that the law's requirements constituted compelled speech in violation of their rights to freedom of speech and free exercise of religion under the First Amendment.[38] Among these was a lawsuit filed in the U.S. District Court for the Southern District of California by the National Institute of Family and Life Advocates (NIFLA) who represented over 100 CPCs in California. NIFLA sought a preliminary injunction to prevent the Reproductive FACT Act from coming into force on January 1, 2016, while the lawsuit continued. The Court denied the motion for a preliminary injunction in February 2016. NIFLA appealed from the denial of the preliminary injunction to the U.S. Court of Appeals for the Ninth Circuit in June 2016, which affirmed the judgment of the District Court in a unanimous decision authored by Judge Dorothy W. Nelson, joined by Judges A. Wallace Tashima and John B. Owens.[25]
### Clinic history[edit]
Number of abortion clinics in California by year
Between 1982 and 1992, the number of abortion clinics in the state decreased by 29, going from 583 in 1982 to 554 in 1992.[39] In the period between 1992 and 1996, the state ranked first in the loss of number of abortion clinics, losing 62 to have a total of 492 in 1996.[40] In 2008, the states with the most providers were California with 522 and New York with 249 .[41] In 2014, there were 152 abortion clinics in the state.[42] In 2014, 43% of the counties in the state did not have an abortion clinic. That year, 5% of women in the state aged 15 – 44 lived in a county without an abortion clinic.[27] In March 2016, there were 114 Planned Parenthood clinics in the state.[43] In 2017, there were 110 Planned Parenthood clinics in a state with a population of 9,384,526 women aged 15 – 49 of which 93 offered abortion services.[44]
## Statistics[edit]
There were 5,030 therapeutic abortions in 1968 and 15,339 in 1969, and more than 60,000 in 1970.[40] In 1990, 3,949,000 women in the state faced the risk of an unintended pregnancy.[39] Alaska, California, and New Hampshire did not voluntarily provide the Center for Disease Control with abortion related data in 2000,[45] nor did they provide any data the following year.[46] In 2014, 57% of adults said in a poll by the Pew Research Center that abortion should be legal in all or most cases.[47] In 2017, the state had an infant mortality rate of 4.2 deaths per 1,000 live births.[9]
Number, rate, and ratio of reported abortions, by reporting area of residence and occurrence and by percentage of abortions obtained by out-of-state residents Location Residence Occurrence % obtained by out-of-state residents Year Ref
No. Rate^ Ratio^^ No. Rate^ Ratio^^
California 518 9.2 1967 [40]
California 5,031 14.8 1968 [40]
California 15,339 43.5 1969 [40]
California 304,230 42.1 1992 [48]
California 240,240 33.4 1995 [48]
California 237,830 33 1996 [48]
^number of abortions per 1,000 women aged 15–44; ^^number of abortions per 1,000 live births
Number and Percent of Therapeutic Abortions and Ratio per 1,000 Live Births by regions in California from November 1967 to 1969[40] Age Percent distribution Ratio Per 1,000 Live Births
1967 1968 1969 1967 1968 1969
Total 100 (518) 100 (5,031) 100 (15,339) 9.2 14.8 43.5
10-14 5.8 3.6 2.2 º º º
15-19 23.2 25.5 29.9 12.3 22.2 78.2
20-24 23.4 27.1 31.8 5.7 10.6 36.6
25-29 16.4 17.2 15.7 6.1 9.8 25.2
30-34 14.7 11.6 10.1 10.9 14.4 37
35-39 10.2 10 7 16 27.7 60.7
40-44 5.8 4.3 2.7 31.4 42.6 88.8
45-49 0.6 0.5 0.3 º º º
Not Reported - 0.2 0.1 º º º
Number of reported abortions, abortion rate and percentage change in rate by geographic region and state in 1992, 1995 and 1996[48] Census division and state Number Rate % change 1992–1996
1992 1995 1996 1992 1995 1996
US Total 1,528,930 1,363,690 1,365,730 25.9 22.9 22.9 –12
Pacific 368,040 290,520 288,190 38.7 30.5 30.1 –22
Alaska 2,370 1,990 2,040 16.5 14.2 14.6 –11
California 304,230 240,240 237,830 42.1 33.4 33 –22
Hawaii 12,190 7,510 6,930 46 29.3 27.3 –41
Oregon 16,060 15,590 15,050 23.9 22.6 21.6 –10
Washington 33,190 25,190 26,340 27.7 20.2 20.9 –24
Age-Specific Percent Distribution and Ratios of Therapeutic Abortions to Live Births[40] Statistical Area # of abortions
(1967–1969)
% of abortions
(1967–1969)
Ratio Per 1,000 Live Birth
1967–1969 1967 1968 1969
California 20888 100 22.8 9.2 14.8 43.5
North Coast 15 0.1 2.4 2.2 2.2 2.7
Sacramento Valley 1373 6.6 31 7.9 17.8 66.5
Mountain 85 0.4 6.5 3.4 3.6 12.3
San Francisco Bay 12568 60.2 62.1 26.5 42.7 115.4
Central Coast 337 1.6 15.6 4.7 7.8 33.8
San Joaquin Valley 429 2.1 5.3 1.8 3.3 10.9
Santa Barbara-Ventura 677 3.2 24 8.4 15.7 46.1
Los Angeles Metropolitan 4060 19.4 10.2 4.5 6.5 19.1
San Diego Metropolitan 960 4.6 14.8 3 5.7 33.8
Southeast 384 1.8 6.7 1.8 4.5 13.3
## Illegal abortion deaths and injuries[edit]
In 1966 and 1967, there were 35 illegal abortion deaths. This decreased by 35% in the period between 1968 and 1969 when there were 22 deaths.[40] In 1968, 701 women were admitted to one Los Angeles hospital alone for septic abortions, making the ratio of septic abortions to live births approximately 1 to 14.[49] In the period between 1972 and 1974, there was only one illegal abortion death in California.[50]
## Abortion financing[edit]
17 states including California use their own funds to cover all or most "medically necessary" abortions sought by low-income women under Medicaid, 13 of which are required by State court orders to do so.[51] In 2010, the state had 88,466 publicly funded abortions, of which were zero federally and 88,466 were state funded.[52]
In the Los Angeles fetus disposal scandal, Weisberg's Medical Analytical Laboratories received nearly $175,000 in Medi-Cal payments, with $88,000 coming from pathology tests on aborted fetuses. Of this, half of it ($44,000) was paid federally through the United States Department of Health and Human Services (HHS). By the Hyde Amendment, this money was ineligible for testing on pre-abortion or post-abortion tissue, which meant the state of California would need to pay back federal funds claimed by Weisberg and by any other laboratories, according to HHS inspector Richard P. Kusserow. Kusserow also stated "prior to its closing in April, 1981, [Medical Analytical Laboratories] had routinely submitted questionable billings under the Medi-Cal program, using an erroneous billing code.... the case lacked criminal prosecutive merit due to a lack of proof that the false billings were intentional. Because the laboratory was out of business, and its owner had declared bankruptcy, there were no assets against which to proceed for civil recovery".[53]
## Intersections with religion and religious figures[edit]
In 1990, John Cardinal O'Connor of New York suggested that, by supporting abortion rights, Catholic politicians who were pro-choice risked excommunication. The response of Catholic pro-choice politicians to O'Connor's comment was generally defiant. Congresswoman Nancy Pelosi asserted that, "There is no desire to fight with the cardinals or archbishops. But it has to be clear that we are elected officials and we uphold the law and we support public positions separate and apart from our Catholic faith."[54]
Politicians who have been targeted in such controversies include Lucy Killea,[55] Mario Cuomo,[56] John Kerry,[57] Rudy Giuliani,[58] and Joe Biden.[59] California's Killea's case was the first recorded.[55]
## Abortion rights views and activities[edit]
### Organizations[edit]
Against abortion? Don't have one! Sign at the Women's March 2017 in San Francisco.
The Society for Human Abortion was founded in 1963 in San Francisco. They sought to challenge laws around abortion by openly providing contraceptive and abortion services.[30][60]
### Protests[edit]
#StopTheBans was created in response to 6 states passing legislation in early 2019 that would almost completely outlaw abortion. Women wanted to protest this activity as other state legislatures started to consider similar bans as part of a move to try to overturn Roe v. Wade. At least one protest as part of #StopTheBans took place in the state.[61] Many women wore red, referencing women in Margaret Atwood's The Handmaid's Tale, at the protest in San Francisco outside City Hall.[62] Women also protested in Los Angeles in an event organized by NARAL Pro-Choice California.[62]
### Views[edit]
Women in Film Executive Director Kirsten Schaffer said of Georgia and other states similar restrictive abortion bans passed in early 2019, "A woman's right to make choices about her own body is fundamental to her personal and professional well-being. [...] We support people who make the choice not to take their production to Georgia or take a job in Georgia because of the draconian anti-choice law. To that end, we've compiled a list of pro-choice states that offer meaningful tax rebates and production incentives, and encourage everyone to explore these alternatives: California, Colorado, Hawaii, Illinois, Maine, Nevada, New Jersey, New Mexico, New York, Washington."[63]
### Political support[edit]
California Senator Kamala Harris held a 2020 Democratic Party Primary campaign rally in Birmingham, Alabama on June 7, 2019. One of the messages she talked about during her rally was abortion rights in the state. During the rally, she said that if she were president, she would require the Department of Justice to review any state law restriction abortion access "if it's coming from a state that has a history of limiting those rights." This way, the US Government could make sure that such laws were constitutional before going into effect and prevent states like Alabama from continually trying to challenge established precedent that has legalized abortion through cases like Roe v. Wade.[64]
## Anti-abortion activities and views[edit]
Protest outside clinic in the Bay Area, 1986.
A yard with a "Yes on Proposition 8" sign and a "Yes on Proposition 4" sign, near Santee, California in 2008.
### Activities[edit]
In May 1985, singer Pat Boone announced he recorded a song titled "Sixteen Thousand Faces" about the Los Angeles fetus disposal scandal, first played at a pro-life memorial service for the fetuses at Live Oak Memorial Park in Monrovia, where a granite tombstone was left with the inscription "For all those deprived of life and human love through abortion". In response, the California Abortion Rights Action League director said the service and marker "[humanized] fetuses when they deny the humanity of women already born".[65][66] The ceremony was attended by "several hundred anti-abortionists", including Representative Bob Dornan and the Feminists for Life group. At the time, the fetuses had not been disposed of.[67]
### Protests[edit]
The first Walk for Life was held on January 22, 2005. Several thousand protesters (7,000, according to organizers)[68] gathered downtown in Justin Herman Plaza and marched 2.5 miles to the Marina Green via the waterfront.[68][69]
Organizers claimed 15,000 demonstrators in 2006 and 20,000 in 2007. In 2008, the San Francisco Chronicle estimated at least 10,000 people were bussed in from all over the state and beyond.[70] On Saturday, January 24, 2009, organizers claimed "tens of thousands" of marchers.[71] On Saturday, January 22, 2011, more than 40,000 people gathered for the seventh annual Walk, in downtown San Francisco.[69][72]
### Violence[edit]
On July 27, 1987, eight members of the Bible Missionary Fellowship, a fundamentalist church in Santee, California, attempted to bomb the Alvarado Medical Center abortion clinic. Church member Cheryl Sullenger procured gunpowder, bomb materials, and a disguise for co-conspirator Eric Everett Svelmoe, who planted a gasoline bomb. It was placed at the premises but failed to detonate as the fuse was blown out by wind.[73] Rachelle "Shelley" Shannon attempted to set fires at abortion clinics in Oregon, California, Idaho and Nevada during the late 1980s and early 1990s and eventually plead guilty for these cases of arson. In 1993, she would be found guilty of attempted murder of Dr. George Tiller in 1993 at his Wichita, Kansas clinic.[74] An incident of anti-abortion violence occurred at an abortion clinic in San Francisco, California on February 28, 1995.[74] Another occurred at an abortion clinic in Modesto, California on March 19, 2003.[74]
## Footnotes[edit]
1. ^ According to the Supreme Court's decision in Roe v. Wade:
> (a) For the stage prior to approximately the end of the first trimester, the abortion decision and its effectuation must be left to the medical judgement of the pregnant woman's attending physician. (b) For the stage subsequent to approximately the end of the first trimester, the State, in promoting its interest in the health of the mother, may, if it chooses, regulate the abortion procedure in ways that are reasonably related to maternal health. (c) For the stage subsequent to viability, the State in promoting its interest in the potentiality of human life may, if it chooses, regulate, and even proscribe, abortion except where it is necessary, in appropriate medical judgement, for the preservation of the life or health of the mother.
Likewise, Black's Law Dictionary defines abortion as "knowing destruction" or "intentional expulsion or removal".
## References[edit]
1. ^ Watson K (December 2018). "Why We Should Stop Using the Term "Elective Abortion"". AMA Journal of Ethics. 20 (12): E1175–1180. doi:10.1001/amajethics.2018.1175. PMID 30585581.
2. ^ Chamberlain, Pam; Hardisty, Jean (2007). "The Importance of the Political 'Framing' of Abortion". The Public Eye Magazine. 14 (1).
3. ^ "The Roberts Court Takes on Abortion". New York Times. November 5, 2006. Retrieved January 18, 2008.
4. ^ Brennan 'Dehumanizing the vulnerable' 2000
5. ^ Getek, Kathryn; Cunningham, Mark (February 1996). "A Sheep in Wolf's Clothing – Language and the Abortion Debate". Princeton Progressive Review.
6. ^ "Example of "anti-life" terminology" (PDF). Archived from the original (PDF) on 2011-07-27. Retrieved 2011-11-16.
7. ^ Goldstein, Norm, ed. The Associated Press Stylebook. Philadelphia: Basic Books, 2007.
8. ^ Castillo, Stephanie (2014-10-03). "States With More Abortion Restrictions Hurt Women's Health, Increase Risk For Maternal Death". Medical Daily. Retrieved 2019-05-27.
9. ^ a b c "States pushing abortion bans have highest infant mortality rates". NBC News. Retrieved 2019-05-25.
10. ^ a b Mundell, E.J. (January 16, 2019). "Two-Thirds of Poor U.S. Women Can't Afford Menstrual Pads, Tampons: Study". US News & World Report. Retrieved May 26, 2019.
11. ^ Larimer, Sarah (January 8, 2016). "The 'tampon tax,' explained". The Washington Post. Archived from the original on December 11, 2016. Retrieved December 10, 2016.
12. ^ Bowerman, Mary (July 25, 2016). "The 'tampon tax' and what it means for you". USA Today. Archived from the original on December 11, 2016. Retrieved December 10, 2016.
13. ^ Hillin, Taryn. "These are the U.S. states that tax women for having periods". Splinter. Retrieved 2017-12-15.
14. ^ "Election Results 2018: Nevada Ballot Questions 1-6". KNTV. Retrieved 2018-11-07.
15. ^ Mikelionis, Lukas (2019-06-01). "Abortion seekers welcome in California, governor says, as pro-life measures gain elsewhere in US". Fox News. Retrieved 2019-06-02.
16. ^ a b c d e Buell, Samuel (1991-01-01). "Criminal Abortion Revisited". New York University Law Review. 66 (6): 1774–1831. PMID 11652642.
17. ^ a b Tyler CW (1983). "The public health implications of abortion". Annual Review of Public Health. 4: 223–58. doi:10.1146/annurev.pu.04.050183.001255. PMID 6860439.
18. ^ Willke JC (September 1992). "Very few illegal abortion deaths". American Journal of Obstetrics and Gynecology. 167 (3): 854–5. doi:10.1016/s0002-9378(11)91601-9. PMID 1530050.
19. ^ Willon, Phil (May 31, 2019). "Newsom to women seeking abortions: California welcomes you". Los Angeles Times. Retrieved 2019-05-31.
20. ^ "California Code, Health and Safety Code - HSC § 123462". Findlaw. Retrieved 2019-05-25.
21. ^ "Are there *any* states working to protect abortion rights?". Well+Good. 2019-05-17. Retrieved 2019-05-25.
22. ^ "State Policy On Informed Consent for Abortion" (PDF). Guttmacher Policy Review. Fall 2007. Retrieved May 22, 2019.
23. ^ Green, Emma (March 19, 2018). "Should Pro-Life Clinics Have to Post Information About Abortion?". The Atlantic. Retrieved March 19, 2018.
24. ^ "AB-775 Reproductive FACT Act". California State Congress. October 15, 2015. Retrieved March 15, 2018.
25. ^ a b National Institute of Family and Life Advocates v. Harris, 839 F.3d 823 (9th Cir. 2016).
26. ^ "Study: Abortions Are Safe When Performed By Nurse Practitioners, Physician Assistants, Certified Nurse Midwives". Retrieved 25 January 2017.
27. ^ a b businessinsider (2018-08-04). "This is what could happen if Roe v. Wade fell". Business Insider (in Spanish). Retrieved 2019-05-24.
28. ^ Lai, K. K. Rebecca (2019-05-15). "Abortion Bans: 8 States Have Passed Bills to Limit the Procedure This Year". The New York Times. ISSN 0362-4331. Retrieved 2019-05-24.
29. ^ "California Senate advances bill to provide abortion pill access for public university students at no cost". www.cbsnews.com. Retrieved 2019-06-02.
30. ^ a b Tribune, Chicago. "Timeline of abortion laws and events". chicagotribune.com. Retrieved 2019-05-23.
31. ^ Rohrlich, Ted (20 August 1983). "L.A. County Won't Prosecute in Abortions: Court Fight Still Being Waged on How to Dispose of 16,431 Fetuses". Los Angeles Times. p. A6.
32. ^ Blake, Gene (3 July 1984). "Appeal Court Bars Disputed Plan to Bury 16,000 Fetuses". Los Angeles Times. p. C1.
33. ^ a b "The Region: U.S. Supreme Court...". Los Angeles Times. 12 October 1984. p. OC2.
34. ^ "The Region". Los Angeles Times. 10 July 1984. p. SD2.
35. ^ Hernandez, Marita (28 September 1984). "County Will Take Fetus Issue to U.S. High Court". Los Angeles Times. p. D1.
36. ^ "L.A. County Loses Plea to Bury 16,500 Fetuses (UPI)". Los Angeles Times. 18 March 1985. p. A2.
37. ^ Hager, Philip (19 March 1985). "Court Clears the Way for Disposal of Fetuses". Los Angeles Times.
38. ^ McEvers, Kelly (November 5, 2015). "California Law Adds New Twist To Abortion, Religious Freedom Debate". All Things Considered. NPR. Retrieved March 15, 2018.
39. ^ a b Arndorfer, Elizabeth; Michael, Jodi; Moskowitz, Laura; Grant, Juli A.; Siebel, Liza (December 1998). A State-By-State Review of Abortion and Reproductive Rights. DIANE Publishing. ISBN 9780788174810.
40. ^ a b c d e f g h Jackson EW, Tashiro M, Cunningham GC (July 1971). "Therapeutic abortions in California". California Medicine. 115 (1): 28–33. PMC 1517904. PMID 5566342.
41. ^ Jones RK, Kooistra K (March 2011). "Abortion incidence and access to services in the United States, 2008" (PDF). Perspectives on Sexual and Reproductive Health. 43 (1): 41–50. doi:10.1363/4304111. PMID 21388504.
42. ^ Gould, Rebecca Harrington, Skye (2017-02-10). "The number of abortion clinics in the US has plunged in the last decade — here's how many are in each state". Business Insider. Retrieved 2019-05-23.
43. ^ Bohatch, Emily. "27 states with the most Planned Parenthood clinics". thestate. Retrieved 2019-05-24.
44. ^ "Here's Where Women Have Less Access to Planned Parenthood". Retrieved 2019-05-23.
45. ^ "Abortion Surveillance --- United States, 2000". www.cdc.gov. Retrieved 2019-05-25.
46. ^ "Abortion Surveillance --- United States, 2001". www.cdc.gov. Retrieved 2019-05-25.
47. ^ "Views about abortion by state - Religion in America: U.S. Religious Data, Demographics and Statistics". Pew Research Center. Retrieved 2019-05-23.
48. ^ a b c d "Abortion Incidence and Services in the United States, 1995-1996". Guttmacher Institute. 2005-06-15. Retrieved 2019-06-02.
49. ^ Larson, Jordan. "Timeline: The 200-Year Fight for Abortion Access". The Cut. Retrieved 2019-05-25.
50. ^ Cates W, Rochat RW (March 1976). "Illegal abortions in the united states: 1972–1974". Family Planning Perspectives. 8 (2): 86–92. doi:10.2307/2133995. JSTOR 2133995. PMID 1269687.
51. ^ Francis Roberta W. "Frequently Asked Questions". Equal Rights Amendment. Alice Paul Institute. Archived from the original on 2009-04-17. Retrieved 2009-09-13.
52. ^ "Guttmacher Data Center". data.guttmacher.org. Retrieved 2019-05-24.
53. ^ Jackson, Robert (29 May 1983). "State May Owe U.S. Millions for Tests on Fetuses". Los Angeles Times. p. A12.
54. ^ Marcovitz, Hal (1 February 2009). Nancy Pelosi: Politician. Infobase Publishing. p. 40. ISBN 978-1-60413-075-1. Retrieved 17 January 2012.
55. ^ a b "A Bishop Says No". Time. November 27, 1989.
56. ^ West, John G.; MacLean, Iain S. (1999). Encyclopedia of religion in American politics, Volume 2. Greenwood Publishing Group. p. 98. ISBN 9781573561303. Retrieved 2011-12-26.
57. ^ Hancock, David (2004-04-06). "Kerry's Communion Controversy". CBS News. Retrieved 2011-12-26.
58. ^ "Outspoken Catholic Archbishop Raymond Burke Says He'd Deny Rudy Giuliani Communion". Fox News. AP. 2007-10-03. Archived from the original on 2013-05-27. Retrieved 2011-12-26.
59. ^ Kirkpatrick, David (2008-09-16). "Abortion Issue Again Dividing Catholic Votes". The New York Times. Retrieved 2011-12-26.
60. ^ Pollitt, Katha (1997-05-01). "Abortion in American History". The Atlantic. Retrieved 2019-05-26.
61. ^ Arnold, Amanda (2019-05-21). "How to Join the Nationwide Abortion-Ban Protest Today". The Cut. Retrieved 2019-05-25.
62. ^ a b FOX. "Thousands protest restrictive abortion legislation at #StopTheBans events nationwide". WNYW. Retrieved 2019-05-25.
63. ^ Low, Matt Donnelly,Gene Maddaus,Elaine; Donnelly, Matt; Maddaus, Gene; Low, Elaine (2019-05-28). "Netflix the Only Hollywood Studio to Speak Out in Attack Against Abortion Rights (EXCLUSIVE)". Variety. Retrieved 2019-06-02.
64. ^ Koplowitz, Howard (2019-06-08). "Kamala Harris in Alabama: 'Legitimate fear' that women will die from abortion ban". al.com. Retrieved 2019-06-08.
65. ^ "Boone Song Inspired by Fetus Protest". Los Angeles Times. 14 May 1985. p. OC17.
66. ^ Jalon, Allan (14 May 1985). "Fetuses Left Unburied Prompt Song by Pat Boone". Los Angeles Times. p. V_A6.
67. ^ Baker, Bob (20 May 1985). "Several Hundred Anti-Abortionists Attend Service for Fetuses". Los Angeles Times. p. C2.
68. ^ a b History: 2005 Archived 2008-07-03 at the Wayback Machine. Walk for Life West Coast website. Retrieved 2011-01-27.
69. ^ a b The 7th Annual Walk for Life brings 50,000 to stand for Life! (home page). Walk for Life West Coast website. Retrieved 2011-01-27.
70. ^ Ustinova, Anastasia; Russell, Sabin (January 20, 2008). "Thousands march against abortion in S.F." SFGate (San Francisco Chronicle). Hearst Communications, Inc. Retrieved 2011-01-27.
71. ^ "Tens of Thousands Crowd San Francisco Waterfront, Rally Against Abortion" (Press release). Walk for Life West Coast. January 24, 2009. Archived from the original on February 12, 2012. Retrieved 2011-01-27.
72. ^ Pronechen, Joseph (January 25, 2011). "United for the Unborn: UPDATED: Walk for Life West Coast draws record crowds, as other events bring together pro-lifers". National Catholic Register. Circle Media, Inc. Retrieved 2011-01-27.
73. ^ Frammolino, Ralph (May 6, 1988). "2 Get Prison for Trying to Bomb Abortion Clinic". Los Angeles Times.
74. ^ a b c Jacobson, Mireille; Royer, Heather (December 2010). "Aftershocks: The Impact of Clinic Violence on Abortion Services". American Economic Journal: Applied Economics. 3: 189–223. doi:10.1257/app.3.1.189.
## External links[edit]
* Image of a woman holding a large crucifix amid protesters with "Keep Abortion Legal" signs, Los Angeles, California, 1989. Los Angeles Times Photographic Archive (Collection 1429). UCLA Library Special Collections, Charles E. Young Research Library, University of California, Los Angeles.
Abortion in the United States by state
States
* Alabama
* Alaska
* Arizona
* Arkansas
* California
* Colorado
* Connecticut
* Delaware
* Florida
* Georgia
* Hawaii
* Idaho
* Illinois
* Indiana
* Iowa
* Kansas
* Kentucky
* Louisiana
* Maine
* Maryland
* Massachusetts
* Michigan
* Minnesota
* Mississippi
* Missouri
* Montana
* Nebraska
* Nevada
* New Hampshire
* New Jersey
* New Mexico
* New York
* North Carolina
* North Dakota
* Ohio
* Oklahoma
* Oregon
* Pennsylvania
* Rhode Island
* South Carolina
* South Dakota
* Tennessee
* Texas
* Utah
* Vermont
* Virginia
* Washington
* West Virginia
* Wisconsin
* Wyoming
Federal district
Washington, D.C.
Insular areas
* American Samoa
* Guam
* Northern Mariana Islands
* Puerto Rico
* U.S. Virgin Islands
*[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
| Abortion in California | None | 29,271 | wikipedia | https://en.wikipedia.org/wiki/Abortion_in_California | 2021-01-18T18:39:14 | {"wikidata": ["Q64876905"]} |
Scorpion envenomation is a rare intoxication caused by a scorpion sting which typically manifests with localized pain, edema, erythema, and paresthesias at the site of the sting and, when severe, progresses to produce systemic symptoms of variable severity that include respiratory difficulties, abnormal systemic blood pressure, cardiac arrhythmia, and a combination of parasympathetic (i.e. excessive salivation and lacrimation, diaphoresis, miosis, frequent urination, diarrhea, vomiting, priapism) and sympathetic (e.g. hyperthermia, hyperglycemia, mydriasis) manifestations. Neurological manifestations may also be associated, such as abnormal eye movements, blurred vision, agitation and restlessness, as well as muscle fasciculations and spasms. Signs and symptoms are highly variable and in most severe cases may lead to cardiogenic shock and pulmonary edema.
*[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
| Scorpion envenomation | None | 29,272 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=466677 | 2021-01-23T17:21:58 | {"icd-10": ["T63.2"]} |
Excoriated acne
Other namesPicker's acne or Acné excoriée des jeunes filles
SpecialtyDermatology
Excoriated acne is a mild acne accompanied by extensive excoriations.[1][2]
## See also[edit]
* List of cutaneous conditions
## References[edit]
1. ^ Freedberg, et al. (2003). Fitzpatrick's Dermatology in General Medicine. (6th ed.). McGraw-Hill. Page 684. ISBN 0-07-138076-0.[1]
2. ^ 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
* ICD-10: L70.5
* 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 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
| Excoriated acne | c0343078 | 29,273 | wikipedia | https://en.wikipedia.org/wiki/Excoriated_acne | 2021-01-18T18:53:26 | {"umls": ["C0343078"], "icd-10": ["L70.5"], "wikidata": ["Q22933529"]} |
Char et al. (1975) described mother and son who had premature ventricular contractions, short stature, microcephaly, dull intelligence, and cutaneous hyperpigmentation. Premature ventricular contractions occasionally occur in kindreds in a pattern consistent with autosomal dominant inheritance (115000).
Head \- Microcephaly Neuro \- Dull intelligence Inheritance \- Autosomal dominant Growth \- Short stature Skin \- Hyperpigmentation Cardiac \- Premature ventricular contractions ▲ 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
| EXTRASYSTOLES, MULTIFORM VENTRICULAR, WITH SHORT STATURE, HYPERPIGMENTATION AND MICROCEPHALY | c1851412 | 29,274 | omim | https://www.omim.org/entry/133750 | 2019-09-22T16:41:16 | {"mesh": ["C565032"], "omim": ["133750"], "orphanet": ["1964"]} |
Wildervanck syndrome
Other namesCervicooculoacoustic syndrome[1]
SpecialtyNeurology
Wildervanck syndrome or cervico-oculo-acoustic syndrome comprises a triad of:[2][3]
* Duane syndrome
* Klippel-Feil anomaly (fused cervical vertebrae)
* congenital hearing loss
Wildervanck syndrome is a developmental disorder that may be characterized by accessory tragi.[4][5]
## References[edit]
1. ^ RESERVED, INSERM US14-- ALL RIGHTS. "Orphanet: Wildervanck syndrome". www.orpha.net. Retrieved 28 April 2019.
2. ^ "OMIM Entry-314600 - WILDERVANCK SYNDROME".
3. ^ "Wildervanck Syndrome".
4. ^ Rapini, Ronald P.; Bolognia, Jean L.; Jorizzo, Joseph L. (2007). Dermatology: 2-Volume Set. St. Louis: Mosby. p. 894. ISBN 978-1-4160-2999-1.
5. ^ Mehta, B; Nayak, C; Savant, S; Amladi, S (2007). "Goldenhar syndrome with unusual features". Indian Journal of Dermatology, Venereology and Leprology. 74 (3): 254–6. doi:10.4103/0378-6323.41374. PMID 18583796.
## External links[edit]
Classification
D
* OMIM: 314600
* MeSH: C536706
* DiseasesDB: 31452
External resources
* Orphanet: 3456
This article about a medical condition affecting the nervous 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
| Wildervanck syndrome | c0265239 | 29,275 | wikipedia | https://en.wikipedia.org/wiki/Wildervanck_syndrome | 2021-01-18T18:36:21 | {"gard": ["5569"], "mesh": ["C535326", "C536706"], "umls": ["C0265239"], "orphanet": ["3456"], "wikidata": ["Q8001196"]} |
A number sign (#) is used with this entry because mitochondrial pyruvate carrier deficiency (MPYCD) is caused by homozygous mutation in the BRP44L gene (614738) on chromosome 6q27.
Description
Mitochondrial pyruvate carrier deficiency is an autosomal recessive metabolic disorder characterized by delayed psychomotor development and lactic acidosis with a normal lactate/pyruvate ratio resulting from impaired mitochondrial pyruvate oxidation (summary by Bricker et al., 2012).
Clinical Features
Brivet et al. (2003) reported a girl, born of related Algerian parents, with a severe metabolic disorder resulting in death at age 19 months. At birth, she had respiratory distress, hepatomegaly, lactic acidosis, and transient hypoglycemia. Laboratory studies showed increased serum pyruvate and lactate, a normal lactate/pyruvate ratio, mildly increased ketone bodies, and excretion of organic acids. Although pyruvate dehydrogenase deficiency (see, e.g., 312170) was suspected, treatment for that disorder did not result in clinical improvement and patient fibroblasts showed normal pyruvate dehydrogenase activity. The child had an encephalopathy, with severely delayed psychomotor development, rotary nystagmus, hypotonia, extensor plantar responses, and poor visual contact. She also had dysmorphic features, including progressive microcephaly, epicanthus, long philtrum, thin upper lip, and small inverted and widely spaced nipples. Studies of patient fibroblasts showed impaired production of citric acid cycle intermediates and impaired release of CO2 from pyruvate, whereas pyruvate showed normal oxidation in cells with a disrupted mitochondrial membrane or with increasing concentrations of pyruvate. The findings were consistent with a defect in pyruvate transport across the mitochondrial membrane. In a subsequent pregnancy, an affected fetus was recognized using an assay measuring pyruvate oxidation in trophoblasts.
Bricker et al. (2012) reported 3 patients from 2 additional consanguineous families with a similar, but less severe, disorder. Affected children had psychomotor retardation, with epilepsy in 1 family and peripheral neuropathy in the other. The patients were alive at 5 to 14 years of age.
Molecular Genetics
In 4 patients from 3 unrelated consanguineous families with mitochondrial pyruvate carrier deficiency, Bricker et al. (2012) identified 2 different homozygous mutations in the BRP44L gene (614738.0001 and 614738.0002). The mutations were identified by homozygosity mapping followed by candidate gene sequencing.
INHERITANCE \- Autosomal recessive GROWTH Other \- Poor overall growth HEAD & NECK Head \- Microcephaly, progressive (in 1 patient) Face \- Long philtrum (in 1 patient) Eyes \- Epicanthal folds (in 1 patient) \- Rotary nystagmus (in 1 patient) \- Poor visual contact (in 1 patient) Mouth \- Thin upper lip (in 1 patient) RESPIRATORY \- Respiratory distress (in 1 patient) CHEST Breasts \- Inverted widely spaced nipples (in 1 patient) ABDOMEN Liver \- Hepatomegaly MUSCLE, SOFT TISSUES \- Hypotonia NEUROLOGIC Central Nervous System \- Delayed psychomotor development \- Encephalopathy (in 1 patient) \- Seizures (in some patients) Peripheral Nervous System \- Peripheral neuropathy (in some patients) METABOLIC FEATURES \- Lactic acidosis \- Hypoglycemia LABORATORY ABNORMALITIES \- Increased serum lactate \- Increased serum pyruvate \- Normal lactate:pyruvate ratio \- Impaired oxidation of pyruvate \- Organic aciduria MISCELLANEOUS \- Onset at birth \- Variable severity \- Four patients from 3 unrelated families have been reported (last curated July 2012) MOLECULAR BASIS \- Caused by mutation in the brain protein 44-like gene (BRP44L, 614738.0001 ) ▲ 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
| MITOCHONDRIAL PYRUVATE CARRIER DEFICIENCY | c3553607 | 29,276 | omim | https://www.omim.org/entry/614741 | 2019-09-22T15:54:21 | {"doid": ["0080363"], "omim": ["614741"], "orphanet": ["447784"], "synonyms": []} |
A number sign (#) is used with this entry because some patients with Meacham syndrome have mutations in the WT1 gene (607102).
See also Denys-Drash syndrome (194080), an allelic disorder with overlapping clinical features.
Clinical Features
Meacham et al. (1991) reported 2 unrelated genetic males with a novel constellation of genital, cardiac, and pulmonary malformations. The genital abnormalities consisted of a true double vagina, retention of mullerian structures, and undervirilization of the external genitalia. Both infants had complex cyanotic congenital heart defects, hypoplastic right lungs, anomalous pulmonary venous return, and abnormalities of the diaphragm. One patient had rhabdomyomatous dysplasia of the lungs. There was no family history of similar defects, no consanguinity, no known exposure to teratogens, and no chromosome abnormality. The authors suggested that the unusual occurrence of a true double vagina should lead to careful pulmonary and cardiac evaluation.
Toriello and Higgins (1991) reported another child with sex reversal and cardiac, pulmonary, and diaphragm defects.
Killeen et al. (2002) reported a female infant of 42 weeks' gestation with a left-sided diaphragmatic hernia and a hypoplastic left heart. A true double vagina, absent uterus, and abnormal male gonads were found in the presence of normal external female genitalia. Conventional G-band karyotyping of skin samples revealed a normal male karyotype. The authors stated that this was the fifth reported case of Meacham syndrome.
Suri et al. (2007) reported detailed clinical features of 8 patients, including 2 half-sibs, with Meacham syndrome. All had a normal male karyotype, 46,XY, with complex sex reversal or ambiguous genitalia, and congenital diaphragmatic hernia. Other symptoms, including heart, pulmonary, and genital defects, were variable. All patients died early in life. None had renal mesangial sclerosis or Wilms tumor, thus excluding a diagnosis of Denys-Drash syndrome.
Molecular Genetics
In 2 patients with Meacham syndrome, Suri et al. (2007) identified heterozygous mutations in the WT1 gene (R366W, 607102.0026 and R394W, 607102.0003); neither patient had congenital heart defects. DNA material from 6 other patients with this disorder was not available for testing. Suri et al. (2007) noted that both WT1 mutations had been identified in patients with Denys-Drash syndrome, illustrating the phenotypic overlap between the 2 disorders.
*[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
| MEACHAM SYNDROME | c1837026 | 29,277 | omim | https://www.omim.org/entry/608978 | 2019-09-22T16:06:52 | {"mesh": ["C538162"], "omim": ["608978"], "orphanet": ["3097"]} |
Mycoplasma capricolum subsp. capricolum
Scientific classification
Kingdom:
Bacteria
Phylum:
Tenericutes or
Firmicutes
Class:
Mollicutes
Order:
Mycoplasmatales
Family:
Mycoplasmataceae
Genus:
Mycoplasma
Nowak 1929
Species:
M.capricolum
Subspecies:
capricolum
Contagious caprine pleuropneumonia (CCPP) is a cause of major economic losses to goat producers in Africa, Asia and the Middle East.
Disease is caused by members of the Mycoplasma genus – usually Mycoplasma capricolum subsp. capricolum but sometimes by M. mycoides subsp. capri or M. mycoides subsp. mycoides. It is extremely contagious with very high morbidity and mortality rates, causing an interstitial fibrinous pleuropneumonia in infected goats. Infection is spread by close-contact aerosol, therefore overcrowding and confinement increases disease incidence. Stress factors such as malnutrition and long transport can also predispose animals to disease.
Goats are the only species affected, therefore the disease is not a zoonosis. There is no age breed or sex predilection, but clinical signs are often worse in younger animals.
## Contents
* 1 Clinical signs
* 2 Diagnosis
* 3 Treatment and control
* 4 See also
* 5 References
* 6 External links
## Clinical signs[edit]
Affected animals normally have generalised signs such as depression, dullness, weakness and lethargy, pyrexia and weight loss and decreased production. They will also have respiratory signs including bilateral nasal discharge, dyspnoea, tachypnoea and coughing. Occasionally the only sign seen is sudden death.
Typical pathological lesions are very suggestive of the disease – they are localised exclusively to the lung and pleura. Lungs are normally a port wine colour and abundant pleural exudate and pleuritis and adhesions are common. The pleural exudates may have solidified forming a gelatinous covering.
Histological examination of the lung tissues may show acute serofibrinous to chronic fibrino-necrotic pleuropneumonia with neutrophilic inflammation in the alveoli, bronchioles, interstitial septae and subpleural connective tissue.
## Diagnosis[edit]
The simplest procedure for 'in field diagnosis' is the detection of antibodies by latex agglutination (LAT) as it is quick and simple to run, and has a long shelf-life. Other procedures used for diagnosis include growth inhibition disc tests (GI), direct and indirect fluorescent antibody tests, complement fixation tests (CFT), indirect haemagglutination test (IHA), ELISA and PCR. These have varying degrees of efficacy.
Isolation of M. capricolum subsp. capripneumoniae from clinical samples is the only way to definitively diagnose the infection but it is not normally performed as it is time consuming and difficult.
## Treatment and control[edit]
Macrolides, tetracyclines and quinolones are active against M. capricolum subsp. capripneumoniae. Disease incidence is reduced by good hygiene and husbandry practices.
Movement restrictions and slaughtering infected animals are recommended for countries that are newly infected.
## See also[edit]
* Contagious bovine pleuropneumonia
* Mycoplasma
* Mycoplasma mycoides
## References[edit]
* Contagious Caprine Pleuropneumonia, reviewed and published by Wikivet at http://en.wikivet.net/Contagious_Caprine_Pleuropneumonia, accessed 31/08/2011.
## External links[edit]
* Current status of Contagious caprine pleuropneumonia worldwide at OIE. WAHID Interface – OIE World Animal Health Information Database
* Disease card
*[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
| Contagious caprine pleuropneumonia | c0276045 | 29,278 | wikipedia | https://en.wikipedia.org/wiki/Contagious_caprine_pleuropneumonia | 2021-01-18T19:03:58 | {"wikidata": ["Q1877482"]} |
Diffuse large B-cell lymphoma with chronic inflammation is an Epstein-Barr virus-associated malignant lymphoproliferative disorder, developing in a context of long-standing or slow-growing, chronically inflamed lesions, such as chronic pyothorax, metallic implants in bones and joints, chronic osteomyelitis, chronic venous ulcer, or, rarely granulomatous inflammation. The tumor is usually primarily localized, with no involvement of other organs.
*[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
| Diffuse large B-cell lymphoma with chronic inflammation | None | 29,279 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=300888 | 2021-01-23T18:38:37 | {"icd-10": ["C83.3"], "synonyms": ["DLBCL with chronic inflammation"]} |
Strongyloidiasis is a parasitic disease caused by the roundworm Strongyloides stercoralis (S. stercoralis). People catch the infection when they come in contact with soil contaminated with the worms. While there are often no symptoms, abdominal pain, cough, diarrhea, rash, unintentional weight loss and vomiting may occur. The infection is treated with anti-worm medications such as ivermectin. Strongyloidiasis is found in tropical and subtropical areas, but can also be found in temperate regions, including the southern United States.
*[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
| Strongyloidiasis | c0038463 | 29,280 | gard | https://rarediseases.info.nih.gov/diseases/8195/strongyloidiasis | 2021-01-18T17:57:29 | {"mesh": ["D013322"], "synonyms": ["Threadworm Infection"]} |
Overview about the effects of COVID-19 infection on pregnancy
COVID-19 in pregnancy
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The effect of COVID-19 infection on pregnancy is not completely known because of the lack of reliable data.[2] If there is increased risk to pregnant women and fetuses, so far it has not been readily detectable.
Predictions based on similar infections such as SARS and MERS suggest that pregnant women are at an increased risk of severe infection[3][4] but findings from studies to date show that clinical characteristics of COVID-19 pneumonia in pregnant women were similar to those reported from non-pregnant adults.[5][6]
There are no data suggesting an increased risk of miscarriage of pregnancy loss due to COVID-19 and studies with SARS and MERS do not demonstrate a relationship between infection and miscarriage or second trimester loss.[7]
It is unclear yet whether conditions arising during pregnancy including diabetes, cardiac failure, hypercoagulability or hypertension might represent additional risk factors for pregnant women as they do for non-pregnant women.[5]
From the limited data available, vertical transmission during the third trimester probably does not occur, or only occurs very rarely. There is no data yet on early pregnancy.[5]
## Contents
* 1 Research about COVID-19 in pregnancy
* 1.1 Effect on pregnant women
* 1.2 Effect on labour
* 1.3 Effect on the fetus
* 1.4 Transmission
* 2 Predictions
* 3 Recommendations
* 3.1 General recommendations
* 3.2 Antenatal care
* 3.3 During labour
* 3.4 Postnatal care
* 4 Impact of the COVID-19 pandemic on pregnant women
* 5 See also
* 6 References
## Research about COVID-19 in pregnancy[edit]
Little evidence exists to permit any solid conclusions about the nature of COVID-19 infection in pregnancy.[8]
### Effect on pregnant women[edit]
In May 2020, the Royal College of Obstetricians and Gynaecologists (RCOG) and the Royal College of Midwives (RCM) reported the results from a UK Obstetric Surveillance System (UKOSS) study of 427 pregnant women and their babies.[9] This study showed that 4.9 pregnant women per 1000 were admitted to hospital with COVID-19 and 1 in 10 of these required intensive care.[10]
The findings of this study support earlier suggestions that pregnant women are not at greater risk of severe illness than non-pregnant women. Similar risk factors also apply: women in the study were more likely to be admitted to hospital if they were older, overweight or obese, or had pre-existing conditions such as diabetes or high blood pressure.[9] Five women died but it is not yet clear whether the virus was the cause of death.[9] Since the majority of women who became severely ill were in their third trimester of pregnancy, the RCOG and RCM emphasised the importance of social distancing for this group.[9] The study also found that 55% of pregnant women admitted to hospital with COVID-19 were from a black or other minority ethnic (BAME) background, which is far higher than the percentage of BAME women in the UK population. Speaking for the RCOG, Dr Christine Ekechi stated that it is of "great concern" that over half of those admitted to hospital were from a BAME background, that there were already "persisting vulnerabilities" for this group, and that the RCOG was updating guidance to lower the threshold to review, admit and consider escalation of care for pregnant women of BAME background.[9] The UK Audit and Research Collaborative in Obstetrics and Gynaecology undertook a UK wide evaluation of women's health care services in response to the acute phase of the pandemic, finding more work was required in the long term for the provision of both maternity and gynaecology oncology services.[11][12]
A case series of 43 women from New York who tested positive for COVID-19 showed similar patterns to non-pregnant adults: 86% had mild disease, 9.3% had severe disease and 4.7% developed critical disease.[13] Another study found the cases of COVID-19 pneumonia in pregnancy were milder and with good recovery.[14]
A study of 9 infected women at the third trimester of pregnancy from Wuhan, China showed that they showed fever (in six of nine patients), muscle pain (in three), sore throat (in two) and malaise (in two). Fetal distress was reported in two. None of the women developed severe COVID-19 pneumonia or died. All of them had live birth pregnancies and no severe neonatal asphyxia was observed. The samples of breast milk, amniotic fluid, cord blood and neonatal throat swab were tested for SARS-CoV-2, and all results were negative.[6]
In another study on 15 pregnant women, majority of the patients presented with fever and cough, while laboratory tests yielded lymphocytopenia in 12 patients.[15] Computed tomography findings of these patients were consistent with previous reports of non-pregnant patients, consisting of ground-glass opacities at early stage.[15][16] Follow-up images after delivery showed no progression of pneumonia.[15]
Media reports indicate that over 100 women with COVID-19 might have delivered, and in March 2020, no maternal deaths were reported.[17] In April 2020, a 27-year old pregnant woman at 30 weeks of pregnancy died in Iran; her death may have been caused by COVID-19.[18]
The RCOG advised in early April 2020 that because pregnancy is a hypercoagulable state and that people admitted to hospital with COVID-19 are also hypercoagulable, infection with COVID-19 could increase the risk of venous thromboembolism and that this risk could be compounded by reduced mobility due to self-isolating.[19] Their guidelines thus advise that any pregnant woman admitted to hospital with a COVID-19 infection should receive at least 10 days of prophylactic low-molecular-weight heparin after being discharged from the hospital.[20]
Recently, the International Registry of Coronavirus Exposure in Pregnancy (IRCEP) was launched as a collaboration between Pregistry and the Harvard TH Chan School of Public Health.[21]
### Effect on labour[edit]
There are limited data concerning the implications of COVID-19 infections for labour.[5] Al-kuraishy et al. reported that COVID-19 in pregnancy may increase the risk of preterm labour. Preterm delivery is regarded as a chief outcome of COVID-19 pneumonia during pregnancy.[19] The UKOSS study found that median gestational age at birth was 38 weeks and that 27% of women studied had preterm births. Of these, most (47%) were interventions given because of risk to the mother's health and 15% were because of risk to the foetus.[7]
### Effect on the fetus[edit]
There are currently no data to suggest increased risk of miscarriage or early pregnancy loss in relation to COVID-19.[19]
### Transmission[edit]
Early studies indicated no evidence for vertical transmission of COVID-19 from mother to child in late pregnancy[6] but more recent reports indicate that vertical transmission may occur in some cases.[22][23]
Early research found two neonates to be infected with COVID-19 but it was considered that transmission likely occurred in the postnatal period.[24]
It is also to be noted that the human placenta expresses factors that are important in the pathogenesis of COVID-19.[25]
More recent small-scale findings indicate that vertical transmission may be possible. One infant girl born to a mother with COVID-19 had elevated IgM levels two hours after birth, suggesting that she had been infected in utero and supporting the possibility of vertical transmission in some cases.[22] A small study involving 6 confirmed COVID-19 mothers showed no indication of SARS-CoV-2 in their newborns' throats or serum but antibodies were present in neonatal blood sera samples, including IgM in two of the infants.[23] This is not usually passed from mother to fetus so further research is required to know whether the virus crossed the placenta or whether placentas of women in the study were damaged or abnormal.[23]
A set of triplets were born prematurely with COVID-19 at the Ignacio Morones Prieto Central Hospital in San Luis Potosí, Mexico, on June 17, 2020. Both parents tested negative and the children were reported stable.[26]
## Predictions[edit]
Since COVID-19 shows similarities to SARS-CoV and MERS-CoV, it is likely that their effect on pregnancy are similar. During the 2002–03 pandemic, 12 women who were infected with SARS-CoV were studied.[27] Four of seven had first trimester miscarriage, two of five had fetal growth restriction in the second trimester, and four of five had preterm birth. Three women died during pregnancy. None of the newborns were infected with SARS-CoV.[27] A report of ten cases of MERS- CoV infection in pregnancy in Saudi Arabia showed that the clinical presentation is variable, from mild to severe infection. The outcome was favorable in a majority of the cases, but the infant death rate was 27%.[28]
A recent review suggested that COVID-19 appeared to be less lethal to mothers and infants than SARS and MERS but that there may be an increased risk of preterm birth after 28 weeks' gestation.[29]
47 million women in 114 low and middle-income countries are projected by UNFPA to be unable to use modern contraceptives if the average lockdown, or COVID-19-related disruption, continues for 6 months with major disruptions to services: For every 3 months the lockdown continues, assuming high levels of disruption, up to 2 million additional women may be unable to use modern contraceptives. If the lockdown continues for 6 months and there are major service disruptions due to COVID-19, an additional 7 million unintended pregnancies are expected to occur by UNFPA. The number of unintended pregnancies will increase as the lockdown continues and services disruptions are extended.[30]
## Recommendations[edit]
The World Health Organization and Centers for Disease Control and Prevention of the United States advises pregnant women to do the same things as the general public to avoid infection, such as covering cough, avoid interacting with sick people, cleaning hands with soap and water or sanitizer.[2][4]
### General recommendations[edit]
The United Nations Population Fund (UNFPA) recommends seven general measures for all episodes of contact with maternity patients undergoing care:[31]
1. Ensure staff and patient access to clean hand washing facilities prior to facility entry.
2. Have basic soap at each health facility wash station along with a clean cloth or disposable hand towels for hand drying.
3. If midwives provide direct patient care, they must frequently wash their hands with soap and water for at least 20 seconds each time. This must happen before every new woman is seen and again before their physical exam. Midwives should wash again immediately after the exam and again once the patient leaves. Washing should also occur after cleaning surfaces and coughing or sneezing. Hand sanitizer can also be applied especially if clean water is unavailable.[31]
4. Avoid touching the mouth, nose or eyes.
5. Staff and patients should be advised to cough into a tissue or their elbow and wash hands afterwards.
6. Midwives should keep a social distance of at least 2 arms lengths during any clinical visit. As long as hand washing is performed before and after the physical exam women without suspected or confirmed COVID-19, the physical exam and patient contact should continue as usual. if hand washing is performed before and after.[31]
7. Spray surfaces used by patients and staff with bleach or another. Be sure to wipe down the surface with a paper towel or clean cloth in between patients and wash hands.[31]
8. Childbirth, antenatal care and postnatal care are carried out by midwives and represent some of the most important health care services in the women's health sector and are directly linked to mortality and morbidity rates.[31]
9. It is essential that the SRMNAH workforce, including midwives, is included in the emergency response and distribution plans to receive sufficient PPE and orientation how to use PPE correctly.[31]
10. Since midwifery care is continuing to be an essential service that women must be able to access it is very important that midwives receive support, mentoring and orientation how to re-organise services to keep providing quality care (i.e. respecting the public health advice of at least 2m between women, as few as possible midwives looking after one woman (few staff in the room), hand washing hygiene).[31]
11. Midwives must receive evidence-based information that they can protect themselves from contracting COVID-19 when caring for a symptomatic woman, or from a woman who was exposed to a COVID-19 positive person.[31]
12. Midwives play an essential role in reducing stigma and battling the spreading belief that health facilities are to be avoided to stay healthy/ not contract COVID-19.[31]
13. It can be expected that the reorganisation/ removal of funds from sectors that midwives work in, will directly be linked to an upward trend of maternal and newborn morbidity and mortality pushing countries further away from their SDG targets].[31]
### Antenatal care[edit]
The RCOG and RCM strongly advise that antenatal and postnatal care should be regarded as essential, and that "pregnant women will continue to need at least as much support, advice, care and guidance in relation to pregnancy, childbirth and early parenthood as before".[19]
In May 2020, a spokesperson for the RCOG suggested that black and other minority ethnic women should be warned that they may have greater risk of complications from the virus and should be advised to seek help early if concerned.[9] Moreover, healthcare professionals should be aware of the increased risk and have a lower threshold to review, admit and escalate care provided to women of BAME background.[7]
To minimise the risk of infection, the RCOG and RCM advise that some appointments may be conducted remotely via teleconferencing or videoconferencing.[19] A survey conducted in Shanghai among pregnant women in different trimesters of pregnancy identified a strong demand for online access to health information and services.[32] Women expecting their first baby were more willing to have online consultation and guidance than who had previously given birth.[32]
The RCOG and RCM recommend that in-person appointments be deferred by 7 days after the start of symptoms of COVID-19 or 14 days if another person in the household has symptoms.[19] Where in-person appointments are required, pregnant patients with symptoms or confirmed COVID-19 who require obstetric care are advised to notify the hospital or clinic before they arrive in order for infection control to be put in place.[5][19]
Universal screening at the New York–Presbyterian Allen Hospital and Columbia University Irving Medical Center found that out of 215 pregnant patients, four (1.9%) had symptoms and were positive for COVID-19 and 29 (13.7%) were asymptomatic but tested positive for the virus.[33] Fever subsequently developed in three asymptomatic patients. One patient who had tested negative subsequently became symptomatic postpartum and tested positive three days after the initial negative test.[33] The doctors conducting the screening recommended that in order to reduce infection and allocate PPE, due to high numbers of patients presenting as asymptomatic, universal screening of pregnant patients should be conducted.[33]
### During labour[edit]
In the UK, official guidelines state that women should be permitted and encouraged to have one asymptomatic birth partner present with them during their labour and birth.[19]
There is no evidence regarding if there is vaginal shedding of the virus, so the mode of birth (vaginal or caesarean) should be discussed with the woman in labour and take into consideration her preferences if there are no other contraindications.[17][19] If a patient has a scheduled elective caesarean birth or a planned induction of labour, an individual assessment should consider whether it is safe to delay the procedure to minimise the risk of infecting others.[19] Products of conception, such as the placenta, amnion etc. have not been shown to have congenital coronavirus exposure or infection, and do not pose risk of coronavirus infection.[34]
The RCOG and the RCM recommend that epidurals should be recommended to patients with confirmed or suspected COVID-19 in labour so that the need for general anaesthesia is minimised if urgent intervention for birth is required.[19] They also suggest that women with suspected or confirmed COVID-19 should have continuous electronic fetal monitoring.[19] The use of birthing pools is not recommended for suspected or confirmed cases of COVID-19 due to the risk of infection via faeces.[19]
### Postnatal care[edit]
In the UK, official recommendations state that precautionary separation of a mother and a healthy baby should not be undertaken lightly and that they should be kept together in the postpartum period where neonatal care is not required.[19] According to UN Population Fund, women are encouraged to breastfeed as normal to the extent possible in consultation with the healthcare provider.[34]
Literature from China recommended separation of infected mothers from babies for 14 days.[19] In the US there is also the recommendation that newborns and mothers should be temporarily separated until transmission-based precautions are discontinued, and that where this is not possible the newborn should be kept 2 metres away from the mother.[5]
UNFPA recommends it is critical that all women have access to safe birth, the continuum of antenatal and postnatal care, including screening tests according to national guidelines and standards, especially in epicenters of the pandemic, where access to services for pregnant women, women in labour and delivery, and lactating women is negatively impacted.[35]
## Impact of the COVID-19 pandemic on pregnant women[edit]
According to UN Women, the diversion of attention and critical resources away from women's reproductive health could exacerbate maternal mortality and morbidity and increase the rate of adolescent pregnancies.[36] The United Nations Population Fund recommends that having access to safe birth, antenatal care, postnatal care and screening tests according to national guidelines is critical, particularly in areas where the pandemic has overwhelmed hospitals, so that reproductive health is negatively impacted.[34]
## See also[edit]
* Gendered impact of the COVID-19 pandemic
* Impact of the COVID-19 pandemic on abortion in the United States
## References[edit]
1. ^ Burgos, Diario de (2020-03-30). "Muere en La Coruña una embarazada con Covid-19 de 37 años". Diario de Burgos (in Spanish). Retrieved 2020-03-31.
2. ^ a b "Coronavirus Disease 2019 (COVID-19)". Centers for Disease Control and Prevention. 11 February 2020. Retrieved 19 March 2020.
3. ^ Favre, Guillaume; Pomar, Léo; Musso, Didier; Baud, David (22 February 2020). "2019-nCoV epidemic: what about pregnancies?". The Lancet. 395 (10224): e40. doi:10.1016/S0140-6736(20)30311-1. ISSN 0140-6736. PMC 7133555. PMID 32035511. Retrieved 19 March 2020.
4. ^ a b "Q&A on COVID-19, pregnancy, childbirth and breastfeeding". www.who.int. Retrieved 6 April 2020.
5. ^ a b c d e f Mimouni, Francis; Lakshminrusimha, Satyan; Pearlman, Stephen A.; Raju, Tonse; Gallagher, Patrick G.; Mendlovic, Joseph (2020-04-10). "Perinatal aspects on the covid-19 pandemic: a practical resource for perinatal–neonatal specialists". Journal of Perinatology. 40 (5): 820–826. doi:10.1038/s41372-020-0665-6. ISSN 1476-5543. PMC 7147357. PMID 32277162.
6. ^ a b c Chen, Huijun; Guo, Juanjuan; Wang, Chen; Luo, Fan; Yu, Xuechen; Zhang, Wei; Li, Jiafu; Zhao, Dongchi; Xu, Dan; Gong, Qing; Liao, Jing; Yang, Huixia; Hou, Wei; Zhang, Yuanzhen (7 March 2020). "Clinical characteristics and intrauterine vertical transmission potential of COVID-19 infection in nine pregnant women: a retrospective review of medical records". The Lancet. 395 (10226): 809–815. doi:10.1016/S0140-6736(20)30360-3. ISSN 0140-6736. PMC 7159281. PMID 32151335. Retrieved 19 March 2020.
7. ^ a b c "Coronavirus (COVID-19) infection and pregnancy Version 9" (PDF). Royal College of Obstetricians & Gynaecologists. 13 May 2020. Retrieved 2020-05-14.
8. ^ "Sexual and Reproductive Health and Rights, Maternal and Newborn Health & COVID-19". www.unfpa.org. Retrieved 5 June 2020.
9. ^ a b c d e f "RCOG and RCM respond to UKOSS study of more than 400 pregnant women hospitalised with coronavirus". Royal College of Obstetricians & Gynaecologists. 11 May 2020. Retrieved 2020-05-12.
10. ^ Knight M, Bunch K, Vousden N, Morris E, Simpson N, Gale C, O'Brien P, Quigley M, Brocklehurst P, Kurinczuk JJ (8 June 2020). "Characteristics and outcomes of pregnant women hospitalised with confirmed SARS-CoV-2 infection in the UK: a national cohort study using the UK Obstetric Surveillance System (UKOSS)". BMJ. 369: m2107. doi:10.1136/bmj.m2107. PMC 7277610. PMID 32513659.
11. ^ Rimmer MP, Al Wattar BH, et al. (UKARCOG Members) (27 May 2020). "Provision of obstetrics and gynaecology services during the COVID‐19 pandemic: a survey of junior doctors in the UK National Health Service". BJOG: An International Journal of Obstetrics & Gynaecology. 127 (9): 1123–1128. doi:10.1111/1471-0528.16313. ISSN 1470-0328. PMC 7283977. PMID 32460422.
12. ^ http://ukarcog.org/
13. ^ Breslin, Noelle; Baptiste, Caitlin; Gyamfi-Bannerman, Cynthia; Miller, Russell; Martinez, Rebecca; Bernstein, Kyra; Ring, Laurence; Landau, Ruth; Purisch, Stephanie; Friedman, Alexander M.; Fuchs, Karin (2020-04-09). "COVID-19 infection among asymptomatic and symptomatic pregnant women: Two weeks of confirmed presentations to an affiliated pair of New York City hospitals". American Journal of Obstetrics & Gynecology MFM: 100118. doi:10.1016/j.ajogmf.2020.100118. ISSN 2589-9333. PMC 7144599. PMID 32292903.
14. ^ Liu, Dehan; Li, Lin; Wu, Xin; Zheng, Dandan; Wang, Jiazheng; Yang, Lian; Zheng, Chuansheng (2020-03-18). "Pregnancy and Perinatal Outcomes of Women With Coronavirus Disease (COVID-19) Pneumonia: A Preliminary Analysis". American Journal of Roentgenology. 215 (1): 127–132. doi:10.2214/AJR.20.23072. ISSN 0361-803X. PMID 32186894. S2CID 213185956.
15. ^ a b c Liu, Dehan; Li, Lin; Wu, Xin; Zheng, Dandan; Wang, Jiazheng; Yang, Lian; Zheng, Chuansheng (2020-03-18). "Pregnancy and Perinatal Outcomes of Women With Coronavirus Disease (COVID-19) Pneumonia: A Preliminary Analysis". American Journal of Roentgenology. 215: 127–132. doi:10.2214/AJR.20.23072. ISSN 0361-803X. PMID 32186894. S2CID 213185956.
16. ^ Salehi, Sana; Abedi, Aidin; Balakrishnan, Sudheer; Gholamrezanezhad, Ali (2020-03-14). "Coronavirus Disease 2019 (COVID-19): A Systematic Review of Imaging Findings in 919 Patients". American Journal of Roentgenology. 215 (1): 87–93. doi:10.2214/AJR.20.23034. ISSN 0361-803X. PMID 32174129.
17. ^ a b Liang, Huan; Acharya, Ganesh (2020). "Novel corona virus disease (COVID-19) in pregnancy: What clinical recommendations to follow?". Acta Obstetricia et Gynecologica Scandinavica. 99 (4): 439–442. doi:10.1111/aogs.13836. ISSN 1600-0412. PMID 32141062. S2CID 212569131.
18. ^ Karami, Parisa; Naghavi, Maliheh; Feyzi, Abdolamir; Aghamohammadi, Mehdi; Novin, Mohammad Sadegh; Mobaien, Ahmadreza; Qorbanisani, Mohamad; Karami, Aida; Norooznezhad, Amir Hossein (2020-04-11). "Mortality of a pregnant patient diagnosed with COVID-19: A case report with clinical, radiological, and histopathological findings". Travel Medicine and Infectious Disease: 101665. doi:10.1016/j.tmaid.2020.101665. ISSN 1477-8939. PMC 7151464. PMID 32283217.
19. ^ a b c d e f g h i j k l m n o "Coronavirus (COVID-19) infection and pregnancy Version 7". Royal College of Obstetricians & Gynaecologists. 9 April 2020. Retrieved 2020-04-14.
20. ^ Coronavirus (COVID-19) Infection in Pregnancy (PDF) (Report). RCOG. 24 July 2020. p. 49. Retrieved 15 September 2020.
21. ^ "International Registry of Coronavirus Exposure in Pregnancy (IRCEP)". corona.pregistry.com. Retrieved 7 June 2020.
22. ^ a b Dong, Lan; Tian, Jinhua; He, Songming; Zhu, Chuchao; Wang, Jian; Liu, Chen; Yang, Jing (2020-03-26). "Possible Vertical Transmission of SARS-CoV-2 From an Infected Mother to Her Newborn". JAMA. doi:10.1001/jama.2020.4621. PMC 7099527. PMID 32215581.
23. ^ a b c Zeng, Hui; Xu, Chen; Fan, Junli; Tang, Yueting; Deng, Qiaoling; Zhang, Wei; Long, Xinghua (2020-03-26). "Antibodies in Infants Born to Mothers With COVID-19 Pneumonia". JAMA. doi:10.1001/jama.2020.4861. PMC 7099444. PMID 32215589.
24. ^ Qiao, Jie (7 March 2020). "What are the risks of COVID-19 infection in pregnant women?". The Lancet. 395 (10226): 760–762. doi:10.1016/S0140-6736(20)30365-2. ISSN 0140-6736. PMC 7158939. PMID 32151334. Retrieved 19 March 2020.
25. ^ Ashary N, Bhide A, Chakraborty P, Colaco S, Mishra A, Chhabria K, Jolly MK, Modi D (19 August 2020). "Single-Cell RNA-seq Identifies Cell Subsets in Human Placenta That Highly Expresses Factors Driving Pathogenesis of SARS-CoV-2". Front Cell Dev Biol. 8: 783. doi:10.3389/fcell.2020.00783. PMC 7466449. PMID 32974340.
26. ^ "Newborn triplets diagnosed with Covid-19 in stable condition, say Mexican health officials". CNN. Retrieved June 27, 2020.
27. ^ a b Wong, Shell F.; Chow, Kam M.; Leung, Tse N.; Ng, Wai F.; Ng, Tak K.; Shek, Chi C.; Ng, Pak C.; Lam, Pansy W. Y.; Ho, Lau C.; To, William W. K.; Lai, Sik T.; Yan, Wing W.; Tan, Peggy Y. H. (1 July 2004). "Pregnancy and perinatal outcomes of women with severe acute respiratory syndrome". American Journal of Obstetrics & Gynecology. 191 (1): 292–297. doi:10.1016/j.ajog.2003.11.019. ISSN 0002-9378. PMC 7137614. PMID 15295381. Retrieved 19 March 2020.
28. ^ Alfaraj, Sarah H.; Al-Tawfiq, Jaffar A.; Memish, Ziad A. (1 June 2019). "Middle East Respiratory Syndrome Coronavirus (MERS-CoV) infection during pregnancy: Report of two cases & review of the literature". Journal of Microbiology, Immunology and Infection. 52 (3): 501–503. doi:10.1016/j.jmii.2018.04.005. ISSN 1684-1182. PMC 7128238. PMID 29907538.
29. ^ Mullins, E.; Evans, D.; Viner, R. M.; O'Brien, P.; Morris, E. (2020). "Coronavirus in pregnancy and delivery: rapid review". Ultrasound in Obstetrics & Gynecology. n/a (n/a): 586–592. doi:10.1002/uog.22014. ISSN 1469-0705. PMID 32180292. S2CID 212739349.
30. ^ Impact of the COVID-19 Pandemic on Family Planning and Ending Gender-based Violence, Female Genital Mutilation and Child Marriage (PDF). UNFPA. 2020.
31. ^ a b c d e f g h i j "COVID-19 Technical Brief for Maternity Services". www.unfpa.org. Retrieved 2020-06-06.
32. ^ a b Du, L.; Gu, Y. B.; Cui, M. Q.; Li, W. X.; Wang, J.; Zhu, L. P.; Xu, B. (2020-03-25). "[Investigation on demands for antenatal care services among 2 002 pregnant women during the epidemic of COVID-19 in Shanghai]". Zhonghua Fu Chan Ke Za Zhi. 55 (3): 160–165. doi:10.3760/cma.j.cn112141-20200218-00112. ISSN 0529-567X. PMID 32268713. S2CID 215611766.
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34. ^ a b c "COVID-19 Technical Brief for Maternity Services". www.unfpa.org. Retrieved 5 June 2020.
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*[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
| COVID-19 in pregnancy | None | 29,281 | wikipedia | https://en.wikipedia.org/wiki/COVID-19_in_pregnancy | 2021-01-18T19:10:59 | {"wikidata": ["Q88058672"]} |
Emanuel syndrome is a chromosomal disorder that disrupts normal development and affects many parts of the body. Infants with Emanuel syndrome have weak muscle tone (hypotonia) and fail to gain weight and grow at the expected rate (failure to thrive). Their development is significantly delayed, and most affected individuals have severe to profound intellectual disability.
Other features of Emanuel syndrome include an unusually small head (microcephaly), distinctive facial features, and a small lower jaw (micrognathia). Ear abnormalities are common, including small holes in the skin just in front of the ears (preauricular pits or sinuses). About half of all affected infants are born with an opening in the roof of the mouth (cleft palate) or a high arched palate. Males with Emanuel syndrome often have genital abnormalities. Additional signs of this condition can include heart defects and absent or unusually small (hypoplastic) kidneys; these problems can be life-threatening in infancy or childhood.
## Frequency
Emanuel syndrome is a rare disorder; its prevalence is unknown. More than 100 individuals with this condition have been reported.
## Causes
Emanuel syndrome is caused by the presence of extra genetic material from chromosome 11 and chromosome 22 in each cell. In addition to the usual 46 chromosomes, people with Emanuel syndrome have an extra (supernumerary) chromosome consisting of a piece of chromosome 11 attached to a piece of chromosome 22. The extra chromosome is known as a derivative 22 or der(22) chromosome.
As a result of the extra chromosome, people with Emanuel syndrome have three copies of some genes in each cell instead of the usual two copies. The excess genetic material disrupts the normal course of development, leading to the characteristic signs and symptoms of this disorder. Researchers are working to determine which genes are included on the der(22) chromosome and what role these genes play in development.
### Learn more about the chromosomes associated with Emanuel syndrome
* chromosome 11
* chromosome 22
## Inheritance Pattern
Almost everyone with Emanuel syndrome inherits the der(22) chromosome from an unaffected parent. The parent carries a chromosomal rearrangement between chromosomes 11 and 22 called a balanced translocation. No genetic material is gained or lost in a balanced translocation, so these chromosomal changes usually do not cause any health problems. However, translocations can become unbalanced as they are passed to the next generation. Individuals with Emanuel syndrome inherit an unbalanced translocation between chromosomes 11 and 22 that introduces extra genetic material in the form of the der(22) chromosome. This extra genetic material causes birth defects and the other health problems characteristic of 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
| Emanuel syndrome | c1836929 | 29,282 | medlineplus | https://medlineplus.gov/genetics/condition/emanuel-syndrome/ | 2021-01-27T08:25:51 | {"gard": ["9835"], "mesh": ["C535733"], "omim": ["609029"], "synonyms": []} |
A number sign (#) is used with this entry because of evidence that 5-oxoprolinase deficiency can be caused by heterozygous or homozygous mutation in the OPLAH gene (614243) on chromosome 8q24.
Description
5-Oxoprolinuria can be caused by genetic defects in either of 2 enzymes involved in the gamma-glutamyl cycle of glutathione metabolism: glutathione synthetase (GSS; 601002) or 5-oxoprolinase (OPLAH; 614243). GSS deficiency (266130) is best characterized as an inborn error of glutathione metabolism, but there is debate as to whether OPLAH deficiency represents a disorder or simply a biochemical condition with no adverse clinical effects because patients lack a consistent clinical picture apart from 5-oxoprolinuria (summary by Calpena et al., 2013).
Clinical Features
Larsson et al. (1981) reported the cases of 2 brothers, aged 16 and 11, who had enterocolitis and urolithiasis and exhibited excessive excretion of 5-oxo-L-proline. They had had recurrent episodes of vomiting, diarrhea, and abdominal pain, starting in infancy. Urinary stones in 1 of the brothers contained calcium oxalate and carbonate. One patient had a plasma 5-oxoproline level of about 0.18 mM. They had normal erythrocyte glutathione levels and did not show acidosis, neurologic symptoms, or hemolysis. The glutathione synthetase activities of erythrocytes, leukocytes, and cultured skin fibroblasts were within normal limits (see 266130), as was also the activity of erythrocyte gamma-glutamylcysteine synthetase (see 601176). The cultured skin fibroblasts of both brothers and the leukocytes of one of them exhibited very low levels of 5-oxoprolinase. The activity in the cells of the parents had a level intermediate between those of the brothers and controls.
Roesel et al. (1981) found 5-oxoprolinase deficiency in a woman who was found to excrete large quantities of 5-oxoproline when she was studied in connection with her child who had prolinemia and birth defects. The father and the child had daily urinary 5-oxoproline excretion that was less than 1 mM/day. The mother's plasma 5-oxoproline level was 9 times greater than that in controls. Cultured skin fibroblasts had about 2% of control values of 5-oxoprolinase. Although the urinary excretion of 5-oxoproline and the level of depression of 5-oxoprolinase activity was about the same in all 3 patients, the clinical findings were different. See Meister and Larsson (1989).
Henderson et al. (1993) described a 2-year-old boy who developed transient hypoglycemia 8 hours after birth and was found on subsequent evaluation to have markedly elevated urinary concentrations of 5-oxoproline. Hematologic investigation revealed no abnormality, and he had normal levels of glutathione synthetase (GSS; 601002) and normal activities of gamma-glutamyl cyclotransferase (GGCT; 137170) and gamma-glutamylcysteine synthetase. However, the leukocyte level of 5-oxoprolinase activity was markedly reduced. The boy remained in good health and exhibited normal growth and psychomotor development, with no evidence of acidosis, hypoglycemia, or other metabolic disturbance. Family studies revealed that his clinically unaffected 6-year-old brother also excreted large amounts of 5-oxoproline.
Almaghlouth et al. (2012) reported a 10-month-old Indian boy, born of first-cousin parents, who had transient hypoglycemia at birth and was also found to have indirect hyperbilirubinemia and mild metabolic acidemia. Extended newborn screening revealed moderately elevated 5-oxoproline in the urine. Repeated blood gas measurements were normal, but he continued to have elevated 5-oxoproline levels in the urine. Motor, social, and cognitive development were normal for age. He had an 8-year-old sister with no known medical problems.
Calpena et al. (2013) studied a 1-year-old Indian girl, born of nonconsanguineous parents, who presented at 1.5 months of age with repeated episodes of respiratory difficulties with perioral cyanosis while breastfeeding, accompanied by generalized tonic-clonic seizures. Evaluation revealed vitamin D deficiency with hypocalcemia, increased phosphate levels, elevated PTH (168450), and metabolic acidosis. General and neurologic examinations were normal between episodes, and EEG and brain ultrasound were normal. Vitamin D and B12 supplementation was provided with normalization of all altered biochemical parameters and normal development at 1 year of age. Urinary organic acids were analyzed 3 times, showing increased pyroglutamic acid excretion twice during decompensation, with normalization at 1 year of age. Calpena et al. (2013) also studied an 8-year-old boy with Duchenne muscular dystrophy (310200) and a known deletion in the dystrophin gene (300377), who was incidentally found to have massive urinary excretion of pyroglutamic acid. Blood glutathione levels were normal in both children, and no causes of secondary increased excretion of pyroglutamate were detected.
Molecular Genetics
In a 10-month-old Indian boy with 5-oxoprolinase deficiency, Almaghlouth et al. (2012) analyzed the candidate genes GSS and OPLAH and identified homozygosity for a 1-bp insertion in the OPLAH gene (614243.0001). His clinically unaffected sister was also homozygous for the mutation and was subsequently found to have increased 5-oxoproline excretion in the urine. Their first-cousin parents were heterozygous for the mutation. Given the largely benign course of these sibs despite persistent 5-oxoprolinuria, Almaghlouth et al. (2012) noted that it would be important to establish the molecular basis in the few cases with abnormal neurologic outcomes, to exclude potentially overlapping biochemical defects and explore potential genotype/phenotype correlations.
In a 1-year-old Indian girl and an unrelated 8-year-old boy who both manifested massive excretion of 5-oxoproline in urine, but who had no symptoms related to glutathione cycle defects and were negative for mutation in the GSS gene, Calpena et al. (2013) identified heterozygosity for missense mutations in the OPLAH gene (614243.0002 and 614243.0003, respectively).
Sass et al. (2016) reported 20 new mutations in 14 families with pyroglutamic aciduria. The clinical features were highly variable and in several sib pairs did not segregate with 5-oxoprolinuria. One patient, his asymptomatic father, and healthy sib were all found to be homozygous for a missense mutation that is prevalent in Saudi Arabia. The authors concluded that there is no pathogenic effect of 5-oxoprolinuria.
INHERITANCE \- Autosomal recessive \- Autosomal dominant ABDOMEN \- Abdominal pain Gastrointestinal \- Enterocolitis \- Vomiting \- Diarrhea GENITOURINARY Kidneys \- Calcium oxalate/carbonate urolithiasis LABORATORY ABNORMALITIES \- Excessive urinary 5-oxo-L-proline \- 5-oxoprolinase deficiency MISCELLANEOUS \- Some patients are clinically unaffected. MOLECULAR BASIS \- Caused by mutation in the 5-oxoprolinase gene (OPLAH, 614243.0001 ) ▲ 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
| 5-OXOPROLINASE DEFICIENCY | c0268525 | 29,283 | omim | https://www.omim.org/entry/260005 | 2019-09-22T16:23:48 | {"mesh": ["C535322"], "omim": ["260005"], "orphanet": ["33572"], "synonyms": ["Alternative titles", "OXOPROLINURIA DUE TO 5-OXOPROLINASE DEFICIENCY"]} |
Giant condyloma acuminatum
Other namesGiant condyloma of Buschke–Löwenstein tumor
Man, aged 63, with a massive cauliflower-like penile mass with several urinary fistulae making the penile shaft indistinguishable.
SpecialtyInfectious disease
Giant condyloma acuminatum (also known as a Buschke–Löwenstein tumor[1]) is a rare cutaneous condition characterized by an aggressive, wart-like growth that is a verrucous carcinoma.[2]:409 It is attributed to human papillomavirus.[3]
Due to their size, these tumors can be locally invasive and destructive. Owing to their impressive growth patterns, Buschke-Löwenstein tumors displace and destroy adjacent structures from compression.[4] In general these masses are benign, but the potential for malignant transformation to squamous cell carcinoma exists in the long term, as does the rare risk for metastasis.[5][6][7][8] Buschke-Löwensteoin tumors are frequently associated with HPV subtypes 6 and 11.[4]
Treatment involves surgical resection and possible chemoradiotherapy.[6][8][7] Although penile sparing is the goal, total penectomy may be required. They have high recurrence rates; therefore, close follow-up is crucial.[4]
## See also[edit]
* List of cutaneous conditions
* List of verrucous carcinoma subtypes
## 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. ^ James, William D.; Berger, Timothy G.; et al. (2006). Andrews' Diseases of the Skin: clinical Dermatology. Saunders Elsevier. ISBN 0-7216-2921-0.
3. ^ "Condyloma Acuminata". Retrieved 2010-09-22.
4. ^ a b c Pettaway CA, Crook JM, Pagliaro LC. Tumors of the penis. In: Wein AJ, Kavoussi LR, Partin AW, Peters CA, eds. Campbell-Walsh Urology. 11th ed. Philadelphia, PA: Elsevier; 2016: ch 37.
5. ^ Safi F, Bekdache O, Al-Salam S, Alashari M, Mazen T. Giant condyloma acuminatum of Buschke–Lowenstein tumour: disease development between 2000 and 2010. Surg Pract. 2014 Feb;2014:18(1):27-36. Available at: https://onlinelibrary.wiley.com/doi/full/10.1111/1744-1633.12047. Accessed April 15, 2020.
6. ^ a b Kim HG, Kesey JE, Griswold JA. Giant anorectal condyloma acuminatum of Buschke-Löwenstein presents difficult management decisions. J Surg Case Rep. 2018 Apr 3;2018(4):rjy058. PMID: 29644039
7. ^ a b Venter F, Heidari A, Viehweg M, Rivera M, Natarajan P, Cobos E. Giant condylomata acuminata of Buschke-Lowenstein associated with paraneoplastic hypercalcemia. J Investig Med High Impact Case Rep. 2018 Feb 15;6:2324709618758348. PMID: 29479542
8. ^ a b Papapanagiotou IK, Migklis K, Ioannidou G, et al. Giant condyloma acuminatum-malignant transformation. Clin Case Rep. 2017 Feb 23;5(4):537-8. PMID: 28396786
* v
* t
* e
Skin infections, symptoms and signs related to viruses
DNA virus
Herpesviridae
Alpha
HSV
* Herpes simplex
* Herpetic whitlow
* Herpes gladiatorum
* Herpes simplex keratitis
* Herpetic sycosis
* Neonatal herpes simplex
* Herpes genitalis
* Herpes labialis
* Eczema herpeticum
* Herpetiform esophagitis
Herpes B virus
* B virus infection
VZV
* Chickenpox
* Herpes zoster
* Herpes zoster oticus
* Ophthalmic zoster
* Disseminated herpes zoster
* Zoster-associated pain
* Modified varicella-like syndrome
Beta
* Human herpesvirus 6/Roseolovirus
* Exanthema subitum
* Roseola vaccinia
* Cytomegalic inclusion disease
Gamma
* KSHV
* Kaposi's sarcoma
Poxviridae
Ortho
* Variola
* Smallpox
* Alastrim
* MoxV
* Monkeypox
* CPXV
* Cowpox
* VV
* Vaccinia
* Generalized vaccinia
* Eczema vaccinatum
* Progressive vaccinia
* Buffalopox
Para
* Farmyard pox: Milker's nodule
* Bovine papular stomatitis
* Pseudocowpox
* Orf
* Sealpox
Other
* Yatapoxvirus: Tanapox
* Yaba monkey tumor virus
* MCV
* Molluscum contagiosum
Papillomaviridae
HPV
* Wart/plantar wart
* Heck's disease
* Genital wart
* giant
* Laryngeal papillomatosis
* Butcher's wart
* Bowenoid papulosis
* Epidermodysplasia verruciformis
* Verruca plana
* Pigmented wart
* Verrucae palmares et plantares
* BPV
* Equine sarcoid
Parvoviridae
* Parvovirus B19
* Erythema infectiosum
* Reticulocytopenia
* Papular purpuric gloves and socks syndrome
Polyomaviridae
* Merkel cell polyomavirus
* Merkel cell carcinoma
RNA virus
Paramyxoviridae
* MeV
* Measles
Togaviridae
* Rubella virus
* Rubella
* Congenital rubella syndrome ("German measles" )
* Alphavirus infection
* Chikungunya fever
Picornaviridae
* CAV
* Hand, foot, and mouth disease
* Herpangina
* FMDV
* Foot-and-mouth disease
* Boston exanthem disease
Ungrouped
* Asymmetric periflexural exanthem of childhood
* Post-vaccination follicular eruption
* Lipschütz ulcer
* Eruptive pseudoangiomatosis
* Viral-associated trichodysplasia
* Gianotti–Crosti syndrome
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
| Giant condyloma acuminatum | c0276264 | 29,284 | wikipedia | https://en.wikipedia.org/wiki/Giant_condyloma_acuminatum | 2021-01-18T19:02:04 | {"gard": ["9663"], "mesh": ["D062688"], "icd-9": ["078.11"], "icd-10": ["A63.0"], "wikidata": ["Q890167"]} |
Abortion in Croatia has been a regulated medical operation since 1952, subject to various restrictions. According to present law, abortion can be performed as an elective procedure until 10 weeks following conception, and in specific circumstances afterwards.[1]
## Contents
* 1 History
* 2 Procedure
* 3 Statistics
* 4 Public opinion
* 5 References
## History[edit]
Yugoslavia, of which SR Croatia was a part, had legalized the practice in 1952 based on a medical, eugenic or a legal indication. In 1960, a social indication was also allowed.[2] In 1969, a rule that a commission's approval was required for the termination of pregnancies within the first 10 weeks – was rescinded.[3] This series of measures did not reduce the total abortion rate at the time, but maternal morbidity and mortality related to abortion declined significantly.[3]
Based on a provision in the 1974 Yugoslav Constitution,[3] on 21 April 1978, the "Act concerning the medical measures for materialization of the right to freely decide on the birth of children" was passed in SR Croatia.[4] This abortion law was not changed when Croatia achieved independence from Yugoslavia in 1991, although there were proposals by right-wing parties for tightening the conditions for legal abortion.[3][5]
In recent years there is an ongoing debate about right to conscientious objection. Critics say that this rule made abortion hard to obtain in some areas, while the proponents argue that every gynecologist has a constitutional right to refuse performing or taking part in the procedure.[6] In November 2014, Ministry of Health announced it will make abortion available in all public hospitals. In case that all gynecologists declare their conscientious objection (which was the case in 5 public hospitals in 2014), the hospital will have to hire an external associate willing to perform the procedure.[7]
In March 2017, the Constitutional Court of Croatia ruled that the current law which allows abortion on request does not violate the constitution.[8] However, it instructed the Parliament to make a new law in 2 years time, in which preventive and educational measures will be included, aimed at making abortion exceptional.[9]
## Procedure[edit]
Abortions can only be performed by a physician in a hospital with a department of obstetrics or gynaecology, or in another authorized facility. Doctors have the right to conscientious objection. Women under 16 must have parental authorization. Past the first 10 weeks, abortions must be approved by a Commission of First Instance, consisting of a gynaecologist, another physician, and a social worker or registered nurse. The commission can choose to approve the abortion if it is medically necessary to save the woman's life or preserve her health, whether during pregnancy or delivery or after delivery; if the child would likely be born with a serious congenital defect; or when the conception results from a criminal act, including rape and incest. The Commission's decision may be appealed to a Commission of Second Instance, whose decision is final. This procedure does not apply in situations where the woman's life or health is in immediate danger or the abortion has already started.[3][4]
## Statistics[edit]
The number of abortions (and live births) in Croatia between 1960 and 2011.
As of 2010[update], Croatia had 4.7 abortions per 1000 women of childbearing age, lower than in most European countries.[10] The highest percentage of abortion was recorded in the 1980s. In 1989, 49% of all pregnancies ended with an abortion.[11] During the Croatian War of Independence and after it that percentage fell dramatically and still kept falling in the following years.
Conscientious objection accounts for about 70% of physicians according to data from 2006.[12] Right to conscientious objection is granted not only for physicians but also for other medical personnel.[13]
In 2015, there were 2992 recorded legal abortions in Croatia, a sharp decline comparing to 14282 recorded in 1995.[14]
## Public opinion[edit]
A poll from 2008 showed that 50% of respondents do not approve abortion in the case in which a couple does not want more children. That was increased opposition compared to the same poll from 1999 when only 40% opposed.[15] However, this poll was criticized by some for being suggestive.[16]
In 2011, Catholic bishop Valter Župan publicly called for abortion to be banned. In response, Nova TV had an opinion poll conducted, in which 67% of respondents in Croatia said they believe that the current abortion law should not be changed, while 23% supported a ban on abortions. Support for a ban was higher among women, and in the regions Slavonia and Dalmatia.[17]
According to another survey in 2013 which was conducted among 1500 young people in Croatia (in the age between 14 and 27), 38.9% of the respondents said it should be legal, 28.7% said only medically warranted abortions should be allowed, 20.0% were unsure, and 12.4% said that abortion should be completely illegal. At the same time, more than half of the respondents did not advocate sexual abstinence. This discrepancy was likely the result of a confusion among the young people caused by the opinions of the Catholic Church and their own sexual needs that arise well before they are ready to enter marriage.[18]
A survey from 2014 showed that 18% of respondents 'strongly support' the right to abortion and 16.8% 'tend to support'. In the same time, 24.7% said they were 'strongly opposed' and 14.5% 'tend to oppose'. 24.9% said they were indifferent on the issue.[19]
In a Pew Research poll from 2017, 60% of Croatian respondents believed that abortion should be legal in all/most cases, while 37% said it should be illegal in all/most cases.[20]
In 2020, Ipsos Puls agency conducted a poll in which 81% of respondents agreed with the statement that a woman should have a right to choose regarding pregnancies, giving birth or abortions, of which 68% completely agreed and 13% mostly agreed.[21]
## References[edit]
Wikimedia Commons has media related to Abortion in Croatia.
1. ^ https://www.un.org/esa/population/publications/abortion/doc/croati1.doc.
2. ^ Milovan, Vjekoslav (February 1974). "Kršćanska obitelj u današnjem društvu". Renewed Life (in Croatian). Zagreb: Institute of Philosophy and Theology of Society of Jesus. 29 (1): 57. ISSN 0351-3947.
3. ^ a b c d e Abortion Policies: A Global Review (DOC). 1. United Nations Population Division. 2002. Retrieved 7 July 2013.
4. ^ a b "CROATIA. Law No. 1252-1978 of 21 April 1978, Act concerning the medical measures for materialization of the right to freely decide on the birth of children". 21 April 1978. Retrieved 7 July 2013.
5. ^ "Prijepori o pravu na pobačaj u Republici Hrvatskoj" (PDF). Ndgo.hr. Retrieved 2015-05-04.
6. ^ "Zašto je pobačaj u Hrvatskoj legalan, ali teško dostupan? — RTL Televizija". Rtl.hr. Retrieved 2015-05-04.
7. ^ "Ministarstvo šalje naputak: Kako osigurati pravo žena na pobačaj? — RTL Televizija". Rtl.hr. Retrieved 2015-05-04.
8. ^ http://www.vecernji.hr/hrvatska/ustavni-sud-u-11-sati-donosi-odluku-o-pobacaju-1153189
9. ^ https://sljeme.usud.hr/usud/praksaw.nsf/7114c25caa361e3ac1257f340032f11e/c12570d30061ce54c12580d100416faf/$FILE/SA%C5%BDETAK%20RJE%C5%A0ENJA%20BR.%20U-I-60-1991%20i%20dr.pdf
10. ^ "World Abortion Policies 2013". United Nations Department of Economic and Social Affairs Population Division. 2013. Retrieved 5 February 2014.
11. ^ "Historical abortion statistics, Croatia". Johnstonsarchive.net. Retrieved 2015-05-04.
12. ^ Glavina, Diana (2006-07-08). "Prigovor savjesti: Na Svetom Duhu nitko ne želi raditi pobačaje!". Večernji list (in Croatian). Archived from the original on 2010-03-05. Retrieved 2013-07-12.
13. ^ "Kninska primalja Jaga Stojak vraća se na posao". tportal.hr. 2013-08-15. Retrieved 2015-05-04.
14. ^ http://www.jutarnji.hr/vijesti/hrvatska/broj-rodenih-u-2015.-frapirao-i-najvece-pesimiste/4015452/
15. ^ "INFOGRAFIKA: Kojoj vjerskoj zajednici pripadate?". Jutarnji.hr. Retrieved 2015-05-04.
16. ^ "Ne smijemo dopustiti da nam država uđe u krevet — Sa stavom — Libela". Libela.org. 2010-07-26. Retrieved 2015-05-04.
17. ^ "Ekskluzivno istraživanje: Zabranu pobačaja podupiru najviše žene" (in Croatian). Nova TV. 2011-06-09. Retrieved 2013-10-08.
18. ^ Vlasta Ilišin; Dejana Bouillet; Anja Gvozdanović; Dunja Potočnik (2013). Mladi u vremenu krize (PDF) (in Croatian). Institut za društvena istraživanja u Zagrebu, Friedrich Ebert Stiftung – Zagreb. pp. 84–85. ISBN 978-953-6218-51-6. Archived from the original (PDF) on 2013-10-14. Retrieved 2013-07-12.
19. ^ "REFERENDUM O DVOJEZIČNOSTI NE BI PROŠAO Pravo na pobačaj podržava samo 16,8% ispitanih". Jutarnji.hr. 2014-07-22. Retrieved 2015-05-04.
20. ^ http://assets.pewresearch.org/wp-content/uploads/sites/11/2017/05/09154356/Central-and-Eastern-Europe-Topline_FINAL-FOR-PUBLICATION.pdf
21. ^ https://www.telegram.hr/politika-kriminal/prvi-objavljujemo-vazno-istrazivanje-samo-7-posto-gradana-misli-da-zene-nemaju-pravo-na-izbor-kod-pobacaja/amp/
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*[c.]: circa
*[AA]: Adrenergic agonist
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*[nM]: nanomolars
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*[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
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*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
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*[No.]: Number
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*[[*]]: Article is not yet available in this wiki.
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| Abortion in Croatia | None | 29,285 | wikipedia | https://en.wikipedia.org/wiki/Abortion_in_Croatia | 2021-01-18T18:43:58 | {"wikidata": ["Q16960148"]} |
A number sign (#) is used with this entry because it represents a contiguous gene deletion syndrome (chr19:39,803,651-40,127,916, NCBI36).
See also proximal chromosome 19q13.11 deletion syndrome (617219), which shows some phenotypic overlap.
Description
Distal chromosome 19q13.11 deletion syndrome is an autosomal dominant neurodevelopmental disorder characterized by poor overall growth, slender habitus, microcephaly, delayed development, intellectual disability with poor or absent speech, and feeding difficulties. Additional features include dysmorphic facies, signs of ectodermal dysplasia, hand and foot anomalies, and genitourinary anomalies, particularly in males (summary by Chowdhury et al., 2014).
Clinical Features
Kulharya et al. (1998) reported a 3-year-old girl with a constitutional del(19)(q12q13.1) deletion ascertained in utero after intrauterine growth retardation and decreased fetal activity. She was born at 38 weeks' gestation with single umbilical artery, hypotonia, and little subcutaneous fat. Minor facial anomalies included micrognathia, posteriorly angulated and apparently low-set ears, hypertelorism, broad nasal root, and high-arched palate. Other features included cutis aplasia of the posterior fontanel, fifth finger clinodactyly, overlapping toes, and congenital right hip dislocation. She had poor suck and feeding, requiring gastrostomy tube. There was also congenital deafness, cardiomegaly, and increased liver enzymes. At age 3 years, she could not sit on her own and had no speech development.
Using array comparative genomic hybridization (CGH), Malan et al. (2009) identified 3 unrelated patients with syndromic mental retardation associated with interstitial microdeletions involving chromosome 19q13.11. All 3 patients shared common clinical features, including pre- and postnatal growth retardation, slender habitus, severe postnatal feeding difficulties, developmental delay, poor speech development, microcephaly, and hypospadias. Each also had signs of ectodermal dysplasia, such as thin, sparse hair and eyebrows, dysplastic nails, and cutis aplasia over the posterior occiput. Facial dysmorphism included long face, high forehead, retrognathia, thin lips, V-shaped nose with hypoplastic nasal alae, and large ears. More variable features included widely-spaced nipples, long tapered fingers, single-median incisor, and single umbilical artery.
Schuurs-Hoeijmakers et al. (2009) reported another patient with a chromosome 19q13.11 deletion. The male proband was a dizygotic twin, and his twin sister was normal. At birth, the proband was noted to have cutis aplasia over the posterior occiput, hypospadias, abnormal positioning of the feet, and a third nipple on the left side of the chest, the latter of which was also present in the father. He had feeding difficulties, failure to thrive, and psychomotor delay in the first year of life. Dysmorphic features included deep-set eyes, a broad nasal tip, a broad mouth with thin lips, broad gums, irregular placed teeth, and retrognathia. Other features included long fingers with slender thumbs, dysplastic nails, a sacral dimple, and hyperlaxity of the joints. Schuurs-Hoeijmakers et al. (2009) noted the phenotypic similarities to the patients reported by Malan et al. (2009).
Adalat et al. (2010) reported a boy with chromosome 19q13.11 deletion who had growth retardation, pyloric stenosis, intestinal intussusception, and echogenic kidneys with laboratory evidence of renal dysfunction. Other features included microcephaly, poor speech, aplasia cutis, dry skin, clinodactyly, and pes cavus. Dysmorphic features included blepharophimosis, absence of eyelashes on the lower lids, narrow face, narrow nasal bridge, thin lips, short philtrum, posteriorly rotated and protruding ears, and crowded teeth.
Forzano et al. (2012) reported an Italian girl with chromosome 19q13.11 deletion syndrome. She had delayed development, growth retardation, microcephaly, slender habitus, and mild dysmorphic features, as well as thin hair, thin skin, dysplastic nails, and aplasia cutis of the scalp. Additional features included multiple pituitary hormone defects and growth hormone deficiency.
Gana et al. (2012) reported 2 unrelated patients with de novo heterozygous deletions of chromosome 19q13.11. The patients had intrauterine and postnatal growth retardation, microcephaly, and delayed development with intellectual disability and poor or absent speech. Both had dysmorphic features, but these were variable. A 14-year-old boy had narrow face, thick and medially sparse eyebrows, hypertelorism, columella below alae nasi, thin lips, retrognathia, low-set ears with large lobules, and aplasia cutis in the midline of the scalp. An 8-year-old girl had a round face with narrow and upslanting palpebral fissures, thick and medially sparse eyebrows, puffy checks, columella below alae nasi, short philtrum, and thin lips. The boy was severely disabled and wheelchair-bound with dystonic tetraplegia, contractures, and spasmodic oromandibular dystonia causing breathing difficulties. The girl had poor balance with clumsiness, dysdiadochokinesia, and mild hypotonia. Additional features included tapering fingers, fifth finger clinodactyly, hypospadias in the boy, and dental anomalies in the girl.
Chowdhury et al. (2014) reported 2 unrelated patients, a girl and a boy (patients 1 and 2), with 19q13.11 deletion syndrome. The patients had low birth weight, feeding difficulties with poor postnatal growth, and delayed development with speech delay. The boy had single umbilical artery, febrile seizures, hypospadias, cryptorchidism, inguinal hernia, atrial septal defect, and scalp aplasia cutis, without other evidence of ectodermal dysplasia. The girl had dental crowding and caries. The patients also had distal anomalies of the fingers and toes, as well as variable dysmorphic features, such as arched eyebrows, broad nasal bridge, short nose, upturned nares, poorly folded ears, short palpebral fissures, and smooth philtrum.
Venegas-Vega et al. (2014) reported a boy with this disorder. He had poor growth with feeding difficulties, microcephaly, developmental delay with poor speech, dysmorphic facial features, signs of ectodermal dysplasia, genital anomalies, including hypospadias, testicular ectopia, and bifid scrotum, and abnormalities of the fingers and toes. He also had recurrent respiratory infections, a febrile seizure, and bilateral inguinal hernias.
Meyer et al. (2017) reported 10 unrelated patients with a complex neurologic disorder associated with de novo heterozygous microdeletions of chromosome 19q13.11-q13.12. The patients presented with progressive dystonia in the first decade of life (2.5 to 7 years). Features included lower limb involvement with foot posturing, toe walking, and gait disturbance, and all but 1 child developed abnormal posturing in the upper limbs, resulting in decreased dexterity and handwriting difficulties. All but the same patient developed cervical symptoms, including torticollis and retrocollis, as well as severe cranial involvement, including facial dystonia and oromandibular dysfunction resulting in dysarthria, difficulties chewing and swallowing, and laryngeal involvement with dysphonia. Most patients developed generalized dystonia; however, none had compromise of the airways. Three patients treated with deep brain stimulation had a favorable response. Brain imaging showed abnormal signals in the globus pallidi. Six patients had an elongated face and 2 had a bulbous nasal tip; 1 patient had more severe dysmorphic features, including microcephaly, occipital cutis aplasia, low-set and posteriorly rotated ears, epicanthal folds, blepharophimosis, narrow nasal bridge, micrognathia, and dental crowding. Rare features, occurring in only 1 patient each, included retinal dystrophy, ectodermal dysplasia, absence seizures, short stature, absent testis, and small echogenic kidneys. Eight patients had some degree of intellectual disability. The deletions in the patients varied in size, involving 14 to over 100 genes, but the smallest region of overlap among these patients included the KMT2B (606834) and ZBTB32 (605859) genes. The deletion occurred de novo in all cases with parental testing. Meyer et al. (2017) concluded that haploinsufficiency for KMT2B was responsible for the phenotype (see 617284).
Cytogenetics
In a child with syndromic mental retardation and poor growth, Kulharya et al. (1998) identified a 15-cM deletion of 19q12-q13.1 on the paternal chromosome.
By array CGH analysis of 3 unrelated individuals with syndromic mental retardation, Malan et al. (2009) identified interstitial overlapping deletions of chromosome 19q12-q13.12, 19q13.11-q13.12, and 19q12-q13.11, respectively. The minimal critical region corresponded to 2.87 Mb on chromosome 19q13.11. The authors postulated that the phenotype results from haploinsufficiency of dosage-sensitive genes within this region.
In a patient with syndromic mental retardation, Schuurs-Hoeijmakers et al. (2009) identified a de novo 2.4-Mb deletion on chromosome 19q13.11-q13.12. The maternal allele was deleted in the proband; however, the mother carried a chromosome 19 submicroscopic insertion ins(19)(q13.3q13.11q13.12)(q13.11), indicating that recombination during meiosis may have occurred in her son. The smallest region of overlap between this patient and the patients reported by Malan et al. (2009) was 750 kb. Schuurs-Hoeijmakers et al. (2009) hypothesized that the LSM14A (610677) and UBA2 gene may be involved.
The chromosome 19 deletion in the patient reported by Forzano et al. (2012) spanned 1.37 Mb and included 49 genes. It partially overlapped previously reported deletions with the smallest region of overlap (SRO) being 460 kb. The UBA2 gene (613295) was not deleted in this patient.
The chromosome 19 deletions identified in the 2 patients reported by Gana et al. (2012) were 1.7 Mb and 2.63 Mb; the SRO was 324 kb and encompassed several genes, including ZNF302, ZNF181 (606741), ZNF599, and ZNF30. One of the patients with hypospadias had deletion of the WTIP gene (614790).
The de novo chromosome 19 deletions in the 2 patients reported by Chowdhury et al. (2014) were 8.16 Mb and 2.30 Mb and overlapped the 324-kb SRO identified by Gana et al. (2012).
The patient reported by Venegas-Vega et al. (2014) had a de novo chromosomal rearrangement with a 2.49-Mb deletion of 19q13.1 that included 49 genes, including UBA2, which the authors suggested may contribute to the urogenital anomalies as well as to the intellectual disability observed in this disorder.
INHERITANCE \- Autosomal dominant GROWTH Height \- Short stature Weight \- Low weight Other \- Prenatal growth retardation \- Postnatal growth retardation \- Failure to thrive \- Slender habitus HEAD & NECK Head \- Microcephaly Face \- Long face \- High forehead \- Retrognathia \- Micrognathia \- Short philtrum Ears \- Large ears \- Low-set ears Eyes \- Thin, sparse eyebrows \- Thin, sparse eyelashes \- Astigmatism \- Long palpebral fissures \- Short palpebral fissures \- Blepharophimosis \- Ptosis Nose \- V-shaped nasal tip \- Hypoplastic nasal alae \- Low-set columella \- Short nose \- Broad nasal bridge \- Upturned nares Mouth \- Thin lips Teeth \- Hypodontia \- Dental caries CARDIOVASCULAR Heart \- Septal defects Vascular \- Single umbilical artery RESPIRATORY \- Recurrent infections CHEST Breasts \- Widely spaced nipples ABDOMEN Gastrointestinal \- Feeding difficulties GENITOURINARY External Genitalia (Male) \- Hypospadias \- Cryptorchidism \- Testicular ectopia \- Bifid scrotum \- Inguinal hernia External Genitalia (Female) \- Inguinal hernia Kidneys \- Renal tract malformations SKELETAL Hands \- Long, tapering digits \- Fifth finger clinodactyly \- Cutaneous syndactyly Feet \- Cutaneous syndactyly \- Overlapping toes SKIN, NAILS, & HAIR Skin \- Thin, dry skin \- Cutis aplasia, occipital Nails \- Dysplastic nails Hair \- Thin, sparse hair \- Thin, sparse eyebrows \- Thin, sparse eyelashes MUSCLE, SOFT TISSUES \- Little subcutaneous fat NEUROLOGIC Central Nervous System \- Delayed psychomotor development \- Mental retardation \- Little or no speech acquisition \- Febrile seizures (rare) PRENATAL MANIFESTATIONS Delivery \- Pre-term delivery LABORATORY ABNORMALITIES \- Minimal overlapping critical region for deletion 19:39,803,651-40,127,916 (Hg18) MISCELLANEOUS \- Contiguous gene deletion syndrome \- Most deletions occur de novo MOLECULAR BASIS \- Contiguous gene syndrome caused by 324-kb deletion on 19q13.11 ▲ 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
| CHROMOSOME 19q13.11 DELETION SYNDROME, DISTAL | c2751651 | 29,286 | omim | https://www.omim.org/entry/613026 | 2019-09-22T15:59:56 | {"doid": ["0060408"], "mesh": ["C567810"], "omim": ["613026"], "orphanet": ["217346"]} |
Streptococcal pharyngitis
Other namesStreptococcal tonsillitis, streptococcal sore throat, strep
A culture positive case of streptococcal pharyngitis with typical tonsillar exudate in a 16-year-old.
SpecialtyInfectious disease
SymptomsFever, sore throat, large lymph nodes[1]
Usual onset1–3 days after exposure[2][3]
Duration7–10 days[2][3]
CausesGroup A streptococcus[1]
Risk factorsSharing drinks or eating utensils[4]
Diagnostic methodThroat culture, strep test[1]
Differential diagnosisEpiglottitis, infectious mononucleosis, Ludwig's angina, peritonsillar abscess, retropharyngeal abscess, viral pharyngitis[5]
PreventionHandwashing,[1] covering coughs[4]
TreatmentParacetamol (acetaminophen), NSAIDs, antibiotics[1][6]
Frequency5 to 40% of sore throats[7][8]
Streptococcal pharyngitis, also known as strep throat, is an infection of the back of the throat including the tonsils caused by group A streptococcus (GAS).[1] Common symptoms include fever, sore throat, red tonsils, and enlarged lymph nodes in the neck.[1] A headache, and nausea or vomiting may also occur.[1] Some develop a sandpaper-like rash which is known as scarlet fever.[2] Symptoms typically begin one to three days after exposure and last seven to ten days.[2][3]
Strep throat is spread by respiratory droplets from an infected person.[1] It may be spread directly or by touching something that has droplets on it and then touching the mouth, nose, or eyes.[1] Some people may carry the bacteria without symptoms.[1] It may also be spread by skin infected with group A strep.[1] The diagnosis is made based on the results of a rapid antigen detection test or throat culture in those who have symptoms.[9]
Prevention is by washing hands and not sharing eating utensils.[1] There is no vaccine for the disease.[1] Treatment with antibiotics is only recommended in those with a confirmed diagnosis.[9] Those infected should stay away from other people for at least 24 hours after starting treatment.[1] Pain can be treated with paracetamol (acetaminophen) and nonsteroidal anti-inflammatory drugs (NSAIDS) such as ibuprofen.[6]
Strep throat is a common bacterial infection in children.[2] It is the cause of 15–40% of sore throats among children[7][10] and 5–15% among adults.[8] Cases are more common in late winter and early spring.[10] Potential complications include rheumatic fever and peritonsillar abscess.[1][2]
## Contents
* 1 Signs and symptoms
* 2 Cause
* 3 Diagnosis
* 3.1 Laboratory testing
* 3.2 Differential diagnosis
* 4 Prevention
* 5 Treatment
* 5.1 Pain medication
* 5.2 Antibiotics
* 6 Prognosis
* 7 Epidemiology
* 8 References
* 9 External links
## Signs and symptoms
The typical signs and symptoms of streptococcal pharyngitis are a sore throat, fever of greater than 38 °C (100 °F), tonsillar exudates (pus on the tonsils), and large cervical lymph nodes.[10]
Other symptoms include: headache, nausea and vomiting, abdominal pain,[11] muscle pain,[12] or a scarlatiniform rash or palatal petechiae, the latter being an uncommon but highly specific finding.[10]
Symptoms typically begin one to three days after exposure and last seven to ten days.[3][10]
Strep throat is unlikely when any of the symptoms of red eyes, hoarseness, runny nose, or mouth ulcers are present. It is also unlikely when there is no fever.[8]
* Mouth wide open showing the throat
A throat infection which on culture tested positive for group A streptococcus. Note the large tonsils with white exudate.
* Mouth wide open showing the throat
Note the petechiae, or small red spots, on the soft palate. This is an uncommon but highly specific finding in streptococcal pharyngitis.[10]
* A set of large tonsils in the back of the throat, covered in white exudate.
A culture positive case of streptococcal pharyngitis with typical tonsillar exudate in an 8-year-old.
## Cause
Strep throat is caused by group A β-hemolytic Streptococcus (GAS or S. pyogenes).[13] Humans are the only known natural reservoir for group A streptococcus.[14] Other bacteria such as non–group A β-hemolytic streptococci and fusobacterium may also cause pharyngitis.[10][12] It is spread by direct, close contact with an infected person; thus crowding, as may be found in the military and schools, increases the rate of transmission.[12][15] Dried bacteria in dust are not infectious, although moist bacteria on toothbrushes or similar items can persist for up to fifteen days.[12] Contaminated food can result in outbreaks, but this is rare.[12] Of children with no signs or symptoms, 12% carry GAS in their pharynx,[7] and, after treatment, approximately 15% of those remain positive, and are true "carriers".[16]
## Diagnosis
Modified Centor score Points Probability of Strep Management
1 or fewer <10% No antibiotic or culture needed
2 11–17% Antibiotic based on culture or RADT
3 28–35%
4 or 5 52% Empiric antibiotics
A number of scoring systems exist to help with diagnosis; however, their use is controversial due to insufficient accuracy.[17] The modified Centor criteria are a set of five criteria; the total score indicates the probability of a streptococcal infection.[10]
One point is given for each of the criteria:[10]
* Absence of a cough
* Swollen and tender cervical lymph nodes
* Temperature >38.0 °C (100.4 °F)
* Tonsillar exudate or swelling
* Age less than 15 (a point is subtracted if age >44)
A score of one may indicate no treatment or culture is needed or it may indicate the need to perform further testing if other high risk factors exist, such as a family member having the disease.[10]
The Infectious Disease Society of America recommends against routine antibiotic treatment and considers antibiotics only appropriate when given after a positive test.[8] Testing is not needed in children under three as both group A strep and rheumatic fever are rare, unless a child has a sibling with the disease.[8]
### Laboratory testing
A throat culture is the gold standard[18] for the diagnosis of streptococcal pharyngitis, with a sensitivity of 90–95%.[10] A rapid strep test (also called rapid antigen detection testing or RADT) may also be used. While the rapid strep test is quicker, it has a lower sensitivity (70%) and statistically equal specificity (98%) as a throat culture.[10] In areas of the world where rheumatic fever is uncommon, a negative rapid strep test is sufficient to rule out the disease.[19]
A positive throat culture or RADT in association with symptoms establishes a positive diagnosis in those in which the diagnosis is in doubt.[20] In adults, a negative RADT is sufficient to rule out the diagnosis. However, in children a throat culture is recommended to confirm the result.[8] Asymptomatic individuals should not be routinely tested with a throat culture or RADT because a certain percentage of the population persistently "carries" the streptococcal bacteria in their throat without any harmful results.[20]
### Differential diagnosis
See also: Acute pharyngitis
As the symptoms of streptococcal pharyngitis overlap with other conditions, it can be difficult to make the diagnosis clinically.[10] Coughing, nasal discharge, diarrhea, and red, irritated eyes in addition to fever and sore throat are more indicative of a viral sore throat than of strep throat.[10] The presence of marked lymph node enlargement along with sore throat, fever, and tonsillar enlargement may also occur in infectious mononucleosis.[21] Other conditions that may present similarly include epiglottitis, Kawasaki disease, acute retroviral syndrome, Lemierre's syndrome, Ludwig's angina, peritonsillar abscess, and retropharyngeal abscess.[5]
## Prevention
Tonsillectomy may be a reasonable preventive measure in those with frequent throat infections (more than three a year).[22] However, the benefits are small and episodes typically lessen in time regardless of measures taken.[23][24][25] Recurrent episodes of pharyngitis which test positive for GAS may also represent a person who is a chronic carrier of GAS who is getting recurrent viral infections.[8] Treating people who have been exposed but who are without symptoms is not recommended.[8] Treating people who are carriers of GAS is not recommended as the risk of spread and complications is low.[8]
## Treatment
Untreated streptococcal pharyngitis usually resolves within a few days.[10] Treatment with antibiotics shortens the duration of the acute illness by about 16 hours.[10] The primary reason for treatment with antibiotics is to reduce the risk of complications such as rheumatic fever and retropharyngeal abscesses.[10] Antibiotics prevent acute rheumatic fever if given within 9 days of the onset of symptoms.[13]
### Pain medication
Pain medication such as NSAIDs and paracetamol (acetaminophen) helps in the management of pain associated with strep throat.[26] Viscous lidocaine may also be useful.[27] While steroids may help with the pain,[13][28] they are not routinely recommended.[8] Aspirin may be used in adults but is not recommended in children due to the risk of Reye syndrome.[13]
### Antibiotics
The antibiotic of choice in the United States for streptococcal pharyngitis is penicillin V, due to safety, cost, and effectiveness.[10] Amoxicillin is preferred in Europe.[29] In India, where the risk of rheumatic fever is higher, intramuscular benzathine penicillin G is the first choice for treatment.[13]
Appropriate antibiotics decrease the average 3–5 day duration of symptoms by about one day, and also reduce contagiousness.[20] They are primarily prescribed to reduce rare complications such as rheumatic fever and peritonsillar abscess.[30] The arguments in favor of antibiotic treatment should be balanced by the consideration of possible side effects,[12] and it is reasonable to suggest that no antimicrobial treatment be given to healthy adults who have adverse reactions to medication or those at low risk of complications.[30][31] Antibiotics are prescribed for strep throat at a higher rate than would be expected from how common it is.[32]
Erythromycin and other macrolides or clindamycin are recommended for people with severe penicillin allergies.[10][8] First-generation cephalosporins may be used in those with less severe allergies[10] and some evidence supports cephalosporins as superior to penicillin.[33][34] These late-generation antibiotics show a similar effect when prescribed for 3–7 days in comparison to the standard 10-days of penicillin when used in areas of low rheumatic heart disease.[35] Streptococcal infections may also lead to acute glomerulonephritis; however, the incidence of this side effect is not reduced by the use of antibiotics.[13]
## Prognosis
The symptoms of strep throat usually improve within three to five days, irrespective of treatment.[20] Treatment with antibiotics reduces the risk of complications and transmission; children may return to school 24 hours after antibiotics are administered.[10] The risk of complications in adults is low.[8] In children, acute rheumatic fever is rare in most of the developed world. It is, however, the leading cause of acquired heart disease in India, sub-Saharan Africa, and some parts of Australia.[8]
Complications arising from streptococcal throat infections include:
* Acute rheumatic fever[11]
* Scarlet fever[36]
* Streptococcal toxic shock syndrome[36][37]
* Glomerulonephritis[38]
* PANDAS syndrome[39][40][41]
* Peritonsillar abscess[8]
* Cervical lymphadenitis[8]
* Mastoiditis[8]
The economic cost of the disease in the United States in children is approximately $350 million annually.[8]
## Epidemiology
Pharyngitis, the broader category into which Streptococcal pharyngitis falls, is diagnosed in 11 million people annually in the United States.[10] It is the cause of 15–40% of sore throats among children[7][10] and 5–15% in adults.[8] Cases usually occur in late winter and early spring.[10]
## References
1. ^ a b c d e f g h i j k l m n o p "Is It Strep Throat?". CDC. October 19, 2015. Archived from the original on 2 February 2016. Retrieved 2 February 2016.
2. ^ a b c d e f Török, edited by David A. Warrell, Timothy M. Cox, John D. Firth; with guest ed. Estée (2012). Oxford textbook of medicine infection. Oxford: Oxford University Press. pp. 280–281. ISBN 9780191631733. Archived from the original on 2016-10-10.CS1 maint: extra text: authors list (link)
3. ^ a b c d Jr, [edited by] Allan H. Goroll, Albert G. Mulley (2009). Primary care medicine : office evaluation and management of the adult patient (6th ed.). Philadelphia: Wolters Kluwer Health/Lippincott Williams & Wilkins. p. 1408. ISBN 9780781775137. Archived from the original on 2016-09-15.CS1 maint: extra text: authors list (link)
4. ^ a b "Strep throat - Symptoms and causes". Mayo Clinic. Retrieved 24 January 2020.
5. ^ a b Gottlieb, M; Long, B; Koyfman, A (May 2018). "Clinical Mimics: An Emergency Medicine-Focused Review of Streptococcal Pharyngitis Mimics". The Journal of Emergency Medicine. 54 (5): 619–629. doi:10.1016/j.jemermed.2018.01.031. PMID 29523424.
6. ^ a b Weber, R (March 2014). "Pharyngitis". Primary Care. 41 (1): 91–8. doi:10.1016/j.pop.2013.10.010. PMC 7119355. PMID 24439883.
7. ^ a b c d Shaikh N, Leonard E, Martin JM (September 2010). "Prevalence of streptococcal pharyngitis and streptococcal carriage in children: a meta-analysis". Pediatrics. 126 (3): e557–64. doi:10.1542/peds.2009-2648. PMID 20696723. S2CID 8625679.
8. ^ a b c d e f g h i j k l m n o p q r Shulman, ST; Bisno, AL; Clegg, HW; Gerber, MA; Kaplan, EL; Lee, G; Martin, JM; Van Beneden, C (Sep 9, 2012). "Clinical Practice Guideline for the Diagnosis and Management of Group A Streptococcal Pharyngitis: 2012 Update by the Infectious Diseases Society of America". Clinical Infectious Diseases. 55 (10): e86–102. doi:10.1093/cid/cis629. PMC 7108032. PMID 22965026.
9. ^ a b Harris, AM; Hicks, LA; Qaseem, A (19 January 2016). "Appropriate Antibiotic Use for Acute Respiratory Tract Infection in Adults: Advice for High-Value Care From the American College of Physicians and the Centers for Disease Control and Prevention". Annals of Internal Medicine. 164 (6): 425–34. doi:10.7326/M15-1840. PMID 26785402.
10. ^ a b c d e f g h i j k l m n o p q r s t u v w x Choby BA (March 2009). "Diagnosis and treatment of streptococcal pharyngitis". Am Fam Physician. 79 (5): 383–90. PMID 19275067. Archived from the original on 2015-02-08.
11. ^ a b Brook I, Dohar JE (December 2006). "Management of group A beta-hemolytic streptococcal pharyngotonsillitis in children". J Fam Pract. 55 (12): S1–11, quiz S12. PMID 17137534.
12. ^ a b c d e f Hayes CS, Williamson H (April 2001). "Management of Group A beta-hemolytic streptococcal pharyngitis". Am Fam Physician. 63 (8): 1557–64. PMID 11327431. Archived from the original on 2008-05-16.
13. ^ a b c d e f Baltimore RS (February 2010). "Re-evaluation of antibiotic treatment of streptococcal pharyngitis". Curr. Opin. Pediatr. 22 (1): 77–82. doi:10.1097/MOP.0b013e32833502e7. PMID 19996970. S2CID 13141765.
14. ^ "Group A Strep". U. S. Centers for Disease Control and Prevention. U. S. Department of Health & Human Services. 2019-04-19. Archived from the original on 2020-10-27. Retrieved 2020-10-27.
15. ^ Lindbaek M, Høiby EA, Lermark G, Steinsholt IM, Hjortdahl P (2004). "Predictors for spread of clinical group A streptococcal tonsillitis within the household". Scand J Prim Health Care. 22 (4): 239–43. doi:10.1080/02813430410006729. PMID 15765640.
16. ^ Rakel, edited by Robert E. Rakel, David P. (2011). Textbook of family medicine (8th ed.). Philadelphia, PA.: Elsevier Saunders. p. 331. ISBN 9781437711608. Archived from the original on 2017-09-08.CS1 maint: extra text: authors list (link)
17. ^ Cohen, JF; Cohen, R; Levy, C; Thollot, F; Benani, M; Bidet, P; Chalumeau, M (6 January 2015). "Selective testing strategies for diagnosing group A streptococcal infection in children with pharyngitis: a systematic review and prospective multicentre external validation study". Canadian Medical Association Journal. 187 (1): 23–32. doi:10.1503/cmaj.140772. PMC 4284164. PMID 25487666.
18. ^ Smith, Ellen Reid; Kahan, Scott; Miller, Redonda G. (2008). In A Page Signs & Symptoms. In a Page Series. Hagerstown, Maryland: Lippincott Williams & Wilkins. p. 312. ISBN 978-0-7817-7043-9.
19. ^ Lean, WL; Arnup, S; Danchin, M; Steer, AC (October 2014). "Rapid diagnostic tests for group A streptococcal pharyngitis: a meta-analysis". Pediatrics. 134 (4): 771–81. doi:10.1542/peds.2014-1094. PMID 25201792. S2CID 15909263.
20. ^ a b c d Bisno AL, Gerber MA, Gwaltney JM, Kaplan EL, Schwartz RH (July 2002). "Practice guidelines for the diagnosis and management of group A streptococcal pharyngitis. Infectious Diseases Society of America" (PDF). Clin. Infect. Dis. 35 (2): 113–25. doi:10.1086/340949. PMID 12087516.
21. ^ Ebell MH (2004). "Epstein-Barr virus infectious mononucleosis". Am Fam Physician. 70 (7): 1279–87. PMID 15508538. Archived from the original on 2008-07-24.
22. ^ Johnson BC, Alvi A (March 2003). "Cost-effective workup for tonsillitis. Testing, treatment, and potential complications". Postgrad Med. 113 (3): 115–8, 121. doi:10.3810/pgm.2003.03.1391. PMID 12647478. S2CID 33329630.
23. ^ van Staaij BK, van den Akker EH, van der Heijden GJ, Schilder AG, Hoes AW (January 2005). "Adenotonsillectomy for upper respiratory infections: evidence based?". Archives of Disease in Childhood. 90 (1): 19–25. doi:10.1136/adc.2003.047530. PMC 1720065. PMID 15613505.
24. ^ Burton, MJ; Glasziou, PP; Chong, LY; Venekamp, RP (19 November 2014). "Tonsillectomy or adenotonsillectomy versus non-surgical treatment for chronic/recurrent acute tonsillitis" (PDF). The Cochrane Database of Systematic Reviews (11): CD001802. doi:10.1002/14651858.CD001802.pub3. PMC 7075105. PMID 25407135.
25. ^ Morad, Anna; Sathe, Nila A.; Francis, David O.; McPheeters, Melissa L.; Chinnadurai, Sivakumar (17 January 2017). "Tonsillectomy Versus Watchful Waiting for Recurrent Throat Infection: A Systematic Review". Pediatrics. 139 (2): e20163490. doi:10.1542/peds.2016-3490. ISSN 0031-4005. PMC 5260157. PMID 28096515. Archived from the original on 13 August 2017.
26. ^ Thomas M, Del Mar C, Glasziou P (October 2000). "How effective are treatments other than antibiotics for acute sore throat?". Br J Gen Pract. 50 (459): 817–20. PMC 1313826. PMID 11127175.
27. ^ "Generic Name: Lidocaine Viscous (Xylocaine Viscous) side effects, medical uses, and drug interactions". MedicineNet.com. Archived from the original on 2010-04-08. Retrieved 2010-05-07.
28. ^ Wing, A; Villa-Roel, C; Yeh, B; Eskin, B; Buckingham, J; Rowe, BH (May 2010). "Effectiveness of corticosteroid treatment in acute pharyngitis: a systematic review of the literature". Academic Emergency Medicine. 17 (5): 476–83. doi:10.1111/j.1553-2712.2010.00723.x. PMID 20536799. S2CID 24555114.
29. ^ Bonsignori F, Chiappini E, De Martino M (2010). "The infections of the upper respiratory tract in children". Int J Immunopathol Pharmacol. 23 (1 Suppl): 16–9. PMID 20152073.
30. ^ a b Snow V, Mottur-Pilson C, Cooper RJ, Hoffman JR (March 2001). "Principles of appropriate antibiotic use for acute pharyngitis in adults". Ann Intern Med. 134 (6): 506–8. doi:10.7326/0003-4819-134-6-200103200-00018. PMID 11255529. S2CID 35082591.[needs update?]
31. ^ Hildreth, AF; Takhar, S; Clark, MA; Hatten, B (September 2015). "Evidence-Based Evaluation And Management Of Patients With Pharyngitis In The Emergency Department". Emergency Medicine Practice. 17 (9): 1–16, quiz 16–7. PMID 26276908.
32. ^ Linder JA, Bates DW, Lee GM, Finkelstein JA (November 2005). "Antibiotic treatment of children with sore throat". J Am Med Assoc. 294 (18): 2315–22. doi:10.1001/jama.294.18.2315. PMID 16278359.
33. ^ Pichichero, M; Casey, J (June 2006). "Comparison of European and U.S. results for cephalosporin versus penicillin treatment of group A streptococcal tonsillopharyngitis". European Journal of Clinical Microbiology & Infectious Diseases. 25 (6): 354–64. doi:10.1007/s10096-006-0154-7. PMID 16767482. S2CID 839362.
34. ^ van Driel, ML; De Sutter, AI; Habraken, H; Thorning, S; Christiaens, T (11 September 2016). "Different antibiotic treatments for group A streptococcal pharyngitis". The Cochrane Database of Systematic Reviews. 9: CD004406. doi:10.1002/14651858.CD004406.pub4. PMC 6457741. PMID 27614728.
35. ^ Altamimi, Saleh; Khalil, Adli; Khalaiwi, Khalid A; Milner, Ruth A; Pusic, Martin V; Al Othman, Mohammed A (15 August 2012). "Short-term late-generation antibiotics versus longer term penicillin for acute streptococcal pharyngitis in children". Cochrane Database of Systematic Reviews (8): CD004872. doi:10.1002/14651858.CD004872.pub3. PMID 22895944.
36. ^ a b "UpToDate Inc". Archived from the original on 2008-12-08.
37. ^ Stevens DL, Tanner MH, Winship J, et al. (July 1989). "Severe group A streptococcal infections associated with a toxic shock-like syndrome and scarlet fever toxin A". N. Engl. J. Med. 321 (1): 1–7. doi:10.1056/NEJM198907063210101. PMID 2659990.
38. ^ Hahn RG, Knox LM, Forman TA (May 2005). "Evaluation of poststreptococcal illness". Am Fam Physician. 71 (10): 1949–54. PMID 15926411.
39. ^ Dale RC (December 2017). "Tics and Tourette: a clinical, pathophysiological and etiological review". Curr Opin Pediatr (Review). 29 (6): 665–673. doi:10.1097/MOP.0000000000000546. PMID 28915150. S2CID 13654194.
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41. ^ Zibordi F, Zorzi G, Carecchio M, Nardocci N (March 2018). "CANS: Childhood acute neuropsychiatric syndromes". Eur J Paediatr Neurol (Review). 22 (2): 316–320. doi:10.1016/j.ejpn.2018.01.011. PMID 29398245.
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Classification
D
* ICD-10: J02.0
* ICD-9-CM: 034.0
* DiseasesDB: 12507
External resources
* MedlinePlus: 000639
* eMedicine: med/1811
* v
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Empyema/pyothorax
Malignant
Fibrothorax
Mediastinal disease
* Mediastinitis
* Mediastinal emphysema
Other/general
* Respiratory failure
* Influenza
* Common cold
* SARS
* Coronavirus disease 2019
* Idiopathic pulmonary haemosiderosis
* Pulmonary alveolar proteinosis
*[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
| Streptococcal pharyngitis | c0036689 | 29,287 | wikipedia | https://en.wikipedia.org/wiki/Streptococcal_pharyngitis | 2021-01-18T18:36:57 | {"icd-9": ["034.0"], "icd-10": ["J02.0"], "wikidata": ["Q840143"]} |
A number sign (#) is used with this entry because of evidence that short-rib thoracic dysplasia-7 with or without polydactyly (SRTD7) is caused by homozygous or compound heterozygous mutation in the WDR35 gene (613602) on chromosome 2p24. There is also evidence of digenic inheritance.
Description
Short-rib thoracic dysplasia (SRTD) with or without polydactyly refers to a group of autosomal recessive skeletal ciliopathies that are characterized by a constricted thoracic cage, short ribs, shortened tubular bones, and a 'trident' appearance of the acetabular roof. SRTD encompasses Ellis-van Creveld syndrome (EVC) and the disorders previously designated as Jeune syndrome or asphyxiating thoracic dystrophy (ATD), short rib-polydactyly syndrome (SRPS), and Mainzer-Saldino syndrome (MZSDS). Polydactyly is variably present, and there is phenotypic overlap in the various forms of SRTDs, which differ by visceral malformation and metaphyseal appearance. Nonskeletal involvement can include cleft lip/palate as well as anomalies of major organs such as the brain, eye, heart, kidneys, liver, pancreas, intestines, and genitalia. Some forms of SRTD are lethal in the neonatal period due to respiratory insufficiency secondary to a severely restricted thoracic cage, whereas others are compatible with life (summary by Huber and Cormier-Daire, 2012 and Schmidts et al., 2013).
There is phenotypic overlap with the cranioectodermal dysplasias (Sensenbrenner syndrome; see CED1, 218330).
For a discussion of genetic heterogeneity of short-rib thoracic dysplasia, see SRTD1 (208500).
Clinical Features
Kannu et al. (2007) reported a New Zealand family of Maori descent with 2 consecutive pregnancies complicated by an 'unclassifiable' short rib polydactyly syndrome that was most similar to SRPS type III (SRTD3; 613091) but was associated with acromesomelic hypomineralization and campomelia. The sibs exhibited several additional hallmarks of ciliopathic disease, including polysyndactyly, laterality defects, and cystic kidneys.
Mill et al. (2011) reported a fetus with an SRPS phenotype associated with extreme micromelia, postaxial polydactyly, and facial abnormalities.
Caparros-Martin et al. (2015) studied 5 patients from 3 unrelated families with short ribs, mesomelic shortening of limbs, and tooth and nail dysplasia, who exhibited features characteristic of EVC, including postaxial polydactyly of all limbs, absence of upper mucobuccal fold, and multiple oral frenula, as well as some findings more commonly seen in CED, including dolichocephaly in 2 patients and renal failure and hepatic failure in 2 other patients. However, the authors noted that these patients did not show the distinctive facial appearance of CED, and designated the clinical diagnosis as 'a new form of EVC.'
Duran et al. (2017) reported 3 sibs and an unrelated female infant with an unusual form of SRPS that included bent ribs and long bones, and undermineralization of the calvarium. The sibs exhibited short ribs, short limbs, bilateral postaxial polydactyly of the hands and feet with aphalangia of the hands, and bending of humeri, radii, and ulnae. Other significant findings included echogenic kidneys and bowel, scalp edema,and cystic hygroma. The unrelated female infant was diagnosed with SRPS prenatally and died 1 week after birth. Radiographic findings included micromelia, small thorax with short and bent ribs, pelvis with flat acetabular roofs, and bending of distal long bones. Other features included skin edema and ascites. She did not have polydactyly.
Mapping
In 2 sibs with a severe form of short-rib thoracic dysplasia, previously reported by Kannu et al. (2007), Mill et al. (2011) mapped the disease locus to a 5.5-Mb region on chromosome 2p24.
Molecular Genetics
In 2 sibs with short-rib thoracic dysplasia-7, previously reported by Kannu et al. (2007), Mill et al. (2011) identified a homozygous deletion mutation in the WDR35 gene (613602.0005). In an unrelated fetus with SRTD7, they identified compound heterozygosity for a nonsense and a missense mutation in the WDR35 gene (613602.0006-613602.0007).
In 2 brothers, born of consanguineous parents from Reunion Island, with a clinical diagnosis of EVC but without mutation in the EVC (604831) and EVC2 (607261) genes, Caparros-Martin et al. (2015) performed whole-exome sequencing and identified homozygosity for a splice site mutation in the WDR35 gene (613602.0011). Their first-cousin parents were heterozygous for the mutation, which was not found in an unaffected brother or in public variant databases. Screening of the WDR35 gene in a panel of 10 probands, who were diagnosed with EVC but in whom no mutation in the EVC and EVC2 genes had been found, identified 2 more probands with biallelic mutations in WDR35, including an Italian boy with an affected sister, and an Egyptian girl. Functional analysis revealed that all 4 of the WDR35 variants affected splicing.
In 3 sibs and an unrelated female infant with an unusual form of SRPS involving bent ribs and long bones as well as undermineralization of the skull, Duran et al. (2017) performed exome analysis and in each family identified compound heterozygosity for a missense mutation and a truncating mutation in the WDR35 gene (see, e.g., 613602.0013 and 613602.0014). Noting the similarity of phenotypes between these patients and SRPS patients with mutations in the IFT43 gene (614068; see SRTD18, 617866), Duran et al. (2017) analyzed cultured chondrocytes from the SRTD7 patients and observed decreased IFT43 levels.
### Short-Rib Thoracic Dysplasia 7/20 with Polydactyly
In a male infant (R04-176A) with SRTD and polydactyly, Toriyama et al. (2016) identified double heterozygosity for a W311L mutation in the WDR35 gene (613602.0013) and a truncating mutation in the INTU gene (Q276X; 610621.0003). The patient died in the neonatal period.
INHERITANCE \- Autosomal recessive GROWTH Height \- Short stature HEAD & NECK Head \- Dolichocephaly \- Scalp edema Eyes \- Sparse to absent eyebrows \- Epicanthal folds Mouth \- Cleft palate, posterior \- High-arched palate \- Accessory labial frenula \- Labiogingival frenulum hypertrophy \- Short lingual frenulum \- Absence of upper mucobuccal fold \- Serrated alveolar ridge \- Bifid tip of tongue \- Short uvula Teeth \- Small teeth \- Missing teeth \- Hypoplastic enamel \- Fused teeth Neck \- Cystic hygroma RESPIRATORY Lung \- Hypoplastic lungs CHEST External Features \- Narrow chest Ribs Sternum Clavicles & Scapulae \- Markedly shortened ribs \- Hypoplastic scapulae ABDOMEN External Features \- Ascites Liver \- Hepatic fibrosis Pancreas \- Pancreatic dysgenesis Spleen \- Splenic dysgenesis Gastrointestinal \- Gastrointestinal malrotation GENITOURINARY External Genitalia (Male) \- Hypospadias, mild Kidneys \- Polycystic kidneys \- Glomerular cysts \- Tubular cysts \- Hypoplastic kidneys \- Chronic renal dysfunction/failure SKELETAL Pelvis \- Flat acetabular roofs Limbs \- Absent ossification of radii, ulnae, tibiae, and fibulae \- Short long bones \- Bowed long bones \- Micromelia \- Mesomelia Hands \- Postaxial polydactyly \- Syndactyly \- Brachydactyly \- Hypoplastic distal phalanges Feet \- Postaxial polydactyly \- Syndactyly \- Absent ossification of middle and distal phalanges SKIN, NAILS, & HAIR Skin \- Skin edema Nails \- Dysplastic nails Hair \- Sparse hair \- Fine hair PRENATAL MANIFESTATIONS \- Hydrops fetalis MISCELLANEOUS \- Variable severity of phenotype (some patients have survived beyond 5 years) MOLECULAR BASIS \- Caused by mutation in the WD repeat-containing protein-35 gene (WDR35, 613602.0005 ) ▲ 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
| SHORT-RIB THORACIC DYSPLASIA 7 WITH OR WITHOUT POLYDACTYLY | c0432197 | 29,288 | omim | https://www.omim.org/entry/614091 | 2019-09-22T15:56:31 | {"doid": ["0110090"], "mesh": ["C537602"], "omim": ["614091"], "orphanet": ["93271", "498497"], "synonyms": ["Alternative titles", "SHORT RIB-POLYDACTYLY SYNDROME, TYPE V"]} |
## Description
Angiotensin I-converting enzyme (EC 3.4.15.1), or kininase II, is a dipeptidyl carboxypeptidase that plays an important role in blood pressure regulation and electrolyte balance by hydrolyzing angiotensin I into angiotensin II, a potent vasopressor, and aldosterone-stimulating peptide. The enzyme is also able to inactivate bradykinin, a potent vasodilator.
Cloning and Expression
Ehlers et al. (1989) determined the cDNA sequence for human testicular ACE. The predicted protein is identical, from residue 37 to its C terminus, to the second half or C-terminal domain of the endothelial ACE sequence. The inferred protein sequence consists of a 732-residue preprotein including a 31-residue signal peptide. The mature polypeptide has a molecular weight of 80,073.
Although angiotensin-converting enzyme has been studied primarily in the context of its role in blood pressure regulation, this widely distributed enzyme has many other physiologic functions. The ACE gene encodes 2 isozymes. The somatic ACE isozyme is expressed in many tissues, including vascular endothelial cells, renal epithelial cells, and testicular Leydig cells, whereas the testicular or germinal ACE isozyme is expressed only in sperm (Ramaraj et al., 1998).
By quantitative RT-PCR, Harmer et al. (2002) found ACE1 expressed in all 72 tissues examined. Expression was particularly high in ileum, jejunum, duodenum, testis, lung, pulmonary blood vessels, and prostate.
Gene Structure
Howard et al. (1990) found that the testis-specific form of ACE has its own promoter within intron 12, is encoded by the 3-prime region of the gene, and is found only in postmeiotic spermatogenic cells and sperm.
Biochemical Features
Brown et al. (1996) found an association between the use of certain ACE inhibitors (lisinopril or enalapril vs captopril) and emergent angioedema in the African American population of Tennessee. The adjusted relative risk of angioedema was 4.5 (95% CI, 2.9-6.8) in blacks compared to whites. The African American patients were more severely affected: 7 of the 8 patients admitted to the intensive care unit were black, as were all patients who required intubation. African American users of ACE inhibitors tended to be younger and female when compared to their white counterparts. The rate of angioedema was highest within the first 30 days of use (5.79 per 1,000 patient-years) compared to long-term use (1.04 per 1,000 patient-years).
Large-scale trials of therapy for heart failure showed improvements in outcome with ACE inhibitors and beta-blockers. These results led to the recommendation that all patients who have heart failure accompanied by a low ejection fraction and who can tolerate ACE inhibitors and beta-blockers should be treated with both agents. Exner et al. (2001) focused on the fact that black patients with heart failure have a poorer prognosis than white patients and performed a study comparing racial groups. They found that whereas therapy with enalapril is associated with significant reduction in the risk of hospitalization for heart failure among white patients with left ventricular function, it had no such effect in similar black patients. The explanation for the lesser response to the ACE inhibitor in black patients was not clear.
Use of ACE inhibitors during the second and third trimesters of pregnancy is contraindicated because of their association with an increased risk of fetopathy. In contrast, first-trimester use of ACE inhibitors had not been linked to adverse fetal outcomes. From a study of association between exposure to ACE inhibitors during the first trimester of pregnancy only and the risk of congenital malformations, Cooper et al. (2006) concluded that ACE inhibitors at that stage also cannot be considered safe and should be avoided.
### Crystal Structure
Natesh et al. (2003) presented the x-ray structure of human testicular ACE and its complex with one of the most widely used inhibitors, lisinopril, at 2.0-angstrom resolution. Analysis of the 3-dimensional structure of ACE shows that it bears little similarity to that of carboxypeptidase A (see 114850), but instead resembles neurolysin (611530) and Pyrococcus furiosus carboxypeptidase, zinc metallopeptidases with no detectable sequence similarity to ACE.
Gene Function
ACE is an integral membrane protein that is proteolytically shed from the cell surface by a zinc metallosecretase. Alfalah et al. (2001) found that mutagenesis of asn631 to gln in the juxtamembrane stalk region of ACE did not affect the enzymatic activity of the protein, but it was more efficiently cleaved and secreted into the medium of transfected cells than wildtype ACE. In contrast to wildtype ACE, which is cleaved between asn638 and ser639 at the cell surface by a metalloprotease, the mutant protein was cleaved between asn635 and ser636 by a serine proteinase within the endoplasmic reticulum.
Hu et al. (1999) demonstrated an association between the ACE I/D polymorphism (106180.0001) and Alzheimer disease (AD; 104300) in the Japanese population. Hu et al. (2001) found that purified ACE inhibited aggregation of amyloid-beta peptide (A-beta) in a dose-dependent manner. Inhibition of A-beta aggregation was specifically blocked by an ACE inhibitor. ACE also significantly inhibited A-beta cytotoxicity in a rat neural precursor cell line. ACE degraded A-beta by cleaving the 40-amino acid peptide between asp7 and ser8. Compared with the 40-amino acid A-beta peptide, the degradation products, A-beta(1-7) and A-beta(8-40), showed reduced aggregation and cytotoxic effects. Hu et al. (2001) concluded that ACE alters susceptibility to AD by degrading A-beta and preventing accumulation of amyloid plaques in vivo.
In testicular germ cells, Kondoh et al. (2005) identified ACE as the glycosylphosphatidylinositol (GPI)-anchored protein-releasing (GPIase) factor. ACE GPIase activity was not inactivated by substitutions of core amino acid residues for peptidase activity, suggesting that the active site elements for GPIase differ from those for peptidase activity; analysis of the released products predicted the cleavage site at the mannose-mannose linkage within the GPI moiety. GPI-anchored proteins were released from the sperm membrane of wildtype mice but not in Ace-knockout sperm in vivo; peptidase-inactivated mutant ACE and bacterial phosphatidylinositol-specific phospholipase rescued the egg-binding deficiency of Ace-knockout sperm. Kondoh et al. (2005) concluded that ACE plays a crucial role in fertilization through its GPIase activity.
Mapping
Mattei et al. (1989) assigned the ACE gene to 17q23 by in situ hybridization. Using a DNA marker at the growth hormone gene locus (139250), which they characterized as 'extremely polymorphic' and which showed no recombination with ACE, Jeunemaitre et al. (1992) mapped ACE to 17q22-q24, consistent with the in situ hybridization mapping to 17q23. A demonstration of linkage between the ACE locus and elevated blood pressure in a rat model of hypertension (see 145500) pointed to ACE as a candidate gene in human hypertension. In studies of hypertensive families, they found no evidence to support linkage between the ACE locus and the disease, however. Using affected sib-pair analysis and parametric analysis with ascertainment correction, Julier et al. (1997) found evidence of linkage of familial essential hypertension to 2 closely linked microsatellite markers, D17S183 and D17S934, located on 17q; these markers are, however, 18 cM proximal to the ACE locus.
Molecular Genetics
### Benign Serum Increase of ACE
In affected members of 8 families with a 5-fold increase in serum ACE, Kramers et al. (2001) identified a heterozygous pro1199-to-leu mutation in the ACE gene (P1199L; 106180.0002). There were no other clinical abnormalities in any of the affected patients, indicating a benign phenotype. Functional analysis showed that the mutation resulted in increased shedding of the protein from the cell surface.
### Renal Tubular Dysgenesis
Gribouval et al. (2005) studied 11 individuals with renal tubular dysgenesis (267430) belonging to 9 families and found that they had homozygous or compound heterozygous mutations in the genes encoding renin (REN; 179820), angiotensinogen (AGT; 106150), ACE, or angiotensin II receptor type 1 (AGTR1; 106165). They proposed that renal lesions and early anuria result from chronic low perfusion pressure of the fetal kidney, a consequence of renin-angiotensin system inactivity. This appeared to be the first identification of a renal mendelian disorder linked to genetic defects in the renin-angiotensin system, highlighting the crucial role of the renin-angiotensin system in human kidney development.
### ACE Insertion/Deletion Polymorphism
The importance of ACE in circulatory homeostasis is well documented. Besides being present as a membrane-bound enzyme on the surface of vascular endothelial cells, ACE also circulates in plasma. The plasma enzyme may be synthesized in vascular endothelium. In normal individuals, plasma ACE levels can show as much as a 5-fold interindividual variation; on the other hand, intra-individual variation is small. Cambien et al. (1988) studied familial resemblance for plasma ACE activity in 87 healthy families. The mean levels were 34.1, 30.7, and 43.1 in fathers, mothers, and offspring, respectively. Plasma ACE was uncorrelated with age, height, weight, or blood pressure in the parents, but a negative correlation with age was observed in offspring. Results of genetic analysis suggested that a major gene may affect the interindividual variability of plasma ACE. Okabe et al. (1985) described a family in which an abnormal elevation in plasma ACE levels was transmitted apparently as an autosomal dominant trait. Plasma ACE levels in affected individuals in this kindred were much higher than the values observed in the 87 families studied by Cambien et al. (1988). Tiret et al. (1992) demonstrated that the interindividual variability of plasma ACE was associated with an insertion (I)/deletion (D) polymorphism involving about 250 bp situated in intron 16 of the ACE gene, the so-called ACE/ID polymorphism (106180.0001). Rigat et al. (1990) found that the ACE/ID polymorphism was strongly associated with the level of circulating enzyme. The mean plasma ACE level of DD subjects was about twice that of II subjects, with ID subjects having intermediate levels. Rigat et al. (1992) determined that the ACE insertion corresponds to an Alu repetitive sequence and is 287 bp long.
Berge and Berg (1994) found no evidence of association between genotypes in the insertion/deletion polymorphism and level of systolic or diastolic blood pressure. In 2 series of monozygotic twin pairs, there was no difference between genotypes in within-pair variation in systolic or diastolic blood pressure. On the other hand, Schunkert et al. (1994) found an association between left ventricular hypertrophy, as assessed by electrocardiographic criteria, and the DD genotype of ACE. Epidemiologic studies had shown that left ventricular hypertrophy is often found in the absence of an elevated cardiac workload. The association with the D/D genotype was stronger in men than in women and was more prominent when blood pressure measurements were normal. The findings suggest that the D/D genotype is a genetic marker associated with an elevated risk of left ventricular hypertrophy in middle-aged men.
Lindpaintner et al. (1996) were unable to confirm an association between ACE genotype and electrocardiographically determined left ventricular mass (determined by echocardiography) and left ventricular hypertrophy (adjusted for clinical covariates) in an analysis of 2,439 subjects from the Framingham Heart Study. Montgomery et al. (1997) reported a prospective study of 460 normotensive Caucasian male military recruits undergoing an intensive 10-week physical training course. Echocardiographic indices of left ventricular mass increased by 18% during training (p less than 0.0001); those individuals with the D ACE allele showed a significantly greater response. In addition, Montgomery et al. (1997) found that electrocardiographic evidence of left ventricular hypertrophy occurred only in individuals with the DD genotype. The authors concluded that exercise-induced left ventricular growth in young males is strongly associated with the ACE I/D polymorphism.
Yoshida et al. (1995) presented evidence suggesting that the deletion polymorphism in the ACE gene, particularly the homozygote DD, is a risk factor for progression to chronic renal failure in IgA nephropathy (161950). Moreover, this deletion polymorphism appeared to predict the therapeutic efficacy of ACE inhibition on proteinuria and, potentially, on progressive deterioration of renal function in that disorder.
Marre et al. (1994) and Doria et al. (1994) reported that the I/D polymorphism of the ACE gene is associated with diabetic nephropathy (see 612624), but this association was disputed by others, e.g., Tarnow et al. (1995) and Schmidt et al. (1995). Marre et al. (1997) performed a large-scale, multicenter study on individuals with insulin-dependent diabetes mellitus (IDDM; 222100) at risk of kidney complications due to long-term exposure to hyperglycemia, i.e., those who had developed proliferative diabetic retinopathy, to test the relationship between genetic factors and renal involvement in IDDM. The study, called GENEDIAB (GEnetique de la NEphropathie DIABetique), was conducted prospectively over 1 year. The degree of renal involvement of the patients was classified according to the genetic polymorphism of ACE and 2 other elements of the renin-angiotensin system, AGT (106150) and AT2R1 (106165). The study concluded that the ACE gene is involved in both the susceptibility to diabetic nephropathy and its progression toward renal failure. The other 2 polymorphisms were found not to be contributive alone, but an interaction between the ACE I/D and AGT M235T (106150.0001) polymorphisms was found that could account for the degree of renal involvement in the patients studied.
Yoshioka et al. (1998) studied the influence of the I/D polymorphism in intron 16 of the ACE gene on the clinical manifestations of childhood Henoch-Schonlein purpura nephritis (HSPN). One-fifth of patients with HSPN had the DD genotype. The incidence of persisting proteinuria in this group was significantly greater in DD homozygotes than in II homozygotes, with an intermediate incidence in heterozygotes. This effect was not seen in a control group of patients with IgA nephropathy. The authors suggested that persisting proteinuria may be related to a defective angiotensin system genetically determined by the I/D polymorphism.
Singer et al. (1996) provided a review of the clinical literature.
There is evidence for a skeletal muscle renin-angiotensin system, suggesting that muscle growth, and thus physical performance, might be possibly associated with the D allele of the ACE insertion/deletion polymorphism. However, in initial studies, Montgomery et al. (1998) found that the ACE I allele was associated with improved endurance performance. This association was investigated in 2 parallel experiments. A relative excess of II genotype and a deficiency of DD genotype was found in 25 elite unrelated male British mountaineers, with a history of ascending beyond 7,000 meters without using supplementary oxygen, as compared with 1,906 British males free from clinical cardiovascular disease. Among 15 climbers who had ascended beyond 8,000 meters without oxygen, none was homozygous for the D allele.
In a second study, Montgomery et al. (1998) determined ACE genotype in 123 Caucasian males recruited to the U.K. Army consecutively. The maximum duration (in seconds) for which they could perform repetitive elbow flexion while holding a 15-kg barbell was assessed both before and after the training period. Pre-training performance was independent of insertion/deletion genotype. Duration of exercise improved significantly for the 66 individuals of II and ID genotypes but not for the 12 of D/D genotype. Improvement was 11-fold greater for those of II than for those of DD genotype. The mechanism of the association of the I allele with improved endurance was discussed.
Williams et al. (2000) examined training-related changes in the mechanical efficiency of human skeletal muscle and found that the presence of the II genotype confers an enhanced mechanical efficiency in trained muscle over the DD genotype. Williams et al. (2000) concluded that such benefits could be associated with the lower ACE activity of the I allele, an idea that may partly explain the beneficial effects of ACE inhibitors on myocardial cell survival during ischemia and on the survival of patients with cardiac dysfunction.
Zhang et al. (2003) demonstrated that the ACE I allele was associated with increased type I skeletal muscle fibers and suggested that this may be a mechanism for the association between the ACE genotype and endurance performance.
Winnicki et al. (2004) studied the relationship between the ACE I/D polymorphism and physical activity status in 355 mild hypertensives in whom power exercise was contraindicated. They found that a sedentary lifestyle was more common among DD than II hypertensives, with ID subjects having intermediate values (chi square = 13.9, p = 0.001). Winnicki et al. (2004) suggested that the increased risk for the development of cardiovascular complications associated with a deletion polymorphism of the ACE gene could be partially explained by the sedentary lifestyle of these subjects.
Keramatipour et al. (2000) provided genotype data on 258 subjects with ruptured intracranial aneurysm and 299 controls from the same geographic region. ACE allele frequencies were significantly different between the cases and controls (chi square = 4.67, p = 0.03)(odds ratio for I allele vs D allele = 1.3; odds ratio for II vs DD genotype = 1.67).
Low bone mineral density and muscle weakness are major risk factors for postmenopausal osteoporotic fracture. Hormone replacement therapy reverses the menopausal decline in maximum voluntary force of the adductor pollicis and reduces serum ACE levels. The I allele of the ACE gene polymorphism is associated with lower ACE activity and improved muscle efficiency in response to physical training. Woods et al. (2001) investigated whether the presence of the I allele in postmenopausal women would affect the muscle response to hormone replacement therapy. Those taking hormone replacement therapy showed a significant gain in normalized muscle maximum voluntary force slope, the rate of which was strongly influenced by ACE genotype (16.0 +/- 1.53%, 14.3 +/- 2.67%, and 7.76 +/- 4.13%, mean +/- SEM for II, ID, and DD genotype, respectively; p = 0.017 for gene effect, p = 0.004 for I allele effect). There was also a significant ACE gene effect in the response of bone mineral density to hormone replacement therapy in the Ward triangle and a significant I allele effect in the spine, but not in the neck of femur or total hip. The authors concluded that low ACE activity associated with the I allele confers an improved muscle and bone mineral density response in postmenopausal women treated with hormone replacement therapy.
Dynamic exercise is effective in lowering resting blood pressure, in both the long- and short-term, and has been advocated as a primary treatment for mild hypertension or as an adjunct therapy for more severe hypertension, in part because of its low cost and few side effects. An inverse relationship between baseline plasma renin activity and the depressor effect of mild exercise has been observed. Furthermore, resting diastolic blood pressure after upright bicycle exercise decreased in children and young adults of normotensive parents but not in those of hypertensive parents (Seguro et al., 1995). A twin study by van den Bree et al. (1996) showed that blood pressure during dynamic exercise is regulated by genetic factors. Zhang et al. (2002) studied the association of the ACE ID polymorphism with the depressor response to exercise therapy in 64 Japanese subjects with mild to moderate essential hypertension. Each subject performed 10 weeks of mild exercise therapy on a bicycle ergometer. Systolic blood pressure, diastolic blood pressure, and mean arterial pressure were significantly decreased by exercise therapy in subjects with the homozygous II and heterozygous ID genotypes, but not in homozygous DD subjects.
Age-related macular degeneration-1 (ARMD1; 603075) is the leading cause of blindness in the elderly. Hamdi et al. (2002) reported an association between an Alu polymorphism in the ACE gene with the dry/atrophic form of ARMD1. Using PCR on genomic DNA isolated from 173 patients with ARMD1 and 189 age-matched controls, they amplified a region polymorphic for an Alu element insertion in the ACE gene. The Alu +/+ genotype (i.e., the II genotype) occurred 4.5 times more frequently in the control population than in the dry/atrophic ARMD1 patient population (p = 0.004). The predominance of the Alu +/+ genotype within the unaffected control group represented a protective insertion with respect to dry/atrophic ARMD1. This was the first demonstration of an Alu element insertion exerting protective effects against a known human disease.
Kehoe et al. (2003) performed a large-scale study involving multiple markers spanning ACE, in conjunction with a metaanalysis of previously published data on a common Alu insertion/deletion polymorphism, which supported the finding of Kehoe et al. (1999) that one or more alleles of ACE contribute to Alzheimer disease (AD; 104300).
Suehiro et al. (2004) demonstrated that the D allele of the ACE I/D polymorphism leads to higher expression of the ACE mRNA and may affect the renin-angiotensin system in local regions.
### Other ACE Polymorphisms
Pedigree analyses showed that ACE levels are influenced by a quantitative trait locus (QTL) located within or close to the ACE gene and most likely residing in the 3-prime region of this locus. Zhu et al. (2000) evaluated linkage disequilibrium involving 7 polymorphisms spanning 13 kb in the 3-prime end of the ACE gene to narrow the genomic region associated with elevated ACE levels using a cladistic analysis.
In a study in 332 Nigerian families, using 13 polymorphisms in the ACE gene, Zhu et al. (2001) found strong linkage between the circulating levels of ACE and the 17q23 region (maximum lod score 7.5). Likewise, most of the polymorphisms in the ACE gene were significantly associated with ACE concentration. They also found that the 2 polymorphisms explaining the greatest variation in ACE concentration, ACE4 (A-240T) and ACE8 (A2350G), were significantly associated with blood pressure, through interaction, in this African population sample.
Kehoe et al. (2004) explored the potential influence of ACE on age at onset (AAO) of AD. They examined 2,861 individuals from 3 European populations, including 6 independent AD samples. A strong effect upon AAO was observed for 1 marker in exon 17 and evidence was also obtained indicating a possible independent effect of a second marker located in the ACE promoter. Effects were consistent with data from previous studies suggesting that alleles that confer risk to disease also appear to reduce AAO. Equivalent effects were evident regardless of APOE4 (see 107741) carrier status and in both males and females.
In 4,000 Swedish individuals, Katzov et al. (2004) demonstrated associations in males exclusively between ACE SNPs and several metabolic traits, including fasting plasma glucose levels, insulin levels, and measures of obesity (601665). Extending cladistic models to the study of myocardial infarction (608446) and Alzheimer disease (AD; 104300), significant associations were observed with greater effect sizes than those typically obtained in large-scale metaanalyses based on the Alu indel. Population frequencies of ACE genotypes changed with age, congruent with previous data suggesting effects upon longevity. Clade models consistently outperformed those based upon single markers, reinforcing the importance of taking into consideration the possible confounding effects of allelic heterogeneity in this genomic region.
Catarsi et al. (2005) studied 227 Italian nephrotic syndrome patients in whom hypertension was the major side effect of treatment by cyclosporine A (CsA). ACE haplotypes were determined in 304 Italian blood donors and assembled in clades (A, B, C) that include 95% of observed haplotypes. The association between ACE clade combinations and serum enzymatic levels reconfirmed the role of a genetic variant in the intragenic recombination site near intron 7. Haplotyping patients revealed that ACE genotype and responsiveness to CsA were strictly associated, because homozygosity for ACE B clade was able to influence CsA sensitivity. This highlights the role of 5-prime variants that differentiate clades B and C. Catarsi et al. (2005) hypothesized that the effect of ACE polymorphisms on blood pressure may be detectable once environmental factors, like CsA treatment, overcome physiologic homeostatic mechanisms.
Meng et al. (2006) evaluated the association between 15 SNPs in the ACE gene and AD in a sample of 92 patients with AD and 166 nondemented controls from an inbred Israeli Arab community. They observed significant association with 2 adjacent SNPs and with a combination of the 2. Their haplotype 'GA' had a frequency of 0.21 in cases and 0.01 in controls. Individuals with this haplotype had a 45-fold increased risk of developing AD compared with those possessing any of the other 3 haplotypes. Longer range haplotypes including I/D were even more significant.
Animal Model
Krege et al. (1995) investigated the role of the ACE gene in blood pressure control and reproduction using mice generated to carry an insertional mutation that was designed to inactivate both forms of Ace. All homozygous female mutants were found to be fertile, but the fertility of homozygous male mutants was greatly reduced. Heterozygous males but not females had blood pressures that were 15 to 20 mm Hg less than normal, although both male and female heterozygotes had reduced serum Ace activity.
Although significant ACE activity is found in plasma, the majority of the enzyme is bound to tissue such as vascular endothelium. Esther et al. (1997) used targeted homologous recombination to create mice expressing a form of ACE that lacks the C-terminal half of the molecule. This modified ACE protein was catalytically active but entirely secreted from cells. Mice that expressed only this modified ACE had significant plasma ACE activity but no tissue-bound enzyme. These animals had low blood pressure, renal vascular thickening, and a urine-concentrating defect. The phenotype was very similar to that of completely ACE-deficient mice previously reported, except that the renal pathology was less severe. These studies strongly supported the concept that the tissue-bound ACE is essential for the control of blood pressure and the structure and function of the kidney.
ACE gene knockout mice lack both isozymes and exhibit low blood pressure, kidney dysfunctions, and male infertility. Ramaraj et al. (1998) reported the use of a sperm-specific promoter and interbreeding of transgenic and gene knockout mice for generating a mouse strain that expressed ACE only in sperm. The experimental mice maintained the kidney defects of ACE -/- mice, but unlike the knockout strain, the males were fertile. Thus, Ramaraj et al. (1998) established that the role of ACE in male fertility is completely dependent on its exclusive expression in sperm. Their study demonstrated how transgenic and knockout techniques can be combined for ascribing a specific physiologic function to the expression of a multifunctional protein in a given tissue.
Hagaman et al. (1998) used transgenic mice lacking somatic and testis ACE to investigate the male fertility defect. They demonstrated that mice lacking both somatic and testis ACE isozymes have defects in sperm transport within the oviducts and in binding to zonae pellucidae. Males generated by gene targeting experiments that lack somatic ACE but retain testis ACE are fertile. Both male and female mice lacking angiotensinogen have normal fertility. The authors found that males heterozygous for the mutation inactivating both ACE enzymes had offspring of wildtype and heterozygous genotypes at the same frequency, suggesting that sperm carrying the mutation are not at a selective disadvantage.
As indicated by the work of Marre et al. (1994), Doria et al. (1994) and others, nephropathy of type 1 diabetes (222100) is associated with the D allele of the insertion/deletion (I/D) polymorphism in intron 16 of the ACE gene. The D allele determines higher enzyme levels. To address causality underlying this association, Huang et al. (2001) induced diabetes in mice having 1, 2, or 3 copies of the Ace gene, normal blood pressure, and an enzyme level range (65-162% of wildtype) comparable to that seen in humans. Twelve weeks later, the 3-copy diabetic mice had increased blood pressures and overt proteinuria. Proteinuria was correlated to plasma ACE level in the 3-copy diabetic mice. Thus, a modest genetic increase in ACE levels was sufficient to cause nephropathy in diabetic mice.
Kessler et al. (2003) generated 2 strains of mice that express ACE in only vascular endothelial cells or renal proximal tubules. Both strains had equivalent serum ACE and angiotensin II levels and renal function, but only the group that expressed ACE in vascular endothelial cells had normal blood pressure. Kessler et al. (2003) concluded that ACE-mediated blood pressure maintenance can be dissociated from its role in maintaining renal structure and function, supporting the hypothesis that specific physiologic functions of ACE are mediated by its expression in specific tissues.
Because experiments in mice and computer simulations indicated that modest increases in ACE have minimal effects on blood pressure and angiotensin II levels but cause a significant decrease in bradykinin levels (see 113503), Kakoki et al. (2004) hypothesized that bradykinin is critical for protecting the kidney in diabetics. They confirmed this by demonstrating that Akita diabetic mice lacking the bradykinin B2 receptor (BDKRB2; 113503) developed overt albuminuria, excreting the equivalent of more than 550 mg/day of albumin in humans, which contrasted with the microalbuminuria (equivalent to less than 150 mg/day) seen in their simply diabetic littermates. The overt albuminuria was accompanied by a marked increase in glomerular mesangial sclerosis.
Tian et al. (2004) generated a transgenic rat model with selective overexpression of human ACE1 in the cardiac ventricles. The left ventricular ACE1 activity was elevated about 50-fold in transgenic rats. Angiotensin-1 perfusion of isolated hearts demonstrated a significant decrease in coronary artery flow compared with nontransgenic littermates, suggesting that the transgenic ACE1 is functional. Neither cardiac hypertrophy nor other morphologic abnormalities were observed in transgenic rats under standard living conditions. After induction of hypertension by suprarenal aortic banding, the degree of cardiac hypertrophy in transgenic rats was significantly higher than that of banded control rats. The expressions of both ANF (108780) and collagen III (see 120180), molecular markers of cardiac hypertrophy, were also increased in banded transgenic rats compared with banded control. Tian et al. (2004) concluded that increased cardiac ACE1 does not trigger but augments cardiac hypertrophy.
Jayasooriya et al. (2008) stated that Ace -/- mice have lower body weight than wildtype mice, and they found that the reduced weight was due to greater fed-state total energy expenditure and resting energy expenditure. In addition, livers of Ace -/- mice showed pronounced expression of genes related to lipolysis and fatty acid oxidation, and plasma leptin (164160) levels were reduced. Jayasooriya et al. (2008) concluded that reduced Ace activity causes increased metabolism of fatty acids in the liver, with additional effect of increased glucose tolerance.
*[v]: View this template
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*[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
| ANGIOTENSIN I-CONVERTING ENZYME | c1862873 | 29,289 | omim | https://www.omim.org/entry/106180 | 2019-09-22T16:45:03 | {"omim": ["106180"], "synonyms": ["Alternative titles", "ACE1", "DIPEPTIDYL CARBOXYPEPTIDASE 1", "KININASE II"]} |
Congenital tracheomalacia is when an infant is born with weak cartilage around the windpipe (trachea) that makes it difficult to keep the airway open. The trachea can collapse when breathing out. Symptoms vary from mild to severe and may include noisy breathing (stridor), shortness of breath, difficulty breathing, and bluish skin (cyanotic spells). Symptoms typically worsen during periods of activity. Tracheomalacia can occur on its own or along with other airway problems. It can also occur with congenital abnormalities that affect other parts of the body. Tracheomalacia often resolves on its own by the second year of life. Treatment of symptoms may include humidified air, chest physical therapy, or continuous positive airway pressure (CPAP) for respiratory distress. Severe tracheomalacia may need to be treated with surgery.
*[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
| Congenital tracheomalacia | c0392109 | 29,290 | gard | https://rarediseases.info.nih.gov/diseases/10515/congenital-tracheomalacia | 2021-01-18T18:01:06 | {"mesh": ["C557675"], "umls": ["C0392109"], "orphanet": ["95430"], "synonyms": ["Tracheomalacia, congenital", "Type 1 tracheomalacia", "Congenital major airway collapse"]} |
Histoid leprosy
SpecialtyDermatology
Histoid leprosy is a skin condition, a rare form of multibacillary leprosy.[1]:346
## See also[edit]
* Leprosy
* 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
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
| Histoid leprosy | c0343468 | 29,291 | wikipedia | https://en.wikipedia.org/wiki/Histoid_leprosy | 2021-01-18T19:08:45 | {"umls": ["C0343468"], "wikidata": ["Q16897486"]} |
Xeroderma pigmentosum (XP) causes the skin and eyes to be extra sensitive to exposure to ultraviolet radiation from the sun and other sources. Symptoms begin in early childhood. People with XP can develop bad sunburns, blistering, and freckling in response to sunlight. The eyes may develop light sensitivity, corneal clouding, and swelling. Some people with XP have nervous system involvement as well. People with XP are at very high risk of developing skin cancer and other types of cancers. XP is caused by variants in one of at least nine genes involved in repairing damaged DNA. XP is inherited in an autosomal recessive pattern. Diagnosis is based on the clinical findings and specialized testing on skin cells. The diagnosis can be confirmed by the results of genetic testing. Treatment is focused on managing the symptoms. This includes avoiding sun exposure and performing frequent screenings for skin cancer and other cancers.
*[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
| Xeroderma pigmentosum | c0043346 | 29,292 | gard | https://rarediseases.info.nih.gov/diseases/7910/xeroderma-pigmentosum | 2021-01-18T17:57:01 | {"mesh": ["D014983"], "umls": ["C0043346"], "orphanet": ["910"], "synonyms": ["XP", "Xeroderma pigmentosa"]} |
A number sign (#) is used with this entry because of evidence that congenital disorder of glycosylation type IIj (CDG IIj, CDG2J) is caused by compound heterozygous mutation in the COG4 gene (606976) on chromosome 16q22.
For a general discussion of CDGs, see CDG1A (212065).
Clinical Features
Reynders et al. (2009) reported a Portuguese boy, born of unrelated parents, with CDG type II. He presented at age 4 months with fever, progressive irritability, and complex seizures after a vaccination. He had mild dysmorphic features, such as down-sloping frontal area and thick hair, as well as mild neurologic signs, including axial hypotonia, mild peripheral hypertonia, and hyperreflexia. Laboratory studies showed increased serum transaminases, alkaline phosphatase, and LDH cholesterol, but decreased platelet count and coagulation factors. Isoelectric focusing of serum transferrin showed a type 2 pattern. The patient later developed recurrent respiratory infections. By age 3 years, he had microcephaly, cerebral atrophy of the frontotemporal regions, ataxia, absence of speech, and moderate psychomotor retardation. Reynders et al. (2009) noted that the phenotype in this patient was not as severe as that observed in patients with type II CDG due to other COG defects, including CDG2G (611209), CDG2E (608779), and CDG2H (611182). The clinical severity of these phenotypes correlated with structural and biochemical abnormalities of the Golgi complex, with the COG4 mutant being the mildest.
Ng et al. (2011) reported an Indian child with a severe form of CDG2J, who had originally been reported by Miura et al. (2005). He had failure to thrive in infancy with recurrent diarrhea. He also had recurrent respiratory and gastrointestinal infections with sepsis and hypotensive shock at age 11 months. Other features included profound developmental delay, hypotonia, nystagmus, hepatosplenomegaly, and poor growth. Brain MRI showed diffuse cerebral atrophy and thinning of the corpus callosum. Seizures developed occurred at age 16 months. The course was progressive, and he developed liver cirrhosis, coagulopathy, and recurrent infections that were ultimately fatal around age 2 years. The patient had 2 unaffected sibs. Patient serum N-glycans showed deficiencies in both sialylation and galactosylation, and patient fibroblasts showed impaired O-glycosylation, indicating a combined deficiency. Patient fibroblasts also showed a defect in Brefeldin A (BFA)-induced retrograde transport of Golgi proteins back to the endoplasmic reticulum. Ng et al. (2011) noted the more severe phenotype compared to that reported by Reynders et al. (2009).
Inheritance
The transmission pattern of CDG2J in the families reported by Reynders et al. (2009) and Ng et al. (2011) was consistent with autosomal recessive inheritance.
Molecular Genetics
Reynders et al. (2009) reported a Portuguese patient with congenital disorder of glycosylation type IIj and identified compound heterozygosity for a missense mutation in the COG4 gene and a large deletion encompassing most COG4 exons (606976.0001-606976.0002, respectively).
In an Indian patient, born of unrelated parents, with a severe form of CDG2J, Ng et al. (2011) identified compound heterozygous mutations in the COG4 gene (606976.0003 and 606976.0004). There was an isolated reduction in COG4 protein expression.
INHERITANCE \- Autosomal recessive GROWTH Other \- Failure to thrive (1 patient) HEAD & NECK Head \- Microcephaly (1 patient) Face \- Dysmorphic facies (1 patient) Eyes \- Nystagmus (1 patient) RESPIRATORY \- Recurrent respiratory infections ABDOMEN Liver \- Hepatomegaly (1 patient) \- Liver failure (1 patient) \- Cirrhosis (1 patient) Spleen \- Splenomegaly (1 patient) Gastrointestinal \- Poor feeding (1 patient) \- Recurrent diarrhea (1 patient) \- Recurrent gastrointestinal infections (1 patient) SKIN, NAILS, & HAIR Hair \- Thick hair (1 patient) MUSCLE, SOFT TISSUES \- Hypotonia NEUROLOGIC Central Nervous System \- Delayed psychomotor development, moderate to severe \- Lack of speech \- Axial hypotonia \- Peripheral hypertonia \- Ataxia \- Uncoordinated movements \- Seizures (1 patient) \- Cerebral atrophy \- Thin corpus callosum (1 patient) Behavioral Psychiatric Manifestations \- Irritability HEMATOLOGY \- Decreased coagulation factors LABORATORY ABNORMALITIES \- Serum transferrin isoelectric focusing shows type 2 pattern \- Sialylation defects \- Galactosylation defects \- Impaired N-glycosylation \- Impaired O-glycosylation \- Some fragmented or disrupted Golgi \- Abnormal liver enzymes \- Increased alkaline phosphatase MISCELLANEOUS \- Two unrelated patients have been reported (last curated June 2012) \- One patient had onset at birth and a more severe disorder resulting in death at a young age \- One patient had onset at age 4 months after normal development MOLECULAR BASIS \- Caused by mutation in the component of oligomeric Golgi complex 4 gene (COG4, 606976.0001 ) ▲ 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
| CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIj | c3150736 | 29,293 | omim | https://www.omim.org/entry/613489 | 2019-09-22T15:58:32 | {"doid": ["0070262"], "omim": ["613489"], "orphanet": ["263501"], "synonyms": ["Congenital disorder of glycosylation type IIj", "CDG2J", "CDG syndrome type IIj", "Carbohydrate deficient glycoprotein syndrome type IIj", "CDG-IIj", "Congenital disorder of glycosylation type 2j", "Alternative titles", "CDG IIj"], "genereviews": ["NBK1332"]} |
Cohen et al. (1997) described a 58-year-old man and his son who had calcification of superior transverse scapular ligament causing entrapment neuropathy of the suprascapular nerve. The chief complaints in both men were pain, weakness, and atrophy of the supraspinatus and infraspinatus muscles. The nerve entrapment was confirmed by electromyographic studies and required surgical decompression to relieve the symptoms. Release of the entrapped nerve resulted in complete relief of pain and full return of strength at 1-year follow-up. No other reports of familial suprascapular nerve entrapment due to calcification of the ligament had been described, according to the authors. The son had developed right shoulder pain as a result of repetitive softball throwing 5 years before the diagnosis was made. In the father, symptoms of weakness and night pain had begun in the right shoulder after he was forced to use crutches for 3 days following arthroscopic surgery of the right knee. He had noninsulin-dependent diabetes mellitus and peptic ulcer disease. Hadley et al. (1986) and Callahan et al. (1991) reported series of cases of suprascapular entrapment.
Muscle \- Calcification of superior transverse scapular ligament \- Supraspinatus and infraspinatus pain, weakness, and atrophy Neuro \- Entrapment neuropathy of suprascapular nerve 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
| SUPERIOR TRANSVERSE SCAPULAR LIGAMENT, CALCIFICATION OF, FAMILIAL | c1866424 | 29,294 | omim | https://www.omim.org/entry/601708 | 2019-09-22T16:14:23 | {"mesh": ["C566638"], "omim": ["601708"]} |
A rare primary bone dysplasia characterized by abnormal bone metabolism with bone pain, deformity, pathological fractures, early conductive hearing loss, and dental abnormalities. Focal bone lesions are typically found in the appendicular skeleton and consist of progressively expanding lytic areas, while generalized disordered bone modeling and altered trabecular pattern are the result of the multifocal, progressive nature of the disease. Age of onset is variable, mode of inheritance 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
| Familial expansile osteolysis | c0432292 | 29,295 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=85195 | 2021-01-23T18:55:09 | {"gard": ["9168"], "mesh": ["C536335"], "omim": ["174810"], "umls": ["C0432292"], "icd-10": ["M89.5"], "synonyms": ["Hereditary expansile polyostotic osteolytic dysplasia", "McCabe disease"]} |
Becker nevus syndrome is characterized by the presence of a Becker nevus in association with underdevelopment (hypoplasia) of the breast or other skin-related, muscular, or skeletal defects, all of which usually involve the same side of the body as the nevus (ipsilateral). Specific signs and symptoms in addition to the nevus may include ipsilateral breast hypoplasia; skeletal abnormalities such as hypoplasia of the shoulder girdle, scoliosis, fused ribs, and ipsilateral shortness of the arm; and several other features. The condition is thought to be sporadic (occurring in individuals with no history of the condition in the family). Treatment varies depending upon the specific symptoms present and the extent of the condition in the affected individual.
*[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
| Becker nevus syndrome | c1858042 | 29,296 | gard | https://rarediseases.info.nih.gov/diseases/3856/becker-nevus-syndrome | 2021-01-18T18:01:51 | {"mesh": ["C565735"], "omim": ["604919"], "umls": ["C1858042"], "orphanet": ["64755"], "synonyms": ["Hairy epidermal nevus syndrome"]} |
Monilethrix is a condition that affects hair growth. Its most characteristic feature is that individual strands of hair have a beaded appearance like the beads of a necklace. The name monilethrix comes from the Latin word for necklace (monile) and the Greek word for hair (thrix). Noticeable when viewed under a microscope, the beaded appearance is due to periodic narrowing of the hair shaft. People with monilethrix also have sparse hair growth (hypotrichosis) and short, brittle hair that breaks easily.
Affected individuals usually have normal hair at birth, but the hair abnormalities develop within the first few months of life. In mild cases of monilethrix, only hair on the back of the head (occiput) or nape of the neck is affected. In more severe cases, hair over the whole scalp can be affected, as well as pubic hair, underarm hair, eyebrows, eyelashes, or hair on the arms and legs.
Occasionally, the skin and nails are involved in monilethrix. Some affected individuals have a skin condition called keratosis pilaris, which causes small bumps on the skin, especially on the scalp, neck, and arms. Affected individuals may also have abnormal fingernails or toenails.
## Frequency
The prevalence of monilethrix is unknown.
## Causes
Monilethrix is caused by mutations in one of several genes. Mutations in the KRT81 gene, the KRT83 gene, the KRT86 gene, or the DSG4 gene account for most cases of monilethrix. These genes provide instructions for making proteins that give structure and strength to strands of hair.
Hair growth occurs in the hair follicle, a specialized structure in the skin. As the cells of the hair follicle mature to take on specialized functions (differentiate), they produce particular proteins and form the different compartments of the hair follicle and the hair shaft. As the cells in the hair follicle divide, the hair shaft is pushed upward and extends beyond the skin.
The KRT81, KRT83, and KRT86 genes provide instructions for making proteins known as keratins. Keratins are a group of tough, fibrous proteins that form the structural framework of cells that make up the hair, skin, and nails. The KRT81 gene provides instructions for making the type II hair keratin K81 protein (K81); the KRT83 gene provides instruction for making the type II hair keratin K83 protein (K83); and the KRT86 gene provides instructions for making the type II hair keratin K86 protein (K86). The K81, K83, and K86 proteins are found in cells of the inner compartment of the hair shaft known as the cortex. These proteins give hair its strength and elasticity.
The DSG4 gene provides instructions for making a protein called desmoglein 4 (DSG4). This protein is found in specialized structures called desmosomes that are located in the membrane surrounding certain cells. These structures help attach cells to one another and play a role in communication between cells. The DSG4 protein is found in particular regions of the hair follicle, including the hair shaft cortex. Desmosomes in these regions provide strength to the hair and are thought to play a role in communicating the signals for cells to differentiate to form the hair shaft.
In people with monilethrix, the cortex of the affected hair shaft appears abnormal. However, it is unclear how mutations in the KRT81, KRT83, KRT86, or DSG4 genes are related to the abnormality in the cortex or the beaded appearance of the hair.
Some people with monilethrix do not have a mutation in one of these genes. These individuals may have a genetic change in another gene, or the cause of the condition may be unknown.
### Learn more about the genes associated with Monilethrix
* DSG4
* KRT81
* KRT83
* KRT86
## Inheritance Pattern
Monilethrix can have multiple patterns of inheritance. When the condition is caused by a mutation in one of the keratin genes, it is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. In rare cases, the condition results from a new mutation in the gene and is not inherited.
When the condition is caused by mutations in the DSG4 gene, it is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show 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
| Monilethrix | c0546966 | 29,297 | medlineplus | https://medlineplus.gov/genetics/condition/monilethrix/ | 2021-01-27T08:25:42 | {"gard": ["93"], "mesh": ["D056734"], "omim": ["158000"], "synonyms": []} |
Pilomatricoma
Other namesCalcifying epithelioma of Malherbe,[1] Malherbe calcifying epithelioma, and Pilomatrixoma
Micrograph of a pilomatricoma showing the characteristic "ghost" cells (anucleate squamous cells), benign viable squamous cells and multi-nucleated giant cells. H&E stain.
SpecialtyOncology
Pilomatricoma, is a benign skin tumor derived from the hair matrix.[2][3] These neoplasms are relatively uncommon and typically occur on the scalp, face, and upper extremities. Clinically, pilomatricomas present as a subcutaneous nodule or cyst with unremarkable overlying epidermis that can range in size from 0.5-3.0 cm, but the largest reported case was 24 cm.[4]
## Contents
* 1 Presentation
* 1.1 Associations
* 2 Histologic features
* 3 Pathogenesis
* 4 Diagnosis
* 5 See also
* 6 References
* 7 External links
## Presentation[edit]
### Associations[edit]
Pilomatricomas have been observed in a variety of genetic disorders including Turner syndrome, myotonic dystrophy, Rubinstein-Taybi syndrome, Trisomy 9, and Gardner syndrome.[5] It has been reported that the prevalence of pilomatricomas in Turner syndrome is 2.6%.[6]
Hybrid cysts that are composed of epidermal inclusion cysts and pilomatricoma-like changes have been repeatedly observed in Gardner syndrome.[7][8][9][10] This association has prognostic import, since cutaneous findings in children with Gardner Syndrome generally precede colonic polyposis.[citation needed]
## Histologic features[edit]
Pilomatricomas consist of anucleate squamous cells (called "ghost cells"), benign viable squamous cells and foreign body giant cells. These neoplasms have a characteristic transition of cells. The lining of the cyst consists of basoloid cells with indistinct cell borders and basophilic nuclei that mature into the eosinophilic anucleated squamous cells. The presence of calcifications with foreign body giant cells is common within the tumors.[11]
## Pathogenesis[edit]
Pilomatricoma is associated with high levels of beta-catenin caused by either a mutation in the APC gene or a stabilizing mutation in the beta-catenin gene, CTNNB1. High levels of beta-catenin increases cell proliferation, inhibit cell death, and ultimately leads to neoplastic growth.[6]
## Diagnosis[edit]
This section is empty. You can help by adding to it. (May 2018)
## See also[edit]
* Malignant pilomatricoma
* List of cutaneous conditions
* List of cutaneous neoplasms associated with systemic syndromes
## 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.[page needed]
2. ^ James, William Daniel; Berger, Timothy G.; Elston, Dirk M., eds. (2006). Andrews' Diseases of the Skin: Clinical Dermatology. Saunders Elsevier. p. 670. ISBN 978-0-8089-2351-0.
3. ^ Levy, Jaime; Ilsar, Michael; Deckel, Yael; Maly, Alexander; Anteby, Irene; Pe'er, Jacob (2008). "Eyelid Pilomatrixoma: A Description of 16 cases and a Review of the Literature". Survey of Ophthalmology. 53 (5): 526–35. doi:10.1016/j.survophthal.2008.06.007. PMID 18929763.
4. ^ Gongidi, P.; Meshekow, J.; Holdbrook, T.; Germaine, P. (2015). "Giant Pilomatrixoma Presenting in the Posterior Thorax, a Rare Location and the Largest Described". Case Reports in Radiology. 2015: 590742. doi:10.1155/2015/590742. PMC 4339831. PMID 25763287.
5. ^ Cooper, Philip H.; Fechner, Robert E. (1983). "Pilomatricoma-like changes in the epidermal cysts of Gardner's syndrome". Journal of the American Academy of Dermatology. 8 (5): 639–44. doi:10.1016/S0190-9622(83)70071-X. PMID 6863619.
6. ^ a b Glanz, Steven M.; Kessler, Harvey P.; Eskin, Thomas A.; Liu, Chen; Hassanein, Ashraf M. (2003). "b-Catenin Is Expressed Aberrantly in Tumors Expressing Shadow Cells Pilomatricoma, Craniopharyngioma, and Calcifying Odontogenic Cyst". American Journal of Clinical Pathology. 120 (5): 732–6. doi:10.1309/EALEG7LD6W7167PX. PMID 14608900.
7. ^ Narisawa, Yutaka; Kohda, Hiromu (1989). "An Unusual Hybrid Cyst in Gardner's Syndrome with Partial Differentiation toward the Inner Root Sheath". The Journal of Dermatology. 16 (6): 492–5. doi:10.1111/j.1346-8138.1989.tb01591.x. PMID 2628457.
8. ^ Rütten, A; Wenzel, P; Goos, M (1990). "Gardner-Syndrom mit pilomatrixomartigen Haarfollikelzysten" [Gardner syndrome with pilomatrixoma-like hair follicle cysts]. Der Hautarzt; Zeitschrift FüR Dermatologie, Venerologie, und Verwandte Gebiete (in German). 41 (6): 326–8. PMID 2380070. INIST:19291018.
9. ^ Narisawa, Yutaka; Kohda, Hiromu (1995). "Cutaneous cysts of Gardner's syndrome are similar to follicular stem cells". Journal of Cutaneous Pathology. 22 (2): 115–21. doi:10.1111/j.1600-0560.1995.tb01392.x. PMID 7560342.
10. ^ Urabe, Kazunori; Xia, Jianxin; Masuda, Teiichi; Moroi, Yoichi; Furue, Masutaka; Matsumoto, Takayuki (2004). "Pilomatricoma-Like Changes in the Epidermoid Cysts of Gardner Syndrome with an APC Gene Mutation". The Journal of Dermatology. 31 (3): 255–7. doi:10.1111/j.1346-8138.2004.tb00669.x. PMID 15187352.
11. ^ Elder, David E.; Johnson, Bernett L.; Elenitsas, Rosalie, eds. (2005). Lever's Histopathology of the Skin. Lippincott Williams & Wilkins. ISBN 978-0-7817-3742-5.[page needed]
## External links[edit]
Classification
D
* ICD-10: D23
* MeSH: D018296
* DiseasesDB: 32128
External resources
* eMedicine: article/1058965
* v
* t
* e
Cancers of skin and associated structures
Glands
Sweat gland
Eccrine
* Papillary eccrine adenoma
* Eccrine carcinoma
* Eccrine nevus
* Syringofibroadenoma
* Spiradenoma
Apocrine
* Cylindroma
* Dermal cylindroma
* Syringocystadenoma papilliferum
* Papillary hidradenoma
* Hidrocystoma
* Apocrine gland carcinoma
* Apocrine nevus
Eccrine/apocrine
* Syringoma
* Hidradenoma or Acrospiroma/Hidradenocarcinoma
* Ceruminous adenoma
Sebaceous gland
* Nevus sebaceous
* Muir–Torre syndrome
* Sebaceous carcinoma
* Sebaceous adenoma
* Sebaceoma
* Sebaceous nevus syndrome
* Sebaceous hyperplasia
* Mantleoma
Hair
* Pilomatricoma/Malignant pilomatricoma
* Trichoepithelioma
* Multiple familial trichoepithelioma
* Solitary trichoepithelioma
* Desmoplastic trichoepithelioma
* Generalized trichoepithelioma
* Trichodiscoma
* Trichoblastoma
* Fibrofolliculoma
* Trichilemmoma
* Trichilemmal carcinoma
* Proliferating trichilemmal cyst
* Giant solitary trichoepithelioma
* Trichoadenoma
* Trichofolliculoma
* Dilated pore
* Isthmicoma
* Fibrofolliculoma
* Perifollicular fibroma
* Birt–Hogg–Dubé syndrome
Hamartoma
* Basaloid follicular hamartoma
* Folliculosebaceous cystic hamartoma
* Folliculosebaceous-apocrine hamartoma
Nails
* Neoplasms of the nailbed
*[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
| Pilomatricoma | c0206711 | 29,298 | wikipedia | https://en.wikipedia.org/wiki/Pilomatricoma | 2021-01-18T18:40:10 | {"gard": ["9452"], "mesh": ["D018296"], "umls": ["C0206711"], "icd-10": ["D23"], "orphanet": ["91414"], "wikidata": ["Q1704531"]} |
Chorionic hematoma
Other namesChorionic hemorrhage, chorionic bleed
Play media
Ultrasound showing a subchorionic hemorrhage[1]
Chorionic hematoma is the pooling of blood (hematoma) between the chorion, a membrane surrounding the embryo, and the uterine wall.[2] It occurs in about 3.1% of all pregnancies,[2] it is the most common sonographic abnormality and the most common cause of first trimester bleeding.[3]
## Cause and diagnosis[edit]
Chorion, amnion and gestational (yolk) sac
Chorionic hematomas can be caused by the separation of the chorion from the endometrium (inner membrane of the uterus). Hematomas are classified by their location between tissue layers:[4]
* Subchorionic hematomas, the most common type, are between the chorion and endometrium.
* Retroplacental hematomas are entirely behind the placenta and not touching the gestational sac.
* Subamniotic or preplacental hematomas are contained within amnion and chorion. Rare.
Most patients with a small subchorionic hematoma are asymptomatic.[5] Symptoms include vaginal bleeding, abdominal pain, premature labor and threatened abortion.[6]
Ultrasonography is the preferred method of diagnosis.[7] A chorionic hematoma appears on ultrasound as a hypoechoic crescent adjacent to the gestational sac. The hematoma is considered small if it is under 20% of the size of the sac and large if it is over 50%.[2]
## Prognosis and treatment[edit]
The presence of subchorionic bleeding around the gestational sac does not have a significant association with miscarriage overall.[8][9] However, the case of intrauterine hematoma observed before 9 weeks of gestational age has been associated with an increased risk of miscarriage.[10] In one study women who complied with instructions for bed rest for the duration of bleeding had a lower rate of miscarriage and a higher rate of term pregnancy than non-compliant women. The study had several limitations; results were severely confounded by inherent differences between compliant and non-compliant women. [11]
## References[edit]
1. ^ "UOTW #3 Answer - Ultrasound of the Week". Ultrasound of the Week. Retrieved 27 May 2017.
2. ^ a b c Nagy, Sándor MD; Bush, Melissa MD; Stone, Joanne MD; Lapinski, Robert H. PhD; Gardó, Sándor MD, DSci. Clinical Significance of Subchorionic and Retroplacental Hematomas Detected in the First Trimester of Pregnancy [1]. Obstetrics & Gynecology: July 2003 - Volume 102 - Issue 1 - p 94-100
3. ^ Avneesh Chhabra, MD et al. "Subchorionic Hemorrhage" [2], Medscape.
4. ^ Trop, Isabelle and Levine, Deborah. Hemorrhage During Pregnancy: Sonography and MR Imaging [3]. Amer J Roentgenology 2001; 176:607-615.
5. ^ Trop I, Levine D. Hemorrhage during pregnancy: sonography and MR imaging. AJR Am J Roentgenol. Mar 2001;176(3):607-15.
6. ^ Hodgson DT, Lotfipour S, Fox JC. Vaginal bleeding before 20 weeks gestation due to placental abruption leading to disseminated intravascular coagulation and fetal loss after appearing to satisfy criteria for routine threatened abortion: a case report and brief review of the literature. J Emerg Med. May 2007;32(4):387-92
7. ^ Abu-Yousef MM, Bleicher JJ, Williamson RA, Weiner CP. Subchorionic hemorrhage: sonographic diagnosis and clinical significance. AJR Am J Roentgenol. Oct 1987;149(4):737-40.
8. ^ "Miscarriage risk is not increased with subchorionic hematoma". www.mdedge.com.
9. ^ N. Stamatopoulos; C. Lu; F. Infante; U. Menakaya; I. Casikar; S. Reid; M. Mongelli; G. Condous (2013). "OP03.03: Does the presence of subchorionic haematoma increase the risk of miscarriage?". Ultrasound in Obstetrics & Gynecology. 42 (s1): 54. doi:10.1002/uog.12736.
10. ^ Maso, G.; Dʼottavio, G.; De Seta, F.; Sartore, A.; Piccoli, M.; Mandruzzato, G. (2005). "First-Trimester Intrauterine Hematoma and Outcome of Pregnancy". Obstetrics & Gynecology. 105 (2): 339–44. doi:10.1097/01.AOG.0000152000.71369.bd. PMID 15684162. S2CID 12502344.
11. ^ Ben-Haroush A, Yogev Y, Mashiach R, Meizner I. Pregnancy outcome of threatened abortion with subchorionic hematoma: possible benefit of bed-rest? Journal Isr Med Assoc J. 2003 Jun;5(6):422-4
* v
* t
* e
Pregnancy and childbirth
Planning
* Birth control
* Natural family planning
* Pre-conception counseling
Conception
* Assisted reproductive technology
* Artificial insemination
* Fertility medication
* In vitro fertilisation
* Fertility awareness
* Unintended pregnancy
Testing
* 3D ultrasound
* Obstetric ultrasonography
* Pregnancy test
* Home testing
* Prenatal diagnosis
Prenatal
Anatomy
* Amniotic fluid
* Amniotic sac
* Endometrium
* Placenta
Development
* Fundal height
* Gestational age
* Human embryogenesis
* Maternal physiological changes
* Postpartum physiological changes
Care
* Nutrition
* Environmental toxicants
* In pregnancy
* Prenatal
* Concomitant conditions
* Drinking
* Diabetes mellitus
* Smoking
* Vaping
* SLE
* Sexual activity during pregnancy
Procedures
* Amniocentesis
* Cardiotocography
* Chorionic villus sampling
* Nonstress test
* Abortion
Childbirth
Preparation
* Bradley method
* Hypnobirthing
* Lamaze
* Nesting instinct
Roles
* Doula
* Birth attendant
* Men's roles
* Midwife
* Obstetrician
* Perinatal nurse
* Traditional birth attendant
Delivery
* Bloody show
* Childbirth positions
* Home birth
* Multiple birth
* Natural childbirth
* Pelvimetry / Bishop score
* Cervical dilation
* Cervical effacement
* Position
* Presentation
* Breech
* Cephalic
* Shoulder
* Rupture of membranes
* Unassisted childbirth
* Uterine contraction
* Water birth
Postpartum
Maternal
* Postpartum confinement
* Sex after pregnancy
* Psychiatric disorders of childbirth
* Postpartum physiological changes
Roles
* Doula
* Health visitor
* Lactation consultant
* Monthly nurse
* Confinement nanny
Infant
* Adaptation to extrauterine life
* Child care
* Congenital disorders
Obstetric history
* Gravidity and parity
* v
* t
* e
Pathology of pregnancy, childbirth and the puerperium
Pregnancy
Pregnancy with
abortive outcome
* Abortion
* Ectopic pregnancy
* Abdominal
* Cervical
* Interstitial
* Ovarian
* Heterotopic
* Embryo loss
* Fetal resorption
* Molar pregnancy
* Miscarriage
* Stillbirth
Oedema, proteinuria and
hypertensive disorders
* Gestational hypertension
* Pre-eclampsia
* HELLP syndrome
* Eclampsia
Other, predominantly
related to pregnancy
Digestive system
* Acute fatty liver of pregnancy
* Gestational diabetes
* Hepatitis E
* Hyperemesis gravidarum
* Intrahepatic cholestasis of pregnancy
Integumentary system /
dermatoses of pregnancy
* Gestational pemphigoid
* Impetigo herpetiformis
* Intrahepatic cholestasis of pregnancy
* Linea nigra
* Prurigo gestationis
* Pruritic folliculitis of pregnancy
* Pruritic urticarial papules and plaques of pregnancy (PUPPP)
* Striae gravidarum
Nervous system
* Chorea gravidarum
Blood
* Gestational thrombocytopenia
* Pregnancy-induced hypercoagulability
Maternal care related to the
fetus and amniotic cavity
* amniotic fluid
* Oligohydramnios
* Polyhydramnios
* Braxton Hicks contractions
* chorion / amnion
* Amniotic band syndrome
* Chorioamnionitis
* Chorionic hematoma
* Monoamniotic twins
* Premature rupture of membranes
* Obstetrical bleeding
* Antepartum
* placenta
* Circumvallate placenta
* Monochorionic twins
* Placenta accreta
* Placenta praevia
* Placental abruption
* Twin-to-twin transfusion syndrome
Labor
* Amniotic fluid embolism
* Cephalopelvic disproportion
* Dystocia
* Shoulder dystocia
* Fetal distress
* Locked twins
* Nuchal cord
* Obstetrical bleeding
* Postpartum
* Pain management during childbirth
* placenta
* Placenta accreta
* Preterm birth
* Postmature birth
* Umbilical cord prolapse
* Uterine inversion
* Uterine rupture
* Vasa praevia
Puerperal
* Breastfeeding difficulties
* Low milk supply
* Cracked nipples
* Breast engorgement
* Childbirth-related posttraumatic stress disorder
* Diastasis symphysis pubis
* Postpartum bleeding
* Peripartum cardiomyopathy
* Postpartum depression
* Postpartum psychosis
* Postpartum thyroiditis
* Puerperal fever
* Puerperal mastitis
Other
* Concomitant conditions
* Diabetes mellitus
* Systemic lupus erythematosus
* Thyroid disorders
* Maternal death
* Sexual activity during pregnancy
* Category
*[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
| Chorionic hematoma | None | 29,299 | wikipedia | https://en.wikipedia.org/wiki/Chorionic_hematoma | 2021-01-18T18:33:40 | {"wikidata": ["Q559266"]} |
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