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Tangier disease is an inherited disorder characterized by significantly reduced levels of high-density lipoprotein (HDL) in the blood. HDL transports cholesterol and certain fats called phospholipids from the body's tissues to the liver, where they are removed from the blood. HDL is often referred to as "good cholesterol" because high levels of this substance reduce the chances of developing heart and blood vessel (cardiovascular) disease. Because people with Tangier disease have very low levels of HDL, they have a moderately increased risk of cardiovascular disease.
Additional signs and symptoms of Tangier disease include a slightly elevated amount of fat in the blood (mild hypertriglyceridemia); disturbances in nerve function (neuropathy); and enlarged, orange-colored tonsils. Affected individuals often develop atherosclerosis, which is an accumulation of fatty deposits and scar-like tissue in the lining of the arteries. Other features of this condition may include an enlarged spleen (splenomegaly), an enlarged liver (hepatomegaly), clouding of the clear covering of the eye (corneal clouding), and type 2 diabetes.
## Frequency
Tangier disease is a rare disorder with approximately 100 cases identified worldwide. More cases are likely undiagnosed. This condition is named after an island off the coast of Virginia where the first affected individuals were identified.
## Causes
Mutations in the ABCA1 gene cause Tangier disease. This gene provides instructions for making a protein that releases cholesterol and phospholipids from cells. These substances are used to make HDL, which transports them to the liver.
Mutations in the ABCA1 gene prevent the release of cholesterol and phospholipids from cells. As a result, these substances accumulate within cells, causing certain body tissues to enlarge and the tonsils to acquire a yellowish-orange color. A buildup of cholesterol can be toxic to cells, leading to impaired cell function or cell death. In addition, the inability to transport cholesterol and phospholipids out of cells results in very low HDL levels, which increases the risk of cardiovascular disease. These combined factors cause the signs and symptoms of Tangier disease.
### Learn more about the gene associated with Tangier disease
* ABCA1
## 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-aminobutyric 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
|
Tangier disease
|
c0039292
| 26,500 |
medlineplus
|
https://medlineplus.gov/genetics/condition/tangier-disease/
| 2021-01-27T08:25:24 |
{"gard": ["7731"], "mesh": ["D013631"], "omim": ["205400"], "synonyms": []}
|
Wound botulism is a rare infectious form of botulism (see this term), a rare acquired neuromuscular junction disease with descending flaccid paralysis due to botulinum neurotoxins (BoNTs), produced after infection of wounds by Clostridium botulinum.
## Epidemiology
Prevalence is unknown. So far, about 700 cases have been reported worldwide.
## Clinical description
Clinical manifestations are similar to other forms of botulism (symmetrical cranial nerve palsy, followed by symmetrical descending flaccid motor paralysis) in particular those of foodborne botulism (see this term), except for the lack of gastrointestinal symptoms (nausea, vomiting, and diarrhea) and the possible presence of fever. The disease, formerly related to traumatic injury, or rarely to surgery, nowadays affects mainly intravenous drug users (IDUs), mostly adults in the fourth or fifth decade of life with a long history of use of injected (``skin popping'') or inhaled drugs and is related to contaminated material or to contaminated black tar heroin. Wound botulism is an infectious but non communicable disease. The incubation period, in case of traumatic injuries, is considered to be 7 to 14 days, but it is difficult to establish for IDUs, as they may inject drugs several times daily.
## Etiology
Wound botulism is due to the colonization of a wound, boil, abscess, or inoculation site by C. botulinum spores with subsequent germination and BoNT production in vivo, at the site of infection. The toxin reaches the neuromuscular junctions through the blood stream. The reported cases are related to C.botulinum type A and type B but one case has been related to C.botulinum type E.
## Diagnostic methods
Initial diagnosis of wound botulism is based on clinical suspicion in patients with a recent infected wound or history of drug use. Sometimes lesions are not apparent and the presence of deep-seated abscess or sinusitis should be considered. Definitive diagnosis requires laboratory investigations for the detection of BoNTs in serum and wounds. The detection of BoNT-producing Clostridia/i> in wound cultures is generally satisfactory for laboratory diagnosis. Analysis of stools and food may be useful to exclude other forms of botulism.
## Differential diagnosis
Differential diagnosis includes myasthenia gravis, Guillain-Barré syndrome (Miller-Fisher syndrome), Lambert-Eaton syndrome, and foodborne and adult intestinal botulism (see these terms).
## Management and treatment
Antitoxin therapy must be associated with supportive care in an intensive care unit (ICU). Antitoxin therapy is effective when it is administrated at the onset of symptoms. In Europe, the formulation currently available for adults is trivalent (anti A, B, E). A heptavalent (anti A to G) product is also available. In the USA, a bivalent (anti A, B) and a monovalent (anti E) antitoxin are available. Specific management of wound botulism includes surgical debridement of the wound with irrigation to remove the source of the toxin and antibiotic therapy with penicillin and metronidazole. Aminoglycoside and clindamycin should be avoided as they may exacerbate the neuromuscular blockade.
## Prognosis
With appropriate intensive care, prognosis is good; death occurs in only 7% of cases and results from respiratory failure. Wound botulism may recur in IDUs.
*[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-aminobutyric 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
|
Wound botulism
|
c1306794
| 26,501 |
orphanet
|
https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=178475
| 2021-01-23T17:41:53 |
{"mesh": ["D001906"], "umls": ["C1306794"], "icd-10": ["A05.1"], "synonyms": ["Cutaneous infectious botulism", "Cutaneous toxin-mediated botulism", "Inoculation botulism", "Skin infectious botulism", "Skin toxin-mediated botulism"]}
|
Poorly differentiated thyroid carcinoma
Other namesPDTC
SpecialtyOncology
Poorly differentiated thyroid carcinoma is malignant neoplasm of follicular cell origin showing intermediate histopathological patterns between differentiated and undifferentiated thyroid cancers.[1]
## Contents
* 1 Histopathology
* 2 Epidemiology
* 3 References
* 4 External links
## Histopathology[edit]
* Presence of small cells with round nuclei and scant cytoplasm with a diffuse solid pattern
* Round or oval nests (insulae) or in trabeculae.
* Solid growth and presence of microfollicles, some of which contain dense colloid.
* Extrathyroidal extension and blood vessel invasion
* Foci of necrosis,
* Larger than 5 cm in greatest diameter at diagnosis
## Epidemiology[edit]
* PDTC affects predominantly females about 55 years of age
## References[edit]
1. ^ Volante M, Collini P, Nikiforov YE, Sakamoto A, Kakudo K, Katoh R, Lloyd RV, LiVolsi VA, Papotti M, Sobrinho-Simoes M, Bussolati G, Rosai J (2007). "Poorly differentiated thyroid carcinoma: the Turin proposal for the use of uniform diagnostic criteria and an algorithmic diagnostic approach". Am J Surg Pathol. 31 (8): 1256–64. doi:10.1097/PAS.0b013e3180309e6a. PMID 17667551.
## External links[edit]
Classification
D
* ICD-10: C73
* ICD-9-CM: 193
* MeSH: D013964
* v
* t
* e
Tumours of endocrine glands
Pancreas
* Pancreatic cancer
* Pancreatic neuroendocrine tumor
* α: Glucagonoma
* β: Insulinoma
* δ: Somatostatinoma
* G: Gastrinoma
* VIPoma
Pituitary
* Pituitary adenoma: Prolactinoma
* ACTH-secreting pituitary adenoma
* GH-secreting pituitary adenoma
* Craniopharyngioma
* Pituicytoma
Thyroid
* Thyroid cancer (malignant): epithelial-cell carcinoma
* Papillary
* Follicular/Hurthle cell
* Parafollicular cell
* Medullary
* Anaplastic
* Lymphoma
* Squamous-cell carcinoma
* Benign
* Thyroid adenoma
* Struma ovarii
Adrenal tumor
* Cortex
* Adrenocortical adenoma
* Adrenocortical carcinoma
* Medulla
* Pheochromocytoma
* Neuroblastoma
* Paraganglioma
Parathyroid
* Parathyroid neoplasm
* Adenoma
* Carcinoma
Pineal gland
* Pinealoma
* Pinealoblastoma
* Pineocytoma
MEN
* 1
* 2A
* 2B
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-aminobutyric 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
|
Poorly differentiated thyroid cancer
|
c1266050
| 26,502 |
wikipedia
|
https://en.wikipedia.org/wiki/Poorly_differentiated_thyroid_cancer
| 2021-01-18T18:48:29 |
{"umls": ["C1266050"], "icd-9": ["193"], "icd-10": ["C73"], "wikidata": ["Q7228858"]}
|
Cerebrofacioarticular syndrome is a rare multiple congenital anomalies syndrome characterized by mild to severe intellectual disability, a distinctive facial gestalt (blepharophimosis, maxillary hypoplasia, telecanthus, microtia and atresia of the external auditory meatus) as well as skeletal and articular abnormalities (e.g. camptodactyly of the fingers, cutaneous syndactyly, talipes equinovarus, flexion contractures of the proximal interphalangeal joints, hip or elbow subluxation, joint laxity). Affected individuals also present neonatal hypotonia, variable respiratory manifestations, chronic feeding difficulties and gray matter heterotopia.
*[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-aminobutyric 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
|
Cerebrofacioarticular syndrome
|
c1832390
| 26,503 |
orphanet
|
https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=314679
| 2021-01-23T18:17:10 |
{"gard": ["5456"], "mesh": ["C536530"], "omim": ["601390", "615546"], "umls": ["C1832390"], "synonyms": ["Van Maldergem syndrome"]}
|
A rare, genetic primary bone dysplasia disorder characterized by disproportionate short stature with mesomelic short limbs, leg bowing, lumbar lordosis, brachydactyly, joint laxity and a waddling gait. Radiographs show platyspondyly with central protrusion of anterior vertebral bodies, kyphotic angulation and very short long bones with dysplastic epiphyses and flarred, irregular, cupped metaphyses.
*[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-aminobutyric 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
|
X-linked spondyloepimetaphyseal dysplasia
|
c1848097
| 26,504 |
orphanet
|
https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=93349
| 2021-01-23T19:11:00 |
{"gard": ["4979"], "mesh": ["C564714"], "omim": ["300106"], "umls": ["C1848097"], "icd-10": ["Q77.7"]}
|
## Clinical Features
In 2 kindreds Harvald et al. (1964) observed nonspherocytic hemolytic anemia due to deficiency of ATP-ase. At least 2 generations were affected in each family and father-son transmission was noted.
Inheritance
Hanel et al. (1971) restudied the families reported by Harvald et al. (1964) and concluded that the trait is an irregular dominant. Probably a minority of the heterozygotes have hemolytic anemia.
Inheritance \- Autosomal dominant Lab \- ATP-ase deficiency Heme \- Infrequent nonspherocytic hemolytic anemia ▲ 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-aminobutyric 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
|
ADENOSINE TRIPHOSPHATASE DEFICIENCY, ANEMIA DUE TO
|
c1863225
| 26,505 |
omim
|
https://www.omim.org/entry/102800
| 2019-09-22T16:45:17 |
{"mesh": ["C566311"], "omim": ["102800"]}
|
Cornell et al. (1984) reported Charcot-Marie-Tooth disease and sensorineural deafness in 3 sons of first-cousin parents of Asiatic Indian descent living in South Africa. Deafness had been recognized in infancy and normal speech never developed. The CMT disease was of a slow nerve conduction type. See 311070 for a syndrome that comprises optic atrophy in addition to nerve deafness and a Charcot-Marie-Tooth-like neuropathy and 118300 for a dominant form of the CMT-deafness syndrome.
The disorder hereditary motor and sensory neuropathy-Lom (HMSNL; 601455) has been described in Bulgarian Gypsies who were originally derived from India. The disorder resembles that described by Cornell et al. (1984) in an Indian family. HMSNL has been mapped to 8q24.
Mancardi et al. (1992) described 2 brothers with hereditary motor and sensory neuropathy with deafness, mental retardation, and absence of large myelinated fibers. In this family, as in that of Cornell et al. (1984), the parents were first cousins. Sabatelli et al. (1998) reported what appears to be the same disorder in 2 brothers, ages 11 and 13, with an early-onset HMSN, deafness, and mental retardation. Electrophysiologic studies showed marked reduction of motor and sensory conduction velocity and absence of sensory action potentials. Sural nerve biopsy, performed in both patients, showed absence of large myelinated fibers with normal density of small myelinated fibers without axonal degeneration. Signs of demyelination were found only in the younger patient. Parental consanguinity was suspected in their family. Sabatelli et al. (1998) proposed that this disorder is an autosomal recessive trait, although all reported cases have been males.
Inheritance \- Autosomal recessive Neuro \- Neuropathy Ears \- Sensorineural deafness ▲ 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-aminobutyric 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
|
NEUROPATHY, HEREDITARY MOTOR AND SENSORY, WITH DEAFNESS, MENTAL RETARDATION, AND ABSENT SENSORY LARGE MYELINATED FIBERS
|
c1861669
| 26,506 |
omim
|
https://www.omim.org/entry/214370
| 2019-09-22T16:29:47 |
{"mesh": ["C538078"], "omim": ["214370"], "orphanet": ["90103"], "synonyms": ["CHARCOT-MARIE-TOOTH DISEASE AND DEAFNESS", "Hereditary motor and sensory neuropathy with deafness, intellectual disability and absent sensory large myelinated fibers", "Alternative titles", "DEAFNESS WITH CHARCOT-MARIE-TOOTH DISEASE"]}
|
A rare acquired lipodystrophy characterized by bilateral, symmetrical lipoatrophy of the upper body (face, neck, arms, thorax and sometimes upper abdomen) with sparing of the lower extremities and cephalothoracic progression. The disease may be associated with low serum levels of C3 and presence of C3-nephritic factor.
## Epidemiology
The prevalence in Europe is less than 1/100 000. There is a female predominance with a female-to-male ratio of 4:1.
## Clinical description
Onset typically occurs during childhood or adolescence but may occur as late as the fourth or fifth decade of life. Lipoatrophy is slowly progressive, starts on the face and then extends downwards to the neck, shoulders, upper limbs and/or thorax. The hips, thighs, distal legs and gluteal regions are initially normal, however, lipohypertrophy may present post-puberty, especially in females. Mesangiocapillary glomerulonephritis is reported in one third of patients and is associated with low complement-component 3 (C3) serum levels and the presence of C3-nephritic factor. Whilst there is an increased risk of insulin resistance and metabolic complications (including menstrual irregularities, hirsutism, diabetes mellitus, dyslipidemia, hypertension and hepatic steatosis), these are less frequently observed compared to other types of lipodystrophies. Occasionally, functional anomalies including sensorineural deafness, epilepsy, intellectual deficit, myopathy and retinal changes may be associated.
## Etiology
Whilst the etiology is unknown, susceptibility has been linked to heterozygous mutations in the LMNB2 (19p12.3) gene, encoding the lamin B2 nuclear envelope protein. Nevertheless, this mutation is very inconstant. Moreover, the frequently early occurrence of the disease suggests yet unknown genetic causes, perhaps involved in the innate immunity.
## Diagnostic methods
Diagnosis is essentially based on the characteristic subcutaneous fat loss pattern. Physical examination (including skin fold thickness measurements) and MRI studies are important to assess fat loss distribution. Measurement of serum complements and autoantibodies (low C3 and presence of C3-nephritic factor), absence of family history of lipodystrophy, an onset during childhood/adolescence, and biopsy may support diagnosis. Clinical judgement should be used for screening for co-morbidities.
## Differential diagnosis
Differential diagnosis includes anorexia nervosa, cachexia, starvation, diencephalic syndrome, multiple symmetric lipomatosis and other rare progeroid syndromes and disorders affecting growth and development. In addition, other forms of acquired lipodystrophy observed may be associated with a broad spectrum of autoimmune diseases, including systemic lupus erythematosus, juvenile dermatomyositis, celiac disease, or pernicious anemia and vasculitis.
## Management and treatment
Surgical management of the lipodystrophy is feasible, and is mainly aimed at aesthetic improvement. Treatment of the metabolic manifestations, if present, should follow the same guidelines as those used for other forms of insulin resistance: physical exercise, insulin-sensitizing medication (metformin or, if available, glitazones), agonists of GLP1 receptor, and finally insulin (or preferably insulin analogues)) and management of the hypertension and hypertriglyceridemia. Nephrological follow-up should also be recommended. Metreleptin, indication authorized in Europe, may be considered for hypoleptinemic patients with severe metabolic derangements, where other treatments have failed to achieve adequate metabolic control.
## Prognosis
The prognosis is largely unknown but greatly depends on the extent of the nephropathy, which may progress to renal insufficiency.
*[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-aminobutyric 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
|
Acquired partial lipodystrophy
|
c0220989
| 26,507 |
orphanet
|
https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=79087
| 2021-01-23T19:07:57 |
{"gard": ["10509"], "mesh": ["C562448"], "omim": ["608709"], "umls": ["C0220989"], "icd-10": ["E88.1"], "synonyms": ["Barraquer-Simons syndrome", "Progressive cephalothoracic lipodystrophy"]}
|
A rare non-malformative gynecological disease affecting pre-menopausal women usually following treatment with ovarian stimulating hormones, characterized by ovarian enlargement and, to varying degrees, shift of serum from the intravascular space to the third space, mainly into the peritoneal, pleural, and to a lesser extent to the pericardial cavities. Presenting symptoms include abdomen distention, pain, nausea, and vomiting. Severity ranges from mild to life-threatening and is complicated by increased risk of thrombosis, acute hepato-renal failure, acute respiratory distress syndrome, and ovarian torsion and rupture.
*[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-aminobutyric 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
|
Ovarian hyperstimulation syndrome
|
c0085083
| 26,508 |
orphanet
|
https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=64739
| 2021-01-23T18:17:16 |
{"mesh": ["D016471"], "omim": ["608115"], "umls": ["C0085083"], "icd-10": ["N98.1"], "synonyms": ["OHSS"]}
|
Spondylocostal dysostosis-hypospadias-intellectual disability syndrome is a rare, genetic, bone developmental disorder characterized by generalized vertebral segmentation and fusion defects, disproportionate short stature (with predominant truncal shortness) and thoracolumbar scoliosis, associated with mild intellectual disability, hypospadias, partial cutaneous finger syndactyly and mild swan neck-like deformities of the fingers.
*[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-aminobutyric 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
|
Spondylocostal dysostosis-hypospadias-intellectual disability syndrome
|
None
| 26,509 |
orphanet
|
https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=329252
| 2021-01-23T16:59:15 |
{}
|
For a phenotypic description and a discussion of genetic heterogeneity of psoriasis, see PSORS1 (177900).
Mapping
In a 12.5-cM genomewide scan for psoriasis susceptibility loci by recombination-based tests, Nair et al. (1997) suggestive linkage to a novel region on chromosome 16q (PSORS8). A maximum lod score of 2.50 was achieved at marker D16S3110 (theta = 0.15, P = 0.00034) under the recessive model. Nair et al. (1997) also confirmed linkage to the HLA region (maximum lod = 3.52) (PSORS1) and distal 17q (PSORS2; 602723), and found suggestive linkage to a region on 20p.
To confirm previously reported linkages to psoriasis, the International Psoriasis Genetics Consortium (2003) analyzed 942 affected sib pairs (ASPs) from 710 pedigrees for 53 polymorphic microsatellites spanning 14 psoriasis candidate regions. Maximum lod score (MLS) analysis of ASPs yielded allele sharing of 60% for markers within the MHC. Across the remainder of the genome, the strongest evidence of allele sharing was obtained on 16q and 10q22-q23. In agreement with previous studies, strong linkage disequilibrium was also observed between psoriasis and the MHC. The authors identified 2 psoriasis-associated MHC haplotypes with the haplotype-based TDT. Analysis of only those families carrying either of these haplotypes significantly increased the 16q lod score from 1.3 to 2.4. These results underscored the importance of the MHC in psoriasis and provided a rationale for examination of candidate regions on chromosomes 16q and 10q in more detail.
Nair et al. (1997) noted that the PSORS8 region overlaps a susceptibility locus for Crohn disease (IBD1; 266600) and contains the NOD2/CARD15 gene (605956). Nair et al. (1997) noted that psoriasis is more common in patients with Crohn disease than in controls, suggesting that an immunomodulatory locus capable of influencing both diseases may reside in this region. The International Psoriasis Genetics Consortium (2003) noted that mutation analysis and lack of association between CARD15 alleles and psoriasis (Nair et al., 2001; Borgiani et al., 2002; Young et al., 2003) together with its localization, which is at least 8 cM proximal to the marker D16S3034, would appear to eliminate CARD15 as a likely psoriasis candidate gene in this region. They concluded that taken together, these findings strengthened the argument for further investigation of the 16q region in conferring susceptibility to psoriasis, since the mechanism is likely to be distinct from that contributing to Crohn 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-aminobutyric 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
|
PSORIASIS 8, SUSCEPTIBILITY TO
|
c1853143
| 26,510 |
omim
|
https://www.omim.org/entry/610707
| 2019-09-22T16:04:12 |
{"omim": ["610707"]}
|
Avoidant personality disorder
Other namesAnxious personality disorder
SpecialtyPsychiatry, clinical psychology
Personality disorders
Cluster A (odd)
* Paranoid
* Schizoid
* Schizotypal
Cluster B (dramatic)
* Antisocial
* Borderline
* Histrionic
* Narcissistic
Cluster C (anxious)
* Avoidant
* Dependent
* Obsessive–compulsive
Not specified
* Depressive
* Haltlose
* Immature
* Passive–aggressive
* Cyclothymic
* Psychopathy
* v
* t
* e
Avoidant personality disorder (AvPD) is a Cluster C personality disorder. As the name suggests, the main coping mechanism of those with AvPD is avoidance of feared stimuli.[1]
Those affected display a pattern of severe social anxiety, social inhibition, feelings of inadequacy and inferiority, extreme sensitivity to negative evaluation and rejection, and avoidance of social interaction despite a strong desire for intimacy.[2]
People with AvPD often consider themselves to be socially inept or personally unappealing and avoid social interaction for fear of being ridiculed, humiliated, rejected, or disliked. They often avoid becoming involved with others unless they are certain they will be liked.
Childhood emotional neglect (in particular, the rejection of a child by one or both parents) and peer group rejection are associated with an increased risk for its development; however, it is possible for AvPD to occur without any notable history of abuse or neglect.[3]
## Contents
* 1 Signs and symptoms
* 1.1 Comorbidity
* 2 Causes
* 3 Subtypes
* 3.1 Millon
* 3.2 Others
* 4 Diagnosis
* 4.1 ICD
* 4.2 DSM
* 4.3 Differential diagnosis
* 5 Treatment
* 6 Prognosis
* 7 Controversy
* 8 Epidemiology
* 9 History
* 10 See also
* 11 References
* 12 External links
## Signs and symptoms[edit]
Avoidant individuals are preoccupied with their own shortcomings and form relationships with others only if they believe they will not be rejected. They often view themselves with contempt, while showing an increased inability to identify traits within themselves that are generally considered as positive within their societies.[4] Loss and social rejection are so painful that these individuals will choose to be alone rather than risk trying to connect with others.
Some with this disorder fantasize about idealized, accepting and affectionate relationships due to their desire to belong. They often feel themselves unworthy of the relationships they desire, and shame themselves from ever attempting to begin them. If they do manage to form relationships, it is also common for them to preemptively abandon them due to fear of the relationship failing.[5]
Individuals with the disorder tend to describe themselves as uneasy, anxious, lonely, unwanted and isolated from others.[6] They often choose jobs of isolation in which they do not have to interact with others regularly. Avoidant individuals also avoid performing activities in public spaces due to their fear of embarrassing themselves in front of others.
Symptoms include:
* Extreme shyness or anxiety in social situations, though the person feels a strong desire for close relationships[7]
* Heightened attachment-related anxiety, which may include a fear of abandonment[8]
* Substance abuse and/or dependence[9][10][11]
### Comorbidity[edit]
AvPD is reported to be especially prevalent in people with anxiety disorders, although estimates of comorbidity vary widely due to differences in (among others) diagnostic instruments. Research suggests that approximately 10–50% of people who have panic disorder with agoraphobia have avoidant personality disorder, as well as about 20–40% of people who have social anxiety disorder. In addition to this, AvPD is more prevalent in people who have comorbid social anxiety disorder and generalised anxiety disorder than in those who have only one of the aforementioned conditions.[12]
Some studies report prevalence rates of up to 45% among people with generalized anxiety disorder and up to 56% of those with obsessive-compulsive disorder.[13] Posttraumatic stress disorder is also commonly comorbid with avoidant personality disorder.[14]
Avoidants are prone to self-loathing and, in certain cases, self-harm. In particular, avoidants who have comorbid PTSD have the highest rates of engagement in self-harming behavior, outweighing even those with borderline personality disorder (with or without PTSD).[14] Substance use disorders are also common in individuals with AvPD—particularly in regard to alcohol, benzodiazepines and heroin[9]—and may significantly affect a patient's prognosis.[10][11]
Earlier theorists proposed a personality disorder with a combination of features from borderline personality disorder and avoidant personality disorder, called "avoidant-borderline mixed personality" (AvPD/BPD).[15]
## Causes[edit]
Causes of AvPD are not clearly defined,[16] but appear to be influenced by a combination of social, genetic and psychological factors. The disorder may be related to temperamental factors that are inherited.[17][18]
Specifically, various anxiety disorders in childhood and adolescence have been associated with a temperament characterized by behavioral inhibition, including features of being shy, fearful and withdrawn in new situations.[19] These inherited characteristics may give an individual a genetic predisposition towards AvPD.[20]
Childhood emotional neglect[21][22][23][24] and peer group rejection[25] are both associated with an increased risk for the development of AvPD.[17] Some researchers believe a combination of high-sensory-processing sensitivity coupled with adverse childhood experiences may heighten the risk of an individual developing AvPD.[26]
## Subtypes[edit]
### Millon[edit]
Psychologist Theodore Millon notes that because most patients present a mixed picture of symptoms, their personality disorder tends to be a blend of a major personality disorder type with one or more secondary personality disorder types. He identified four adult subtypes of avoidant personality disorder.[27][28]
Subtype and description Personality traits
Phobic avoidant (including dependent features) General apprehensiveness displaced with avoidable tangible precipitant; qualms and disquietude symbolized by a repugnant and specific dreadful object or circumstances.
Conflicted avoidant (including negativistic features) Internal discord and dissension; fears dependence; unsettled; unreconciled within self; hesitating, confused, tormented, paroxysmic, embittered; unresolvable angst.
Hypersensitive avoidant (including paranoid features) Intensely wary and suspicious; alternately panicky, terrified, edgy, and timorous, then thin-skinned, high-strung, petulant, and prickly.
Self-deserting avoidant (including depressive features) Blocks or fragments self-awareness; discards painful images and memories; casts away untenable thoughts and impulses; ultimately jettisons self (suicidal).[28]
### Others[edit]
In 1993, Lynn E. Alden and Martha J. Capreol proposed two other subtypes of avoidant personality disorder:[29]
Subtype Features
Cold-avoidant Characterised by an inability to experience and express positive emotion towards others.
Exploitable-avoidant Characterised by an inability to express anger towards others or to resist coercion from others. May be at risk for abuse by others.
## Diagnosis[edit]
### ICD[edit]
The World Health Organization's ICD-10 lists avoidant personality disorder as anxious (avoidant) personality disorder (F60.6).
It is characterized by the presence of at least four of the following:[1]
* persistent and pervasive feelings of tension and apprehension;
* belief that one is socially inept, personally unappealing, or inferior to others;
* excessive preoccupation with being criticized or rejected in social situations;
* unwillingness to become involved with people unless certain of being liked;
* restrictions in lifestyle because of need to have physical security;
* avoidance of social or occupational activities that involve significant interpersonal contact because of fear of criticism, disapproval, or rejection.
Associated features may include hypersensitivity to rejection and criticism.
It is a requirement of ICD-10 that all personality disorder diagnoses also satisfy a set of general personality disorder criteria.
### DSM[edit]
The Diagnostic and Statistical Manual of Mental Disorders (DSM) of the APA also has an avoidant personality disorder diagnosis (301.82). It refers to a widespread pattern of inhibition around people, feeling inadequate and being very sensitive to negative evaluation. Symptoms begin by early adulthood and occur in a range of situations.
Four of the following seven specific symptoms should be present:[2]
* Avoids occupational activities that involve significant interpersonal contact, because of fears of criticism, disapproval, or rejection
* is unwilling to get involved with people unless certain of being liked
* shows restraint within intimate relationships because of the fear of being shamed or ridiculed
* is preoccupied with being criticized or rejected in social situations
* is inhibited in new interpersonal situations because of feelings of inadequacy
* views self as socially inept, personally unappealing, or inferior to others
* is unusually reluctant to take personal risk or to engage in any new activities because they may prove embarrassing
### Differential diagnosis[edit]
In contrast to social anxiety disorder, a diagnosis of avoidant personality disorder (AvPD) also requires that the general criteria for a personality disorder are met.
According to the DSM-5, avoidant personality disorder must be differentiated from similar personality disorders such as dependent, paranoid, schizoid, and schizotypal. But these can also occur together; this is particularly likely for AvPD and dependent personality disorder. Thus, if criteria for more than one personality disorder are met, all can be diagnosed.[2]
There is also an overlap between avoidant and schizoid personality traits (see Schizoid avoidant behavior) and AvPD may have a relationship to the schizophrenia spectrum.[30]
## Treatment[edit]
Treatment of avoidant personality disorder can employ various techniques, such as social skills training, psychotherapy, cognitive therapy, and exposure treatment to gradually increase social contacts, group therapy for practicing social skills, and sometimes drug therapy.[31]
A key issue in treatment is gaining and keeping the patient's trust since people with an avoidant personality disorder will often start to avoid treatment sessions if they distrust the therapist or fear rejection. The primary purpose of both individual therapy and social skills group training is for individuals with an avoidant personality disorder to begin challenging their exaggerated negative beliefs about themselves.[32]
Significant improvement in the symptoms of personality disorders is possible, with the help of treatment and individual effort.[33]
## Prognosis[edit]
Being a personality disorder, which is usually chronic and has long-lasting mental conditions, an avoidant personality disorder is not expected to improve with time without treatment. Given that it is a poorly studied personality disorder and in light of prevalence rates, societal costs, and the current state of research, AvPD qualifies as a neglected disorder.[34]
## Controversy[edit]
There is controversy as to whether avoidant personality disorder (AvPD) is distinct from generalized social anxiety disorder. Both have similar diagnostic criteria and may share a similar causation, subjective experience, course, treatment and identical underlying personality features, such as shyness.[35][36][37]
It is contended by some that they are merely different conceptualisations of the same disorder, where avoidant personality disorder may represent the more severe form.[38][39] In particular, those with AvPD experience not only more severe social phobia symptoms, but are also more depressed and more functionally impaired than patients with generalized social phobia alone.[39] But they show no differences in social skills or performance on an impromptu speech.[40] Another difference is that social phobia is the fear of social circumstances whereas AvPD is better described as an aversion to intimacy in relationships.[31]
## Epidemiology[edit]
Data from the 2001–02 National Epidemiologic Survey on Alcohol and Related Conditions indicates a prevalence of 2.36% in the American general population.[41] It appears to occur with equal frequency in males and females.[42] In one study, it was seen in 14.7% of psychiatric outpatients.[43]
## History[edit]
The avoidant personality has been described in several sources as far back as the early 1900s, although it was not so named for some time. Swiss psychiatrist Eugen Bleuler described patients who exhibited signs of avoidant personality disorder in his 1911 work Dementia Praecox: Or the Group of Schizophrenias.[44] Avoidant and schizoid patterns were frequently confused or referred to synonymously until Kretschmer (1921),[45] in providing the first relatively complete description, developed a distinction.
## See also[edit]
* Psychology portal
* Attachment theory
* Avoidance coping
* Counterphobic attitude
* Experiential avoidance
* Inferiority complex
* Sensory processing sensitivity
Social:
* Hermit
* Hikikomori
* Loner
* Recluse
* Solitude
* Taijin kyofusho
## References[edit]
1. ^ a b Anxious [avoidant personality disorder] in ICD-10: Diagnostic Criteria Archived 2016-06-18 at the Wayback Machine and Clinical descriptions and guidelines. Archived 2014-03-23 at the Wayback Machine
2. ^ a b c "Alternative DSM-5 Model for Personality Disorders". Diagnostic and Statistical Manual of Mental Disorders (Fifth ed.). American Psychiatric Association. 2013. pp. 234–236. doi:10.1176/appi.books.9780890425596.156852. ISBN 978-0-89042-555-8.
3. ^ "Avoidant Personality Disorder – Environmental Factors". Archived from the original on 2014-10-28. Retrieved 2013-07-22.
4. ^ Will, Retzlaff, ed. (1995). p. 97
5. ^ Hoeksema, Nolen (2014). Abnormal Psychology (6th ed.). McGraw Education. p. 275. ISBN 9781308211503.
6. ^ Millon, Theodore; Davis, Roger D. (1996). Disorders of Personality: DSM-IV and Beyond, 2nd Edition. p. 263.
7. ^ Gary Gilles M.A.; Paula Ford-Martin M.A. (2003). "Avoidant personality disorder". Healthline Networks. Archived from the original on 2007-09-28. Retrieved 2006-02-26.
8. ^ Eikenaes, Ingeborg; Pedersen, Geir; Wilberg, Theresa (September 2016). "Attachment styles in patients with avoidant personality disorder compared with social phobia". Psychology and Psychotherapy. 89 (3): 245–260. doi:10.1111/papt.12075. hdl:10852/50233. ISSN 2044-8341. PMID 26332087.
9. ^ a b Verheul, R (2001-08-01). "Co-morbidity of personality disorders in individuals with substance use disorders". European Psychiatry. 16 (5): 274–282. doi:10.1016/S0924-9338(01)00578-8. PMID 11514129.
10. ^ a b "Personality disorders and substance use - National Drug Strategy" (PDF). National Drug Strategy. Archived (PDF) from the original on 2018-03-27.
11. ^ a b "Personality + substance use" (PDF). National Drug and Alcohol Research Centre. Archived (PDF) from the original on 2017-12-04.
12. ^ Sanderson, William C.; Wetzler, Scott; Beck, Aaron T.; Betz, Frank (February 1994). "Prevalence of personality disorders among patients with anxiety disorders". Psychiatry Research. 51 (2): 167–174. doi:10.1016/0165-1781(94)90036-1. PMID 8022951. S2CID 13101675.
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14. ^ a b Gratz, Kim L.; Tull, Matthew T. (2012-08-30). "Exploring the relationship between posttraumatic stress disorder and deliberate self-harm: the moderating roles of borderline and avoidant personality disorders". Psychiatry Research. 199 (1): 19–23. doi:10.1016/j.psychres.2012.03.025. ISSN 0165-1781. PMC 3407331. PMID 22521897.
15. ^ Kantor, M. (1993, revised 2003). Distancing: A Guide to Avoidance and Avoidant Personality Disorder. Westport, Conn: Praeger Publishers.
16. ^ Sederer, Lloyd I. (2009). Blueprints psychiatry (5th ed.). Philadelphia: Wolters Kluwer/Lippincott Williams & Wilkins. p. 29. ISBN 978-0-7817-8253-1.
17. ^ a b Eggum, Natalie D.; Eisenberg, Nancy; Spinrad, Tracy L.; Valiente, Carlos; Edwards, Alison; Kupfer, Anne S.; Reiser, Mark (2009). "Predictors of withdrawal: Possible precursors of avoidant personality disorder". Development and Psychopathology. 21 (3): 815–38. doi:10.1017/S0954579409000443. PMC 2774890. PMID 19583885.
18. ^ Rettew, David C.; Michael S Jellinek; Alicia C Doyle (March 4, 2008). "Avoidant Personality Disorder". eMedicine. Archived from the original on 12 February 2010. Retrieved January 26, 2010. Cite journal requires `|journal=` (help)
19. ^ Suzanne M. Sutherland, M.D. (2006). "Avoidant Personality Disorder Causes, Frequency, Siblings and Mortality — Morbidity". Avoidant Personality Disorder. Armenian Medical Network. Archived from the original on 2007-09-30. Retrieved 2007-02-26.
20. ^ Lenzenweger, Mark F.; Clarkin, John F. (2005). Major Theories of Personality Disorder. Guilford Press. p. 69. ISBN 978-1-59385-108-8.
21. ^ Johnson, JG; Smailes, EM; Cohen, P; Brown, J; Bernstein, DP (2000). "Associations between four types of childhood neglect and personality disorder symptoms during adolescence and early adulthood: findings of a community-based longitudinal study". Journal of Personality Disorders. 14 (2): 171–87. doi:10.1521/pedi.2000.14.2.171. PMID 10897467.
22. ^ Joyce, Peter R.; McKenzie, Janice M.; Luty, Suzanne E.; Mulder, Roger T.; Carter, Janet D.; Sullivan, Patrick F.; Cloninger, C. Robert (2003). "Temperament, childhood environment and psychopathology as risk factors for avoidant and borderline personality disorders". Australian and New Zealand Journal of Psychiatry. 37 (6): 756–64. doi:10.1111/j.1440-1614.2003.01263.x. PMID 14636393.
23. ^ Johnson, J. G.; Cohen, P; Brown, J; Smailes, EM; Bernstein, DP (1999). "Childhood Maltreatment Increases Risk for Personality Disorders During Early Adulthood". Archives of General Psychiatry. 56 (7): 600–6. doi:10.1001/archpsyc.56.7.600. PMID 10401504.
24. ^ Battle, Cynthia L.; Shea, M. Tracie; Johnson, Dawn M.; Yen, Shirley; Zlotnick, Caron; Zanarini, Mary C.; Sanislow, Charles A.; Skodol, Andrew E.; et al. (2004). "Childhood Maltreatment Associated With Adult Personality Disorders: Findings From the Collaborative Longitudinal Personality Disorders Study". Journal of Personality Disorders. 18 (2): 193–211. doi:10.1521/pedi.18.2.193.32777. PMID 15176757.
25. ^ Sperry, Len (2003). "Avoidant Personality Disorder". Handbook of diagnosis and treatment of DSM-IV-TR personality disorders. Philadelphia: Brunner-Routledge. pp. 59–79. ISBN 978-0-415-93569-2.
26. ^ Meyer, Björn; Ajchenbrenner, Muriel; Bowles, David P. (December 2005). "Sensory sensitivity, attachment experiences, and rejection responses among adults with borderline and avoidant features". Journal of Personality Disorders. 19 (6): 641–658. doi:10.1521/pedi.2005.19.6.641. ISSN 0885-579X. PMID 16553560.
27. ^ Theodore Millon (2004): Chapter 6 – The Avoidant Personality (p.187). Personality Disorders in Modern Life. Archived 2017-02-07 at the Wayback Machine Wiley, 2nd Edition. ISBN 0-471-23734-5.
28. ^ a b Millon, Theodore (2015). "Personality Subtypes Summary". Institute for Advanced Studies in Personology and Psychopathology (millon.net). Archived from the original on 2017-06-21. Retrieved 2013-01-08.
29. ^ Peter D. McLean, Sheila R. Woody: Anxiety Disorders in Adults: An Evidence-Based Approach to Psychological Treatment. p. 129, ISBN 978-0-19-802759-1.
30. ^ David L. Fogelson; Keith Nuechterlein (2007). "Avoidant personality disorder is a separable schizophrenia-spectrum personality disorder even when controlling for the presence of paranoid and schizotypal personality disorders". Schizophrenia Research. 91 (1–3): 192–199. CiteSeerX 10.1.1.1019.5817. doi:10.1016/j.schres.2006.12.023. PMC 1904485. PMID 17306508.
31. ^ a b Comer, Ronald (2014). Fundamentals of abnormal psychology (PDF). New York, NY: Worth Publishers. pp. 424–427. ISBN 978-1-4292-9563-5.
32. ^ Eckleberry, Sharon C. (2000-03-25). "Dual Diagnosis and the Avoidant Personality Disorder". The Dual Diagnosis Pages: From Our Desk. Archived from the original on 2006-12-16. Retrieved 2007-02-06.
33. ^ "Personality Disorder - Treatment". Mind. Archived from the original on 2016-02-05. Retrieved 5 February 2016.
34. ^ Weinbrecht Anna, Schulze Lars, Boettcher Johanna, Renneberg Babette (2016). "Avoidant Personality Disorder: a Current Review". Current Psychiatry Reports. 18 (3): 29. doi:10.1007/s11920-016-0665-6. PMID 26830887. S2CID 34358884.CS1 maint: multiple names: authors list (link).
35. ^ Ralevski, E.; Sanislow, C. A.; Grilo, C. M.; Skodol, A. E.; Gunderson, J. G.; Tracie Shea, M.; Yen, S.; Bender, D. S.; et al. (2005). "Avoidant personality disorder and social phobia: distinct enough to be separate disorders?". Acta Psychiatrica Scandinavica. 112 (3): 208–14. doi:10.1111/j.1600-0447.2005.00580.x. PMID 16095476. S2CID 16517625.
36. ^ Nedic, Aleksandra; Zivanovic, Olga; Lisulov, Ratomir (2011). "Nosological status of social phobia: contrasting classical and recent literature". Current Opinion in Psychiatry. 24 (1): 61–6. doi:10.1097/YCO.0b013e32833fb5a6. PMID 20966756. S2CID 31505197.
37. ^ Reichborn-Kjennerud, T.; Czajkowski, N.; Torgersen, S.; Neale, M. C.; Orstavik, R. E.; Tambs, K.; Kendler, K. S. (2007). "The Relationship Between Avoidant Personality Disorder and Social Phobia: A Population-Based Twin Study". American Journal of Psychiatry. 164 (11): 1722–8. doi:10.1176/appi.ajp.2007.06101764. PMID 17974938. S2CID 23171568.
38. ^ Reich, James (2009). "Avoidant personality disorder and its relationship to social phobia". Current Psychiatry Reports. 11 (1): 89–93. doi:10.1007/s11920-009-0014-0. PMID 19187715. S2CID 40728363.
39. ^ a b Huppert, Jonathan D.; Strunk, Daniel R.; Ledley, Deborah Roth; Davidson, Jonathan R. T.; Foa, Edna B. (2008). "Generalized social anxiety disorder and avoidant personality disorder: structural analysis and treatment outcome". Depression and Anxiety. 25 (5): 441–8. doi:10.1002/da.20349. PMID 17618526. S2CID 9179813.
40. ^ Herbert JD, Hope DA, Bellack AS (1992). "Validity of the distinction between generalized social phobia and avoidant personality disorder". J Abnorm Psychol. 101 (2): 332–9. doi:10.1037/0021-843x.101.2.332. PMID 1583228.
41. ^ Grant, Bridget F.; Hasin, Deborah S.; Stinson, Frederick S.; Dawson, Deborah A.; Chou, S. Patricia; Ruan, W. June; Pickering, Roger P. (2004). "Prevalence, Correlates, and Disability of Personality Disorders in the United States". The Journal of Clinical Psychiatry. 65 (7): 948–58. doi:10.4088/JCP.v65n0711. PMID 15291684.
42. ^ American Psychiatric Association, ed. (2013). "Avoidant Personality Disorder, 301.82 (F60.6)". Diagnostic and Statistical Manual of Mental Disorders, Fifth Edition. American Psychiatric Publishing. pp. 672–675.
43. ^ Zimmerman, M.; Rothschild, L. & Chelminski, I. (2005). "The prevalence of DSM-IV personality disorders in psychiatric outpatients". The American Journal of Psychiatry. 162 (10): 1911–1918. doi:10.1176/appi.ajp.162.10.1911. PMID 16199838.
44. ^ Millon, Theodore; Martinez, Alexandra (1995). "Avoidant Personality Disorder". In Livesley, W. John (ed.). The DSM-IV Personality Disorders. Guilford Press. pp. 218. ISBN 978-0-89862-257-7.
45. ^ Kretschmer, Ernst (1921). Körperbau und Charakter. J. Springer.
## External links[edit]
Classification
D
* ICD-10: F60.6
* ICD-9-CM: 301.82
* MeSH: D010554
External resources
* MedlinePlus: 000940
* eMedicine: ped/189
* v
* t
* e
DSM personality disorders
DSM-III-R only
* Sadistic
* Self-defeating (masochistic)
DSM-IV only
Personality disorder not otherwise specified
Appendix B (proposed)
* Depressive
* Negativistic (passive–aggressive)
DSM-5
(Categorical
model)
Cluster A (odd)
* Paranoid
* Schizoid
* Schizotypal
Cluster B (dramatic)
* Antisocial
* Borderline
* Histrionic
* Narcissistic
Cluster C (anxious)
* Avoidant
* Dependent
* Obsessive-compulsive
DSM-5
Alternative hybrid categorical and dimensional model in Section III included to stimulate further research
* v
* t
* e
Personality disorders
Schizotypal
* Schizotypal
Specific
* Anankastic
* Anxious (avoidant)
* Dependent
* Dissocial
* Emotionally unstable
* Histrionic
* Paranoid
* Schizoid
*
Other
* Eccentric
* Haltlose
* Immature
* Narcissistic
* Passive–aggressive
* Psychoneurotic
Organic
* Organic
Unspecified
* Unspecified
*[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-aminobutyric 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
|
Avoidant personality disorder
|
c0004444
| 26,511 |
wikipedia
|
https://en.wikipedia.org/wiki/Avoidant_personality_disorder
| 2021-01-18T19:00:06 |
{"mesh": ["D010554"], "umls": ["C0004444"], "icd-10": ["F60.6"], "wikidata": ["Q509122"]}
|
Chromosome mutation of lukemic cells with 45 chromosomes or less
Hypodiploid acute lymphoblastic leukemia is the chromosome mutation of leukemic cells with 45 chromosomes or less. It has been determined that the prognosis of hypodiploid is much less than standard acute lymphoblastic leukemia.[1] The lower the chromosome count, the lower the survival rate. In a study documented by the American Society of Hematology 17 of 27 patients relapsed, which indicates poor treatment responsiveness of hypodiploid ALL.[2] Hypodiploid is an unfavorable karyotypic feature in childhood ALL.[3]
## References[edit]
1. ^ Nyla A. Heerema; James B. Nachman; Harland N. Sather; Martha G. Sensel; Mei K. Lee; Raymond Hutchinson; Beverly J. Lange; Peter G. Steinherz; Bruce Bostrom; Paul S. Gaynon; Fatih Uckun (December 15, 1999). "Hypodiploidy with Less Than 45 Chromosomes Confers Adverse Risk in Childhood Acute Lymphoblastic Leukemia: A Report from the Children's Cancer Group". Blood. 94 (12): 4036–45. PMID 10590047.
2. ^ CH Pui; AJ Carroll; SC Raimondi; VJ Land; WM Crist; JJ Shuster; DL Williams; DJ Pullen; MJ Borowitz; FG Behm (March 1, 1990). "Clinical Presentation, Karyotypic Characterization, and Treatment Outcome of Childhood Acute Lymphoblastic Leukemia with a Near-Haploid or Hypodiploid Less Than 45 Line". Blood. 75 (5): 1170–77. doi:10.1182/blood.V75.5.1170.1170.
3. ^ CH Pui; DL Williams; SC Raimondi; GK Rivera; AT Look; RK Dodge; SL George; FG Behm; WM Crist; SB Murphy (July 1, 1987). "Hypodiploidy Is Associated with a Poor Prognosis in Childhood Acute Lymphoblastic Leukemia". Blood. 70 (1): 247–53. doi:10.1182/blood.V70.1.247.247. PMID 3474042.
*[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-aminobutyric 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
|
Hypodiploid acute lymphoblastic leukemia
|
c2697638
| 26,512 |
wikipedia
|
https://en.wikipedia.org/wiki/Hypodiploid_acute_lymphoblastic_leukemia
| 2021-01-18T18:35:08 |
{"umls": ["C2697638"], "wikidata": ["Q17125930"]}
|
Congenital disorder of urinary system
Medullary sponge kidney
Other namesCacchi–Ricci disease
Medullary sponge as seen on an intravenous pyelogram
SpecialtyMedical genetics, nephrology
Medullary sponge kidney is a congenital disorder of the kidneys characterized by cystic dilatation of the collecting tubules in one or both kidneys. Individuals with medullary sponge kidney are at increased risk for kidney stones and urinary tract infection (UTI). Patients with MSK typically pass twice as many stones per year as do other stone formers without MSK. While having a low morbidity rate, as many as 10% of patients with MSK have an increased risk of morbidity associated with frequent stones and UTIs. While many patients report increased chronic kidney pain, the source of the pain, when a UTI or blockage is not present, is unclear at this time. Renal colic (flank and back pain) is present in 55% of patients. Women with MSK experience more stones, UTIs, and complications than men. MSK was previously believed not to be hereditary but there is more evidence coming forth that may indicate otherwise.[1][2]
## Contents
* 1 Signs and symptoms
* 1.1 Complications
* 2 Cause
* 3 Diagnosis
* 4 Treatment
* 5 Epidemiology
* 6 References
* 7 External links
## Signs and symptoms[edit]
Most cases are asymptomatic or are discovered during an investigation of blood in the urine. Symptomatic patients typically present as middle-aged adults with renal colic, kidney stones, nephrocalcinosis and/or recurrent urinary tract infections; however, MSK also may affect children very rarely. In addition to the typical clinical phenotype of recurrent stone disease, other clinical profiles have now been recognized, that is, an indolent, almost asymptomatic MSK, and a rare form characterized by intractable pain.[3]
### Complications[edit]
Complications associated with medullary sponge kidney include the following:
* Kidney stones[4]
* Urinary tract infection (UTI)[4]
* Blood in the urine[4]
* Distal renal tubular acidosis (Type 1 RTA)[4]
* Chronic kidney disease (rarely)[4]
* Marked chronic pain[4]
## Cause[edit]
In recent studies, insight has been obtained on the genetic basis of this disease, supporting the hypothesis that MSK is due to a disruption at the 'ureteric bud-metanephric mesenchyme' interface. This explains why so many tubular defects coexist in this disease, and particularly a distal tubular acidification defect of which the highly prevalent metabolic bone disease is one very important consequence. In addition to the typical clinical phenotype of recurrent stone disease, other clinical profiles have now been recognized, that is, an indolent, almost asymptomatic MSK, and a rare form characterized by intractable, excruciating pain.[5] It was previously believed that most cases of medullary sponge kidney were sporadic; however, recent studies show familial clustering of MSK is common and has an autosomal dominant inheritance, a reduced penetrance, and variable expressivity.[6][7] Other theories suggest that dilatation of a collecting duct may occur, caused by occlusion by uric acid during fetal life or resulting from tubular obstruction due to calcium oxalate calculi secondary to infantile hypercalciuria.[4]
A rare, autosomal recessive form is associated with Caroli disease.[4]
## Diagnosis[edit]
Classically, MSK is seen as hyperechoic papillae with clusters of small stones on ultrasound examination of the kidney or with an abdominal x-ray. The irregular (ectatic) collecting ducts are often seen in MSK, which are sometimes described as having a "paintbrush-like" appearance, are best seen on intravenous urography. However, IV urography has been largely replaced by contrast-enhanced, high-resolution helical CT with digital reconstruction.[8]
## Treatment[edit]
Often, aggressive treatment is unnecessary for people with MSK disease that does not cause any symptoms (asymptomatic).[8] In such cases, treatment may consist of maintaining adequate fluid intake, with the goal of decreasing the risk of developing kidney stones (nephrolithiasis).[8] Cases of recurrent kidney stone formation may warrant evaluation for possible underlying metabolic abnormalities.[8]
In patients with low levels of citrate in the urine (hypocitraturia) and incomplete distal renal tubular acidosis, treatment with potassium citrate helps prevent the formation of new kidney stones.[8] Urinary tract infections, when they occur, should also be treated.[8]
Patients with the more rare form of MSK marked by chronic pain typically require pain management. Non-obstructing stones in MSK can be associated with significant and chronic pain even if they're not passing. It is not certain what causes this pain, but researchers have proposed that the small numerous stones seen in MSK may cause obstruction of the small tubules and collecting ducts in the kidney. This pain can be constant, can often be debilitating and treatment is challenging. Narcotic medication, even in large quantities, is sometimes not adequate. Some success with pain control has been reported using laser lithotripsy (called "ureteroscopic laser papillotomy").[9]
## Epidemiology[edit]
In the general population, the frequency of medullary sponge kidney disease is reported to be 0.02–0.005%; that is, 1 in 5000 to 1 in 20,000. The frequency of medullary sponge kidney has been reported by various authors to be 12 – 21% in patients with kidney stones.[10] The disease is bilateral in 70% of cases.
## References[edit]
1. ^ "Medullary Sponge Kidney". Archived from the original on 7 August 2011. Retrieved 22 August 2012.
2. ^ Goldfarb DS (2013). "Evidence for inheritance of medullary sponge kidney". Kidney Int. 83 (2): 193–6. doi:10.1038/ki.2012.417. PMID 23364586.
3. ^ Gambaro G, Danza FM, Fabris A (2013). "Medullary Sponge Kidney". Curr Opin Nephrol Hypertens. 22 (4): 421–6. doi:10.1097/MNH.0b013e3283622b86. PMID 23680648.
4. ^ a b c d e f g h Ghosh, Amit K. "Medullary Sponge Kidney". Medscape Reference. Retrieved 1 January 2013.
5. ^ Gambaro, Giovanni; Danza, Francesco M.; Fabris, Antonia (July 2013). "Medullary sponge kidney". Current Opinion in Nephrology and Hypertension. 22 (4): 421–426. doi:10.1097/MNH.0b013e3283622b86. PMID 23680648.
6. ^ Fabris, Antonia; Lupo, Antonio; Ferraro, Pietro M; Anglani, Franca; Pei, York; Danza, Francesco M; Gambaro, Giovanni (2013). "Familial clustering of medullary sponge kidney is autosomal dominant with reduced penetrance and variable expressivity". Kidney International. 83 (2): 272–277. doi:10.1038/ki.2012.378. PMID 23223172.
7. ^ Goldfarb, David S (February 2013). "Evidence for inheritance of medullary sponge kidney". Kidney International. 83 (2): 193–196. doi:10.1038/ki.2012.417. PMID 23364586.
8. ^ a b c d e f Salant DJ]; Gordon CE (2012). "Chapter 284. Polycystic Kidney Disease and Other Inherited Tubular Disorders". Harrison's Principles of Internal Medicine (18th ed.). New York: McGraw-Hill. ISBN 978-0071748896.
9. ^ "What is Medullary Sponge Kidney?". Retrieved 21 May 2014.
10. ^ Ginalski, JM; Portmann L; Jaeger P (1990). "Does medullary sponge kidney cause nephrolithiasis?" (PDF). American Journal of Roentgenology. 155 (2): 299–302. doi:10.2214/ajr.155.2.2115256. PMID 2115256. Archived from the original (PDF) on 2011-06-01.
## External links[edit]
Classification
D
* ICD-10: Q61.5
* ICD-9-CM: 753.17
* MeSH: D007691
* DiseasesDB: 7915
External resources
* eMedicine: article/379323
* v
* t
* e
Congenital malformations and deformations of urinary system
Abdominal
Kidney
* Renal agenesis/Potter sequence, Papillorenal syndrome
* cystic
* Polycystic kidney disease
* Meckel syndrome
* Multicystic dysplastic kidney
* Medullary sponge kidney
* Horseshoe kidney
* Renal ectopia
* Nephronophthisis
* Supernumerary kidney
* Pelvic kidney
* Dent's disease
* Alport syndrome
Ureter
* Ectopic ureter
* Megaureter
* Duplicated ureter
Pelvic
Bladder
* Bladder exstrophy
Urethra
* Epispadias
* Hypospadias
* Posterior urethral valves
* Penoscrotal transposition
Vestigial
Urachus
* Urachal cyst
* Urachal fistula
* Urachal sinus
*[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-aminobutyric 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
|
Medullary sponge kidney
|
c0022681
| 26,513 |
wikipedia
|
https://en.wikipedia.org/wiki/Medullary_sponge_kidney
| 2021-01-18T18:42:19 |
{"gard": ["232"], "mesh": ["D007691"], "umls": ["C0022681"], "icd-9": ["753.17"], "icd-10": ["Q61.5"], "orphanet": ["1309"], "wikidata": ["Q119280"]}
|
Microcephaly-deafness-intellectual disability syndrome is characterised by microcephaly, deafness, intellectual deficit and facial dysmorphism (facial asymmetry, prominent glabella, low-set and cup-shaped ears, protruding lower lip, micrognathia). It has been described in a mother and her son. The mode of inheritance is probably 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-aminobutyric 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
|
Microcephaly-deafness-intellectual disability syndrome
|
c0796062
| 26,514 |
orphanet
|
https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=2533
| 2021-01-23T18:34:40 |
{"gard": ["230"], "mesh": ["C537326"], "omim": ["156620"], "umls": ["C0796062"], "icd-10": ["Q87.8"], "synonyms": ["Kawashima-Tsuji syndrome", "Microcephaly-hearing loss-intellectual disability syndrome"]}
|
A number sign (#) is used with this entry because autosomal recessive mental retardation-44 (MRT44) is caused by homozygous mutation in the METTL23 gene (615262) on chromosome 17q25.
Clinical Features
Reiff et al. (2014) reported a consanguineous kindred of Yemeni origin in which 7 individuals had intellectual disability and dysmorphic features. Detailed clinical features were available for 3 patients. Each had delayed psychomotor development, with walking at age 1.5 years, and moderate to severe cognitive impairment; 1 had autistic features. Two had controlled seizures. Brain imaging performed on 1 patient was normal. Dysmorphic features included flat occiput, large eyes, depressed nasal bridge, short, upturned nose, long philtrum, thin lips, and incomplete syndactyly. One patient had a cleft uvula and submucosal cleft palate.
Bernkopf et al. (2014) reported 2 unrelated consanguineous families with autosomal recessive mental retardation. Four Austrian sibs had delayed psychomotor development apparent after the first year of life but maintained a high level of functioning, with independent activities of daily living. The patients also had flat feet and 3 had prominent maxillae, a feature also present in a milder form in the mother. None had seizures. Brain imaging of 1 patient showed possibly increased volume of the subcallosal gray matter and decreased delineation of the basal ganglia. Two Pakistani sisters had similar features; the brain MRI of 1 sister showed decreased delineation of the basal ganglia region. Bernkopf et al. (2014) noted that the neurologic phenotype was milder in their patients compared to that reported by Reiff et al. (2014).
Mapping
By genomewide linkage analysis of a consanguineous Yemeni family with autosomal recessive intellectual disability, Reiff et al. (2014) found linkage to a 14.2-cM region on chromosome 17q25.1-q25.3 between markers rs820388 and rs4313838 (maximum lod score of 6.01).
Molecular Genetics
In affected members of a Yemeni family with autosomal recessive intellectual disability, Reiff et al. (2014) identified a homozygous truncating mutation in the METTL23 gene (615262.0001). The mutation was found using homozygosity mapping followed by exome sequencing of genes within the candidate region.
In affected members of 2 unrelated consanguineous families with a mild form of nonsyndromic MRT44, Bernkopf et al. (2014) identified 2 different homozygous truncating mutations in the METTL23 gene (615262.0002 and 615262.0003). The mutation in the first family was found by linkage analysis and exome sequencing of the candidate region. Overexpression of the mutant proteins resulted in the formation of protein aggregates of isoforms 1 and 2 in the cytoplasm. However, Bernkopf et al. (2014) suggested loss of protein function as a pathogenic mechanism.
INHERITANCE \- Autosomal recessive HEAD & NECK Head \- Flat occiput (in some patients) Face \- Long philtrum (in some patients) Eyes \- Bulging eyes (in some patients) Nose \- Short, upturned nose (in some patients) \- Depressed nasal bridge (in some patients) Mouth \- Thin lips (in some patients) SKELETAL Feet \- Pes planus (in some patients) NEUROLOGIC Central Nervous System \- Delayed psychomotor development \- Cognitive impairment, mild to severe \- Seizures (in some patients) \- Decreased delineation of the basal ganglia (in some patients) MISCELLANEOUS \- Onset in infancy \- Variable severity MOLECULAR BASIS \- Caused by mutation in the methyltransferase-like 23 gene (METTL23, 615262.0001 ) ▲ 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-aminobutyric 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
|
MENTAL RETARDATION, AUTOSOMAL RECESSIVE 44
|
c4014745
| 26,515 |
omim
|
https://www.omim.org/entry/615942
| 2019-09-22T15:50:31 |
{"doid": ["0060308"], "omim": ["615942"], "orphanet": ["88616"], "synonyms": ["AR-NSID", "NS-ARID"]}
|
Haglund's syndrome
SpecialtyPodiatry
Haglund's syndrome is a group of signs and symptoms consisting of Haglund's deformity (which is an exostosis of the posterior calcaneal tuberosity) in combination with retrocalcaneal bursitis.[1] It is often accompanied by Achilles tendinitis.[2]
Haglund's deformity typically presents with a prominent bump on the upper posterior calcaneus. Its causes are not fully understood. Treatment includes shoe adjustment, foot orthosis, physical therapy, medications, and in resistant cases surgical removal of the deformity.[2]
## References[edit]
1. ^ Soft tissue rheumatology. Oxford University Press, 2004. 2004-01-22. p. 450. ISBN 9780192630933.
2. ^ a b Vaishya, R.; Agarwal, A.K.; Azizi, A.T.; Vijay, V. (2016). "Haglund's syndrome: A commonly seen mysterious condition". Cureus. 8 (10). doi:10.7759/cureus.820.
*[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-aminobutyric 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
|
Haglund's syndrome
|
None
| 26,516 |
wikipedia
|
https://en.wikipedia.org/wiki/Haglund%27s_syndrome
| 2021-01-18T18:44:00 |
{"wikidata": ["Q451876"]}
|
## Clinical Features
Niimi et al. (1982) reported a girl with isolated deficiency of thyrotropin-releasing hormone (TRH; 613879). The parents were unrelated. She was seen at age 4 years for short stature. The authors suggested that TRH-synthesizing enzyme in the hypothalamus (Mitnick and Reichlin, 1972) may be deficient. It is now known that TRH is a peptide synthesized as such.
Katakami et al. (1984) described an 18-year-old girl with isolated TRH deficiency and suggested that hypothyroidism in this patient was due to dysfunction of hypothalamic TRH release. Foresti and Ferrari (1985) suggested that resistance of pituitary thyrotropes (TSH-producing pituitary cells) due to a receptor defect is a more likely explanation, and that direct serum determination of TRH is a valid way to diagnose TRH deficiency.
Skel \- Delayed skeletal maturation Growth \- Short stature Neuro \- Mental retardation Lab \- Thyrotropin-releasing hormone (TRH) deficiency \- Low thyroxin Inheritance \- Autosomal recessive Skin \- Dry skin Endocrine \- Hypothalamic hypothyroidism Voice \- Husky voice Misc \- Weakness GI \- Constipation ▲ 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-aminobutyric 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
|
THYROTROPIN-RELEASING HORMONE DEFICIENCY
|
c3887992
| 26,517 |
omim
|
https://www.omim.org/entry/275120
| 2019-09-22T16:21:41 |
{"omim": ["275120"], "orphanet": ["238670"], "synonyms": ["Isolated thyroliberin deficiency", "TRH DEFICIENCY", "Isolated TRH deficiency", "HYPOTHALAMIC HYPOTHYROIDISM", "Isolated TSH-releasing factor deficiency", "Alternative titles", "Isolated protirelin deficiency", "Isolated TRF deficiency", "Isolated prothyroliberin deficiency", "Isolated thyrotropin-releasing factor deficiency"]}
|
A number sign (#) is used with this entry because of evidence that right atrial isomerism (RAI) is caused by homozygous mutation in the GDF1 gene (602880) on chromosome 19p12.
Description
Right atrial isomerism is a severe complex congenital heart defect resulting from embryonic disruption of proper left-right axis determination. RAI is usually characterized by complete atrioventricular septal defect with a common atrium and univentricular AV connection, total anomalous pulmonary drainage, and transposition or malposition of the great arteries. Affected individuals present at birth with severe cardiac failure. Other associated abnormalities include bilateral trilobed lungs, midline liver, and asplenia, as well as situs inversus affecting other organs. Left atrial isomerism (LAI) is a related disorder with a somewhat better prognosis. LAI is characterized by bilateral superior vena cava, interruption of the intrahepatic portion of the inferior vena cava, partial anomalous pulmonary venous drainage, and ventricular septal defect. Patients with LAI may have polysplenia and bilateral bilobed lungs, as well as situs inversus affecting other organs. Both RAI and LAI malformation complexes have classically been referred to as Ivemark syndrome (summary by Eronen et al., 2004 and Kaasinen et al., 2010).
Clinical Features
Ivemark (1955) published a 4-part report of his investigation of the relationship between anomalies of the atrioventricular region and of the conotruncus. He noted that during embryogenesis the spleen is being formed while the heart is still in a stage of critical modeling. By selecting cases of cardiac malformation associated with absence of a spleen, Ivemark (1955) postulated that the uniformity of the material is based upon selecting the period when organogenesis of the heart went astray, rather than on similarities in morphology of the malformed hearts. Ivemark (1955) described the pathology of the splenic agenesis syndrome and reported 14 new cases with autopsy, as well as 55 cases collected from the literature. He also reported 4 new cases of multiple or rudimentary spleens occurring with cardiovascular anomalies, and 6 examples from the literature.
Simpson and Zellweger (1973) summarized various features of Ivemark syndrome. Hypoplasia of the spleen is sometimes the finding rather than aplasia. Congenital absence of the spleen is usually accompanied by complex cardiac malformations, malposition and maldevelopment of the abdominal organs, and abnormal lobation of the lungs. Heinz and Howell-Jolly bodies in the peripheral blood are hematologic signs of absent spleen.
A patient with the typical asplenia syndrome had a sib who at autopsy showed multiple accessory spleens, persistent atrioventricularis communis and partial transposition of the abdominal viscera (Polhemus and Schafer, 1952). In another family, 3 sibs had asplenia with cyanotic heart disease (Ruttenberg et al., 1964).
Chen and Monteleone (1977) reported 2 affected boys in one family and 2 first cousins in another. Overall empiric recurrence risk after birth of a single case is probably on the order of 5% or less. Hurwitz and Caskey (1982) reported affected brothers, bringing to 8 the number of families with multiple affected sibs. Congenital heart malformation and septicemia were features. They also reported an instance of parental consanguinity, bringing to 4 the number of such instances. They identified 32 cases among 4,059 autopsies done in a period of 21 years in the Texas Children's Hospital. All were seemingly sporadic. A male excess was noted in both familial and autopsy cases. The authors favored autosomal recessive inheritance with male preponderance.
The designation polysplenia syndrome is used for a complex association of abnormalities of the spleen and of visceral lateralization with congenital heart malformations (Moller et al., 1967; Rose et al., 1975). Visceral and cardiac situs may be disparate--so-called situs ambiguus. Polysplenia suggests bilateral 'left-sidedness' (Moller et al., 1967) and mirror imaging of the lungs is frequent such that both lungs have the appearance of the left lung, with 2 lobes and hyparterial bronchi. Anomalous pulmonary venous return is frequent. The hepatic segment of the inferior vena cava is often missing. Return of blood from the lower part of the body is by the azygous or hemiazygous system, a venous defect that occurs almost only in this syndrome. Cardiac defects include atrial and ventricular septal defects, pulmonic stenosis, endocardial cushion defects, and others.
Gatrad et al. (1984) described consanguinity with complex cardiac anomalies with situs ambiguus.
Rose et al. (1975) reported 2 sisters with the polysplenia syndrome, and Hallett et al. (1979) described 2 affected brothers. Arnold et al. (1983) reported an Amish family in which 5 persons in 2 generations showed congenital cardiac and visceral defects consistent with the polysplenia syndrome. The parents of 4 affected sibs were fourth cousins; a deceased sister of the father was affected. Families in which 1 person had the developmental complex with polysplenia and another person had it with asplenia (Polhemus and Schafer, 1952; Zlotogora and Elian, 1981; Niikawa et al., 1983) suggest that the asplenia and polysplenia syndromes are a single entity. Asplenia and polysplenia have similar cardiac anomalies, although asplenia tends to be associated with severe atrioventricular canal malformations and marked deficiency of the interventricular septum whereas with polysplenia the AV canal defects are usually less severe and there are greater abnormalities of the interatrial septum (Hutchins et al., 1983).
De la Monte and Hutchins (1985) reported sisters with polysplenia syndrome. Affected sibs were also reported by Arnold et al. (1983), Hallett et al. (1979), Niikawa et al. (1983), and Kawagoe et al. (1980).
Czeizel (1987) described 4 affected sibs among the offspring of a gypsy couple who were first cousins. One of the 4 had transposition of the great vessels. A second had a ventricular septal defect and an atrial septal defect, and a third had truncus communis and atrial septal defect (ASD). All showed intrauterine growth retardation.
Distefano et al. (1987) described 2 sibs, born to consanguineous Sicilian parents, who died of severe congenital heart disease. Both the brother and the sister had dextrocardia; however, only the girl had situs viscerum inversus. At necropsy she had a right spleen and right pulmonary isomerism (3 lobes in each lung, as commonly found in the asplenia syndrome). Thus, isolated dextrocardia, situs viscerum inversus, and the asplenia-polysplenia complex may be part of a single dysmorphogenetic process.
Rodriguez et al. (1991) reported a patient with polyasplenia and caudal deficiency including imperforate anus, ambiguous external genitalia, multiple contractures of the lower limbs with short femora, and agenesis of the corpus callosum. Although this patient apparently represents the first recognized case of agenesis of the corpus callosum in association with polyasplenia and caudal deficiency, the literature on 7 additional patients with polyasplenia and caudal deficiency was reviewed. The association of a laterality sequence with caudal deficiency may represent a distinct autosomal recessive entity.
Cesko et al. (1997) described 2 sibs with Ivemark syndrome. In both cases, absent spleen, symmetric liver, and trilobed lungs were associated with complex cardiac malformations. In the first infant, minor facial abnormalities were noted, including hypertelorism, low-set ears, and choanal stenosis. In the second case, the syndrome was diagnosed prenatally by fetal echocardiography at 20 weeks. Cesko et al. (1997) noted that fetal echocardiography is an effective means of prenatal detection of Ivemark syndrome.
Eronen et al. (2004) described a nonconsanguineous Finnish family in which 4 consecutive children, 1 female and 3 males, had right atrial isomerism. All 4 succumbed and underwent autopsy. Heart defects included single ventricle with dysplastic atrioventricular valve, total anomalous pulmonary venous drainage, and malposition of the great arteries with pulmonary stenosis. All had asplenia, large transverse liver located in the midline, and bilaterally trilobed lungs; 2 also had dextrocardia and abdominal situs inversus. Two sibs had no surgery and died as newborns; 2 had cardiac surgery and died before 2 years of age. No signs of cardiac or abdominal laterality defects were found in either parent.
Cytogenetics
Freeman et al. (1996) described a 6-year-old girl with a balanced 11;20 translocation (46,XX,t(11;20)(q13.1;q13.13)pat), asplenia, pulmonic stenosis, Hirschsprung disease, minor anomalies, and mental retardation. Fukushima et al. (1993) also reported an individual with situs abnormalities and a balanced chromosome rearrangement involving a breakpoint at 11q13. Freeman et al. (1996) stated that PCR analysis of microsatellite markers excluded uniparental disomy for chromosomes 11 and 20. Segregation analysis of markers in the 11q13 region in the proposita and her phenotypically normal carrier sibs did not show a unique combination of maternal and paternal alleles in the patient. Freeman et al. (1996) discussed several possible explanations for the simultaneous occurrence of situs abnormalities and a balanced 11;20 translocation: chance, further chromosome rearrangement in the patient, gene disruption and random situs determination, and gene disruption plus transmission of a recessive or imprinted allele from the mother.
Inheritance
Parental consanguinity in 3 families and 4 instances of multiple affected sibs (Simpson and Zellweger, 1973) supported autosomal recessive inheritance. The authors noted that most cases are sporadic.
Molecular Genetics
Using linkage analysis and a candidate gene approach, Kaasinen et al. (2010) identified compound heterozygosity for a nonsense mutation (C227X; 602880.0001) and a 1-bp insertion (602880.0004) in the GDF1 gene in 5 affected sibs from a Finnish family with RAI who were originally described by Eronen et al. (2004). The sibs' unaffected parents and 3 unaffected maternal aunts were each heterozygous for 1 of the mutations. The nonsense and frameshift mutations were found in heterozygosity in Finnish blood donors at a frequency of 1 and 2 in 346, respectively, and the nonsense mutation was also present in 1 of 271 UK Caucasian blood donors.
In a cohort of 2,871 probands with congenital heart disease, comprising 2,645 parent-offspring trios and 226 singletons, Jin et al. (2017) performed whole-exome sequencing and identified 1 proband (1-05386) with right isomerism who was compound heterozygous for mutations in the GDF1 gene: the C227X mutation and a 4-bp deletion (602880.0005). The patient exhibited abdominal heterotaxy and asplenia as well as multiple cardiac anomalies, including dextrocardia, double-outlet right ventricle, obstructed total anomalous pulmonary venous return, valvular and subvalvular pulmonary stenosis, persistent left superior vena cava, right-dominant atrioventricular canal, common atrium, and single ventricle.
History
In 6 children in whom orthotopic cardiac transplantation had been performed for severe visceroatrial heterotaxia, Britz-Cunningham et al. (1995) found mutations in the gene encoding connexin-43 (CX43; 121014). Four of 6 patients were compound heterozygotes for CX43 mutations, indicating autosomal recessive inheritance. However, several groups were unable to find CX43 mutations in patients with heterotaxy. Gebbia et al. (1996) studied a total of 38 cases of sporadic and familial heterotaxy and found no mutations in CX43. Splitt et al. (1997) found no mutations in 48 patients with visceroatrial heterotaxy attending U.K. Regional Paediatric Cardiology Centres. Debrus et al. (1997) screened the entire coding sequence and direct flanking sequences of the CX43 gene in a selected group of 25 patients (19 familial cases) with a wide variety of lateralization defects and cardiovascular malformations. They detected only a single-bp insertion in the 3-prime untranslated region of 1 patient. To test the possibility of mutations in other parts of the CX43 gene, the gene was located on the physical map of chromosome 6, and flanking polymorphic markers were genotyped. Haplotype analysis excluded the CX43 gene locus in nearly all of the familial cases of lateralization defects. Thus, the results of did not support the suggestion that this gene is implicated in human autosomal recessive lateralization defects. On the basis of analysis in the 3 previous reports and in 11 patients of their own, Toth et al. (1998) concluded that 'it is more and more likely that the results reported by Britz-Cunningham et al. (1995) were a laboratory artifact.' There had been a total of 78 cases of heterotaxy in which no CX43 mutation could be found in the 200 basepairs containing all of the nucleotide changes reported by Britz-Cunningham et al. (1995).
INHERITANCE \- Autosomal recessive CARDIOVASCULAR Heart \- Complex heart malformation \- Right atrial isomerism \- Dextrocardia \- Common atrium \- Anomalous pulmonary venous return \- Univentricular atrial-ventricular connection \- Atrioventricular septal defect \- Single ventricle with right ventricular morphology \- Malposition of the great arteries \- Pulmonary outflow tract obstruction \- Pulmonary stenosis \- Pulmonary atresia RESPIRATORY Lung \- Trilobulated lungs bilaterally (2 morphologic right lungs) ABDOMEN \- Situs inversus \- Situs ambiguous Liver \- Midline liver Spleen \- Asplenia MISCELLANEOUS \- Cardiac failure at birth \- Poor outcome \- One family with confirmed genetic basis has been reported (last curated September 2013) MOLECULAR BASIS \- Caused by mutation in the growth/differentiation factor 1 gene (GDF1, 602880.0001 ) ▲ 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-aminobutyric 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
|
RIGHT ATRIAL ISOMERISM
|
c0175707
| 26,518 |
omim
|
https://www.omim.org/entry/208530
| 2019-09-22T16:30:49 |
{"doid": ["0060856"], "mesh": ["D059446"], "omim": ["208530"], "orphanet": ["97548"], "synonyms": ["Alternative titles", "RIGHT ISOMERISM", "ASPLENIA WITH CARDIOVASCULAR ANOMALIES", "IVEMARK SYNDROME"]}
|
A number sign (#) is used with this entry because Fanconi anemia of complementation group P (FANCP) is caused by homozygous or compound heterozygous mutation in the SLX4 gene (613278) on chromosome 16p13.
Description
Fanconi anemia of complementation group P is an autosomal recessive disorder characterized by increased chromosomal instability and progressive bone marrow failure. Some patients have skeletal anomalies (summary by Kim et al., 2011).
For a general description and a discussion of genetic heterogeneity of Fanconi anemia (FA), see 227650.
Clinical Features
Stoepker et al. (2011) reported a Dutch boy, born of consanguineous parents, with growth retardation, microcephaly, hypopigmentation, thumb abnormalities, and hearing loss who was diagnosed with pancytopenia at age 9 years. He also had some dysmorphic facial features, including small almond-shaped eyes, bulbous nasal tip, and micrognathia. He had a hypopigmented spot on his back and no renal anomalies. Lymphocyte cultures showed increased spontaneous and induced chromosomal breakage and aberrations, consistent with Fanconi anemia. In a second family, 3 German sibs had growth retardation and pancytopenia. One had a horseshoe kidney, and another had cafe-au-lait spots, but otherwise no physical abnormalities were reported. Lymphoblasts from these patients were sensitive to mitomycin C but not camptothecin.
Kim et al. (2011) reported 2 unrelated patients with FANCP. One was a 15-year-old girl from south India who presented at age 9 years with isolated thrombocytopenia. She had short stature and vitiligo. The second was an American man of European descent with bilateral absent thumbs and right radial aplasia, pelvic kidney, undescended left testicle, malformed auricle, and short stature, as well as low platelets and anemia. He developed squamous cell carcinoma of the tongue at age 21 years and died at age 22. Lymphoblasts and fibroblasts from both patients showed variable chromosomal instability upon exposure to mitomycin C and camptothecin.
Molecular Genetics
In a Dutch boy, born of consanguineous parents, with FANCP, Stoepker et al. (2011) identified a homozygous truncating mutation in the SLX4 gene (613278.0001). The gene was chosen for study because of its known function as a scaffold protein in the DNA repair pathway. Stoepker et al. (2011) also identified compound heterozygous mutations in the SLX4 gene (613278.0002-613278.0003), which resulted in residual protein function, in 3 German sibs with a milder FANCP phenotype.
Kim et al. (2011) identified biallelic mutations in the SLX4 gene (613278.0004-613278.0006) in 2 unrelated patients with FANCP.
Animal Model
Crossan et al. (2011) found that Slx4-null mice recapitulated the features of Fanconi anemia in humans. Slx4-null mice were born at submendelian ratios and had greatly reduced fertility due to gonad dysfunction. Ovaries showed absence of oocytes, and testes showed progressive failure of spermatogenesis. Many mutant mice died soon after birth, and the survivors showed poor growth, with domed skulls and ocular anomalies. Mutant mice also showed blood cytopenia, indicating hematologic dysfunction. Cells derived from the mutant mice exhibited premature senescence, spontaneously accumulated damaged chromosomes, and were sensitive to DNA crosslinking agents, but not to UV radiation.
INHERITANCE \- Autosomal recessive GROWTH Height \- Short stature Other \- Growth retardation HEAD & NECK Head \- Microcephaly (1 patient) Face \- Micrognathia (1 patient) Ears \- Hearing loss (1 patient) \- Hypoplastic malleus (1 patient) \- Narrow external ear canals (1 patient) \- Malformed auricle (1 patient) Eyes \- Almond-shaped eyes (1 patient) \- Short palpebral fissures (1 patient) Nose \- Bulbous nasal tip (1 patient) GENITOURINARY Internal Genitalia (Male) \- Cryptorchidism (1 patient) Kidneys \- Pelvic kidney (1 patient) \- Horseshoe kidney (1 patient) SKELETAL Limbs \- Radial hypoplasia (1 patient) Hands \- Hypoplastic thumbs (1 patient) \- Absent thumbs (1 patient) SKIN, NAILS, & HAIR Skin \- Hypopigmentation spots \- Cafe-au-lait spots \- Vitiligo (1 patient) HEMATOLOGY \- Pancytopenia (4 patients) \- Thrombocytopenia, isolated (1 patient) \- Anemia NEOPLASIA \- Squamous cell carcinoma (1 patient) MISCELLANEOUS \- Six patients have been reported (5/18/2011) \- Highly variable severity MOLECULAR BASIS \- Caused by mutation in the BTB/POZ domain-containing protein 12 (BTBD12, 613278.0001 ) ▲ 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-aminobutyric 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
|
FANCONI ANEMIA, COMPLEMENTATION GROUP P
|
c0015625
| 26,519 |
omim
|
https://www.omim.org/entry/613951
| 2019-09-22T15:57:00 |
{"doid": ["0111092"], "mesh": ["D005199"], "omim": ["613951"], "orphanet": ["84"], "genereviews": ["NBK1401", "NBK5192"]}
|
This article needs more medical references for verification or relies too heavily on primary sources. Please review the contents of the article and add the appropriate references if you can. Unsourced or poorly sourced material may be challenged and removed.
Find sources: "Hemoglobinuria" – news · newspapers · books · scholar · JSTOR (September 2017)
Hemoglobinuria
Other namesHaemoglobinuria
Structure of hemoglobin
SpecialtyUrology, nephrology
Hemoglobinuria is a condition in which the oxygen transport protein hemoglobin is found in abnormally high concentrations in the urine.[1] The condition is often associated with any hemolytic anemia with primarily intravascular hemolysis, in which red blood cells (RBCs) are destroyed, thereby releasing free hemoglobin into the plasma. Excess hemoglobin is filtered by the kidneys, which excrete it into the urine, giving urine a purple color. Hemoglobinuria can lead to acute tubular necrosis which is an uncommon cause of a death of uni-traumatic patients recovering in the ICU .
## Contents
* 1 Causes
* 2 Diagnosis
* 3 See also
* 4 References
* 5 External links
## Causes[edit]
* Acute glomerulonephritis
* Burns
* Renal cancer
* Malaria
* Paroxysmal nocturnal hemoglobinuria
* Microangiopathies, e.g. hemolytic-uremic syndrome (HUS), thrombotic thrombocytopenic purpura (TTP) leading to microangiopathic hemolytic anemia
* Transfusion reactions
* IgM autoimmune hemolytic anemia
* Glucose-6-phosphate dehydrogenase deficiency
* Pyelonephritis
* Sickle cell anemia
* Tuberculosis of the urinary tract
* March hemoglobinuria secondary to repetitive impacts on the body, usually the feet
* Athletic nephritis secondary to strenuous exercise
* Acute lead poisoning
## Diagnosis[edit]
The diagnosis is often made based on the medical history, blood samples, and a urine sample. The absence of urine RBCs and RBC casts microscopically despite a positive dipstick test suggests hemoglobinuria or myoglobinuria. The medical term for RBCs in the urine is hematuria.
## See also[edit]
* Hematuria
## References[edit]
1. ^ Deters, A.; Kulozik, A. E. (2003). "Hemoglobinuria". Practical Algorithms in Pediatric Hematology and Oncology: 20–21. doi:10.1159/000069582. ISBN 3-8055-7432-0. Retrieved 20 October 2019.
## External links[edit]
Classification
D
* ICD-10: R82.3
* ICD-9-CM: 283.2, 791.2
* MeSH: D006456
* DiseasesDB: 19635
* v
* t
* e
Components and results of urine tests
Components
* Albumin
* Myoglobin
* hCG
* Leukocyte esterase
* Urine pregnancy test
* Ketone bodies
* Glucose
* Urobilinogen
* Bilirubin
* Creatinine
* RBC
* WBC
* Urinary casts
Chemical properties
* Urine specific gravity
* Isosthenuria
* Urine osmolality
* Hypersthenuria
* Urine pH
* Urine anion gap
Abnormal findings
Red blood cells
* Hematuria (Microscopic hematuria)
White blood cells
* Eosinophiluria
Proteinuria
* Albuminuria/Microalbuminuria
* Albumin/creatinine ratio
* Urine protein/creatinine ratio
* Myoglobinuria
* Hemoglobinuria
* Bence Jones protein
Small molecules
* Glycosuria
* Ketonuria
* Bilirubinuria
* Hyperuricosuria
* Aminoaciduria
Other
* Bacteriuria
* Chyluria
* Crystalluria
This article about a disease of the genitourinary 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-aminobutyric 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
|
Hemoglobinuria
|
c0019048
| 26,520 |
wikipedia
|
https://en.wikipedia.org/wiki/Hemoglobinuria
| 2021-01-18T19:04:50 |
{"mesh": ["D006456"], "umls": ["C0019048"], "wikidata": ["Q1553850"]}
|
Rhizomelic chondrodysplasia punctata is a condition that impairs the normal development of many parts of the body. The major features of this disorder include skeletal abnormalities, distinctive facial features, intellectual disability, and respiratory problems.
Rhizomelic chondrodysplasia punctata is characterized by shortening of the bones in the upper arms and thighs (rhizomelia). Affected individuals also have a specific bone abnormality called chondrodysplasia punctata, which affects the growth of the long bones and can be seen on x-rays. People with rhizomelic chondrodysplasia punctata often develop joint deformities (contractures) that make the joints stiff and painful.
Distinctive facial features are also seen with rhizomelic chondrodysplasia punctata. These include a prominent forehead, widely set eyes (hypertelorism), a sunken appearance of the middle of the face (midface hypoplasia), a small nose with upturned nostrils, and full cheeks. Additionally, almost all affected individuals have clouding of the lenses of the eyes (cataracts). The cataracts are apparent at birth (congenital) or develop in early infancy.
Rhizomelic chondrodysplasia punctata is associated with significantly delayed development and severe intellectual disability. Most children with this condition do not achieve developmental milestones such as sitting without support, feeding themselves, or speaking in phrases. Affected infants grow much more slowly than other children their age, and many also have seizures. Recurrent respiratory infections and life-threatening breathing problems are common. Because of their severe health problems, most people with rhizomelic chondrodysplasia punctata survive only into childhood. It is rare for affected children to live past age 10. However, a few individuals with milder features of the condition have lived into early adulthood.
Researchers have described three types of rhizomelic chondrodysplasia punctata: type 1 (RCDP1), type 2 (RCDP2), and type 3 (RCDP3). The types have similar features and are distinguished by their genetic cause.
## Frequency
Rhizomelic chondrodysplasia punctata affects fewer than 1 in 100,000 people worldwide. RCDP1 is more common than RCDP2 or RCDP3.
## Causes
Rhizomelic chondrodysplasia punctata results from mutations in one of three genes. Mutations in the PEX7 gene, which are most common, cause RCDP1. Changes in the GNPAT gene lead to RCDP2, while AGPS gene mutations result in RCDP3.
The genes associated with rhizomelic chondrodysplasia punctata are involved in the formation and function of structures called peroxisomes. Peroxisomes are sac-like compartments within cells that contain enzymes needed to break down many different substances, including fatty acids and certain toxic compounds. They are also important for the production of fats (lipids) used in digestion and in the nervous system.
Within peroxisomes, the proteins produced from the PEX7, GNPAT, and AGPS genes play roles in the formation (synthesis) of lipid molecules called plasmalogens. Plasmalogens are found in cell membranes throughout the body, although little is known about their function. Mutations in the PEX7, GNPAT, or AGPS genes prevent peroxisomes from making plasmalogens. Researchers are working to determine how problems with plasmalogen synthesis lead to the specific signs and symptoms of rhizomelic chondrodysplasia punctata.
### Learn more about the genes associated with Rhizomelic chondrodysplasia punctata
* AGPS
* GNPAT
* PEX7
## 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-aminobutyric 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
|
Rhizomelic chondrodysplasia punctata
|
c1859133
| 26,521 |
medlineplus
|
https://medlineplus.gov/genetics/condition/rhizomelic-chondrodysplasia-punctata/
| 2021-01-27T08:24:45 |
{"gard": ["13160", "6049"], "mesh": ["C531651"], "omim": ["215100", "222765", "600121"], "synonyms": []}
|
Coral disease
Example of black band disease progression on a colony of Diploria strigosa.
Black band disease is a coral disease in which corals develop a black band. It is characterized by complete tissue degradation due to a pathogenic microbial consortium.[1] The mat is present between apparently healthy coral tissue and freshly exposed coral skeleton.
## Contents
* 1 Appearance
* 2 Composition
* 3 Taxonomy
* 4 See also
* 5 References
* 6 External links
## Appearance[edit]
Black band disease on a brain coral in Caribbean Sea near Bahia de la Chiva on the island of Vieques, Puerto Rico
Black band disease was first observed on reefs in Belize in 1973 by A. Antonius, who described the pathogen he found infecting corals as Oscillatoria membranacea, one of the cyanobacteria.[2] The band color may be blackish brown to red depending on the vertical position of a cyanobacterial population associated with the band. The vertical position is based on a light intensity-dependent photic response of the cyanobacterial filaments, and the color (due to the cyanobacterial pigment phycoerythrin) is dependent on the thickness of the band. The band is approximately 1 millimeter (0.04 in) thick and ranges in width from 1 millimeter (0.04 in) to 7 centimeters (2.8 in) White specks may be present on surface, at times forming dense white patches. The pathogenic microbial mat moves across coral colonies at rates from 3 millimeters (0.12 in) to 1 centimeter (0.4 in) a day. Tissue death is caused by exposure to a hypoxic, sulfide-rich microenvironment associated with the base of the band.
## Composition[edit]
Buck Island Reef National Monument, 2010
The black band microbial consortium consists of an assortment of photosynthetic and non-photosynthetic bacteria that co-exist synergistically. The consortium has three functionally and physically dominant members as well as numerous heterotrophic members whose role in the disease is as yet unknown. The three functionally dominant members are populations of cyanobacteria and sulfide-oxidizing and sulfate-reducing bacteria. The black band disease microbial consortium is structurally and functionally identical to cyanobacterial-dominated microbial mats found in other illuminated, sulfide-rich environments[3][4]
## Taxonomy[edit]
Several species of cyanobacteria have been found associated with black band disease,[5][6] the most well-known of which is Phormidium corallyticum.[7] Sulfide-oxidizing bacteria, dominated by Beggiatoa spp.,[8] are present in well-developed bands and exhibit visible vertical migrations within the band matrix (Richardson, 1996; Viehman and Richardson, 2006). When present on the band surface Beggiatoa appears white due to intracellular inclusions of stored elemental sulfur. Sulfate-reducing bacteria dominated by Desulfovibrio spp.[5][6][8] are present at the base of the band and are responsible for producing high concentrations of sulfide within the band matrix.[9] Light microscopic observation of black band reveals motile (gliding) filaments of P. corallyticum that are 4 mm wide, with one round end and one narrow (sharply tapering) end. Also present are gliding Beggiatoa filaments (1–4 mm wide) that are non-pigmented but contain highly refractive intracellular granules of elemental sulfur. Numerous gram-negative bacteria (small rods) are also present but not identifiable using light microscopy. The bacterial population has been characterized using molecular techniques and was found to contain over 500 species of bacteria that are different from bacterial communities found in the water column, healthy coral tissue, or dead coral skeleton.[5][6] The functional role of this diverse population of bacteria is not known.
Black band disease affects 42 species of coral in a worldwide distribution. The only known reservoir is within cyanobacterial biofilms that are present on sediments in depressions of healthy black band disease susceptible corals.[4]
Black band disease significantly affects boulder star coral in the reef ecosystem, allowing for more staghorn coral to grow.
## See also[edit]
* Aspergillosis, caused by the fungus Aspergillus sydowii, affects Gorgonian soft corals commonly known as sea fans.
* White pox disease, caused by Serratia marcescens
* Black necrosing syndrome, or Dark spots disease, probably fungal.
* Brown band disease, or Red band disease, probably caused by protozoa (possibly Helicostoma nonatum) and cyanobacteria.
* Rapid Wasting, possibly caused by a fungus growing on areas damaged by the feeding of the Stoplight parrotfish.
* White band disease, the cause of this disease remains unknown.
* White plague, caused by the bacterium Aurantimonas coralicida.
* Skeletal Eroding Band, caused by the protozoan Halofolliculina corallasia.
* Yellow-band disease, possibly caused by a unidentified species of Vibrio
## References[edit]
1. ^ Hudson, JH (2000). "First aid for massive corals infected with black band disease, Phormidium corallyticum: An underwater aspirator and post-treatment sealant to curtail reinfection". In: Hallock and French (Eds). Diving for Science...2000. Proceedings of the American Academy of Underwater Sciences (20th annual Scientific Diving Symposium). Retrieved 2008-06-16.
2. ^ Antonius, A. (1973). "New observations on coral destruction in reefs". 10th Meeting Assoc. 1st. Mar. Lab. Carib. 10 (3 (abstract)).
3. ^ Richardson, L.L; R.G. Carlson (1993). "Behavioral and chemical aspects of Black Band disease of corals: An in situ field and laboratory study". In: Heine and Crane (Eds). Diving for Science...1993. Proceedings of the 13th Annual Scientific Diving Symposium. American Academy of Underwater Sciences: 107–116. Retrieved 2013-09-20.
4. ^ a b Richardson, L.L (1997). "Occurrence of the Black Band disease cyanobacterium on healthy corals of the Florida Keys". Bulletin of Marine Science. 61 (2): 485–490. Retrieved 2013-09-20.
5. ^ a b c Frias-Lopez, J., A. Zerkle, G. Bonheyo and B. Fouke (2002). "Partitioning of bacterial communities between seawater and healthy, black band diseased and dead coral surfaces". Applied and Environmental Microbiology, Vol. 68, pp 2214-2228
6. ^ a b c Cooney, R.P., O. Pantos, M. D. A. Le Tissier, M. R. Barer, A. G. O´Donnell, and J. C Bythell (2002) "Characterization of the bacterial consortium associated with black band disease in coral using molecular microbiological techniques". Environmental Microbiology, Vol 4 (7), pp 401, Jul 2002.
7. ^ Riitzler, K. and D.L. Santavy. (1983). "The Black Band disease of Atlantic reef corals. I. Description of the cyanophyte pathogen". P.S.Z.N.I. Mar. Ecol. 4 (4): 301–319. doi:10.1111/j.1439-0485.1983.tb00116.x.
8. ^ a b Ducklow and Mitchell, 1979. "Observations on naturally and artificially diseased tropical corals:scanning electron microscope study". Microbial Ecology, Vol.5, pp.215-223
9. ^ Carlton, R.G. and L.L. Richardson, 1995. "Oxygen and sulfide dynamics in a horizontally migrating cyanobacterial mat: Black band disease of corals". FEMS Microbiology Ecology, Vol18, pp. 155-162.
## External links[edit]
* NOAA website on coral (public domain)
* World Conservation Monitoring Centre Global Coral Disease Database
* v
* t
* e
Corals and coral reefs
Stony corals
* Blue
* Brain
* Elegance
* Elkhorn
* Hermatypic
* Chalice
* Pillar
* Staghorn
* Table
Soft corals
* Bamboo
* Black
* Organ pipe
* Sea fans
* Sea pens
Coral reefs
* Atoll
* Cay
* Coral
* Fringing
* Microatoll
* Coral reef fish
* Census of Coral Reefs
* The Structure and Distribution of Coral Reefs
* Catlin Seaview Survey
* Spur and groove formation
Coral regions
* List of reefs
* Deep-water coral
* African coral reefs
* Amazon Reef
* Andros, Bahamas
* Belize Barrier Reef
* Coral Sea Islands
* Coral Triangle
* East African coral coast
* Florida Keys National Marine Sanctuary
* Great Barrier Reef
* Maldives
* Mesoamerican Barrier Reef System
* New Caledonia barrier reef
* Pulley Ridge
* Raja Ampat Islands
* Red Sea
* Solomon Archipelago
* Southeast Asian coral reefs
Coral diseases
* Coral bleaching
* Black band disease
* Skeletal eroding band
* Stony coral tissue loss disease
* White band disease
* White pox disease
Protection
* Coral Reef Alliance
* Coral reef protection
* Green Fins
* International Coral Reef Society
* Project AWARE
* Reef Check
* Reef Ball
Symbiotic algae
* Zooxanthellae
* Amphidinium
* Symbiodinium
Other
* Artificial reef
* Aquaculture of coral
* Coral dermatitis
* Precious coral
* Coral in non-tropical regions
* Coral rag
* Coral reef organizations
* Coral sand
* Coralline algae
* Environmental issues with coral reefs
* Fire coral
* Reef resilience
* Rugosa (extinct)
* Tabulata
*[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-aminobutyric 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
|
Black band disease
|
None
| 26,522 |
wikipedia
|
https://en.wikipedia.org/wiki/Black_band_disease
| 2021-01-18T18:48:57 |
{"wikidata": ["Q17149265"]}
|
Aluminosis
Other namesAluminosis of lung, Aluminum intoxication, Aluminium lung
Aluminosis (also known as aluminium lung) is a restrictive lung disease caused by exposure to aluminum-bearing dust.[1] Aluminosis is a form of pneumoconiosis that can lead to pulmonary fibrosis.[2] First cases of lung damage from aluminium exposure were reported in 1930s in Germany. It can be detected by using high-resolution computed tomography.[3] Findings may vary, showing nodular or slightly irregular opacities that may merge into more prominent forms, most frequently in the upper lung fields, sometimes in the lower lung fields, and less frequently a diffuse micro nodular pattern. In severe cases, pulmonary fibrosis with honeycombing was described.[4]
Workers exposed to aluminium dust are often involved in industries such as explosives manufacturing (where aluminium powder is involved), aluminium welding (and grinding), and bauxite smelting.[2]
## References[edit]
1. ^ aluminosis- definition of aluminosis by Medical dictionary
2. ^ a b Smolková, P; Nakládalová, M; Tichý, T; Hampalová, M; Kolek, V (2014). "Occupational Pulmonary Aluminosis: A Case Report". Industrial Health. 52 (2): 147–151. doi:10.2486/indhealth.2012-0154. PMC 4202761. PMID 24429515.
3. ^ Kraus, Thomas; Schaller, Karl; Angerer, Jürgen; Hilgers, Ralf-Dieter; Letzel, Stephan (2006). "Aluminosis – Detection of an almost forgotten disease with HRCT". Journal of Occupational Medicine and Toxicology. 1 (1): 4. doi:10.1186/1745-6673-1-4. PMC 1436008. PMID 16722569.
4. ^ Smolkova, Petra. "Occupational Pulmonary Aluminosis: A Case Report". Industrial Health.
## External links[edit]
Classification
D
* ICD-10: J63.0
* ICD-9-CM: 503
* DiseasesDB: 472
* https://icdlist.com/icd-10/J63.0
* v
* t
* e
Diseases of the respiratory system
Upper RT
(including URTIs,
common cold)
Head
sinuses
Sinusitis
nose
Rhinitis
Vasomotor rhinitis
Atrophic rhinitis
Hay fever
Nasal polyp
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nasal septum
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tonsil
Tonsillitis
Adenoid hypertrophy
Peritonsillar abscess
Neck
pharynx
Pharyngitis
Strep throat
Laryngopharyngeal reflux (LPR)
Retropharyngeal abscess
larynx
Croup
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Laryngeal cyst
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Laryngopharyngeal reflux (LPR)
Laryngospasm
vocal cords
Laryngopharyngeal reflux (LPR)
Vocal fold nodule
Vocal fold paresis
Vocal cord dysfunction
epiglottis
Epiglottitis
trachea
Tracheitis
Laryngotracheal stenosis
Lower RT/lung disease
(including LRTIs)
Bronchial/
obstructive
acute
Acute bronchitis
chronic
COPD
Chronic bronchitis
Acute exacerbation of COPD)
Asthma (Status asthmaticus
Aspirin-induced
Exercise-induced
Bronchiectasis
Cystic fibrosis
unspecified
Bronchitis
Bronchiolitis
Bronchiolitis obliterans
Diffuse panbronchiolitis
Interstitial/
restrictive
(fibrosis)
External agents/
occupational
lung disease
Pneumoconiosis
Aluminosis
Asbestosis
Baritosis
Bauxite fibrosis
Berylliosis
Caplan's syndrome
Chalicosis
Coalworker's pneumoconiosis
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Silicosis
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Hypersensitivity pneumonitis
Bagassosis
Bird fancier's lung
Farmer's lung
Lycoperdonosis
Other
* ARDS
* Combined pulmonary fibrosis and emphysema
* Pulmonary edema
* Löffler's syndrome/Eosinophilic pneumonia
* Respiratory hypersensitivity
* Allergic bronchopulmonary aspergillosis
* Hamman-Rich syndrome
* Idiopathic pulmonary fibrosis
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Obstructive / Restrictive
Pneumonia/
pneumonitis
By pathogen
* Viral
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By vector/route
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IIP
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Other
* Atelectasis
* circulatory
* Pulmonary hypertension
* Pulmonary embolism
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Pleural cavity/
mediastinum
Pleural disease
* Pleuritis/pleurisy
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* Mediastinitis
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Other/general
* Respiratory failure
* Influenza
* Common cold
* SARS
* Coronavirus disease 2019
* Idiopathic pulmonary haemosiderosis
* Pulmonary alveolar proteinosis
This article about a medical condition affecting the respiratory 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-aminobutyric 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
|
Aluminosis
|
c0311227
| 26,523 |
wikipedia
|
https://en.wikipedia.org/wiki/Aluminosis
| 2021-01-18T18:37:30 |
{"gard": ["8357"], "umls": ["C0311227"], "wikidata": ["Q447828"]}
|
Juvenile polyposis of infancy (JPI) is the most severe form of juvenile gastrointestinal polyposis (see this term) and is characterized by pancolonic hamartomatous polyposis from stomach to rectum, diagnosed in the first two years of life.
## Epidemiology
Prevalence is unknown but only 11 cases have been described in the literature so far.
## Clinical description
The digestive phenotype is severe and life-threatening, with gastrointestinal bleeding, diarrhea, inanition and exudative enteropathy. Early death has been reported and the risk of cancer in surviving children has not yet been clearly established. Signs of the Cowden or Bannayan-Riley-Ruvalcaba (BRRS) syndromes (see these terms) such as macrocephaly, lipomas, and hemangioblastomas can be observed. Dysmorphic signs, such as a large forehead, hypertelorism, down-slanting palpebral fissures, a flat nasal bridge, low-set ears, and a small mouth and chin, have also been described. Mild intellectual deficit has been reported in some cases. Recently, a less severe form of JPI has been described in several patients with early-onset gastrointestinal tract juvenile polyps but with a mild digestive phenotype.
## Etiology
The majority of cases are caused by a large deletion in the chromosome 10q23 region, encompassing the PTEN and BMPR1A genes. The hypothesis is that the severe digestive phenotype results from a cooperative effect of the deletion of each gene. However, this hypothesis is under debate as the patients with the mild digestive phenotype were also found to harbor a deletion of the PTEN and BMPR1A genes.
## Diagnostic methods
Diagnosis may be suspected on the basis of the clinical picture and digestive endoscopy investigation but is confirmed by detection of the 10q23 deletion. This deletion is rarely detected through karyotype analysis, and FISH or Array-CGH, followed by semiquantitative PCR methods (QMPSF, MLPA, MP/LC), are required to define the length and the location of the deletions.
## Differential diagnosis
The differential diagnosis should include the allelic disorders Cowden syndrome and Bannayan-Riley-Ruvalcaba syndrome, which are caused by mutations in the PTEN gene, as well as familial adenomatous polyposis and Peutz-Jeghers syndrome (see these terms).
## Genetic counseling
JPI appears to be sporadic.
## Management and treatment
Management revolves around colonoscopy with endoscopic polypectomy. Early endoscopic polypectomy may reduce morbidity by reducing the risk of the cancer, bleeding, or intestinal obstruction.
## Prognosis
However, as JPI is life-threatening and colectomy is generally necessary in infancy, the prognosis during infancy is severe and the survival rate is generally low. The prognosis for surviving children depends on the risk of gastrointestinal tract cancer.
*[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-aminobutyric 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
|
Juvenile polyposis of infancy
|
c1832942
| 26,524 |
orphanet
|
https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=79076
| 2021-01-23T18:17:58 |
{"mesh": ["C563412"], "omim": ["175050", "612242"], "icd-10": ["D12.6"], "synonyms": ["Infantile juvenile polyposis syndrome"]}
|
Nephrogenic syndrome of inappropriate antidiuresis (NSIAD) is a rare genetic disorder of water balance, closely resembling the far more frequent syndrome of inappropriate antidiuretic secretion (SIAD), and characterized by euvolemic hypotonic hyponatremia due to impaired free water excretion and undetectable or low plasma arginine vasopressin (AVP) levels.
## Epidemiology
NSIAD is a very rare disease with 21 cases of hyponatremia due to NSIAD having been reported to date, the majority of them coming from 5 families. NSIAD affects mainly males.
## Clinical description
Age at diagnosis can range from the first day of life to more than 70 years. When disease onset occurs in childhood, it generally presents with hyponatremic seizures. Asymptomatic female carriers have also been described. Symptoms of NSIAD are the classical symptoms of hyponatremic encephalopathy (cerebral edema) such as nausea, vomiting, dizziness and gait disturbances. The life-threatening symptoms of acute and severe hyponatremia (altered consciousness, respiratory arrest and death) have never been reported in NSIAD but can theoretically occur.
## Etiology
NSIAD is due to a gain of function mutation in the type 2 AVP receptor (AVPR2) gene (location Xq28), thus representing the mirror image of nephrogenic diabetes insipidus (see this term). This mutation leads to constant activation of the AVPR2 receptor on renal collecting duct cells, which causes an increase in free water reabsorption and an increase in urine concentration. Three mutations in this gene have been identified, 2 of them have been described in only one patient.
## Diagnostic methods
The first step in diagnosing NSIAD is to diagnose SIAD. The diagnostic criteria are as follows: euvolemic hypotonic hyponatremia, increased urinary osmolality (> 100 mosm/kg), increased urinary sodium (> 30 mmol/l), normal thyroid, adrenal, cardiac and renal function and no use of diuretics. The circumstances in which the AVPR2 mutation should be screened are 'idiopathic' SIAD with low or undetectable plasma AVP levels, familial history of NSIAD or unexplained SIAD in childhood. A mutation in the AVPR2 gene confirms diagnosis.
## Differential diagnosis
The main differential diagnosis is idiopathic SIAD.
## Genetic counseling
NSIAD is an X-linked disorder, affecting mainly males, with females often being asymptomatic carriers (only 3 cases of symptomatic hyponatremic females have been reported). Genetic counseling is possible.
## Management and treatment
Treatment of NSIAD is lifelong. Fluid restriction is the cornerstone of treatment. It is generally sufficient to avoid episodes of hyponatremia and is well tolerated (good compliance). There is a concern of restricting fluids in young infants due to the risk of malnutrition. Oral urea is the second step of treatment and acts by increasing free water clearance (osmotic diuresis). It is safe and well tolerated in children and adults, even over long-term use. Intermittent urea intake (non-daily) can be an option in some patients. Urea can also be used to correct an acute episode of hyponatremia. Non-peptide vasopressin receptor antagonists (vaptans), which have received market authorization for the management of SIAD, have shown inefficacy in a patient with mutant R137C - V2R but could be of interest in patients with the recently described mutant F229V-V2R on the basis of in vitro data. Patients must be monitored when increased water intake is anticipated (sports, heat wave) or in case of postoperative perfusion.
## Prognosis
The prognosis of NSAID is good, if episodes of severe hyponatremia are avoided.
*[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-aminobutyric 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
|
Nephrogenic syndrome of inappropriate antidiuresis
|
c1845202
| 26,525 |
orphanet
|
https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=93606
| 2021-01-23T18:18:22 |
{"mesh": ["C564491"], "omim": ["300539"], "umls": ["C1845202"], "icd-10": ["E22.2"], "synonyms": ["NSIAD"]}
|
A rare, genetic developmental defect during embryogenesis disorder characterized by sensorineural hearing impairment, childhood-onset cataract, underdeveloped secondary sexual characteristics, spinal muscular atrophy, growth retardation, and cardiac and skeletal anomalies. Sudden death, as well as fatal cardiomyopathy and heart failure, have been described in some 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-aminobutyric 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
|
Nathalie syndrome
|
c1850626
| 26,526 |
orphanet
|
https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=2663
| 2021-01-23T19:03:26 |
{"gard": ["3929"], "mesh": ["C538342"], "omim": ["255990"], "umls": ["C1850626"], "icd-10": ["Q87.8"], "synonyms": ["Deafness-cataract-skeletal anomalies syndrome", "Sensorineural hearing loss-cataract-skeletal anomalies-cardiomyopathy syndrome"]}
|
A number sign (#) is used with this entry because the infantile form of carnitine palmitoyltransferase II deficiency is caused by homozygous or compound heterozygous mutation in the CPT2 gene (600650) on chromosome 1p32.
Description
Carnitine palmitoyltransferase II deficiency is an inherited disorder of mitochondrial long-chain fatty acid oxidation. The infantile form usually presents between 6 and 24 months of age with recurrent attacks of hypoketotic hypoglycemia causing loss of consciousness and seizures, liver failure, and transient hepatomegaly. Some children also have heart involvement with cardiomyopathy and arrhythmia. Episodes are triggered by infections, fever, or fasting. Laboratory studies usually indicate hyperammonemia, metabolic acidosis, and hypoketotic hypoglycemia with elevated levels of creatine kinase (summary by Longo et al., 2006).
See also the lethal neonatal (608836) and adult-onset (255110) forms of the disorder, which are also caused by mutation in the CPT2 gene.
Clinical Features
Demaugre et al. (1991) reported a male infant, born of first-cousin parents, who presented at 3 months of age with lethargy, respiratory arrest, and seizures following a febrile illness. He had mild hepatomegaly and cardiomegaly, as well as multiple cardiac arrhythmias. Laboratory analysis showed hypoketotic hypoglycemia, elevated liver enzymes, increased plasma creatine kinase, and low plasma carnitine. The patient's plasma ketones rose after medium-chain triglyceride loading, but did not increase after long-chain triglyceride loading, indicating impaired oxidation of long-chain fatty acids in the liver. CPT II activity was 10% of normal in the patient's fibroblasts, and approximately 50% of normal in lymphocytes of the parents and 1 unaffected sib. Protein analysis showed decreased levels of a normal-sized CPT II protein in the patient's fibroblasts. The child died suddenly after an overnight fast at the age of 17 months.
Taroni et al. (1992) reported a 5-year-old boy, born of first cousin parents, who had recurrent episodes of vomiting, sweating, and lethargy from infancy. At age 23 months, he had an acute episode of seizures, coma, and respiratory distress, which ultimately led to severe brain damage. Physical examination showed hepatomegaly and mild dilated cardiomyopathy. After fasting, he developed hypoketotic hypoglycemia. Laboratory analysis showed that CPT II activity was reduced to 16.4%, 8.8%, and 6.6% of normal controls in the patient's fibroblasts, lymphoblasts, and skeletal muscle, respectively. Fibroblast CPT II activity was reduced by 40% and 35% in the father and mother, respectively.
Yamamoto et al. (1996) reported a previously healthy Japanese infant who became lethargic at the age of 9 months after a 2-day febrile illness. She had hypoketotic hypoglycemia, metabolic acidosis, hyperammonemia, elevated liver enzymes, and hepatomegaly with macrovesicular steatosis. Palmitate oxidation and CPT II activity in lymphoblasts were 46% and 3% of normal control rates, respectively. Her younger brother had a similar illness and laboratory results.
Isackson et al. (2008) reported a patient with infantile CPT II deficiency who presented at age 15 months following a febrile episode with hypoglycemic encephalopathy and hepatomegaly. He had elevated liver function tests and fatty infiltration of the liver. Echocardiogram showed ventricular hypertrophy with normal function. He had complete neurologic recovery and did well with proper treatment, although he had a few episodes of myolysis when stressed. CPT2 activity was 2.5% of control values. Genetic analysis revealed a homozygous mutation in the CPT2 gene (Y120C; 600650.0017).
### Clinical Variability
Illsinger et al. (2008) reported an infant with CPT2 deficiency identified by newborn screening of a dried blood spot; acylcarnitines were increased. However, acylcarnitine profile in blood taken on day 9 was normal with breast milk feeding, and there was no dicarboxylic aciduria. CPT2 activity was decreased to 25% in fibroblasts, and overall oxidation of the long-chain fatty acids was reduced to 10% of control values. The patient was found to be compound heterozygous for 2 mutations in the CPT2 gene. At age 2.5 years, he had no clinical symptoms associated with the marked impairment of long-chain fatty acid oxidation. Illsinger et al. (2008) noted that the phenotype of CPT2 deficiency can range from normal to early death in infancy, but concluded that all patients with abnormal neonatal screening should be followed for possible decompensation under certain circumstances.
Molecular Genetics
In a patient with infantile CPT II deficiency, Taroni et al. (1992) identified a homozygous mutation in the CPT2 gene (600650.0001).
In the patient with infantile CPT II deficiency reported by Demaugre et al. (1991), Bonnefont et al. (1996) identified a homozygous mutation in the CPT2 gene (600650.0005). In 2 Japanese sibs with infantile CPT II deficiency, Yamamoto et al. (1996) identified compound heterozygosity for 2 mutations in the CPT2 gene (600650.0006; 600650.0007).
Vladutiu et al. (2002) reported an 11-month-old male infant of mixed heritage presenting with episodic hypoglycemia who was compound heterozygous for 2 mutations in the CPT2 gene (600650.0003; 600650.0009).
INHERITANCE \- Autosomal recessive CARDIOVASCULAR Heart \- Cardiomegaly \- Dilated cardiomyopathy RESPIRATORY \- Respiratory arrest ABDOMEN Liver \- Hepatomegaly \- Macrovesicular steatosis Gastrointestinal \- Vomiting NEUROLOGIC Central Nervous System \- Lethargy \- Seizures METABOLIC FEATURES \- Hypoketotic hypoglycemia LABORATORY ABNORMALITIES \- Decreased carnitine palmitoyltransferase II (CPT2) activity \- Decreased levels of CPT2 protein \- Decreased palmitate oxidation \- Increased liver function tests \- Hyperammonemia \- Increased creatine kinase \- Reduced total and free carnitine in plasma and tissue \- Increased long-chain acylcarnitine MISCELLANEOUS \- Onset in infancy (3 months on) \- Precipitated by febrile illness and fasting \- See also lethal neonatal ( 608836 ) and adult forms ( 255110 ) MOLECULAR BASIS \- Caused by mutations in the carnitine palmitoyltransferase II gene (CPT2, 600650.0001 ) ▲ 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-aminobutyric 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
|
CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, INFANTILE
|
c1833511
| 26,527 |
omim
|
https://www.omim.org/entry/600649
| 2019-09-22T16:16:01 |
{"doid": ["0060235"], "mesh": ["C563462"], "omim": ["600649"], "orphanet": ["228305", "157"], "synonyms": ["Alternative titles", "CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY WITH HYPOKETOTIC HYPOGLYCEMIA", "CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, HEPATOCARDIOMUSCULAR", "CPT II DEFICIENCY, HEPATIC", "CPT2 DEFICIENCY, INFANTILE"], "genereviews": ["NBK1253"]}
|
A number sign (#) is used with this entry because X-linked recessive Charcot-Marie-Tooth disease-5 (CMTX5) is caused by loss-of-function mutation in the PRPS1 gene (311850) on chromosome Xq22.
Loss-of-function PRPS1 mutations, resulting in decreased enzyme activity, can also cause Arts syndrome (ARTS; 301835) and X-linked deafness-1 (DFNX1; 304500). There is considerable phenotypic overlap between CMTX5, Arts syndrome, and DFNX1, as well as intrafamilial variability depending on gender, X-inactivation ratio, residual enzyme activity, and additional factors. Males tend to be more severely affected than females in all 3 disorders, although some females can show severe features. These disorders are best considered as representing a phenotypic spectrum (summary by Almoguera et al., 2014; Synofzik et al., 2014).
Another allelic disorder, PRPS-related gout (300661), results from increased PRPS1 enzyme activity. Some affected patients also have neurologic symptoms, including sensorineural deafness.
Description
The phenotype of X-linked Charcot-Marie-Tooth disease-5 typically comprises the triad of optic atrophy, deafness, and polyneuropathy. However, patients without optic atrophy have been reported (summary by Park et al., 2013).
For a discussion of genetic heterogeneity of X-linked Charcot-Marie-Tooth disease, see CMTX1 (302800).
See 165199 and 258650 for possible autosomal dominant and autosomal recessive forms of the disorder.
Clinical Features
Rosenberg and Chutorian (1967) reported 2 brothers with early-onset hearing loss, lower leg weakness and atrophy beginning in childhood, and progressive loss of vision beginning with optic atrophy at about age 20 years. The older brother had pes cavus, and both brothers required a cane for walking by age 15 years. As adults, both had severe distal weakness and atrophy in all extremities, with broad-based gait and atrophy of the intrinsic hand muscles. Deep tendon reflexes were absent in the legs, there was marked reduction of all sensory modalities below the elbows and knees. Nerve conduction was moderately reduced. Intellect was not affected. A 3.5-year-old nephew showed the same triad of features. Later evidence suggested that the mother, grandmother, and great-grandmother of the affected nephew may also have had slowly progressive hearing loss, suggesting X-linked semidominant inheritance (Pauli, 1984).
Pauli (1984) reported a family (family 'A') in which 3 males had infantile or congenital onset of bilateral sensorineural hearing loss and childhood-onset of peripheral neuropathy. There was slow progression, but the 2 older patients developed severe motor disability by ages 27 and 35 years. Two also had visual loss, 1 with optic atrophy. Five female family members had hearing loss.
Kim et al. (2005) reported a Korean family in which 6 males were affected with early-onset hearing loss, decreased visual acuity, and motor impairment in an X-linked recessive pattern of inheritance. Bilateral profound sensorineural hearing loss was present at an early age. The patients had onset of progressive weakness of the lower extremities and gait disturbances from ages 10 to 12 years. All developed bilateral progressive visual failure starting at 8 to 13 years. The proband had bilateral optic disc pallor and decreased visual evoked potentials, indicating optic nerve dysfunction. Obligate female carriers were unaffected. Kim et al. (2005) noted that the phenotype resembled that reported by Rosenberg and Chutorian (1967).
### Clinical Variability
Park et al. (2013) reported a 17-year-old Korean boy with hearing loss since infancy and gait abnormalities with frequent falls since age 6 years. Neurologic examination showed distal muscle weakness and atrophy, which was more prominent in the lower limbs, and distal sensory impairment. Deep tendon reflexes were absent in all extremities. Electrophysiologic studies showed a sensorimotor peripheral neuropathy, and EMG suggested a neurogenic process. Laboratory studies showed mildly increased serum creatine kinase, but normal uric acid. The patient had cochlear surgery and began using a hearing aid. He had no visual abnormalities. Family history revealed 2 maternally related male relatives with a similar disorder beginning in childhood; 1 became wheelchair-bound at age 40. Both also had hearing loss but normal vision. The findings in this family expanded the phenotypic spectrum of CMTX5.
Almoguera et al. (2014) reported 4 females from a 3-generation Spanish family with variable manifestations of a complex neurologic disorder resulting from PRPS1 deficiency. The proband, who was the most severely affected, had progressive visual loss due to optic atrophy, retinitis pigmentosa, macular atrophy beginning at age 4 years, congenital nystagmus, mild developmental delay, and hypotonia. She developed hearing impairment at age 21 years, and peripheral neuropathy as a young adult. Other features included cataracts, pes cavus, ataxia, and cerebellar atrophy. Some of these features were reminiscent of Arts syndrome. The patient's sister and mother had similar but less severe features with later onset. The sister developed optic atrophy at age 16 and retinitis pigmentosa at age 23; the mother developed both at age 47. The sister did not have hearing impairment or peripheral neuropathy, but the mother developed hearing loss at age 50 and peripheral neuropathy and ataxia at age 55. All 3 patients had essential tremor. Erythrocyte PRPS1 activity was severely decreased in the proband, moderately decreased in the sister, and mildly decreased in the mother. A deceased female relative also had retinitis pigmentosa and ataxia, but additional clinical details were unavailable. The findings indicated that females can show severe or intermediate manifestations of PRPS1 deficiency, even early in life, and that there is intrafamilial variability.
Robusto et al. (2015) reported 2 unrelated families with a mild form of CMTX5. Both families were ascertained from a teenaged male proband with sensorineural hearing loss. Subsequent neurologic evaluation of mutation-carrying family members showed signs of a subclinical peripheral neuropathy that differed between males and females. Female mutation carriers showed subclinical signs, such as pes cavus, reduced or absent deep tendon reflexes, and chronic denervation in distal muscles of lower limbs. Male mutation carriers showed more evident findings of neuropathy, although these features were mainly sensory, such as absent deep tendon reflexes, paresthesias, and cramps. EMG showed chronic denervation in most male and female patients, whereas only males showed mild/moderate axonal neuropathy. The neurologic phenotype in 1 family was consistent with an axonal sensorimotor neuropathy, whereas that in the other family was predominantly a motor neuropathy. All patients, both male and female, also had hearing loss, except for 1 female who had only peripheral neuropathy. The findings expanded the phenotype associated with PRPS1 loss-of-function mutations, which can result in a continuous spectrum of clinical feature that vary even within a family.
Mapping
By X-chromosome-wide linkage analysis of a Korean family, Kim et al. (2005) identified a 15.2-cM candidate disease locus, termed CMTX5, on chromosome Xq21.32-q24 between markers DXS990 and DXS8067 (maximum lod score of 3.62 at DXS8077). The locus did not overlap with CMTX1, CMTX2 (302801), CMTX3 (302802), or Cowchock syndrome (CMTX4; 310490).
Molecular Genetics
In affected members of the families reported by Rosenberg and Chutorian (1967) and Kim et al. (2005), Kim et al. (2007) identified 2 different mutations in the PRPS1 gene (311850.0009 and 311850.0010, respectively). The mutations were shown to result in decreased enzyme activity; none of the affected individuals had increased uric acid or gout. Kim et al. (2007) noted that both PRPS1 superactivity and CMTX5 phenotypes share neurologic features.
In a young Korean man with CMTX5 with early-onset sensorineural deafness but without optic atrophy, Park et al. (2013) identified a hemizygous missense mutation in the PRPS1 gene (A121G; 311850.0018) inherited from his unaffected mother. The mutation was found by whole-exome sequencing.
In 4 females from a 3-generation Spanish family with variable manifestations of CMTX5, Almoguera et al. (2014) identified a heterozygous missense mutation in the PRPS1 gene (S16P; 311850.0020). Erythrocyte PRPS1 activity from 3 affected females showed variably decreased levels, which correlated with the age at onset. The proband (IV-3), who was the most severely affected, had significantly skewed X inactivation (82%) of the paternal allele and showed lack of expression of the wildtype allele in lymphocyte mRNA. The proband's sister and mother, who carried the mutation but were less severely affected clinically, did not show significantly skewed X-inactivation.
In affected members of 2 unrelated families with variable manifestations of CMTX5, Robusto et al. (2015) identified different missense mutations in the PRPS1 gene (M115V, 311850.0022 and V309F, 311850.0023). The 2 probands were ascertained from a cohort of 16 unrelated male probands with X-linked familial hearing loss who underwent sequencing of the PRPS1 gene. The mutations resulted in a greater than 60% reduction in PRPS1 activity compared to controls, with greater reductions in male compared to female carriers.
INHERITANCE \- X-linked recessive HEAD & NECK Ears \- Hearing loss, sensorineural, prelingual Eyes \- Vision impairment, progressive (onset in late childhood or teens in some patients) \- Optic nerve atrophy (in some patients) \- Retinitis pigmentosa (in some patients) SKELETAL Feet \- Pes cavus NEUROLOGIC Peripheral Nervous System \- Sensorimotor axonal peripheral neuropathy \- Delayed motor development \- Distal limb muscle weakness due to peripheral neuropathy \- Distal limb muscle atrophy due to peripheral neuropathy \- Impaired gait, some patients are never able to run \- Areflexia of the lower limbs \- Distal sensory impairment \- Normal or mildly decreased nerve conduction velocities (NCV) \- Loss of both large and small myelinated fibers seen on sural nerve biopsy \- Increased endoneurial collagen \- Segmental demyelination/remyelination \- Onion bulb formations MISCELLANEOUS \- Female carriers may have hearing loss and/or subclinical peripheral neuropathy \- Variable severity \- Onset of motor disturbances in childhood \- Possible autosomal dominant ( 165199 ) and autosomal recessive ( 258650 ) forms MOLECULAR BASIS \- Caused by mutation in the phosphoribosylpyrophosphate synthetase 1 gene (PRPS1, 311850.0009 ) ▲ 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-aminobutyric 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
|
CHARCOT-MARIE-TOOTH DISEASE, X-LINKED RECESSIVE, 5
|
c1839566
| 26,528 |
omim
|
https://www.omim.org/entry/311070
| 2019-09-22T16:17:31 |
{"doid": ["0110210"], "mesh": ["C537129"], "omim": ["311070"], "orphanet": ["99014"], "synonyms": ["Alternative titles", "OPTIC ATROPHY, POLYNEUROPATHY, AND DEAFNESS", "ROSENBERG-CHUTORIAN SYNDROME", "CHARCOT-MARIE-TOOTH NEUROPATHY, X-LINKED RECESSIVE, 5"], "genereviews": ["NBK1358", "NBK1876"]}
|
A rare, genetic, metabolic disease with connective tissue and eye involvement, characterized by progressive ectopic mineralization and fragmented elastic fibers in the skin, retina and vascular walls.
## Epidemiology
Prevalence is estimated at between 1/40,000 and 1/100,000 in the general population, with, for unknown reason, female predominance (female to male ratio 4:1).
## Clinical description
Disease onset is typically in adolescence or young adulthood but may appear at any age. The first clinical sign is almost always small yellow papules on the nape and sides of the neck and in flexural areas. The papules subsequently coalesce, and the skin becomes loose and wrinkled. Dystrophic calcification of Bruch's membrane of the retina, revealed by angioid streaks at fundus examination, may trigger choroidal neovascularization and, ultimately, loss of central vision and blindness in late-stage disease. Lesions in small and medium-sized artery walls may result in intermittent claudication and peripheral artery disease. The disease may be limited to one organ (skin, eye, or blood vessels) in some patients or affect two or all three organs. Cardiac complications (angina pectoris, myocardial infarction) are relatively rare but, when present, deserve thorough investigation. Transient ischemic attacks and, more rarely, ischemic strokes have been reported. Gastrointestinal hemorrhage occurs in about 5% of cases. Calcification of other organs, such as the kidneys, breasts, pancreas, testicles, liver and spleen may be observed.
## Etiology
The vast majority of cases are caused by biallelic pathogenic variants in the ABCC6 gene (16p13.11). Rarely, patients with pseudoxanthoma elasticum (PXE)-like clinical features harbor pathogenic variants in the ENPP1 gene (6q23.2), which is usually associated with generalized arterial calcification of infancy (GACI). Both genes are presumably part of one metabolic way, and the pathogenic variants are thought to lead to decreased circulating pyrophosphate (PPi), a major anti-mineralization factor.
## Diagnostic methods
Diagnosis is suspected on clinical presentation of characteristic yellow cobblestone skin lesions at the predilection sites. Biopsy of the affected skin using elastin and calcium-specific staining reveals abundant morphological alterations with fragmented, clustered and calcified elastin fibers in the middle and lower dermis. Fundus examination reveals characteristic retinopathy with angioid streaks, drusen or maculopathy. Genetic testing for ABCC6 can confirm diagnosis or rule it out in clinically ambiguous cases.
## Differential diagnosis
Differential diagnosis of angioid streaks includes hemoglobinopathies (sickle cell disease, Beta-thalassemia, spherocytosis), dermal elastic tissue disorders (solar elastosis, perforating calcific elastosis, PXE-like late-onset focal dermal elastosis, PXE-like papillary dermal elastolysis) and other multisystem disorders (cutis laxa) as well as combined vitamin K-dependent clotting factors deficiency.
## Genetic counseling
The pattern of transmission is autosomal recessive, with a 25% risk of recurrence in siblings. Pseudo-dominant pattern of inheritance due to high frequency of ABCC6 heterozygotes (around 1/200), has been occasionally observed. Genetic counseling for affected families is recommended.
## Management and treatment
There is no specific therapy; the main symptomatic treatments include direct injection of vascular endothelial growth factor inhibitor in the eyes (for choroidal neovascularization), lifestyle, lipid-lowering and dietary measures (for reducing vascular risk factors), vascular surgery (for severe arteriosclerosis), and plastic surgery (for excess skin folds).
## Prognosis
It is a life-long progressive disease with high debilitating potential, but the life-span is normal in most patients.
*[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-aminobutyric 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
|
Pseudoxanthoma elasticum
|
c0033847
| 26,529 |
orphanet
|
https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=758
| 2021-01-23T18:00:19 |
{"gard": ["9643"], "mesh": ["D011561"], "omim": ["177850", "264800"], "umls": ["C0033847"], "icd-10": ["Q82.8"], "synonyms": ["Gronblad-Strandberg-Touraine syndrome", "PXE"]}
|
A rare non-syndromic diaphragmatic or abdominal wall malformation, a remnant of omphalomesenteric duct, characterized by cuboidal or columnar epithelium with gastrointestinal differentiation. Patients may be asymptomatic or present with infraumbilical mass, umbilical lesion with secretions, abdominal pain, hernia, abscess, gastrointestinal tract bleeding, intestinal obstruction, and acute abdomen.
*[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-aminobutyric 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
|
Omphalomesenteric cyst
|
c0266180
| 26,530 |
orphanet
|
https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=490
| 2021-01-23T18:12:45 |
{"gard": ["4081"], "icd-10": ["Q43.0"]}
|
Prostate cancer (176807) is the second leading cause of male cancer deaths in the United States. Sanchez et al. (1996) noted that, while prostate secretory epithelial cells and androgen-dependent prostate carcinomas undergo apoptosis in response to androgen deprivation, most prostate carcinomas become androgen independent and refractory to further therapeutic manipulations during disease progression. Sanchez et al. (1996) undertook to define the genetic events that trigger apoptosis in the prostate. They reported the functional definition of a novel genetic locus within 10pter-q11 that mediates both in vivo tumor suppression and in vitro apoptosis in prostatic adenocarcinoma cells. A defined fragment of human chromosome 10 was transferred via microcell fusion into a prostate adenocarcinoma cell line. Microcell hybrids containing only the region 10pter-q11 were suppressed for tumorigenicity following injection of microcell hybrids into nude mice. Furthermore, the complemented hybrids underwent programmed cell death in vitro via a mechanism that does not require nuclear localization of p53 (191170). Sanchez et al. (1996) concluded that a novel genetic locus, designated prostate adenocarcinoma 1 (PAC1) by them, is involved in tumor suppression of human prostate carcinoma and that the cell death pathway might be functionally restored in prostatic adenocarcinoma with therapeutic benefit.
*[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-aminobutyric 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
|
SUPPRESSION OF TUMORIGENICITY 12
|
None
| 26,531 |
omim
|
https://www.omim.org/entry/601188
| 2019-09-22T16:15:15 |
{"omim": ["601188"], "synonyms": ["Alternative titles", "PROSTATE ADENOCARCINOMA 1"]}
|
A number sign (#) is used with this entry because this form of autosomal recessive mental retardation (MRT13) is caused by homozygous mutation in the TRAPPC9 gene (611966) on chromosome 8q24.3.
Clinical Features
Mochida et al. (2009) reported a consanguineous Israeli Arab pedigree in which 3 girls had moderate to severe mental retardation and postnatal microcephaly. One girl, at age 7 years 10 months, had severe cognitive delay and could speak only a few words. She had normal motor development and could walk, but showed bruxism and hand-flapping movements. Brain MRI scans at age 2 and 4 years showed a thin corpus callosum and reduced volume of the cerebral white matter. Brain MRI of her 4-year-old affected sister also showed a thin but fully formed corpus callosum, decreased volume of the cerebral white matter, and hypoplasia of the inferior cerebellar vermis. Brain MRI was not reported for the third child. None of the patients had dysmorphic features, autistic features, or seizures, and there was no evidence of developmental regression.
Philippe et al. (2009) reported 3 brothers, born of consanguineous Tunisian parents, with autosomal recessive mental retardation associated with mild microcephaly, myelination defect, and truncal obesity in the first year of life. One child, first examined at age 10 years, had severe mental retardation with significant speech delay and a friendly personality. He had mild microcephaly, truncal obesity, hypertelorism, short neck, and prominent upper central incisors. Examination at age 19 showed progressive microcephaly and short, smooth philtrum, and brain MRI showed unusual white matter abnormalities. The second child had unilateral cleft lip, delayed speech, hypotelorism, short neck, prominent upper central incisors, short, smooth philtrum, and long, thin fingers. He understood simple commands and had a happy disposition and hyperactivity. The third affected child had global developmental delay, but was less severely affected. At age 4, he could communicate verbally with a few words and understood commands, and was able to performed simple tasks. He also had hyperactive behavior.
Mir et al. (2009) reported a consanguineous Pakistani family with MRT13. There was either microcephaly or borderline microcephaly. Three affected individuals were studied in detail. A 3-year-old girl did not walk independently and spoke fewer than 20 meaningful words. She could not feed herself and had not achieved continence. A 6-year-old girl started walking at 4 years of age, was overweight, could not use full sentences, and had clonic/tonic seizures. A 9-year-old boy started walking at 5 years of age and could communicate basic needs. There were no autistic features or dysmorphic features.
Abou Jamra et al. (2011) reported a large consanguineous Syrian family (MR055) with MRT13. The patients had neonatal hypotonia, severe motor delay with walking between ages 5 and 7 years, single words or no speech, growth retardation, stereotypic movements, and hand flapping. They also shared some dysmorphic features, including low frontal hairline, synophrys, and microcephaly. One patient had seizures. Genetic analysis revealed a homozygous truncating mutation in the TRAPPC9 gene (611966.0001).
Marangi et al. (2013) reported 2 sisters, born of unrelated parents from southern Italy, with MRT13. Both had hypotonia at birth and showed delayed psychomotor development; 1 child never learned to stand up or utter single words. Both had a small head and a distinctive craniofacial appearance with brachycephaly, round face, hypertelorism, straight eyebrows, synophrys, wide nasal bridge, fleshy ears, and downturned mouth. One girl had recurrent febrile seizures. Both had abnormal brain MRI findings, including decreased cerebral white matter volume, sulcal enlargement, thinning of the corpus callosum, and reduced cerebellar volume. There were also several areas of T2 hyperintensity in the subcortical white matter. Both girls were obese and severely mentally disabled. One showed a friendly disposition. In a review of the literature, Marangi et al. (2013) concluded that the phenotype associated with loss-of-function mutations in the TRAPPC9 gene is recognizable and can be characterized by dysmorphic facial appearance, obesity, hypotonia, moderate to severe intellectual disability, and consistent brain abnormalities.
Mapping
Najmabadi et al. (2007) reported a consanguineous Iranian family (M001) in which 2 individuals had nonsyndromic moderate mental retardation. Linkage analysis identified a candidate locus on chromosome 8q with a maximum lod score of 2.0. Haplotype analysis delineated a 6.8-Mb candidate region between SNP rs968652 and qter.
Cytogenetics
Koifman et al. (2010) reported a girl, born of related Filipino parents, with severe mental retardation, dysmorphic facial features, and dysgenesis of the corpus callosum. Array comparative genomic hybridization analysis identified a homozygous 141.46-kb deletion of chromosome 8q24.3 (chr8:140,879,937-141,021,392) encompassing only the TRAPPC9 gene. The patient also had hyperextensible joints in the hands, progressive loss of the cerebellar vermis and cerebellar volume over time, cerebral volume loss, cortical blindness, and some hearing difficulties. At age 12 years, she could not sit or walk and could not feed herself. She had coarse facial features with round face, brachycephaly, heavy eyebrows, deep-set eyes, broad nasal bridge, short philtrum, and high-arched palate. Each unaffected parent was heterozygous for the deletion.
Molecular Genetics
By genomewide linkage analysis followed by candidate gene sequencing of an Israeli Arab family with nonsyndromic mental retardation. Mochida et al. (2009) identified a homozygous truncating mutation in the TRAPPC9 gene (R475X; 611966.0001) on chromosome 8q24. Mir et al. (2009) identified an R475X mutation in affected members of a Pakistani family with MRT13.
Philippe et al. (2009) identified a nonsense mutation in the TRAPPC9 gene (611966.0002) in 3 Tunisian brothers with autosomal recessive mental retardation.
Mir et al. (2009) identified a deletion in the TRAPPC9 gene (611966.0003) in affected members of an Iranian family (family M001) reported by Najmabadi et al. (2007) as showing linkage to chromosome 8q24. Affected members had severe nonsyndromic mental retardation, were ambulatory but nonverbal, and had microcephaly. There were no seizures or dysmorphic features.
In 2 sisters, born of unrelated parents from southern Italy, with MRT13, Marangi et al. (2013) identified a homozygous truncating mutation in the TRAPPC9 gene (611966.0004).
INHERITANCE \- Autosomal recessive GROWTH Weight \- Truncal obesity (variable) HEAD & NECK Head \- Microcephaly, postnatal Face \- Short, smooth philtrum Eyes \- Hypertelorism (rare) \- Hypotelorism (rare) Mouth \- Cleft lip (rare) Teeth \- Prominent central incisors Neck \- Short neck SKELETAL Hands \- Long, thin fingers (rare) NEUROLOGIC Central Nervous System \- Mental retardation, moderate to severe \- Language development limited to a few words \- Seizures (rare) \- Delayed walking (less common) \- Thin corpus callosum \- Decreased volume of the cerebral white matter \- White matter abnormalities \- Hypoplasia of the inferior cerebellar vermis Behavioral Psychiatric Manifestations \- Happy disposition \- Hyperactivity MISCELLANEOUS \- Onset in infancy MOLECULAR BASIS \- Caused by mutation in the trafficking protein particle complex, subunit 9 gene (TRAPPC9, 611966.0001 ) ▲ 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-aminobutyric 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
|
MENTAL RETARDATION, AUTOSOMAL RECESSIVE 13
|
c2750791
| 26,532 |
omim
|
https://www.omim.org/entry/613192
| 2019-09-22T15:59:23 |
{"doid": ["0050889"], "mesh": ["C567714"], "omim": ["613192"], "orphanet": ["88616"], "synonyms": ["AR-NSID", "NS-ARID"]}
|
This article includes a list of general references, but it remains largely unverified because it lacks sufficient corresponding inline citations. Please help to improve this article by introducing more precise citations. (June 2015) (Learn how and when to remove this template message)
Hallux rigidus
Other namesStiff big toe
Hallux not labeled but visible at upper left.
SpecialtyRheumatology
Hallux rigidus
Hallux rigidus or stiff big toe is degenerative arthritis and stiffness due to bone spurs that affects the MTP joint at the base of the hallux (big toe).
Hallux flexus was initially described by Davies-Colley[1] in 1887 as a plantar flexed posture of phalanx relative to the metatarsal head. About the same time, Cotterill first used the term hallux rigidus.
## Contents
* 1 Signs and symptoms
* 2 Causes
* 3 Classification
* 4 Treatment
* 4.1 Non-surgical
* 4.2 Surgical
* 5 References
* 6 External links
## Signs and symptoms[edit]
* Pain and stiffness in the joint at the base of the big toe during use (walking, standing, bending, etc.)
* Difficulty with certain activities (running, squatting)
* Swelling and inflammation around the joint
Although the condition is degenerative, it can occur in patients who are relatively young, particularly active sports people who have at some time suffered trauma to the joint (turf toe). A notable example is NBA star Shaquille O'Neal[2] who returned to basketball after surgery.
## Causes[edit]
This condition, which occurs in adolescents and adults, can be associated with previous trauma. The true cause is not known. Most commonly, hallux rigidus is thought to be caused by wear and tear of the first metatarsophalangeal joint.
## Classification[edit]
In 1988, Hattrup and Johnson described the following radiographic classification system:
* Grade I – mild changes with maintained joint space and minimal spurring.
* Grade II – moderate changes with narrowing of joint space, bony proliferation on the metatarsophalangeal head and phalanx and subchondral sclerosis or cyst.
* Grade III – severe changes with significant joint space narrowing, extensive bony proliferation and loose bodies or a dorsal ossicle.[3]
## Treatment[edit]
### Non-surgical[edit]
Early treatment for mild cases of hallux rigidus may include prescription foot orthotics, shoe modifications (such as a pad under the joint, and/or a deeper toebox[4]to take the pressure off the toe and/or facilitate walking), specialized footwear ('rocker-sole' shoes), medications (anti-inflammatory drugs) or injection therapy (corticosteroids to reduce inflammation and pain). Physical therapy programs may be recommended, although there is very limited evidence that they provide benefit for reducing pain and improving function of the joint.[5]
### Surgical[edit]
In some cases, surgery is the only way to eliminate or reduce pain. There are several types of surgery for treatment of hallux rigidus. The type of surgery is based on the stage of hallux rigidus. According to the Coughlin and Shurnas Clinical Radiographic Scale:[6]
Stage 1 hallux rigidus involves some loss of range of motion of the big toe joint or first MTP joint and is often treated conservatively with prescription foot orthotics.
Stage 2 hallux rigidus involves greater loss of range of motion and cartilage and may be treated via cheilectomy in which the metatarsal head is reshaped and bone spurs reduced.
Stage 3 hallux rigidus often involves significant cartilage loss and may be treated by an osteotomy in which cartilage on the first metatarsal head is repositioned, possibly coupled with a hemi-implant in which the base of the proximal phalanx (base of the big toe) is resurfaced.
Stage 4 hallux rigidus, also known as end stage hallux rigidus, involves severe loss of range of motion of the big toe joint and cartilage loss. Stage 4 hallux rigidus may be treated via fusion of the joint (arthrodesis) or implant arthroplasty in which both sides of the joint are resurfaced or a hinged implant is used. Fusion of the joint is often viewed as more definitive but may lead to significant alteration of gait causing postural symptomatology. The implants termed "two part unconstrained" implants in which a "ball" type device is placed on the first metatarsal head and "socket" portion on the base of the big toe do not have a good long term track record. The hinged implants have been in existence since the 1970s, have been continually improved and have the best record of improving long term function.
## References[edit]
1. ^ Davies-Colley, MR (1887). "Contraction of the metatarsophalangeal joint of the great toe". British Medical Journal. 1 (728).
2. ^ Brown, Tim (12 September 2002). "Operation Goes Well on Shaq Toe". The Los Angeles Times. Retrieved 13 June 2015.
3. ^ Hattrup, SJ; Johnson, KA (1988). "Subjective results of hallux rigidus following treatment with cheilectomy". Clin. Orthop. Relat. Res. (226): 182–91. doi:10.1097/00003086-198801000-00025. PMID 3335093.
4. ^ Lam, A; Chan, JJ; Surace, MF; Vulcano, E (18 May 2017). "Hallux rigidus: How do I approach it?". World Journal of Orthopedics. 8 (5): 364–371. doi:10.5312/wjo.v8.i5.364. PMC 5434342. PMID 28567339.
5. ^ Zammit, Gerard V; Menz, Hylton B; Munteanu, Shannon E; Landorf, Karl B; Gilheany, Mark F (8 September 2010). "Interventions for treating osteoarthritis of the big toe joint". Cochrane Database of Systematic Reviews (9): CD007809. doi:10.1002/14651858.CD007809.pub2. PMID 20824867.
6. ^ Coughlin, MJ; Shurnas, PS (November 2003). "Hallux rigidus. Grading and long-term results of operative treatment". The Journal of Bone and Joint Surgery. American Volume. 85 (11): 2072–88. doi:10.2106/00004623-200311000-00003. PMID 14630834.
## External links[edit]
Classification
D
* ICD-10: M20.2
* ICD-9-CM: 735.2
* MeSH: D020859
* DiseasesDB: 33134
External resources
* eMedicine: orthoped/125
* rigidus and cheilectomy Hallux rigidus and cheilectomy at the Duke University Health System's Orthopedics program
* Overview at aaos.org
* Hallux Rigidus and Hallux Limitus – Classification and Treatment
* Diagram
* 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
Authority control
* GND: 4461316-7
*[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-aminobutyric 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
|
Hallux rigidus
|
c0264134
| 26,533 |
wikipedia
|
https://en.wikipedia.org/wiki/Hallux_rigidus
| 2021-01-18T19:10:59 |
{"mesh": ["D020859"], "umls": ["C0264134"], "icd-9": ["735.2"], "icd-10": ["M20.2"], "wikidata": ["Q1425208"]}
|
Glossoptosis is a medical condition and abnormality which involves the downward displacement or retraction of the tongue.[1] It may cause non-fusion of the hard palate, causing cleft palate.
It is one of the features of Pierre Robin sequence and Down syndrome.[1]
## References[edit]
1. ^ a b Donnelly, Lane F. (2016-08-10). Fundamentals of Pediatric Imaging E-Book. Elsevier Health Sciences. p. 22. ISBN 9780323444996.
* v
* t
* e
Oral and maxillofacial pathology
Lips
* Cheilitis
* Actinic
* Angular
* Plasma cell
* Cleft lip
* Congenital lip pit
* Eclabium
* Herpes labialis
* Macrocheilia
* Microcheilia
* Nasolabial cyst
* Sun poisoning
* Trumpeter's wart
Tongue
* Ankyloglossia
* Black hairy tongue
* Caviar tongue
* Crenated tongue
* Cunnilingus tongue
* Fissured tongue
* Foliate papillitis
* Glossitis
* Geographic tongue
* Median rhomboid glossitis
* Transient lingual papillitis
* Glossoptosis
* Hypoglossia
* Lingual thyroid
* Macroglossia
* Microglossia
* Rhabdomyoma
Palate
* Bednar's aphthae
* Cleft palate
* High-arched palate
* Palatal cysts of the newborn
* Inflammatory papillary hyperplasia
* Stomatitis nicotina
* Torus palatinus
Oral mucosa – Lining of mouth
* Amalgam tattoo
* Angina bullosa haemorrhagica
* Behçet's disease
* Bohn's nodules
* Burning mouth syndrome
* Candidiasis
* Condyloma acuminatum
* Darier's disease
* Epulis fissuratum
* Erythema multiforme
* Erythroplakia
* Fibroma
* Giant-cell
* Focal epithelial hyperplasia
* Fordyce spots
* Hairy leukoplakia
* Hand, foot and mouth disease
* Hereditary benign intraepithelial dyskeratosis
* Herpangina
* Herpes zoster
* Intraoral dental sinus
* Leukoedema
* Leukoplakia
* Lichen planus
* Linea alba
* Lupus erythematosus
* Melanocytic nevus
* Melanocytic oral lesion
* Molluscum contagiosum
* Morsicatio buccarum
* Oral cancer
* Benign: Squamous cell papilloma
* Keratoacanthoma
* Malignant: Adenosquamous carcinoma
* Basaloid squamous carcinoma
* Mucosal melanoma
* Spindle cell carcinoma
* Squamous cell carcinoma
* Verrucous carcinoma
* Oral florid papillomatosis
* Oral melanosis
* Smoker's melanosis
* Pemphigoid
* Benign mucous membrane
* Pemphigus
* Plasmoacanthoma
* Stomatitis
* Aphthous
* Denture-related
* Herpetic
* Smokeless tobacco keratosis
* Submucous fibrosis
* Ulceration
* Riga–Fede disease
* Verruca vulgaris
* Verruciform xanthoma
* White sponge nevus
Teeth (pulp, dentin, enamel)
* Amelogenesis imperfecta
* Ankylosis
* Anodontia
* Caries
* Early childhood caries
* Concrescence
* Failure of eruption of teeth
* Dens evaginatus
* Talon cusp
* Dentin dysplasia
* Dentin hypersensitivity
* Dentinogenesis imperfecta
* Dilaceration
* Discoloration
* Ectopic enamel
* Enamel hypocalcification
* Enamel hypoplasia
* Turner's hypoplasia
* Enamel pearl
* Fluorosis
* Fusion
* Gemination
* Hyperdontia
* Hypodontia
* Maxillary lateral incisor agenesis
* Impaction
* Wisdom tooth impaction
* Macrodontia
* Meth mouth
* Microdontia
* Odontogenic tumors
* Keratocystic odontogenic tumour
* Odontoma
* Dens in dente
* Open contact
* Premature eruption
* Neonatal teeth
* Pulp calcification
* Pulp stone
* Pulp canal obliteration
* Pulp necrosis
* Pulp polyp
* Pulpitis
* Regional odontodysplasia
* Resorption
* Shovel-shaped incisors
* Supernumerary root
* Taurodontism
* Trauma
* Avulsion
* Cracked tooth syndrome
* Vertical root fracture
* Occlusal
* Tooth loss
* Edentulism
* Tooth wear
* Abrasion
* Abfraction
* Acid erosion
* Attrition
Periodontium (gingiva, periodontal ligament, cementum, alveolus) – Gums and tooth-supporting structures
* Cementicle
* Cementoblastoma
* Gigantiform
* Cementoma
* Eruption cyst
* Epulis
* Pyogenic granuloma
* Congenital epulis
* Gingival enlargement
* Gingival cyst of the adult
* Gingival cyst of the newborn
* Gingivitis
* Desquamative
* Granulomatous
* Plasma cell
* Hereditary gingival fibromatosis
* Hypercementosis
* Hypocementosis
* Linear gingival erythema
* Necrotizing periodontal diseases
* Acute necrotizing ulcerative gingivitis
* Pericoronitis
* Peri-implantitis
* Periodontal abscess
* Periodontal trauma
* Periodontitis
* Aggressive
* As a manifestation of systemic disease
* Chronic
* Perio-endo lesion
* Teething
Periapical, mandibular and maxillary hard tissues – Bones of jaws
* Agnathia
* Alveolar osteitis
* Buccal exostosis
* Cherubism
* Idiopathic osteosclerosis
* Mandibular fracture
* Microgenia
* Micrognathia
* Intraosseous cysts
* Odontogenic: periapical
* Dentigerous
* Buccal bifurcation
* Lateral periodontal
* Globulomaxillary
* Calcifying odontogenic
* Glandular odontogenic
* Non-odontogenic: Nasopalatine duct
* Median mandibular
* Median palatal
* Traumatic bone
* Osteoma
* Osteomyelitis
* Osteonecrosis
* Bisphosphonate-associated
* Neuralgia-inducing cavitational osteonecrosis
* Osteoradionecrosis
* Osteoporotic bone marrow defect
* Paget's disease of bone
* Periapical abscess
* Phoenix abscess
* Periapical periodontitis
* Stafne defect
* Torus mandibularis
Temporomandibular joints, muscles of mastication and malocclusions – Jaw joints, chewing muscles and bite abnormalities
* Bruxism
* Condylar resorption
* Mandibular dislocation
* Malocclusion
* Crossbite
* Open bite
* Overbite
* Overeruption
* Overjet
* Prognathia
* Retrognathia
* Scissor bite
* Maxillary hypoplasia
* Temporomandibular joint dysfunction
Salivary glands
* Benign lymphoepithelial lesion
* Ectopic salivary gland tissue
* Frey's syndrome
* HIV salivary gland disease
* Necrotizing sialometaplasia
* Mucocele
* Ranula
* Pneumoparotitis
* Salivary duct stricture
* Salivary gland aplasia
* Salivary gland atresia
* Salivary gland diverticulum
* Salivary gland fistula
* Salivary gland hyperplasia
* Salivary gland hypoplasia
* Salivary gland neoplasms
* Benign: Basal cell adenoma
* Canalicular adenoma
* Ductal papilloma
* Monomorphic adenoma
* Myoepithelioma
* Oncocytoma
* Papillary cystadenoma lymphomatosum
* Pleomorphic adenoma
* Sebaceous adenoma
* Malignant: Acinic cell carcinoma
* Adenocarcinoma
* Adenoid cystic carcinoma
* Carcinoma ex pleomorphic adenoma
* Lymphoma
* Mucoepidermoid carcinoma
* Sclerosing polycystic adenosis
* Sialadenitis
* Parotitis
* Chronic sclerosing sialadenitis
* Sialectasis
* Sialocele
* Sialodochitis
* Sialosis
* Sialolithiasis
* Sjögren's syndrome
Orofacial soft tissues – Soft tissues around the mouth
* Actinomycosis
* Angioedema
* Basal cell carcinoma
* Cutaneous sinus of dental origin
* Cystic hygroma
* Gnathophyma
* Ludwig's angina
* Macrostomia
* Melkersson–Rosenthal syndrome
* Microstomia
* Noma
* Oral Crohn's disease
* Orofacial granulomatosis
* Perioral dermatitis
* Pyostomatitis vegetans
Other
* Eagle syndrome
* Hemifacial hypertrophy
* Facial hemiatrophy
* Oral manifestations of systemic disease
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-aminobutyric 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
|
Glossoptosis
|
c4280678
| 26,534 |
wikipedia
|
https://en.wikipedia.org/wiki/Glossoptosis
| 2021-01-18T18:38:28 |
{"mesh": ["D065710"], "umls": ["C4280678", "C0267048"], "wikidata": ["Q1532210"]}
|
From study of somatic cell hybrids, Gerald and Bruns (1978) suggested that susceptibility to coxsackievirus B3 is determined by a locus on chromosome 19 (as is also susceptibility to poliovirus, 173850; Echo 11 virus, 129150; and baboon virus, 109190). As their name indicates, the picornaviruses are very small and have RNA as their genetic material. They are among the most limited in the range of species they attack; thus, it is perhaps not surprising to find that specific genes are involved in determination of susceptibility.
*[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-aminobutyric 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
|
COXSACKIEVIRUS B3 SUSCEPTIBILITY
|
c1861511
| 26,535 |
omim
|
https://www.omim.org/entry/120050
| 2019-09-22T16:43:07 |
{"omim": ["120050"], "synonyms": ["Alternative titles", "CB3S"]}
|
## Summary
### Clinical characteristics.
Classic Joubert syndrome (JS) is characterized by three primary findings:
* A distinctive cerebellar and brain stem malformation called the molar tooth sign (MTS)
* Hypotonia
* Developmental delays
Often these findings are accompanied by episodic tachypnea or apnea and/or atypical eye movements. In general, the breathing abnormalities improve with age, truncal ataxia develops over time, and acquisition of gross motor milestones is delayed. Cognitive abilities are variable, ranging from severe intellectual disability to normal. Additional findings can include retinal dystrophy, renal disease, ocular colobomas, occipital encephalocele, hepatic fibrosis, polydactyly, oral hamartomas, and endocrine abnormalities. Both intra- and interfamilial variation are seen.
### Diagnosis/testing.
The clinical diagnosis of JS is based on the presence of characteristic clinical features and MRI findings. To date pathogenic variants in 34 genes are known to cause JS; 33 of these are autosomal recessive and one is X-linked. A molecular diagnosis of JS can be established in about 62%-94% of individuals with a clinical diagnosis of JS by identification of biallelic pathogenic variants in one of the 33 autosomal recessive JS-related genes or a heterozygous pathogenic variant in the one X-linked JS-related gene.
### Management.
Treatment of manifestations: Infants and children with abnormal breathing may require stimulatory medications (e.g., caffeine); supplemental oxygen; mechanical support; or tracheostomy in rare cases. Other interventions may include speech therapy for oromotor dysfunction; occupational and physical therapy; educational support, including special programs for the visually impaired; and feedings by gastrostomy tube. Surgery may be required for polydactyly and symptomatic ptosis and/or strabismus. Nephronophthisis, end-stage renal disease, liver failure and/or fibrosis are treated with standard approaches.
Surveillance: Annual evaluations of growth, vision, and liver and kidney function; periodic neuropsychologic and developmental testing.
Agents/circumstances to avoid: Nephrotoxic medications such as nonsteroidal anti-inflammatory drugs in those with renal impairment; hepatotoxic drugs in those with liver impairment.
### Genetic counseling.
JS is predominantly inherited in an autosomal recessive manner. JS caused by pathogenic variants in OFD1 is inherited in an X-linked manner. Digenic inheritance has been reported.
For autosomal recessive 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. Once the pathogenic variants have been identified in an affected family member, carrier testing for at-risk family members, prenatal testing for pregnancies at increased risk, and preimplantation genetic testing are possible. For pregnancies known to be at increased risk for JS, prenatal diagnosis by ultrasound examination with or without fetal MRI has been successful.
## Diagnosis
Diagnostic criteria for Joubert syndrome (JS) continue to evolve but most authors concur that the neuroradiologic finding of the molar tooth sign is obligatory [Valente et al 2008, Parisi 2009, Brancati et al 2010].
The diagnosis of Joubert syndrome is based on the presence of the following three primary criteria:
* The molar tooth sign. The MRI appearance of hypoplasia of the cerebellar vermis and accompanying brain stem abnormalities in an axial plane through the junction of the midbrain and pons (isthmus region) [Maria et al 1997, Maria et al 1999b, Quisling et al 1999]. The molar tooth sign comprises an abnormally deep interpeduncular fossa; prominent, straight, and thickened superior cerebellar peduncles; and hypoplasia of the vermis, the midline portion of the cerebellum (Figures 1A, 1B) [Maria et al 1999b]. A high-quality MRI with thin (3-mm thickness) axial cuts through the posterior fossa from the midbrain to the pons as well as standard axial, coronal, and sagittal cuts is recommended.
* Hypotonia in infancy with later development of ataxia
* Developmental delays / intellectual disability
#### Figure 1.
Molar tooth sign in Joubert syndrome A. Axial MRI image through the cerebellum and brain stem of a normal individual showing intact cerebellar vermis (outlined by white arrows)
Additional features often identified in individuals with JS:
* Abnormal breathing pattern (alternating tachypnea and/or apnea)
* Abnormal eye movements, typically oculomotor apraxia or difficulty in smooth visual pursuit and jerkiness in gaze and tracking [Saraiva & Baraitser 1992, Steinlin et al 1997, Maria et al 1999b, Tusa & Hove 1999]
Other findings that may occur in fewer than half of individuals with JS include retinal dystrophy, renal disease, ocular colobomas, occipital encephalocele, hepatic fibrosis, polydactyly, oral hamartomas, and other abnormalities. The term "classic" or "pure" JS has been used to refer to JS without any of these other findings. In reality, however, a significant proportion of individuals diagnosed with classic JS in infancy or early childhood may manifest one or more of these findings over time.
### Establishing the Diagnosis
The clinical diagnosis of JS is based on the presence of characteristic clinical features and MRI findings. To date pathogenic variants in 34 genes are known to cause JS; 33 of these are autosomal and one is X-linked. A molecular diagnosis of JS can be established in about 62%-94% of individuals with a clinical diagnosis of JS by identification of biallelic pathogenic variants in one of the 33 autosomal recessive JS-related genes or a heterozygous pathogenic variant in the one X-linked JS-related gene [Bachmann-Gagescu et al 2015a] (see Tables 1a and 1b).
Molecular genetic testing approaches can include a combination of gene-targeted testing (a multigene panel) and genomic testing (comprehensive genomic sequencing). Gene-targeted testing requires that the clinician determine which gene(s) are likely involved, whereas genomic testing does not. Because of the extensive clinical and genetic heterogeneity in JS, Vilboux et al [2017] have suggested starting with a multigene panel, followed by exome sequencing if a molecular diagnosis has not been established.
* A multigene panel that includes some or all of the 34 JS-genes and other genes of interest (see Genetically Related Disorders). 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 this disorder testing that includes deletion/duplication analysis is recommended (see Table 1).
For an introduction to multigene panels click here. More detailed information for clinicians ordering genetic tests can be found here.
* 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.
Note: While single-gene testing or serial single-gene testing is rarely useful and typically NOT recommended because of the vast clinical and genetic heterogeneity of JS, targeted analysis for pathogenic variants in a specific gene can be performed first in individuals of the following ethnicity/ancestry if appropriate:
* Ashkenazi Jewish: p.Arg73Leu in TMEM216 [Edvardson et al 2010]
* Dutch: p.Arg2904Ter in CPLANE1 [Kroes et al 2016]
* French Canadian: several variants in CPLANE1, CC2D2A, NPHP1, and TMEM231 [Srour et al 2015]
* Hutterite: p.Arg18Ter in TMEM237 [Huang et al 2011], c.363_364delTA in CSPP1 [Shaheen et al 2014]
* Japanese: c.6012-12T>A in CEP290 [Suzuki et al 2016]
See Table 1a for the most common genetic causes of JS (i.e., pathogenic variants of any one of the genes included in this table account for >1% of JS) and Table 1b for less common genetic causes of JS (pathogenic variants of any one of the genes included in this table are reported in only a few families).
### Table 1a.
Molecular Genetics of Joubert Syndrome: Most Common Genetic Causes
View in own window
Gene 1, 2% of JS Attributed to Pathogenic Variants in GeneProportion of Pathogenic Variants 3 Detected by Method
Sequence analysis 4Gene-targeted deletion/duplication analysis 5
AHI1~7%-10% 6, 7, 8>95%See footnote 9
CPLANE18%-14% 7, 8, 10100%None reported
CC2D2A~8%-11% 7, 8, 11Close to 100%See footnote 12
CEP2907%-10% 7, 8, 13, 14~99%See footnote 15
CSPP12%-4% 7, 8, 16100%None reported
INPP5E2%-4% 7, 8100%None reported
KIAA0586~2%-7% 8, 17Two reported, one recurrent multiexon deletion 18
MKS1~2%-6% 7, 8, 19~95%See footnote 20
NPHP1~1%-2% 7, 8, 21, 22See footnote 2220%-25% 22
RPGRIP1L1%-4% 7, 8, 23100%None reported
TCTN2~1% 713/13 24None reported
TMEM67~6%-20% 7, 8, 9, 12, 25~99%See footnote 26
TMEM216~2%-3% 7, 8, 278/8 26None reported
Pathogenic variants of any one of the genes included in this table account for >1% of JS.
1\.
Genes are listed alphabetically.
2\.
See Table A. Genes and Databases for chromosome locus and protein.
3\.
See Molecular Genetics for information on pathogenic variants detected.
4\.
Sequence analysis detects variants that are benign, likely benign, of uncertain significance, likely pathogenic, or pathogenic. Pathogenic variants may include small intragenic deletions/insertions and missense, nonsense, and splice site variants; typically, exon or whole-gene deletions/duplications are not detected. For issues to consider in interpretation of sequence analysis results, click here.
5\.
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\.
Parisi et al [2006], Valente et al [2006a]
7\.
Bachmann-Gagescu et al [2015a] tested 440 individuals from 375 families for pathogenic variants in 27 JS-related genes.
8\.
Vilboux et al [2017] identified pathogenic variants in 81 (94%) of 86 families tested (100 individuals total) using a combination of 27-gene multigene panel and exome sequencing.
9\.
Three reported [Utsch et al 2006, Bachmann-Gagescu et al 2015a, Watson et al 2016]
10\.
Kroes et al [2016] evaluated 22 JS-related genes and 599 additional ciliary genes in a cohort of 51 northern Europeans with JS. Unlike other cohorts, this group identified CPLANE1 pathogenic variants in 12% of their cohort.
11\.
Gorden et al [2008], Doherty et al [2010]. The prevalence of CC2D2A pathogenic variants in one large cohort was 16/209 (7.7%) [Bachmann-Gagescu et al 2012].
12\.
Two reported [Mougou-Zerelli et al 2009, Su et al 2015]
13\.
Data from Sayer et al [2006], Valente et al [2006b], Valente et al [2008], Travaglini et al [2009] and Bachmann-Gagescu et al [2015a] support 7%-10%. In contrast, only one of 51 cases (2%) in a northern European cohort was positive [Kroes et al 2016].
14\.
Suzuki et al [2016] reported 83% yield of variant analysis in a cohort of 30 families (all but 3 were Japanese), with pathogenic variants identified in TMEM67 (26% of cohort), CEP290 (22% of cohort) and OFD1, INPP5E, AHI1, and CPLANE1 (each in 7.4% of the cohort).
15\.
One reported [Travaglini et al 2009]
16\.
Tuz et al [2014], Akizu et al [2014]
17\.
Pathogenic variants in KIAA0586 accounted for nine (2.5%) of 366 families with JS in one cohort [Bachmann-Gagescu et al 2015b] but may be more prevalent than previously realized due to the high frequency of a single-base deletion (c.428delG) in the general population [Roosing et al 2015] and a broad range of clinical phenotypes [Alby et al 2015, Malicdan et al 2015].
18\.
In three of six individuals with compound heterozygous pathogenic variants in KIAA0586, one pathogenic variant was an 800-bp deletion of exons 8-10 [Malicdan et al 2015].
19\.
MKS1 pathogenic changes were identified in two separate series: in 2/260 individuals with JS [Romani et al 2014] and in 9/371 families with JS [Slaats et al 2016].
20\.
Four reported [Kyttälä et al 2006, Frank et al 2007, Abu-Safieh et al 2012, Szymanska et al 2012]
21\.
May be higher in individuals with nephronophthisis
22\.
Homozygous deletions have been associated with rare cases of JS. Deletion/duplication analysis alone will detect a heterozygous deletion but not a single-nucleotide variant in NPHP1; this genotype is expected to be rare. The common ~290 kb deletion is the most frequently detected.
23\.
Arts et al [2007], Delous et al [2007], Parisi [2009]
24\.
Juric-Sekhar et al [2012], Bachmann-Gagescu et al [2015a]
25\.
Baala et al [2007], Brancati et al [2009], Doherty et al [2010]
26\.
One reported [Khaddour et al 2007]
27\.
Fourteen (~3%) of 462 families with JS had pathogenic variants in TMEM216 [Valente et al 2010].
28\.
Valente et al [2010], Lee et al [2012b]
### Table 1b.
Molecular Genetics Joubert Syndrome: Less Common Genetic Causes
View in own window
Gene 1, 2, 3Comment
ARL13B2 families; phenotype ranged from classic JS to JS w/occipital encephalocele & pigmentary retinopathy [Cantagrel et al 2008]; no deletions/duplications reported.
B9D12 families, both w/"pure" form of JS; pathogenic variants in this gene also cause MKS. No deletions/duplications reported [Romani et al 2014].
B9D22 families, both w/polydactyly & 1 w/encephalocele, cleft palate, & tongue hamartomas; pathogenic variants in this gene also cause MKS. No deletions/duplications reported [Bachmann-Gagescu et al 2015a].
C2CD32 families identified in 1 series, both w/cleft palate and/or oral frenulae suggestive of features of OFD. No deletions/duplications reported [Bachmann-Gagescu et al 2015a].
CEP413 families w/8 individuals w/JS described w/pathogenic variants in CEP41, based on screening at least 725 individuals w/JS, many of whom had been excluded for pathogenic variants in known JS-related genes. Slightly more than 50% of affected persons have demonstrated unilateral or bilateral postaxial polydactyly. Only 2 individuals have evidence of retinal disease, 1 of whom had unilateral coloboma, unilateral kidney disease, & ambiguous genitalia & died at age 7 days. Within 1 family, all 5 affected males had micropenis & 2 had growth hormone deficiency. Only splice site variants have been identified; no deletions/duplications reported [Lee et al 2012a].
CEP1043 families, all w/"pure" form of JS; no deletions/duplications reported [Srour et al 2015].
CEP1204/491 individuals w/JS had missense, frameshift, nonsense, or splice variants in this gene; phenotypes ranged from "pure" JS to MKS, OFD, and JS-JATD; no large deletions/duplications reported [Shaheen et al 2015b, Roosing et al 2016a].
IFT1721/440 individuals with JS had missense pathogenic variants in this gene [Bachmann-Gagescu et al 2015a]. 2/12 families w/missense and/or truncating pathogenic variants had overlapping features of JS & JS-JATD (one w/Mainzer-Saldino syndrome features as well) including retinal dystrophy, hepatic fibrosis, NPHP, & cerebellar vermis hypoplasia. No deletions/duplications reported [Halbritter et al 2013].
KATNIP (KIAA0556)Homozygous truncating pathogenic variants in this gene identified in 3 sibs of a consanguineous family; 2/3 had panhypopituitarism (the male had micropenis & the female had a hypoplastic pituitary on MRI) [Sanders et al 2015]. In another consanguineous family, 2 sibs w/classic JS features had homozygous truncating pathogenic variants; no deletions/duplications reported [Roosing et al 2016b].
KIF73/440 families had pathogenic variants in this gene [Bachmann-Gagescu et al 2015a]. Individuals often have OFD features, w/ or w/out other CNS findings such as agenesis/hypoplasia of the corpus callosum, hydrocephalus, & macrocephaly [Dafinger et al 2011, Putoux et al 2011]. The combination of polydactyly & these CNS findings suggests acrocallosal and/or hydrolethalus syndromes [Putoux et al 2011]. Nonsense & frameshift pathogenic variants predominate; no deletions/duplications reported.
OFD1X-linked; no deletions/duplications reported. Pathogenic variants in this gene identified in 4/440 families [Bachmann-Gagescu et al 2015a] & in 2/250 families (2/84 w/only males affected) [Coene et al 2009]. Features include encephalocele, hydrocephalus, macrocephaly, polymicrogyria, polydactyly, & retinal disease. 1 family also had renal cystic disease, hydrocephalus, macrocephaly, & polymicrogyria [Field et al 2012].
PDE6DIn 1 consanguineous family w/3 sibs (w/a homozygous splice site variant), phenotype included renal hypoplasia, retinal dystrophy, microphthalmia, ocular coloboma, & postaxial polydactyly [Thomas et al 2014].
POC1BA homozygous pathogenic missense variant in this gene was identified in an extended Iraqi family with LCA, enlarged, polycystic kidneys (resembling ADPKD rather than NPHP), & classic features of JS w/out liver fibrosis. Of note, the same homozygous pathogenic variant was identified in a family w/severe & slowly progressive cone-rod dystrophy w/out features of JS [Beck et al 2014]. No deletions/duplications reported.
TCTN11/440 families had pathogenic variants in this gene [Bachmann-Gagescu et al 2015a]. Two sibs w/homozygous splice site variants had fronto-temporal pachygyria but no retinal or renal findings [Garcia-Gonzalo et al 2011]. No deletions/duplications reported.
TCTN31/440 families had pathogenic variants in this gene [Bachmann-Gagescu et al 2015a]. 1/58 families (for whom known JS-genes were excluded) had biallelic pathogenic variants [Thomas et al 2012]. Homozygous truncating variants were identified in 5 pedigrees w/a severe prenatal lethal form of OFD type IV (Mohr-Majewski syndrome); however, since the phenotype also included postaxial polydactyly, cystic renal disease, bile duct proliferation, & occipital encephalocele, it is debatable whether this represents a type of OFD or MKS. 2 probands from a Turkish family w/JS, who had a homozygous missense variant, had scoliosis w/variable polydactyly, oral findings, horseshoe kidney, & ventricular septal defect [Thomas et al 2012]. No deletions/duplications reported.
TMEM107Of 238 individuals w/JS or "OFD VI," 1 set of consanguineous twins who were homozygous for a missense variant in this gene had retinopathy & features of OFD including postaxial polydactyly; another male w/classic JS & retinopathy had compound heterozygous pathogenic variants [Lambacher et al 2016]. No deletions/duplications reported.
TMEM1381/440 families had pathogenic variants in this gene [Bachmann-Gagescu et al 2015a]. 11 individuals from 8 consanguineous Arab families had coloboma (6), retinal dystrophy (3), cystic kidney, or NPHP (3). Polydactyly has been observed; 1 fetus w/MKS had an encephalocele [Lee et al 2012b]. No deletions/duplications reported
TMEM231Pathogenic variants in this gene account for some individuals w/JS of French-Canadian descent. 3 persons in 2 families had a severe phenotype (lack of ambulation, aggressive behaviors, lack of independent living skills). 2 have macroscopic renal cysts & retinal disease; 1 has postaxial polysyndactyly [Srour et al 2012a]. A pathogenic gene conversion event between this gene & its pseudogene has been described [Maglic et al 2016].
TMEM2371/440 families had pathogenic variants in this gene [Bachmann-Gagescu et al 2015a]. Only 2/201 individuals w/JS & 90 individuals w/MKS/JS had pathogenic variants in this gene [Huang et al 2011]. This form of JS was originally described as MKS in the Hutterite population [Boycott et al 2007], in which the carrier rate is estimated at 6% [Huang et al 2011]. Encephalocele, hydrocephalus, & cystic kidney disease are common. The "morning glory disc anomaly" has also been described in an extended family from Austria w/biallelic pathogenic variants [Janecke et al 2004, Huang et al 2011]. A 24-kb deletion including TMEM237 exon 1 & 1a extending into the adjacent gene has been identified [Watson et al 2016].
TTC21BTo date, no individuals w/JS & biallelic pathogenic variants in this gene have been reported. The functional significance of a single (heterozygous) pathogenic variant is unknown. No clinical information was provided on 3 persons with a heterozygous change. See TTC21B, Pathogenic variants (pdf).
In a clinically diverse cohort of 753 individuals w/a ciliopathy, 5% had pathogenic variants in this gene; however, only 33% had a 2nd pathogenic variant in a different ciliopathy gene [Davis et al 2011].
ZNF4231 consanguineous family w/infantile-onset NPHP, cerebellar vermis hypoplasia, & situs inversus had homozygous pathogenic missense variants in this gene; 2/96 other individuals w/JS had heterozygous changes in the gene in specific interaction domains, leading to proposed (but not proven) loss of function via a dominant-negative mechanism [Chaki et al 2012]. No deletions/duplications reported.
Pathogenic variants of any one of the genes listed in this table are reported in only a few families (i.e., account for <1% of JS).
ADPKD = autosomal dominant polycystic kidney disease; JS-JATD = Jeune asphyxiating thoracic dystrophy; LCA = Leber congenital amaurosis; MKS = Meckel syndrome; NPHP = nephronophthisis; OFD = oral-facial-digital syndrome
1\.
Genes are listed alphabetically.
2\.
See Table A. Genes and Databases for chromosome locus and protein.
3\.
Genes are not described in detail in Molecular Genetics, but may be included here (pdf).
## Clinical Characteristics
### Clinical Description
Classic Joubert syndrome (JS) is characterized by the three primary findings of: a distinctive cerebellar and brain stem malformation called the molar tooth sign (MTS), hypotonia, and developmental delays. Often these findings are accompanied by episodic tachypnea or apnea and/or atypical eye movements. In general, the breathing abnormalities improve with age, truncal ataxia develops over time, and acquisition of gross motor milestones is delayed. Cognitive abilities are variable, ranging from severe intellectual disability to normal. Additional findings can include retinal dystrophy, renal disease, ocular colobomas, occipital encephalocele, hepatic fibrosis, polydactyly, oral hamartomas, and endocrine abnormalities. Table 2 associates phenotypic features with genes; Table 3 associates genes with phenotypic features. Both intra- and interfamilial phenotypic variation are seen in JS.
Many of the clinical features of JS are evident in infancy [Joubert et al 1969, Boltshauser & Isler 1977]. The findings of nystagmus, oculomotor apraxia, and abnormal breathing patterns can be observed in all clinical subtypes. Most children with JS develop truncal ataxia and, in combination with hypotonia, exhibit delayed acquisition of gross motor milestones.
Nystagmus. Many children with Joubert syndrome demonstrate horizontal nystagmus at birth that improves with age. Torsional and pendular rotatory nystagmus have also been observed.
Oculomotor apraxia is often identified in childhood rather than in infancy, perhaps because of under-recognition of the finding [Steinlin et al 1997]. Many children with oculomotor apraxia demonstrate head thrusting as a compensatory mechanism for their inability to initiate saccades [Hodgkins et al 2004, Khan et al 2008, Weiss et al 2009]. Horizontal head titubation (i.e., a "no-no" head tremor) has been described in infants and young children younger than age two years [Poretti et al 2014]. Visual acuity and functional vision may improve with age as a result of visual maturation, in spite of significantly aberrant eye movements at birth [M Parisi and A Weiss, personal observation].
Respiratory findings. Many children with JS exhibit apnea, tachypnea, or both, sometimes alternating, particularly in the neonatal period [Saraiva & Baraitser 1992, Steinlin et al 1997, Maria et al 1999a, Valente et al 2008]. Although some infants have died of apnea, episodic apnea generally improves with age and may completely disappear [Maria et al 1999b]. Children with JS are at increased risk for sleep apnea, including central (particularly in infancy and childhood) and obstructive (particularly in later childhood/adolescence related to tongue hypertrophy, hypotonia, and obesity) [Parisi 2009]. A survey of self-reported sleep behaviors in individuals with JS using a validated sleep questionnaire suggested sleep-related breathing disorders in six of the 14 individuals surveyed [Kamdar et al 2011]. Some individuals with Leber congenital amaurosis resulting from biallelic pathogenic variants in CEP290 have also been found to have abnormalities in motile respiratory cilia that may predispose to respiratory symptoms including chronic rhinitis, recurrent sinusitis, and bronchitis [Papon et al 2010].
Central nervous system findings
* Cognitive abilities are variable, ranging from severe intellectual disability to normal cognitive function [Poretti et al 2009]; a few individuals have attended college. When present, intellectual disability is typically in the moderate range [Steinlin et al 1997, Hodgkins et al 2004, Bulgheroni et al 2016, Summers et al 2017]. A correlation between severity of cerebellar vermis hypoplasia and cognitive impairment was identified in a study of 110 persons with JS [Poretti et al 2017].
* Speech apraxia, a common finding, may account for the observed discrepancy between speech comprehension and verbal abilities [Hodgkins et al 2004, Braddock et al 2006].
* Abnormal EEG and/or seizures are present in some affected individuals; the exact incidence is unknown [Saraiva & Baraitser 1992]. One study identified greater cognitive impairment in individuals with JS and an abnormal EEG [Summers et al 2017].
* Autism has been reported in some children with JS [Holroyd et al 1991, Ozonoff et al 1999]; however, more recent surveys suggest that many of these behavioral disturbances do not represent classic autism spectrum disorder [Takahashi et al 2005].
* Behavioral problems including inattention, hyperactivity, and atypical behaviors such as temper tantrums are present in some children and adolescents [Deonna & Ziegler 1993, Hodgkins et al 2004, Farmer et al 2006]. Emotional and behavior problems were reported in almost 40% in one survey of 54 individuals with JS [Bulgheroni et al 2016]. In another survey of 76 individuals, behavior problems were more likely to manifest as internalizing (anxiety, depression) than externalizing (aggression, oppositional defiance) [Summers et al 2017].
#### JS Clinical Subtypes
See Table 2 and Table 3.
### Table 2.
Joubert Syndrome: Clinical Subtypes
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Name of Clinical SubtypeMandatory Features in Addition to Primary Criteria 1Strongly Associated Features 2Other NamesGenes
(bold = major gene)
Classic or pure Joubert syndromeJS; JS type AMany genes
Joubert syndrome w/retinal disease (JS-Ret)Retinal dystrophy (including LCA)JS type BAHI1
CEP290
CEP41
INPP5E
MKS1
TMEM107
TMEM138
TMEM216
Joubert syndrome w/renal disease (JS-Ren)NPHP (includes cystic kidney disease)AHI1
CC2D2A
CEP290
NPHP1
OFD1
RPGRIP1L
TMEM138
TMEM216
TMEM237
ZNF423
Joubert syndrome w/oculorenal disease (JS-OR)Retinal dystrophy (incl LCA); NPHPCHF (occasional)JS type B; CORS; Senior-Løken syndrome; Dekaban-Arima syndromeAHI1
CC2D2A
CEP290
NPHP1
POC1B
RPGRIP1L
TMEM216
TMEM231
TMEM237
Joubert syndrome w/hepatic disease (JS-H)CHFColobomas; NPHPCOACH syndrome; Gentile syndromeCC2D2A
CEP290
INPP5E
RPGRIP1L
TMEM67
Joubert syndrome w/oral-facial-digital features (JS-OFD)Tongue hamartomas; oral frenulae; polydactyly 3Cleft lip/palateVaradi-Papp syndrome; OFD VI; OFD IV; Mohr-Majewski syndromeB9D2
C2CD3
CPLANE1
CEP120
KIF7
OFD1
TCTN2
TCTN3
TMEM107
TMEM216
Joubert syndrome w/acro-callosal features (JS-AC)Agenesis of corpus callosum; polydacyly 3HydrocephalusAcrocallosal syndromeKIF7
Joubert syndrome w/Jeune asphyxiating thoracic dystrophy features (JS-JATD)Skeletal dysplasia (short ribs, small thorax, short limbs, renal cystic disease)Polydactyly 3; cone-shaped epiphyses; CHFJeune asphyxiating thoracic dystrophy; Mainzer-Saldino syndromeCEP120
CSPP1
IFT172
KIAA0586
Adapted from Brancati et al [2010]. This classification scheme should not be interpreted as definitive, given the extreme clinical heterogeneity of the manifestations and the variable age of onset of many of these features.
AC = acro-callosal; CHF = congenital hepatic fibrosis ; COACH = cerebellar vermis hypoplasia, oligophrenia, ataxia, coloboma, and hepatic fibrosis; CORS = cerebello-oculo-renal syndromes; H = hepatic; JATD = Jeune asphyxiating thoracic dystrophy; LCA = Leber congenital amaurosis; NPHP = nephronophthisis; OFD = oral-facial-digital syndrome; OR = oculorenal; Ren = renal; Ret = retinal
1\.
Primary criteria = molar tooth sign (MTS), hypotonia, developmental delay (DD)
2\.
Other features including encephalocele, postaxial polydactyly, other structural brain malformations (including polymicrogyria), congenital heart defects, Hirschsprung disease, and situs defects can be seen in these subtypes but are not major features.
3\.
Polydactyly is often postaxial, especially of hands, and preaxial, especially of feet. Distinctive for OFD VI syndrome: mesaxial or central polydactyly with a Y-shaped metacarpal.
Joubert syndrome with retinal disease (JS-Ret) is characterized by a pigmentary retinopathy that may be indistinguishable from classic retinitis pigmentosa; it can occasionally be severe with neonatal onset of congenital blindness and an attenuated or extinguished electroretinogram that resembles Leber congenital amaurosis (LCA) [Tusa & Hove 1999]. However, the retinal disease may not be progressive and is not always present in infancy or early childhood [Steinlin et al 1997]. One survey of 235 families with JSRD identified retinal dystrophy in 30% [Doherty 2009].
* Ocular colobomas are most often described as chorioretinal [Saraiva & Baraitser 1992, Parisi 2009] and may be associated with hepatic fibrosis, as in the COACH syndrome variant [Doherty et al 2010]. One survey described colobomas in 19% of families with JSRD [Doherty 2009]. A retinal change described as the "morning glory disc anomaly" has been described in an extended Austrian family from the Tyrolean region with biallelic TMEM237 pathogenic variants [Janecke et al 2004, Huang et al 2011].
* Other. Variably present:
* Ptosis, strabismus, and/or amblyopia
* Third nerve palsy [Hodgkins et al 2004]
Joubert syndrome with renal disease (JS-Ren) has been described traditionally in two forms (nephronophthisis and cystic dysplasia); however, these now appear to be part of a continuum with the specific renal manifestation varying by stage of renal disease. Juvenile nephronophthisis, a form of chronic tubulointerstitial nephropathy, often presents in the first or second decade of life with polydipsia, polyuria, urine-concentrating defects, growth retardation, and/or anemia. Progression to end-stage renal disease occurs on average by age 13 years [Hildebrandt et al 1998]. Renal changes visible on ultrasound examination occur late in the course and consist of small, scarred kidneys with increased echogenicity and occasional cysts at the corticomedullary junction, findings consistent with cystic dysplasia (i.e., multiple variably sized cysts in immature kidneys with fetal lobulations) [Saraiva & Baraitser 1992, Steinlin et al 1997, Satran et al 1999].
In addition to the nephronophthisis and cystic dysplasia spectrum, a second type of renal disease that resembles autosomal recessive polycystic kidney disease (ARPKD) has been reported.
* Three individuals with JS caused by biallelic TMEM67 pathogenic variants were reported to have renal disease more typical of ARPKD, with enlarged, diffusely microcystic kidneys and early-onset severe hypertension as well as congenital hepatic fibrosis; in addition, they exhibited chronic anemia characteristic of nephronophthisis [Gunay-Aygun et al 2009].
* In the Hutterite population, approximately 70% of probands with JS caused by biallelic TMEM237 pathogenic variants have cystic renal disease and abnormal renal function, with hypertension reported in some [Boycott et al 2007, Huang et al 2011].
Renal disease has been reported in 23% [Doherty 2009] and 30% [Saraiva & Baraitser 1992] of persons with JS. These prevalence values may increase as a cohort ages, as renal disease can develop during childhood and adolescence [Steinlin et al 1997].
Joubert syndrome with oculorenal disease (JS-OR). Retinal disease and renal impairment often occur together in the same individual, and many of JS-related genes are associated with both renal cystic disease and retinal dystrophy, a combination sometimes known as Senior-Løken syndrome [Parisi 2009, Brancati et al 2010] (Table 2). In the past JS-OR was also known as Dekaban Arima syndrome (retinopathy, cystic dysplastic kidneys), which can be evident prenatally or at birth.
Joubert syndrome with hepatic disease (JS-H). Hepatic fibrosis is usually progressive but rarely symptomatic at birth. Congenital hepatic fibrosis is a developmental disorder of the portobiliary system characterized histologically by defective remodeling of the ductal plate (ductal plate malformation), abnormal branching of the intrahepatic portal veins, and progressive fibrosis of the portal tracts. Clinical findings include enlarged, abnormally shaped liver, relatively well-preserved hepatocellular function, and portal hypertension resulting in splenomegaly, hypersplenism, and gastroesophageal varices.
Hepatic fibrosis was observed in 18% of individuals with JS in one cohort [Doherty 2009].
When present in JS, hepatic fibrosis is often associated with chorioretinal colobomas and sometimes with renal disease. The combination of colobomas, cognitive impairment ("oligophrenia"), ataxia, cerebellar vermis hypoplasia, and hepatic fibrosis has been termed COACH syndrome [Satran et al 1999, Gleeson et al 2004, Doherty et al 2010].
Joubert syndrome with oral-facial-digital features (JS-OFD). Oral findings can include midline upper-lip cleft, midline groove of tongue, hamatomas of the alveolar ridge (Figure 2B), cleft palate, oral frenulae, and tongue lobulations or hamartomas. Craniofacial features often include wide-spaced eyes or telecanthus, hypoplastic alae nasi, and micrognathia.
#### Figure 2.
Clinical features in JSRD A. Facial features in a girl with JS/COACH syndrome at age 27 months showing broad forehead, arched eyebrows, strabismus, eyelid ptosis (on right eye), and open mouth configuration indicating reduced facial tone
Polydactyly is described in 8%-19% of probands [Doherty 2009, Brancati et al 2010]. Polydactyly can be unilateral or bilateral and is often postaxial (Figure 2C), although preaxial polydactyly of the toes is also frequently reported (Figure 2D) [Saraiva & Baraitser 1992].
Mesaxial polydactyly, in which the extra digit occurs between the central digits and is often accompanied by a Y-shaped metacarpal, has been described in some individuals with JS, many of whom have other features of oral-facial-digital syndrome type VI/Varadi-Papp syndrome [Gleeson et al 2004]. OFD VI has now been defined as a form of JS, requiring the MTS as well as one or more of the following features: tongue hamartoma/oral frenula/upper-lip notch, mesaxial polydactyly, and hypothalamic hamartoma [Poretti et al 2012].
Joubert syndrome with acrocallosal features (JS-AC). Agenesis of the corpus callosum is common in JS [Valente et al 2005]. In one survey of 20 individuals with JS, 80% had some degree of callosal dysgenesis [Senocak et al 2010]. Callosal abnormalities are relatively frequent in those with biallelic KIF7 pathogenic variants [Bachmann-Gagescu et al 2015a], suggesting overlap with acrocallosal syndrome (see Genetically Related Disorders) in which polydactyly and hydrocephalus are also seen [Putoux et al 2011].
Joubert syndrome with Jeune asphyxiating thoracic dystrophy (JS-JATD). Features of JATD (see Genetically Related Disorders) and the related short-rib thoracic dysplasia condition, Mainzer-Saldino syndrome, have been reported in several children with a JS, reflecting the shared ciliary origin of these conditions [Lehman et al 2010, Halbritter et al 2013, Shaheen et al 2015b].
#### Other Findings in JS Not Specific to a Given Subtype
Scoliosis has been described, most likely related to early hypotonia.
Endocrine abnormalities have been described; they include pituitary hormone dysfunction ranging from isolated growth hormone deficiency or thyroid hormone deficiency to more extensive panhypopituitarism or micropenis in males [Delous et al 2007, Wolf et al 2007, Parisi 2009, Sanders et al 2015].
Obesity may be increased in JS, suggesting an association with the ciliary disorder Bardet-Biedl syndrome; the identification of biallelic pathogenic variants in INPP5E in both JS and MORM syndrome (mental retardation, obesity, retinal dystrophy, and micropenis) reinforces this association [Bielas et al 2009, Jacoby et al 2009].
Typical facial features including long face with bitemporal narrowing, high-arched eyebrows, ptosis, prominent nasal bridge with anteverted nostrils, triangular-shaped mouth, prognathism, and low-set ears are sometimes described [Maria et al 1999a] (Figure 2A); however, these features can be difficult to discern in infancy and are thus far nonspecific. Nonetheless, many observers report a "Joubert syndrome facies" [Braddock et al 2007]. The craniofacial features in those with biallelic KIF7 pathogenic variants often include macrocephaly, frontal bossing, hypertelorism, high palate, and micrognathia [Dafinger et al 2011, Putoux et al 2011].
Heart defects have been described in a number of individuals with JS, in some cases assocated with features of oral-facial-digital syndrome, and have included septal defects, aortic valve anomalies, and coarctation of the aorta [Bachmann-Gagescu et al 2015a].
Laterality defects including situs inversus are seen in some individuals [Parisi 2009].
Hirschsprung disease has been described in a few individuals [Brancati et al 2010].
Conductive hearing loss may result from middle ear infections [Kroes et al 2010]. Sensorineural hearing loss has been described.
Tongue hypertrophy. Many have rhythmic tongue movements that may lead to tongue hypertrophy.
Other CNS malformations
* Cerebellar hemisphere enlargement [Poretti et al 2017], cerebellar heterotopias [Saraiva & Baraitser 1992] and cerebellar folial disorganization [Senocak et al 2010, Poretti et al 2011]
* Abnormal collections of cerebrospinal fluid in the fourth ventricle or the posterior fossa that resemble Dandy-Walker malformation; in approximately 10% of individuals in one survey [Maria et al 2001] and in ~42% in another [Poretti et al 2017]
* Occipital encephalocele (Figure 2E) or meningocele [Genel et al 2004]
* Abnormal brain stem and hypothalamic hamartomas, particularly in those with oral-facial-digital syndrome type VI-related findings [Poretti et al 2011]
* Ventriculomegaly [Quisling et al 1999, Senocak et al 2010, Putoux et al 2011] or hydrocephalus requiring shunting without classic signs of Dandy-Walker malformation [Genel et al 2004]
* Hippocampal malformation/malrotation, described in 80% in individuals in one limited survey [Senocak et al 2010] and in 15%-18% in two larger surveys [Poretti et al 2011, Poretti et al 2017]
* Cortical anomalies including heterotopias, dysplasia, pachygyria, polymicrogyria [Gleeson et al 2004, Dixon-Salazar et al 2004], and neuroepithelial cysts [Marsh et al 2004, Senocak et al 2010]
* Abnormal nuclei and tracts of the pons, cerebellum, and medulla based on neuropathologic evaluation [Doherty 2009]; absence of decussation of the corticospinal and superior cerebellar tracts based on diffusion tensor imaging [Poretti et al 2007]; and abnormal activation patterns during motor tasks based on functional MRI studies [Parisi et al 2004b]
### Phenotype Correlations by Gene
Table 3 includes preliminary information on genotype-phenotype correlations.
### Table 3.
Genes Associated with JS by Phenotypic Features
View in own window
GenePhenotypic Feature (in addition to the molar tooth sign)Allelic/Related Disorder 3
Retinal dystrophyColoboma 1RenalOculorenal 2Hepatic 1OralPolydactylyOther
AHI1++ 4(+)\+ 5+(+)Polymicrogyria 6
CPLANE1(+)\+ 7\+ 7Founder effects in French-Canadian 8 & Dutch populations 9OFD VI
CC2D2A++++\+ 10Encephalocele, ventriculomegaly, seizures 11; milder phenotype in French-Canadian population 12Meckel syndrome 13
CEP290+++++++ 14+Encephalocele; cardiac; situs inversus; other 15LCA, Meckel syndrome, BBS
CSPP1(+)(+)(+)(+)SNHL; corpus callosum hypoplasia; encephalocele; founder variant in Hutterite population 16Meckel syndrome, JATD 17
INPP5E+++(+)+MORM syndrome 18
KIAA0586(+)+(+)(+)Broad range of phenotypes: severe HLS (& cleft palate) to JATD w/short ribs & narrow thorax to pure JS 19HLS, JATD
MKS1(+)Kidney/liver findings & PD described in 1 individual 20Meckel syndrome
NPHP1++++"Mild molar tooth" sometimes described 21Juvenile NPHP type 1, Cogan syndrome
RPGRIP1L(+)(+)+++(+)(+)EncephaloceleMeckel syndrome, retinal disease 22
TCTN2 21Clubfoot 23Meckel syndrome 24
TMEM67\+ 25+++ 26, 27(+)EncephaloceleMeckel syndrome 28
TMEM216 29(+)(+)+++(+)++Cardiac findings; encephaloceleMeckel syndrome
(+) = feature is uncommon but has been described; + = feature is present in some cases; ++ = Major feature; HLS = hydrolethalus syndrome; NPHP = nephronophthisis; LCA = Leber congenital amaurosis; BBS = Bardet-Biedl syndrome; MORM = mental retardation, truncal obesity, retinal dystrophy, micropenis [Jacoby et al 2009]; OFD = oral-facial-digital syndrome; PD = polydactyly; JATD = jeune asphyxiating thoracic dystrophy; SNHL = sensorineural hearing loss
1\.
May include COACH syndrome: cerebellar vermis hypoplasia, oligophrenia, ataxia, coloboma, and hepatic fibrosis
2\.
This refers to retinal disease plus kidney disease; terms used in the past include: Senior-Løken syndrome (retinopathy and juvenile-onset nephronophthisis); Dekaban-Arima syndrome (retinopathy, cystic dysplastic kidneys).
3\.
See Genetically Related Disorders for details.
4\.
The most common clinical association in those with biallelic AHI1 pathogenic variants is retinal dystrophy, present in approximately 80% [Valente et al 2008]. Early-onset congenital blindness [Valente et al 2006a] and liver involvement [Vilboux et al 2017] have been described.
5\.
Renal disease consistent with nephronophthisis has also been described [Parisi et al 2006, Utsch et al 2006].
6\.
Dixon-Salazar et al [2004], Gleeson et al [2004]
7\.
The phenotype most closely resembles pure or classic Joubert syndrome, with several individuals exhibiting preaxial, postaxial, and/or mesaxial polydactyly and a few with retinal involvement [Srour et al 2015] or liver involvement [Vilboux et al 2017]. None of the affected individuals (ranging in age from 1.5 to 52 years) has evidence of renal impairment or liver disease [Srour et al 2012a, Srour et al 2012b, Srour et al 2015]. Pathogenic variants in this gene also cause OFD VI, with features of preaxial and/or mesaxial polydactyly and hypothalamic hamartoma typical [Lopez et al 2014, Romani et al 2015].
8\.
Pathogenic variants in this gene are the cause of JS in the original family described by Joubert et al [1969]. Several pathogenic variants recur in the French-Canadian population found in the lower St. Lawrence region of Quebec province [Srour et al 2012b, Srour et al 2015].
9\.
Kroes et al [2016]
10\.
Hepatic involvement has been described [Gorden et al 2008, Noor et al 2008].
11\.
Those with pathogenic variants in CC2D2A have an increased likelihood of ventriculomegaly and seizures [Bachmann-Gagescu et al 2012].
12\.
Srour et al [2012a]
13\.
Null alleles are associated with the Meckel syndrome phenotype and missense and/or hypomorphic variants with JS [Tallila et al 2008, Mougou-Zerelli et al 2009].
14\.
Up to 50% of individuals with both retinal and renal involvement harbor biallelic pathogenic variants in CEP290 [Valente et al 2008].
15\.
The phenotypic spectrum is very broad, including congenital blindness, ocular colobomas, renal disease, encephaloceles, septal heart disease, and situs abnormalities.
16\.
Shaheen et al [2014], Vilboux et al [2017]
17\.
Pathogenic variants in this gene have been described in phenotypes ranging from classic JS with occasional retinopathy and sensorineural hearing loss [Akizu et al 2014] to the JS-JATD phenotype with features of Jeune skeletal dysplasia [Tuz et al 2014] to a lethal MKS-like phenotype [Shaheen et al 2014]. Thin corpus callosum, occipital encephalocele, and heterotopias have also been described [Akizu et al 2014, Tuz et al 2014].
18\.
Jacoby et al [2009]
19\.
Pathogenic variants in this gene cause a wide spectrum of ciliopathy phenotypes, from "pure" JS with relatively mild manifestations and impairment [Bachmann-Gagescu et al 2015b, Roosing et al 2015] to features of Jeune asphyxiating thoracic dystrophy (small chest, short ribs, short stature) [Alby et al 2015, Malicdan et al 2015] to severe features of hydrolethalus syndrome with hydrocephalus and fetal or perimatal demise [Alby et al 2015]. This broad range of phenotypes is not explained by the nature of the pathogenic variants, as many afftected individuals have homozygous or compound heterozygous truncating variants due to frameshifts, aberrant splice, or nonsense variants.
20\.
Individuals with JS caused by MKS1 pathogenic variants have at least one variant with partial function (e.g., a missense variant that retains some function), in contrast to more severe variants described in those with MKS [Romani et al 2014, Slaats et al 2016]. Most of the affected individuals have a relatively mild phenotype, characterized by classic JS with or without retinal dystrophy. Only one reported individual (out of a group of 9 with pathogenic variants in this gene) had additional features of renal echogenicity, liver fibrosis, and postaxial polydactyly [Slaats et al 2016].
21\.
Some individuals with biallelic pathogenic variants in NPHP1 and JS have a distinctive appearance of the molar tooth sign: elongated but thin superior cerebellar peduncles and milder vermis hypoplasia [Parisi et al 2004a].
22\.
RPGRIP1L pathogenic variants also cause Meckel syndrome. Of note, more severe loss-of-function pathogenic variants predict a more severe (and in many cases, lethal) Meckel phenotype [Delous et al 2007, Wolf et al 2007].
23\.
A limited number of individuals with pathogenic variants in this gene has been described; thus, the phenotypic spectrum is unknown [Sang et al 2011].
24\.
Shaheen et al [2011]
25\.
Biallelic pathogenic variants in TMEM67 were present in 53% of those with ocular coloboma regardless of liver status [Doherty et al 2010].
26\.
Biallelic pathogenic variants in TMEM67 account for 70% of all JS with liver involvement [Doherty et al 2010, Iannicelli et al 2010].
27\.
Baala et al [2007], Brancati et al [2009], Doherty et al [2010], Vilboux et al [2017]
28\.
More severe loss-of-function variants in TMEM67 have been identified in individuals with lethal forms of Meckel syndrome [Smith et al 2006], in comparison with variants with partial function causing JS with hepatic disease or nephronophthisis and liver fibrosis in the absence of the molar tooth sign and other neurologic symptoms [Otto et al 2009, Doherty et al 2010].
29\.
Nephronophthisis and polydactyly are common; some individuals have features of OFD [Edvardson et al 2010, Valente et al 2010].
### Nomenclature
The term "Joubert syndrome and related disorders" (JSRD) has been used in the past to describe conditions that share the molar tooth sign and the clinical features of classic Joubert syndrome and also have other organ system involvement. In an evolving nomenclature designed to reduce reliance on confusing and inconsistently used eponyms, at least eight clinical subtypes of JS that share the three primary findings have been proposed (Table 2) [Brancati et al 2010]. More recently, "Joubert syndrome" has become the accepted term to describe all forms of JS.
In the past, some of the following disorders were described as distinct syndromes, but more recent studies indicate that many individuals with these disorders demonstrate the molar tooth sign [Satran et al 1999, Gleeson et al 2004]. Examples of such autosomal recessive disorders include the following:
* Dekaban-Arima syndrome (retinopathy, cystic dysplastic kidneys) [Dekaban 1969]
* Senior-Løken syndrome (SLS; retinopathy and juvenile-onset nephronophthisis) [Løken et al 1961, Senior et al 1961]
* COACH syndrome (cerebellar vermis hypoplasia, oligophrenia, ataxia, coloboma, and hepatic fibrosis) [Verloes & Lambotte 1989, Gentile et al 1996]
* Varadi-Papp syndrome (oral-facial-digital syndrome VI [OFD VI]) includes cerebellar vermis hypoplasia, oral frenulae, tongue hamartomas, and midline cleft lip as well as the distinctive feature of central polydactyly with a Y-shaped metacarpal [Münke et al 1990]. Renal and cardiac involvement have been described.
### Prevalence
The prevalence of Joubert syndrome (JS) has not been determined. Many authors use a range between 1:80,000 and 1:100,000, but this may represent an underestimate [Kroes et al 2007, Parisi et al 2007, Brancati et al 2010].
There is a relatively high prevalence of JS in the French-Canadian population, with several founder variants noted. The family first described by Joubert et al [1969] has been traced to a founder who immigrated to Quebec from France in the 1600s [Badhwar et al 2000]. However, in this family and others, it appears that there are multiple CPLANE1 pathogenic variant-containing haplotypes in the French-Canadian population. In fact, in 35 French-Canadian families, pathogenic variants were identified in 33 (94%) in the following genes (number of affected families given in parentheses): CPLANE1 (14), CC2D2A (9), NPHP1 (3), TMEM231 (2); and CEP290, TMEM67, TCTN1, OFD1, B9D1, C2CD3, and CEP104 (1 family each). Many French-Canadian individuals are compound heterozygous for different pathogenic variants in either CPLANE1, CC2D2A, TMEM231, or NPHP1 [Srour et al 2012a, Srour et al 2012b, Srour et al 2015].
A different founder variant in CPLANE1, p.Arg2904Ter, occurs in the Dutch population [Kroes et al 2016].
A TMEM216 founder variant, p.Arg73Leu, has a carrier rate of 1:92-1:100 in the Ashkenazi Jewish population [Edvardson et al 2010, Valente et al 2010].
In a Canadian Hutterite population, ten related individuals with a MKS-like phenotype including encephaloceles and cystic kidneys were homozygous for a nonsense pathogenic variant (c.52C>T; p.Arg18Ter) in TMEM237, reflecting a carrier frequency of 6% in this population [Huang et al 2011]. Two different Schmiedeleut Hutterite families had the same homozygous pathogenic frameshift variant, c.363_364delTA, in CSPP1 [Shaheen et al 2014], representing a separate founder variant.
In a survey of Japanese families with JS, 6/27 had pathogenic variants in CEP290, with c.6012-12T>A found on nine out of 12 disease alleles; 7/27 families had pathogenic variants in TMEM67 but no founder alleles were identified [Suzuki et al 2016].
## Differential Diagnosis
Disorders in the differential diagnosis include the disorders discussed in Genetically Related Disorders.
## Management
### Evaluations Following Initial Diagnosis
To establish the extent of disease in an individual diagnosed with Joubert syndrome (JS), the following baseline evaluations to identify the extent of disease in affected infants/children are recommended [Parisi et al 2007] (full text). Recommendations were developed by a consensus panel and are outlined on the Joubert Syndrome and Related Disorders Foundation website.
* Examination of high-quality MRI scan to assess for cerebral malformations, neuronal migration disorders, or cephaloceles that could portend a poorer prognosis or seizures, if not done at the time of diagnosis
* A baseline neurologic evaluation with particular attention to tone, respiratory pattern (tachypnea and apnea), eye movements, development, and cerebellar function
* Sleep history with polysomnogram as baseline evaluation and particularly if symptomatic apnea is present
* Assessment of oromotor function by a speech therapist and/or by fluoroscopic swallowing studies
* Developmental assessment with age-appropriate tools
* Evaluation by a pediatric ophthalmologist via dilated eye examination for colobomas and retinal changes, as well as strabismus and ptosis, with consideration of specialized testing such as visual-evoked potentials, electroretinogram, and ocular motility testing
* Abdominal ultrasound examination to evaluate for hepatic fibrosis or renal cysts and/or findings consistent with nephronophthisis (e.g., loss of corticomedullary differentiation)
* Tests of renal function, including blood pressure, blood urea nitrogen (BUN), serum creatinine concentration, complete blood count (CBC), and urinalysis from first-morning void for specific gravity to test concentrating ability (if feasible)
* Liver function tests including serum concentrations of transaminases, albumin, bilirubin, and prothrombin time
* For males with micropenis or any child with signs of growth hormone deficiency, endocrine evaluation for other pituitary abnormalities
* Skeletal survey and/or limb radiographs if there is suspicion of a skeletal dysplasia such as short-rib polydactyly or JATD
* Consultation with a clinical geneticist to document family history, to evaluate growth and head size, and to evaluate for other anomalies including polydactyly, dysmorphic facial features, tongue tumors/lobulations, and micropenis
### Treatment of Manifestations
Respiratory
* Infants and children with abnormal breathing patterns should be considered for apnea monitoring if the abnormality is severe. Supportive therapy may include stimulatory medications such as caffeine or supplementary oxygen, particularly in the newborn period.
* Anesthetic management during surgical procedures for infants with significant respiratory disturbance may be accomplished in some cases by the use of:
* Regional anesthesia without opioids to avoid exacerbation of apneic episodes [Vodopich & Gordon 2004];
* Alpha-2 agonists such as clonidine or dexmedetomidine to avoid respiratory depression and other complications of opioids while achieving motion-free images [Sriganesh et al 2014].
* In rare cases, mechanical support and/or tracheostomy may be considered in a child with severe respiratory dysfunction.
* Aggressive treatment of middle ear infections is indicated to avoid conductive hearing loss.
Hypotonia and therapeutic interventions
* Appropriate management and therapy of oromotor dysfunction by a speech therapist
* Nasogastric feeding tubes or gastrostomy tube placement for feeding in children with severe dysphagia
* Occupational, physical, and speech therapy through early intervention programs
* Individualized educational assessment and support for school-aged children to maximize school performance
* Periodic neuropsychologic and developmental testing at appropriate ages
Other CNS malformations
* Neurosurgical consultation is indicated for those with evidence of hydrocephalus (rapidly increasing head circumference and/or bulging fontanelle). Note: When hydrocephalus occurs in JS, it rarely requires shunting.
* Posterior fossa cysts and fluid collections rarely require intervention.
* Encephalocele may require primary surgical closure.
* Seizures should be evaluated and treated by a neurologist using standard antiepileptic drugs.
* A variety of psychotropic medications have been used to treat the behavioral complications in Joubert syndrome; no single medication has been uniformly effective for all children.
Ophthalmologic
* Surgery as needed for symptomatic ptosis, strabismus, or amblyopia
* Corrective lenses for refractive errors
* Possible vision therapies for oculomotor apraxia, although specific studies are lacking in this disorder
* Interventions for the visually impaired when congenital blindness or progressive retinal dystrophy are present
Renal disease
* Consultation with a nephrologist is indicated.
* End-stage renal disease (ESRD) resulting from nephronophthisis frequently requires dialysis and/or kidney transplantation during the teenage years or later.
* Hypertension, anemia, and other complications of ESRD require specific treatment.
Hepatic fibrosis
* Consultation with a gastroenterologist is indicated.
* Liver failure and/or fibrosis should be managed by a gastroenterologist with arrangements for surgical intervention such as portal shunting for esophageal varices and portal hypertension, as appropriate.
* Some individuals have needed orthotopic liver transplantation.
Skeletal
* Surgical treatment for polydactyly
* Appropriate medical management by an orthopedic specialist for scoliosis
Other
* Orofacial clefting is treated by standard surgical interventions.
* Tongue tumors that impair normal swallowing or cause respiratory obstruction may require surgical resection.
* Symptoms of obstructive sleep apnea and/or tongue hypertrophy in older individuals may require evaluation with a polysomnogram and/or by an otolaryngologist for consideration of adenoidectomy, tonsillectomy, or surgical tongue reduction. Some children have used BiPAP or C-PAP at night.
* Consultation with an endocrinologist for menstrual irregularities and for pituitary hormone deficiency (with hormone replacement as indicated) is appropriate.
* Obesity should be managed with appropriate measures, including diet, exercise, and behavioral therapies
* Congenital heart defects and situs abnormalities should be treated by conventional therapies.
* Surgical correction of Hirschsprung disease (if present) is indicated.
### Prevention of Secondary Complications
Antibiotic prophylaxis for surgical and dental procedures is indicated for individuals with structural cardiac anomalies.
### Surveillance
Because no uniformly reliable distinguishing characteristics allow prediction of the complications that may develop in an infant or young child with Joubert syndrome, a number of annual evaluations are recommended (see also Joubert Syndrome and Related Disorders Foundation website):
* Pediatric and neurologic evaluation and monitoring of growth, sexual maturation, breathing (including apnea symptoms), and motor function
* Neuropsychological and developmental evaluation and testing, as appropriate
* Ophthalmologic evaluation for visual acuity, tracking ability, and development of retinal dystrophy
* Abdominal ultrasound examination for evaluation of possible liver and kidney abnormalities
* Liver function tests
* Evaluation of renal function: measurement of blood pressure, serum concentrations of BUN and creatinine, CBC, and assessment of first-morning void urinalysis
### Agents/Circumstances to Avoid
Individuals with renal impairment should avoid nephrotoxic medications such as nonsteroidal anti-inflammatory drugs.
Individuals with liver impairment should avoid hepatotoxic medications.
### Evaluation of Relatives at Risk
Sibs or relatives who have clinical features similar to those of an individual with JS warrant genetic consultation. If the pathogenic variant(s) have been identified in a proband, testing symptomatic relatives for these pathogenic variants is appropriate.
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-aminobutyric 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
|
Joubert Syndrome
|
c0431399
| 26,536 |
gene_reviews
|
https://www.ncbi.nlm.nih.gov/books/NBK1325/
| 2021-01-18T21:16:57 |
{"mesh": ["C536293"], "synonyms": ["JBTS", "Joubert Syndrome and Related Disorders (JSRD)", "JS"]}
|
Gyrate atrophy of the choroid and retina, which is often shortened to gyrate atrophy, is an inherited disorder characterized by progressive vision loss. People with this disorder have an ongoing loss of cells (atrophy) in the retina, which is the specialized light-sensitive tissue that lines the back of the eye, and in a nearby tissue layer called the choroid. During childhood, they begin experiencing nearsightedness (myopia), difficulty seeing in low light (night blindness), and loss of side (peripheral) vision. Over time, their field of vision continues to narrow, resulting in tunnel vision. Many people with gyrate atrophy also develop clouding of the lens of the eyes (cataracts). These progressive vision changes lead to blindness by about the age of 50.
Most people with gyrate atrophy have no symptoms other than vision loss, but some have additional features of the disorder. Occasionally, newborns with gyrate atrophy develop excess ammonia in the blood (hyperammonemia), which may lead to poor feeding, vomiting, seizures, or coma. Neonatal hyperammonemia associated with gyrate atrophy generally responds quickly to treatment and does not recur after the newborn period.
Gyrate atrophy usually does not affect intelligence; however, abnormalities may be observed in brain imaging or other neurological testing. In some cases, mild to moderate intellectual disability is associated with gyrate atrophy.
Gyrate atrophy may also cause disturbances in the nerves connecting the brain and spinal cord to muscles and sensory cells (peripheral nervous system). In some people with the disorder these abnormalities lead to numbness, tingling, or pain in the hands or feet, while in others they are detectable only by electrical testing of the nerve impulses.
In some people with gyrate atrophy, a particular type of muscle fibers (type II fibers) break down over time. While this muscle abnormality usually causes no symptoms, it may result in mild weakness.
## Frequency
More than 150 individuals with gyrate atrophy have been identified; approximately one third are from Finland.
## Causes
Mutations in the OAT gene cause gyrate atrophy. The OAT gene provides instructions for making the enzyme ornithine aminotransferase. This enzyme is active in the energy-producing centers of cells (mitochondria), where it helps break down a molecule called ornithine. Ornithine is involved in the urea cycle, which processes excess nitrogen (in the form of ammonia) that is generated when protein is broken down by the body. In addition to its role in the urea cycle, ornithine participates in several reactions that help ensure the proper balance of protein building blocks (amino acids) in the body. This balance is important because a specific sequence of amino acids is required to build each of the many different proteins needed for the body's functions. The ornithine aminotransferase enzyme helps convert ornithine into another molecule called pyrroline-5-carboxylate (P5C). P5C can be converted into the amino acids glutamate and proline.
OAT gene mutations that cause gyrate atrophy result in a reduced amount of functional ornithine aminotransferase enzyme. A shortage of this enzyme impedes the conversion of ornithine into P5C. As a result, excess ornithine accumulates in the blood (hyperornithinemia), and less P5C than normal is produced. It is not clear how these changes result in the specific signs and symptoms of gyrate atrophy. Researchers have suggested that a deficiency of P5C may interfere with the function of the retina. It has also been proposed that excess ornithine may suppress the production of a molecule called creatine. Creatine is needed for many tissues in the body to store and use energy properly. It is involved in providing energy for muscle contraction, and it is also important in nervous system functioning.
### Learn more about the gene associated with Gyrate atrophy of the choroid and retina
* OAT
## 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-aminobutyric 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
|
Gyrate atrophy of the choroid and retina
|
c0018425
| 26,537 |
medlineplus
|
https://medlineplus.gov/genetics/condition/gyrate-atrophy-of-the-choroid-and-retina/
| 2021-01-27T08:25:20 |
{"gard": ["6556"], "mesh": ["D015799"], "omim": ["258870"], "synonyms": []}
|
Nasal glial heterotopia is a rare developmental abnormality presenting usually at birth or in early childhood (rarely in adulthood) as a benign, non-pulsatile mass that can lead to nasal obstruction, deformation of the septum and nasal bone, and respiratory distress if untreated. Nasal glial heterotopias have no communication with the central nervous system; however an associated defect in the cribriform plate is sometimes 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-aminobutyric 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
|
Nasal glial heterotopia
|
c0266490
| 26,538 |
orphanet
|
https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=141112
| 2021-01-23T18:29:55 |
{"umls": ["C0266490"], "synonyms": ["Nasal glioma"]}
|
This article needs additional citations for verification. Please help improve this article by adding citations to reliable sources. Unsourced material may be challenged and removed.
Find sources: "Hyporeflexia" – news · newspapers · books · scholar · JSTOR (November 2016) (Learn how and when to remove this template message)
Hyporeflexia
Other namesHypo-reflexia
SpecialtyNeurology
Hyporeflexia refers to below normal or absent reflexes (areflexia). It can be detected through the use of a reflex hammer. It is the opposite of hyperreflexia. Hyporeflexia is generally associated with a lower motor neuron deficit (at the alpha motor neurons from spinal cord to muscle), whereas hyperreflexia is often attributed to upper motor neuron lesions (along the long, motor tracts from the brain). The upper motor neurons are thought to inhibit the reflex arc, which is formed by sensory neurons from intrafusal fibers of muscles, lower motor neurons (including alpha and gamma motor fibers) and appurtenant interneurons. Therefore, damage to lower motor neurons will subsequently result in hyporeflexia and/or areflexia.
Note that, in spinal shock, which is commonly seen in the transection of the spinal cord (Spinal cord injury), areflexia can transiently occur below the level of the lesion and can, after some time, become hyperreflexic. Furthermore, cases of severe muscle atrophy or destruction could render the muscle too weak to show any reflex and should not be confused with a neuronal cause.
Hyporeflexia may have other causes, including hypothyroidism, electrolyte imbalance (e.g. excess magnesium), drug induced (e.g. the symptoms of benzodiazepine intoxication include confusion, slurred speech, ataxia, drowsiness, dyspnea, and hyporeflexia).[1]
Diseases associated with hyporeflexia include:
* Centronuclear myopathy
* Guillain–Barré syndrome
* Lambert-Eaton myasthenic syndrome[2]
* Polyneuropathy (Achilles and plantar reflexes)
## See also[edit]
* Hyperreflexia, exaggerated reflexes.
* MEGF10
## References[edit]
1. ^ "Reflex, Abnormal - MeSH - NCBI". www.ncbi.nlm.nih.gov. Retrieved 2019-04-03.
2. ^ Wirtz, P. W.; Kuks, J. B.; Wintzen, A. R.; Verschuuren, J. J. (2001-01-13). "[Proximal muscle weakness, depressed tendon reflexes and autonomic dysfunction: the Lambert-Eaton myasthenic syndrome]". Nederlands Tijdschrift voor Geneeskunde. 145 (2): 57–61. ISSN 0028-2162. PMID 11225256.
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-aminobutyric 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
|
Hyporeflexia
|
c0700078
| 26,539 |
wikipedia
|
https://en.wikipedia.org/wiki/Hyporeflexia
| 2021-01-18T18:32:10 |
{"umls": ["C0700078"], "wikidata": ["Q1419356"]}
|
Ichthyosis hystrix
SpecialtyDermatology
Ichthyosis hystrix is a group of rare skin disorders in the ichthyosis family of skin disorders characterized by massive hyperkeratosis with an appearance like spiny scales.[1] This term is also used to refer to a type of epidermal nevi with extensive bilateral distribution.[1][2]
## Contents
* 1 Types
* 1.1 Ichthyosis hystrix, Curth-Macklin type
* 1.2 Ichthyosis hystrix, Lambert type
* 1.3 Hystrix-like ichthyosis with deafness syndrome
* 1.4 Ichthyosis hystrix, Baefvertstedt type
* 2 Diagnosis
* 3 Treatment
* 4 See also
* 5 References
* 6 External links
## Types[edit]
### Ichthyosis hystrix, Curth-Macklin type[edit]
Edward Lambert, an Englishman who suffered from ichthyosis hystrix.
The symptoms of ichthyosis hystrix Curth-Macklin are similar to epidermolytic hyperkeratosis (NPS-2 type) but there is no blistering and the hyperkeratosis is verrucous or spine-like. The hyperkeratosis is brown-grey in colour and is most obvious on the arms and legs. It is an autosomal dominant condition and can be caused by errors to the KRT1 gene.[3][4] It is named after Helen Ollendorff Curth (1899-1982), a German-Jewish dermatologist, and Madge Thurlow Macklin (1893–1962),[5] an American medical geneticist, and is one of the first syndromes named after two women.[6]
### Ichthyosis hystrix, Lambert type[edit]
Also known as ichthyosis hystrix gravior or porcupine man. This disease is characterised by spiny scales which cover the entire body except the face, genitals, palms and soles. The only known cases were in Edward Lambert (known as the porcupine man) who was exhibited in front of the Royal Society in London in 1731 and three generations of his descendants. No cases of this disease are now known though some experts believe that it may have been a type of epidermolytic hyperkeratosis. From the history of the Lambert family the disease appears to have been an autosomal dominant condition.[1][7]
### Hystrix-like ichthyosis with deafness syndrome[edit]
HID syndrome is also known as ichthyosis hystrix, Rheydt type after the German city of Rheydt near Düsseldorf where it was first discovered. Symptoms are bilateral hearing loss and spiky hyperkeratotic masses which cover the whole body though the palms and soles are less badly affected. It can be differentiated from KID syndrome which also has symptoms of deafness and ichthyosis by the different distribution of hyperkeratosis. It is an autosomal dominant condition caused by a mutation to the GJB2 gene (the same gene affected by KID syndrome).[8][9]
### Ichthyosis hystrix, Baefvertstedt type[edit]
An extremely rare disease of which only a few isolated cases are known.[1]
## Diagnosis[edit]
This section is empty. You can help by adding to it. (February 2018)
## Treatment[edit]
This section is empty. You can help by adding to it. (February 2018)
## See also[edit]
* List of cutaneous conditions
* List of cutaneous conditions caused by mutations in keratins
* List of radiographic findings associated with cutaneous conditions
## References[edit]
1. ^ a b c d Ichthyosis hystrix, DermIS
2. ^ Freedberg; et al. (2003). Fitzpatrick's Dermatology in General Medicine (6th ed.). McGraw-Hill. p. 771. ISBN 0-07-138076-0.
3. ^ Online Mendelian Inheritance in Man (OMIM): Ichthyosis hystrix, Curth-Macklin type - 146590
4. ^ "Ichthyosis hystrix of Curth-Macklin". Rare Disease Registry. University of Padua.
5. ^ Al Aboud, Khalid; Al Aboud, Daifullah (2011). "Helen Ollendorff Curth and Curth-Macklin Syndrome" (PDF). The Open Dermatology Journal. 5: 28–30. doi:10.2174/1874372201105010028. Archived from the original (PDF) on 2014-05-04. Retrieved 2013-05-05.
6. ^ Burgdorf WH, Scholz A (July 2004). "Helen Ollendorff Curth and William Curth: from Breslau and Berlin to Bar Harbor". J. Am. Acad. Dermatol. 51 (1): 84–9. doi:10.1016/j.jaad.2003.12.035. PMID 15243529.
7. ^ Online Mendelian Inheritance in Man (OMIM): Ichthyosis hystrix gravior - 146600
8. ^ König A, Küster W, Berger R, Happle R (December 1997). "Autosomal dominant inheritance of HID syndrome (hystrix-likeichthyosis with deafness)". European Journal of Dermatology. 7 (8): 554–5.
9. ^ Online Mendelian Inheritance in Man (OMIM): Ichthyosis, Hystrix-like, with deafness - 602540
## External links[edit]
Classification
D
* ICD-10: Q80.8
* OMIM: 146590 146600 602540
* MeSH: C536087
* v
* t
* e
Congenital malformations and deformations of integument / skin disease
Genodermatosis
Congenital ichthyosis/
erythrokeratodermia
AD
* Ichthyosis vulgaris
AR
* Congenital ichthyosiform erythroderma: Epidermolytic hyperkeratosis
* Lamellar ichthyosis
* Harlequin-type ichthyosis
* Netherton syndrome
* Zunich–Kaye syndrome
* Sjögren–Larsson syndrome
XR
* X-linked ichthyosis
Ungrouped
* Ichthyosis bullosa of Siemens
* Ichthyosis follicularis
* Ichthyosis prematurity syndrome
* Ichthyosis–sclerosing cholangitis syndrome
* Nonbullous congenital ichthyosiform erythroderma
* Ichthyosis linearis circumflexa
* Ichthyosis hystrix
EB
and related
* EBS
* EBS-K
* EBS-WC
* EBS-DM
* EBS-OG
* EBS-MD
* EBS-MP
* JEB
* JEB-H
* Mitis
* Generalized atrophic
* JEB-PA
* DEB
* DDEB
* RDEB
* related: Costello syndrome
* Kindler syndrome
* Laryngoonychocutaneous syndrome
* Skin fragility syndrome
Ectodermal dysplasia
* Naegeli syndrome/Dermatopathia pigmentosa reticularis
* Hay–Wells syndrome
* Hypohidrotic ectodermal dysplasia
* Focal dermal hypoplasia
* Ellis–van Creveld syndrome
* Rapp–Hodgkin syndrome/Hay–Wells syndrome
Elastic/Connective
* Ehlers–Danlos syndromes
* Cutis laxa (Gerodermia osteodysplastica)
* Popliteal pterygium syndrome
* Pseudoxanthoma elasticum
* Van der Woude syndrome
Hyperkeratosis/
keratinopathy
PPK
* diffuse: Diffuse epidermolytic palmoplantar keratoderma
* Diffuse nonepidermolytic palmoplantar keratoderma
* Palmoplantar keratoderma of Sybert
* Meleda disease
* syndromic
* connexin
* Bart–Pumphrey syndrome
* Clouston's hidrotic ectodermal dysplasia
* Vohwinkel syndrome
* Corneodermatoosseous syndrome
* plakoglobin
* Naxos syndrome
* Scleroatrophic syndrome of Huriez
* Olmsted syndrome
* Cathepsin C
* Papillon–Lefèvre syndrome
* Haim–Munk syndrome
* Camisa disease
* focal: Focal palmoplantar keratoderma with oral mucosal hyperkeratosis
* Focal palmoplantar and gingival keratosis
* Howel–Evans syndrome
* Pachyonychia congenita
* Pachyonychia congenita type I
* Pachyonychia congenita type II
* Striate palmoplantar keratoderma
* Tyrosinemia type II
* punctate: Acrokeratoelastoidosis of Costa
* Focal acral hyperkeratosis
* Keratosis punctata palmaris et plantaris
* Keratosis punctata of the palmar creases
* Schöpf–Schulz–Passarge syndrome
* Porokeratosis plantaris discreta
* Spiny keratoderma
* ungrouped: Palmoplantar keratoderma and spastic paraplegia
* desmoplakin
* Carvajal syndrome
* connexin
* Erythrokeratodermia variabilis
* HID/KID
Other
* Meleda disease
* Keratosis pilaris
* ATP2A2
* Darier's disease
* Dyskeratosis congenita
* Lelis syndrome
* Dyskeratosis congenita
* Keratolytic winter erythema
* Keratosis follicularis spinulosa decalvans
* Keratosis linearis with ichthyosis congenita and sclerosing keratoderma syndrome
* Keratosis pilaris atrophicans faciei
* Keratosis pilaris
Other
* cadherin
* EEM syndrome
* immune system
* Hereditary lymphedema
* Mastocytosis/Urticaria pigmentosa
* Hailey–Hailey
see also Template:Congenital malformations and deformations of skin appendages, Template:Phakomatoses, Template:Pigmentation disorders, Template:DNA replication and repair-deficiency disorder
Developmental
anomalies
Midline
* Dermoid cyst
* Encephalocele
* Nasal glioma
* PHACE association
* Sinus pericranii
Nevus
* Capillary hemangioma
* Port-wine stain
* Nevus flammeus nuchae
Other/ungrouped
* Aplasia cutis congenita
* Amniotic band syndrome
* Branchial cyst
* Cavernous venous malformation
* Accessory nail of the fifth toe
* Bronchogenic cyst
* Congenital cartilaginous rest of the neck
* Congenital hypertrophy of the lateral fold of the hallux
* Congenital lip pit
* Congenital malformations of the dermatoglyphs
* Congenital preauricular fistula
* Congenital smooth muscle hamartoma
* Cystic lymphatic malformation
* Median raphe cyst
* Melanotic neuroectodermal tumor of infancy
* Mongolian spot
* Nasolacrimal duct cyst
* Omphalomesenteric duct cyst
* Poland anomaly
* Rapidly involuting congenital hemangioma
* Rosenthal–Kloepfer syndrome
* Skin dimple
* Superficial lymphatic malformation
* Thyroglossal duct cyst
* Verrucous vascular malformation
* Birthmark
* v
* t
* e
Cytoskeletal defects
Microfilaments
Myofilament
Actin
* Hypertrophic cardiomyopathy 11
* Dilated cardiomyopathy 1AA
* DFNA20
* Nemaline myopathy 3
Myosin
* Elejalde syndrome
* Hypertrophic cardiomyopathy 1, 8, 10
* Usher syndrome 1B
* Freeman–Sheldon syndrome
* DFN A3, 4, 11, 17, 22; B2, 30, 37, 48
* May–Hegglin anomaly
Troponin
* Hypertrophic cardiomyopathy 7, 2
* Nemaline myopathy 4, 5
Tropomyosin
* Hypertrophic cardiomyopathy 3
* Nemaline myopathy 1
Titin
* Hypertrophic cardiomyopathy 9
Other
* Fibrillin
* Marfan syndrome
* Weill–Marchesani syndrome
* Filamin
* FG syndrome 2
* Boomerang dysplasia
* Larsen syndrome
* Terminal osseous dysplasia with pigmentary defects
IF
1/2
* Keratinopathy (keratosis, keratoderma, hyperkeratosis): KRT1
* Striate palmoplantar keratoderma 3
* Epidermolytic hyperkeratosis
* IHCM
* KRT2E (Ichthyosis bullosa of Siemens)
* KRT3 (Meesmann juvenile epithelial corneal dystrophy)
* KRT4 (White sponge nevus)
* KRT5 (Epidermolysis bullosa simplex)
* KRT8 (Familial cirrhosis)
* KRT10 (Epidermolytic hyperkeratosis)
* KRT12 (Meesmann juvenile epithelial corneal dystrophy)
* KRT13 (White sponge nevus)
* KRT14 (Epidermolysis bullosa simplex)
* KRT17 (Steatocystoma multiplex)
* KRT18 (Familial cirrhosis)
* KRT81/KRT83/KRT86 (Monilethrix)
* Naegeli–Franceschetti–Jadassohn syndrome
* Reticular pigmented anomaly of the flexures
3
* Desmin: Desmin-related myofibrillar myopathy
* Dilated cardiomyopathy 1I
* GFAP: Alexander disease
* Peripherin: Amyotrophic lateral sclerosis
4
* Neurofilament: Parkinson's disease
* Charcot–Marie–Tooth disease 1F, 2E
* Amyotrophic lateral sclerosis
5
* Laminopathy: LMNA
* Mandibuloacral dysplasia
* Dunnigan Familial partial lipodystrophy
* Emery–Dreifuss muscular dystrophy 2
* Limb-girdle muscular dystrophy 1B
* Charcot–Marie–Tooth disease 2B1
* LMNB
* Barraquer–Simons syndrome
* LEMD3
* Buschke–Ollendorff syndrome
* Osteopoikilosis
* LBR
* Pelger–Huet anomaly
* Hydrops-ectopic calcification-moth-eaten skeletal dysplasia
Microtubules
Kinesin
* Charcot–Marie–Tooth disease 2A
* Hereditary spastic paraplegia 10
Dynein
* Primary ciliary dyskinesia
* Short rib-polydactyly syndrome 3
* Asphyxiating thoracic dysplasia 3
Other
* Tauopathy
* Cavernous venous malformation
Membrane
* Spectrin: Spinocerebellar ataxia 5
* Hereditary spherocytosis 2, 3
* Hereditary elliptocytosis 2, 3
Ankyrin: Long QT syndrome 4
* Hereditary spherocytosis 1
Catenin
* APC
* Gardner's syndrome
* Familial adenomatous polyposis
* plakoglobin (Naxos syndrome)
* GAN (Giant axonal neuropathy)
Other
* desmoplakin: Striate palmoplantar keratoderma 2
* Carvajal syndrome
* Arrhythmogenic right ventricular dysplasia 8
* plectin: Epidermolysis bullosa simplex with muscular dystrophy
* Epidermolysis bullosa simplex of Ogna
* plakophilin: Skin fragility syndrome
* Arrhythmogenic right ventricular dysplasia 9
* centrosome: PCNT (Microcephalic osteodysplastic primordial dwarfism type II)
Related topics: Cytoskeletal proteins
* v
* t
* e
Diseases of ion channels
Calcium channel
Voltage-gated
* CACNA1A
* Familial hemiplegic migraine 1
* Episodic ataxia 2
* Spinocerebellar ataxia type-6
* CACNA1C
* Timothy syndrome
* Brugada syndrome 3
* Long QT syndrome 8
* CACNA1F
* Ocular albinism 2
* CSNB2A
* CACNA1S
* Hypokalemic periodic paralysis 1
* Thyrotoxic periodic paralysis 1
* CACNB2
* Brugada syndrome 4
Ligand gated
* RYR1
* Malignant hyperthermia
* Central core disease
* RYR2
* CPVT1
* ARVD2
Sodium channel
Voltage-gated
* SCN1A
* Familial hemiplegic migraine 3
* GEFS+ 2
* Febrile seizure 3A
* SCN1B
* Brugada syndrome 6
* GEFS+ 1
* SCN4A
* Hypokalemic periodic paralysis 2
* Hyperkalemic periodic paralysis
* Paramyotonia congenita
* Potassium-aggravated myotonia
* SCN4B
* Long QT syndrome 10
* SCN5A
* Brugada syndrome 1
* Long QT syndrome 3
* SCN9A
* Erythromelalgia
* Febrile seizure 3B
* Paroxysmal extreme pain disorder
* Congenital insensitivity to pain
Constitutively active
* SCNN1B/SCNN1G
* Liddle's syndrome
* SCNN1A/SCNN1B/SCNN1G
* Pseudohypoaldosteronism 1AR
Potassium channel
Voltage-gated
* KCNA1
* Episodic ataxia 1
* KCNA5
* Familial atrial fibrillation 7
* KCNC3
* Spinocerebellar ataxia type-13
* KCNE1
* Jervell and Lange-Nielsen syndrome
* Long QT syndrome 5
* KCNE2
* Long QT syndrome 6
* KCNE3
* Brugada syndrome 5
* KCNH2
* Short QT syndrome
* KCNQ1
* Jervell and Lange-Nielsen syndrome
* Romano–Ward syndrome
* Short QT syndrome
* Long QT syndrome 1
* Familial atrial fibrillation 3
* KCNQ2
* BFNS1
Inward-rectifier
* KCNJ1
* Bartter syndrome 2
* KCNJ2
* Andersen–Tawil syndrome
* Long QT syndrome 7
* Short QT syndrome
* KCNJ11
* TNDM3
* KCNJ18
* Thyrotoxic periodic paralysis 2
Chloride channel
* CFTR
* Cystic fibrosis
* Congenital absence of the vas deferens
* CLCN1
* Thomsen disease
* Myotonia congenita
* CLCN5
* Dent's disease
* CLCN7
* Osteopetrosis A2, B4
* BEST1
* Vitelliform macular dystrophy
* CLCNKB
* Bartter syndrome 3
TRP channel
* TRPC6
* FSGS2
* TRPML1
* Mucolipidosis type IV
Connexin
* GJA1
* Oculodentodigital dysplasia
* Hallermann–Streiff syndrome
* Hypoplastic left heart syndrome
* GJB1
* Charcot–Marie–Tooth disease X1
* GJB2
* Keratitis–ichthyosis–deafness syndrome
* Ichthyosis hystrix
* Bart–Pumphrey syndrome
* Vohwinkel syndrome)
* GJB3/GJB4
* Erythrokeratodermia variabilis
* Progressive symmetric erythrokeratodermia
* GJB6
* Clouston's hidrotic ectodermal dysplasia
Porin
* AQP2
* Nephrogenic diabetes insipidus 2
See also: ion channels
*[v]: 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-aminobutyric 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
|
Ichthyosis hystrix
|
c0432311
| 26,540 |
wikipedia
|
https://en.wikipedia.org/wiki/Ichthyosis_hystrix
| 2021-01-18T18:34:24 |
{"gard": ["9497"], "mesh": ["C536087"], "umls": ["C0432311"], "icd-10": ["Q80.8"], "orphanet": ["79504"], "wikidata": ["Q5986448"]}
|
A number sign (#) is used with this entry because of evidence that abnormal hair, joint laxity, and developmental delay (HJDD) is caused by compound heterozygous mutation in the HEPHL1 gene (618455) on chromosome 11q21. One such patient has been reported.
Description
Abnormal hair, joint laxity, and developmental delay (HJDD) is characterized by normal hair at birth that gradually becomes sparse, twisted, brittle, and easily broken, with pili torti and trichorrhexis nodosa observed on light microscopy. Other features include increased joint mobility and cognitive delay (Sharma et al., 2019).
Clinical Features
Among the children of a healthy Puerto Rican couple related as first cousins, Shapira et al. (1992) observed a brother and sister with growth and developmental delay, mild to moderate neurologic abnormalities, and pili torti with unusual findings in the hair shafts on electron microscopy. The sibs' newborn hair was gradually replaced with kinky brittle hair of lighter color, and at ages 7 years and 5.5 years, their scalp hair was sparse, thin, and kinky, with a yellow-orange color that faded upon sun exposure. They exhibited mild ligamentous laxity and were myopic, but hearing tests were normal. Their developmental milestones had been delayed compared to older sibs, and they showed mild generalized hypotonia and mild to moderate truncal ataxia with broad-based unsteady gait. Laboratory evaluation revealed mildly elevated serum lactate and copper levels, with normal serum ceruloplasmin and 24-hour urinary copper excretion. Light microscopy showed thin hair shafts with abnormal twisting and irregular shapes but no banding under polarized light; electron microscopy showed cuticle erosions and transverse fissures. Quadriceps muscle biopsy showed fiber atrophy and a tendency to fiber-type grouping, suggestive of chronic mild neurogenic atrophy. Shapira et al. (1992) concluded that 'these sibs represent a distinct, previously unreported, probably autosomal recessive syndrome.'
Sharma et al. (2019) reported a 5-year-old boy of Native American and Mexican descent who had abnormal hair and cognitive dysfunction. At birth his hair was thick, black, and distributed evenly on his scalp, but in infancy he experienced anterior hair loss that progressed to total alopecia by 6 months of age. At age 3, his mother noticed a regression in acquired skills, and evaluation showed his language ability to be equivalent to 21 months with poor articulation. On examination at age 5 years, he had elfin facies, absent lateral third of eyelashes, sparse eyebrows, and coarse hair texture with a patchy distribution. Published photographs showed hair to be orangish-brown in color. Light microscopy of short and long hairs revealed pili torti and trichorrhexis nodosa. Other features in the proband included brittle hypoplastic nails and increased mobility of all joints, especially the thumbs. He had attention-deficit/hyperactivity disorder, which responded well to medication. His gait, muscle tone, strength, and reflexes were normal. Serum copper and ceruloplasmin levels were normal.
Molecular Genetics
In a 5-year-old boy with abnormal hair, joint laxity, and developmental delay, Sharma et al. (2019) performed whole-exome sequencing and identified compound heterozygosity for mutations in the HEPHL1 gene (618455.0001 and 618455.0002), inherited from his unaffected parents. The mutations were present in the ExAC and gnomAD databases, but at extremely low frequencies and not in homozygosity.
INHERITANCE \- Autosomal recessive HEAD & NECK Face \- Elfin facies Eyes \- Sparse eyebrows \- Absent lateral third of eyelashes \- Prominent markings of upper eyelids \- Prominent infraorbital folds Teeth \- Small teeth \- Slightly discolored teeth CARDIOVASCULAR Heart \- Mitral regurgitation, mild \- Tricuspid regurgitation, mild \- Pulmonic regurgitation, mild SKELETAL Limbs \- Joint hypermobility \- Increased carrying angle at elbows Hands \- Increased mobility of thumbs \- Short fourth and fifth metacarpals Feet \- Clinodactyly, mild (toes 4-5) \- Syndactyly (toes 2-3) SKIN, NAILS, & HAIR Nails \- Brittle nails \- Hypoplastic nails Hair \- Sparse eyebrows \- Absent lateral third of eyelashes \- Coarse brittle scalp hair \- Patchy distribution of scalp hair \- Pili torti \- Trichorrhexis nodosa NEUROLOGIC Central Nervous System \- Cognitive delay \- Poor speech articulation Behavioral Psychiatric Manifestations \- Attention-deficit/hyperactivity disorder MISCELLANEOUS \- Based on report of 1 patient (last curated June 2019) \- Normal hair at birth MOLECULAR BASIS \- Caused by mutation in the hephaestin-like protein-1 gene (HEPHL1, 618455.0001 ) ▲ 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-aminobutyric 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
|
ABNORMAL HAIR, JOINT LAXITY, AND DEVELOPMENTAL DELAY
|
c1849811
| 26,541 |
omim
|
https://www.omim.org/entry/261990
| 2019-09-22T16:23:33 |
{"mesh": ["C537398"], "omim": ["261990"], "orphanet": ["2891"], "synonyms": ["Alternative titles", "PILI TORTI AND DEVELOPMENTAL DELAY"]}
|
Chorea-acanthocytosis is primarily a neurological disorder that affects movement in many parts of the body. Chorea refers to the involuntary jerking movements made by people with this disorder. People with this condition also have abnormal star-shaped red blood cells (acanthocytosis). This condition is one of a group of conditions called neuroacanthocytoses that involve neurological problems and abnormal red blood cells.
In addition to chorea, another common feature of chorea-acanthocytosis is involuntary tensing of various muscles (dystonia), such as those in the limbs, face, mouth, tongue, and throat. These muscle twitches can cause vocal tics (such as grunting), involuntary belching, and limb spasms. Eating can also be impaired as tongue and throat twitches can interfere with chewing and swallowing food. People with chorea-acanthocytosis may uncontrollably bite their tongue, lips, and inside of the mouth. Nearly half of all people with chorea-acanthocytosis have seizures.
Individuals with chorea-acanthocytosis may develop difficulty processing, learning, and remembering information (cognitive impairment). They may have reduced sensation and weakness in their arms and legs (peripheral neuropathy) and muscle weakness (myopathy). Impaired muscle and nerve functioning commonly cause speech difficulties in individuals with this condition, and can lead to an inability to speak.
Behavioral changes are a common feature of chorea-acanthocytosis and may be the first sign of this condition. These behavioral changes may include changes in personality, obsessive-compulsive disorder (OCD), lack of self-restraint, and the inability to take care of oneself.
The signs and symptoms of chorea-acanthocytosis usually begin in early to mid-adulthood. The movement problems of this condition worsen with age. Loss of cells (atrophy) in certain brain regions is the major cause of the neurological problems seen in people with chorea-acanthocytosis.
## Frequency
It is estimated that 500 to 1,000 people worldwide have chorea-acanthocytosis.
## Causes
Mutations in the VPS13A gene cause chorea-acanthocytosis. The VPS13A gene provides instructions for producing a protein called chorein; the function of this protein in the body is unknown. Some researchers believe that chorein plays a role in the movement of proteins within cells. Most VPS13A gene mutations lead to the production of an abnormally small, nonfunctional version of chorein. The VPS13A gene is active (expressed) throughout the body; it is unclear why mutations in this gene affect only the brain and red blood cells.
### Learn more about the gene associated with Chorea-acanthocytosis
* VPS13A
## 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-aminobutyric 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
|
Chorea-acanthocytosis
|
c0393576
| 26,542 |
medlineplus
|
https://medlineplus.gov/genetics/condition/chorea-acanthocytosis/
| 2021-01-27T08:24:59 |
{"gard": ["3956"], "mesh": ["D054546"], "omim": ["200150"], "synonyms": []}
|
Watson syndrome
SpecialtyMedical genetics
Watson syndrome is an autosomal dominant condition characterized by Lisch nodules of the ocular iris, axillary/inguinal freckling, pulmonary valvular stenosis, relative macrocephaly, short stature, and neurofibromas.[1]Watson syndrome is allelic to NF1, the same gene associated with neurofibromatosis type 1.[2]
## See also[edit]
* Westerhof syndrome
* List of cutaneous conditions
## References[edit]
1. ^ Rapini, Ronald P.; Bolognia, Jean L.; Jorizzo, Joseph L. (2007). Dermatology: 2-Volume Set. St. Louis: Mosby. pp. 725, 831. ISBN 978-1-4160-2999-1.
2. ^ Allanson JE, Upadhyaya M, Watson GH, et al. (November 1991). "Watson syndrome: is it a subtype of type 1 neurofibromatosis?" (PDF). J. Med. Genet. 28 (11): 752–6. doi:10.1136/jmg.28.11.752. PMC 1017110. PMID 1770531.
## External links[edit]
Classification
D
* ICD-10: Q87.1
* OMIM: 193520
* MeSH: D009456
* DiseasesDB: 32244
External resources
* Orphanet: 3444
* v
* t
* e
Phakomatosis
Angiomatosis
* Sturge–Weber syndrome
* Von Hippel–Lindau disease
Hamartoma
* Tuberous sclerosis
* Hypothalamic hamartoma (Pallister–Hall syndrome)
* Multiple hamartoma syndrome
* Proteus syndrome
* Cowden syndrome
* Bannayan–Riley–Ruvalcaba syndrome
* Lhermitte–Duclos disease
Neurofibromatosis
* Type I
* Type II
Other
* Abdallat–Davis–Farrage syndrome
* Ataxia telangiectasia
* Incontinentia pigmenti
* Peutz–Jeghers syndrome
* Encephalocraniocutaneous lipomatosis
* v
* t
* e
Deficiencies of intracellular signaling peptides and proteins
GTP-binding protein regulators
GTPase-activating protein
* Neurofibromatosis type I
* Watson syndrome
* Tuberous sclerosis
Guanine nucleotide exchange factor
* Marinesco–Sjögren syndrome
* Aarskog–Scott syndrome
* Juvenile primary lateral sclerosis
* X-Linked mental retardation 1
G protein
Heterotrimeic
* cAMP/GNAS1: Pseudopseudohypoparathyroidism
* Progressive osseous heteroplasia
* Pseudohypoparathyroidism
* Albright's hereditary osteodystrophy
* McCune–Albright syndrome
* CGL 2
Monomeric
* RAS: HRAS
* Costello syndrome
* KRAS
* Noonan syndrome 3
* KRAS Cardiofaciocutaneous syndrome
* RAB: RAB7
* Charcot–Marie–Tooth disease
* RAB23
* Carpenter syndrome
* RAB27
* Griscelli syndrome type 2
* RHO: RAC2
* Neutrophil immunodeficiency syndrome
* ARF: SAR1B
* Chylomicron retention disease
* ARL13B
* Joubert syndrome 8
* ARL6
* Bardet–Biedl syndrome 3
MAP kinase
* Cardiofaciocutaneous syndrome
Other kinase/phosphatase
Tyrosine kinase
* BTK
* X-linked agammaglobulinemia
* ZAP70
* ZAP70 deficiency
Serine/threonine kinase
* RPS6KA3
* Coffin-Lowry syndrome
* CHEK2
* Li-Fraumeni syndrome 2
* IKBKG
* Incontinentia pigmenti
* STK11
* Peutz–Jeghers syndrome
* DMPK
* Myotonic dystrophy 1
* ATR
* Seckel syndrome 1
* GRK1
* Oguchi disease 2
* WNK4/WNK1
* Pseudohypoaldosteronism 2
Tyrosine phosphatase
* PTEN
* Bannayan–Riley–Ruvalcaba syndrome
* Lhermitte–Duclos disease
* Cowden syndrome
* Proteus-like syndrome
* MTM1
* X-linked myotubular myopathy
* PTPN11
* Noonan syndrome 1
* LEOPARD syndrome
* Metachondromatosis
Signal transducing adaptor proteins
* EDARADD
* EDARADD Hypohidrotic ectodermal dysplasia
* SH3BP2
* Cherubism
* LDB3
* Zaspopathy
Other
* NF2
* Neurofibromatosis type II
* NOTCH3
* CADASIL
* PRKAR1A
* Carney complex
* PRKAG2
* Wolff–Parkinson–White syndrome
* PRKCSH
* PRKCSH Polycystic liver disease
* XIAP
* XIAP2
See also intracellular signaling peptides and proteins
This Genodermatoses 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-aminobutyric 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
|
Watson syndrome
|
c0553586
| 26,543 |
wikipedia
|
https://en.wikipedia.org/wiki/Watson_syndrome
| 2021-01-18T19:10:48 |
{"gard": ["5540"], "mesh": ["D009456"], "umls": ["C0553586"], "icd-10": ["Q87.1"], "orphanet": ["3444"], "wikidata": ["Q1112752"]}
|
A number sign (#) is used with this entry because of evidence that premature ovarian failure-15 (POF15) is caused by homozygous mutation in the FANCM gene (609644) on chromosome 14q21. One such family has been reported.
Description
Premature ovarian failure-15 is characterized by onset of oligomenorrhea in the third decade of life, with small ovaries, reduced number of follicles, and elevated gonadotropic hormones (Fouquet et al., 2017).
For a general phenotypic description and discussion of genetic heterogeneity of premature ovarian failure, see POF1 (311360).
Clinical Features
Fouquet et al. (2017) studied 2 Finnish sisters with premature ovarian failure. The proband underwent menarche at age 12 years and had irregular menstrual cycles, ranging from 20 to 60 days. Hormonal contraception was started at age 16 for menorrhagia, and after cessation 4 years later, her menstrual cycles were even more irregular, ranging from 21 to 140 days. At age 24, she developed hot flushes and oligomenorrhea. Hormone analysis showed elevated follicle-stimulating hormone (FSH; see 136530) and low anti-mullerian hormone (AMH; 600957) levels, and she was diagnosed with primary ovarian insufficiency. The proband's sister, who also underwent menarche at age 12 years but had regular menses with 23-day cycles, developed hot flushes and oligomenorrhea at age 20. Evaluation revealed elevated FSH with low estradiol (E2) and AMH levels. She also had elevated prolactin (PRL; 176760), and brain MRI showed a suspected 3-mm pituitary adenoma that was treated with the dopamine agonist bromocriptine (Parlodel). Hormone stimulation was initiated at age 23 with poor results, but 6 months later she spontaneously conceived and ultimately gave birth to a healthy child. Both patients had normal pubic and axillary hair, breast development, and external genitalia; however, ultrasound revealed small ovaries with a reduced number of follicles. Their unaffected mother reported regular menses at age 47 years.
Molecular Genetics
In 2 Finnish sisters with POF, who were negative for mutation in the FRM1 gene (309550), Fouquet et al. (2017) performed whole-exome sequencing and identified homozygosity for a nonsense mutation in the FANCM gene (609644.0005). Their unaffected parents and brother were heterozygous for the mutation.
INHERITANCE \- Autosomal recessive CARDIOVASCULAR Vascular \- Hot flushes (in the third decade of life) GENITOURINARY Internal Genitalia (Female) \- Oligomenorrhea in third decade of life \- Small ovaries \- Reduced number of follicles ENDOCRINE FEATURES \- High follicle-stimulating hormone (FSH) levels \- Low estradiol (E2) levels \- Low anti-mullerian hormone (AMH) levels MISCELLANEOUS \- Based on report of 2 Finnish sisters (last curated August 2018) MOLECULAR BASIS \- Caused by mutation in the FANCM gene (FANCM, 609644.0005 ) ▲ 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-aminobutyric 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
|
PREMATURE OVARIAN FAILURE 15
|
None
| 26,544 |
omim
|
https://www.omim.org/entry/618096
| 2019-09-22T15:43:38 |
{"omim": ["618096"]}
|
This is a partial list of publishes a classification of known diseases and injuries, the International Statistical Classification of Diseases and Related Health Problems, or ICD-10. This list uses that classification.
## Contents
* 1 H00-H06 Disorders of eyelid, lacrimal system and orbit
* 2 H10-H13 Disorders of conjunctiva
* 3 H15-H22 Disorders of sclera, cornea, iris and ciliary body
* 4 H25-H28 Disorders of lens
* 5 H30-H36 Disorders of choroid and retina
* 5.1 H30 Chorioretinal inflammation
* 5.2 H31 Other disorders of choroid
* 5.3 H32 Chorioretinal disorders in diseases classified elsewhere
* 5.4 H33 Retinal detachments and breaks
* 5.5 H34 Retinal vascular occlusions
* 5.6 H35 Other retinal disorders
* 5.7 H36 Retinal disorders in diseases classified elsewhere
* 6 H40-H42 Glaucoma
* 7 H43-H45 Disorders of vitreous body and globe
* 8 H46-H48 Disorders of optic nerve and visual pathways
* 9 H49-H52 Disorders of ocular muscles, binocular movement, accommodation and refraction
* 10 H53-H54.9 Visual disturbances and blindness
* 11 H55-H59 Other disorders of eye and adnexa
* 12 Other codes
* 13 See also
* 14 Notes
* 15 References
## H00-H06 Disorders of eyelid, lacrimal system and orbit[edit]
* (H02.1) Ectropion
* (H02.2) Lagophthalmos
* (H02.3) Blepharochalasis
* (H02.4) Ptosis
* (H02.5) Stye, an acne type infection of the sebaceous glands on or near the eyelid.
* (H02.6) Xanthelasma of eyelid
* (H03.0*) Parasitic infestation of eyelid in diseases classified elsewhere
* Dermatitis of eyelid due to Demodex species ( B88.0+ )
* Parasitic infestation of eyelid in:
* leishmaniasis ( B55.-+ )
* loiasis ( B74.3+ )
* onchocerciasis ( B73+ )
* phthiriasis ( B85.3+ )
* (H03.1*) Involvement of eyelid in other infectious diseases classified elsewhere
* Involvement of eyelid in:
* herpesviral (herpes simplex) infection ( B00.5+ )
* leprosy ( A30.-+ )
* molluscum contagiosum ( B08.1+ )
* tuberculosis ( A18.4+ )
* yaws ( A66.-+ )
* zoster ( B02.3+ )
* (H03.8*) Involvement of eyelid in other diseases classified elsewhere
* Involvement of eyelid in impetigo ( L01.0+ )
* (H04.0) Dacryoadenitis
* (H04.2) Epiphora
* (H06.2*) Dysthyroid exophthalmos it is shown that if your eye comes out that it will shrink because the optic fluids drain out
## H10-H13 Disorders of conjunctiva[edit]
* (H10.0) Conjunctivitis – inflammation of the conjunctiva commonly due to an infection or an allergic reaction
## H15-H22 Disorders of sclera, cornea, iris and ciliary body[edit]
* (H15.0) Scleritis — a painful inflammation of the sclera
* (H16) Keratitis — inflammation of the cornea
* (H16.0) Corneal ulcer / Corneal abrasion — loss of the surface epithelial layer of the eye's cornea
* (H16.1) Snow blindness / Arc eye — a painful condition caused by exposure of unprotected eyes to bright light
* (H16.1) Thygeson's superficial punctate keratopathy
* (H16.4) Corneal neovascularization
* (H18.5) Fuchs' dystrophy — cloudy morning vision
* (H18.6) Keratoconus — degenerative disease: the cornea thins and changes shape to be more like a cone than a parabole
* (H19.3) Keratoconjunctivitis sicca — dry eyes
* (H20.0) Iritis — inflammation of the iris
* (H20.0, H44.1) Uveitis — inflammatory process involving the interior of the eye; Sympathetic ophthalmia is a subset.
## H25-H28 Disorders of lens[edit]
This section needs expansion. You can help by adding to it. (July 2010)
* (H25-H26) Cataract — the lens becomes opaque
## H30-H36 Disorders of choroid and retina[edit]
### H30 Chorioretinal inflammation[edit]
(H30) Chorioretinal inflammation
* (H30.0) Focal chorioretinal inflammation
* Focal:
* chorioretinitis
* choroiditis
* retinitis
* retinochoroiditis
* (H30.1) Disseminated chorioretinal inflammation
* Disseminated:
* chorioretinitis
* choroiditis
* retinitis
* retinochoroiditis
* Excludes: exudative retinopathy (H35.0)
* (H30.2) Posterior cyclitis
* Pars planitis
* (H30.8) Other chorioretinal inflammations
* Harada's disease
* (H30.9) Chorioretinal inflammation, unspecified
* Chorioretinitis
* Choroiditis
* Retinitis
* Retinochoroiditis[1]
### H31 Other disorders of choroid[edit]
(H31) Other disorders of choroid
* (H31.0) Chorioretinal scars
* Macula scars of posterior pole (postinflammatory) (post-traumatic)
* Solar retinopathy
* (H31.1) Choroidal degeneration
* Atrophy
* Sclerosis
* Excludes: angioid streaks (H35.3)
* (H31.2) Hereditary choroidal dystrophy
* Choroideremia
* Dystrophy, choroidal (central areolar) (generalized) (peripapillary)
* Gyrate atrophy, choroid
* Excludes: ornithinaemia ( E72.4 )
* (H31.3) Choroidal haemorrhage and rupture
* Choroidal haemorrhage:
* NOS (Not Otherwise Specified)
* expulsive
* (H31.4) Choroidal detachment
* (H31.8) Other specified disordes of choroid
* (H31.9) Disorder of choroid, unspecified [1]
### H32 Chorioretinal disorders in diseases classified elsewhere[edit]
(H32) Chorioretinal disorders in diseases classified elsewhere
* (H32.0) Chorioretinal inflammation in infectious and parasitic diseases classified elsewhere
* Chorioretinitis:
* syphilitic, late ( A52.7+ )
* toxoplasma ( B58.0+ )
* tuberculosis ( A18.5+ )
* (H32.8) Other chorioretinal disorders in diseases classified elsewhere [1]
### H33 Retinal detachments and breaks[edit]
This section needs expansion. You can help by adding to it. (July 2010)
* (H33) Retinal detachment — the retina detaches from the choroid, leading to blurred and distorted vision
* (H33.1) Retinoschisis — the retina separates into several layers and may detach
### H34 Retinal vascular occlusions[edit]
This section is empty. You can help by adding to it. (July 2010)
Retinal artery occlusion
Retinal vein occlusion
### H35 Other retinal disorders[edit]
* (H35.0) Hypertensive retinopathy — burst blood vessels, due to long-term high blood pressure
* (H35.0/E10-E14) Diabetic retinopathy — damage to the retina caused by complications of diabetes mellitus, which could eventually lead to blindness
* (H35.0-H35.2) Retinopathy — general term referring to non-inflammatory damage to the retina
* (H35.1) Retinopathy of prematurity — scarring and retinal detachment in premature babies
* (H35.3) Age-related macular degeneration — the photosensitive cells in the macula malfunction and over time cease to work
* (H35.3) Macular degeneration — loss of central vision, due to macular degeneration
* Bull's Eye Maculopathy
* (H35.3) Epiretinal membrane — a transparent layer forms and tightens over the retina
* (H35.4) Peripheral retinal degeneration
* (H35.5) Hereditary retinal dystrophy
* (H35.5) Retinitis pigmentosa — genetic disorder; tunnel vision preceded by night-blindness
* (H35.6) Retinal haemorrhage
* (H35.7) Separation of retinal layers
* Central serous retinopathy
* Retinal detachment: Detachment of retinal pigment epithelium
* (H35.8) Other specified retinal disorders
* (H35.81) Macular edema — distorted central vision, due to a swollen macula
* (H35.9) Retinal disorder, unspecified [1]
### H36 Retinal disorders in diseases classified elsewhere[edit]
* (H36.0) Diabetic retinopathy
## H40-H42 Glaucoma[edit]
This section needs expansion. You can help by adding to it. (July 2010)
* (H40-H42) Glaucoma — optic neuropathy
* (H40.0) Glaucoma suspect — ocular hypertension
* (H40.1) Primary open-angle glaucoma
* (H40.2) Primary angle-closure glaucoma
* (H40.3) Primary Normal tension glaucoma
* (H40.4) Secondary open-angle glaucoma
* (H40.5) Secondary angle-closure glaucoma
## H43-H45 Disorders of vitreous body and globe[edit]
This section needs expansion. You can help by adding to it. (July 2010)
* (H43.9) Floaters — shadow-like shapes which appear singly or together with several others in the field of vision
## H46-H48 Disorders of optic nerve and visual pathways[edit]
* (H47.2) Leber's hereditary optic neuropathy — genetic disorder; loss of central vision,.
* (H47.3) Optic disc drusen — globules progressively calcify in the optic disc, compressing the vascularization and optic nerve fibers
## H49-H52 Disorders of ocular muscles, binocular movement, accommodation and refraction[edit]
* (H49-H50) Strabismus (Crossed eye/Wandering eye/Walleye) — the eyes do not point in the same direction
* (H49.3-4) Ophthalmoparesis — the partial or total paralysis of the eye muscles
* (H49.4) Progressive external ophthaloplegia — weakness of the external eye muscles
* (H50.0, H50.3) Esotropia — the tendency for eyes to become cross-eyed
* (H50.1, H50.3) Exotropia — the tendency for eyes to look outward
* H52 Disorders of refraction and accommodation
* (H52.0) Hypermetropia (Farsightedness) — the inability to focus on near objects (and in extreme cases, any objects)
* (H52.1) Myopia (Nearsightedness) — distant objects appear blurred
* (H52.2) Astigmatism — the cornea or the lens of the eye is not perfectly spherical, resulting in different focal points in different planes
* (H52.3) Anisometropia — the lenses of the two eyes have different focal lengths
* (H52.4) Presbyopia — a condition that occurs with growing age and results in the inability to focus on close objects
* (H52.5) Disorders of accommodation
* Internal ophthalmoplegia
## H53-H54.9 Visual disturbances and blindness[edit]
* (H53.0) Amblyopia (lazy eye) — poor or blurry vision due to either no transmission or poor transmission of the visual image to the brain
* (H53.0) Leber's congenital amaurosis — genetic disorder; appears at birth, characterised by sluggish or no pupillary responses
* (H53.1, H53.4) Scotoma (blind spot) — an area impairment of vision surrounded by a field of relatively well-preserved vision. See also Anopsia.
* (H53.5) Color blindness — the inability to perceive differences between some or all colors that other people can distinguish
* (H53.5) Achromatopsia / Maskun — a low cone count or lack of function in cone cells
* (H53.6) Nyctalopia (Nightblindness) — a condition making it difficult or impossible to see in the dark
* (H54) Blindness — the brain does not receive optical information, through various causes
* (H54/B73) River blindness — blindness caused by long-term infection by a parasitic worm (rare in western societies)
* (H54.9) Micropthalmia/coloboma — a disconnection between the optic nerve and the brain and/or spinal cord
## H55-H59 Other disorders of eye and adnexa[edit]
* (H57.9) Red eye — conjunctiva appears red typically due to illness or injury
* (H58.0) Argyll Robertson pupil — small, unequal, irregularly shaped pupils
## Other codes[edit]
The following are not classified as diseases of the eye and adnexa (H00-H59) by the World Health Organization:[2]
* (B36.1) Keratomycosis — fungal infection of the cornea
* (E50.6-E50.7) Xerophthalmia — dry eyes, caused by vitamin A deficiency
* (Q13.1) Aniridia — a rare congenital eye condition leading to underdevelopment or even absence of the iris of the eye
## See also[edit]
* Endophthalmitis
* Corneal dystrophies in human
* Corrective lenses
* Fungal contamination of contact lenses
* Lists of diseases
* List of eye surgeries
* List of systemic diseases with ocular manifestations
* Ophthalmology
## Notes[edit]
Please see the References section below for the complete listing of information.
1. ^ a b c d World Health Organization ICD-10 codes: Diseases of the eye and adnexa (H00-H59). [1]. Retrieved 2010-07-28.
2. ^ International Statistical Classification of Diseases and Related Health Problems. 10th Revision. Version for 2007. [2]
## References[edit]
* WHO ICD-10 — Chapter VII Diseases of the eye and adnexa (H00-H59)
* v
* t
* e
* Diseases of the human eye
Adnexa
Eyelid
Inflammation
* Stye
* Chalazion
* Blepharitis
* Entropion
* Ectropion
* Lagophthalmos
* Blepharochalasis
* Ptosis
* Blepharophimosis
* Xanthelasma
* Ankyloblepharon
Eyelash
* Trichiasis
* Madarosis
Lacrimal apparatus
* Dacryoadenitis
* Epiphora
* Dacryocystitis
* Xerophthalmia
Orbit
* Exophthalmos
* Enophthalmos
* Orbital cellulitis
* Orbital lymphoma
* Periorbital cellulitis
Conjunctiva
* Conjunctivitis
* allergic
* Pterygium
* Pseudopterygium
* Pinguecula
* Subconjunctival hemorrhage
Globe
Fibrous tunic
Sclera
* Scleritis
* Episcleritis
Cornea
* Keratitis
* herpetic
* acanthamoebic
* fungal
* Exposure
* Photokeratitis
* Corneal ulcer
* Thygeson's superficial punctate keratopathy
* Corneal dystrophy
* Fuchs'
* Meesmann
* Corneal ectasia
* Keratoconus
* Pellucid marginal degeneration
* Keratoglobus
* Terrien's marginal degeneration
* Post-LASIK ectasia
* Keratoconjunctivitis
* sicca
* Corneal opacity
* Corneal neovascularization
* Kayser–Fleischer ring
* Haab's striae
* Arcus senilis
* Band keratopathy
Vascular tunic
* Iris
* Ciliary body
* Uveitis
* Intermediate uveitis
* Hyphema
* Rubeosis iridis
* Persistent pupillary membrane
* Iridodialysis
* Synechia
Choroid
* Choroideremia
* Choroiditis
* Chorioretinitis
Lens
* Cataract
* Congenital cataract
* Childhood cataract
* Aphakia
* Ectopia lentis
Retina
* Retinitis
* Chorioretinitis
* Cytomegalovirus retinitis
* Retinal detachment
* Retinoschisis
* Ocular ischemic syndrome / Central retinal vein occlusion
* Central retinal artery occlusion
* Branch retinal artery occlusion
* Retinopathy
* diabetic
* hypertensive
* Purtscher's
* of prematurity
* Bietti's crystalline dystrophy
* Coats' disease
* Sickle cell
* Macular degeneration
* Retinitis pigmentosa
* Retinal haemorrhage
* Central serous retinopathy
* Macular edema
* Epiretinal membrane (Macular pucker)
* Vitelliform macular dystrophy
* Leber's congenital amaurosis
* Birdshot chorioretinopathy
Other
* Glaucoma / Ocular hypertension / Primary juvenile glaucoma
* Floater
* Leber's hereditary optic neuropathy
* Red eye
* Globe rupture
* Keratomycosis
* Phthisis bulbi
* Persistent fetal vasculature / Persistent hyperplastic primary vitreous
* Persistent tunica vasculosa lentis
* Familial exudative vitreoretinopathy
Pathways
Optic nerve
Optic disc
* Optic neuritis
* optic papillitis
* Papilledema
* Foster Kennedy syndrome
* Optic atrophy
* Optic disc drusen
Optic neuropathy
* Ischemic
* anterior (AION)
* posterior (PION)
* Kjer's
* Leber's hereditary
* Toxic and nutritional
Strabismus
Extraocular muscles
Binocular vision
Accommodation
Paralytic strabismus
* Ophthalmoparesis
* Chronic progressive external ophthalmoplegia
* Kearns–Sayre syndrome
palsies
* Oculomotor (III)
* Fourth-nerve (IV)
* Sixth-nerve (VI)
Other strabismus
* Esotropia / Exotropia
* Hypertropia
* Heterophoria
* Esophoria
* Exophoria
* Cyclotropia
* Brown's syndrome
* Duane syndrome
Other binocular
* Conjugate gaze palsy
* Convergence insufficiency
* Internuclear ophthalmoplegia
* One and a half syndrome
Refraction
* Refractive error
* Hyperopia
* Myopia
* Astigmatism
* Anisometropia / Aniseikonia
* Presbyopia
Vision disorders
Blindness
* Amblyopia
* Leber's congenital amaurosis
* Diplopia
* Scotoma
* Color blindness
* Achromatopsia
* Dichromacy
* Monochromacy
* Nyctalopia
* Oguchi disease
* Blindness / Vision loss / Visual impairment
Anopsia
* Hemianopsia
* binasal
* bitemporal
* homonymous
* Quadrantanopia
subjective
* Asthenopia
* Hemeralopia
* Photophobia
* Scintillating scotoma
Pupil
* Anisocoria
* Argyll Robertson pupil
* Marcus Gunn pupil
* Adie syndrome
* Miosis
* Mydriasis
* Cycloplegia
* Parinaud's syndrome
Other
* Nystagmus
* Childhood blindness
Infections
* Trachoma
* Onchocerciasis
* v
* t
* e
Congenital malformations and deformations of eyes
Adnexa
Eyelid
* Ptosis
* Ectropion
* Entropion
* Distichia
* Blepharophimosis
* Ablepharon
* Marcus Gunn phenomenon
Lacrimal apparatus
* Congenital lacrimal duct obstruction
Globe
Entire eye
* Anophthalmia (Cystic eyeball, Cryptophthalmos)
* Microphthalmia
Lens
* Ectopia lentis
* Aphakia
Iris
* Aniridia
Anterior segment
* Axenfeld–Rieger syndrome
Cornea
* Keratoglobus
* Megalocornea
Other
* Buphthalmos
* Coloboma (Coloboma of optic nerve)
* Hydrophthalmos
* Norrie disease
* Medicine portal
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-aminobutyric 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
|
Eye disease
|
c0015397
| 26,545 |
wikipedia
|
https://en.wikipedia.org/wiki/Eye_disease
| 2021-01-18T18:29:55 |
{"mesh": ["D005128"], "umls": ["C0015397"], "wikidata": ["Q3041498"]}
|
## Description
Age at menarche is a marker of timing of puberty in females. It varies widely between individuals and is a heritable trait (summary by Perry et al., 2014).
### Genetic Heterogeneity of Age at Menarche
Age at menarche has been associated with variation on chromosome 22q13. Other quantitative trait loci (QTLs) associated with age at menarche include MENAQ2 (612882) on chromosome 6q21 and MENAQ3 (612883) on chromosome 9q31.
Mapping
### MENAQ1
Age at menarche, an important anthropologic variable with major implications for a woman's health later in life, is influenced by genetic contributions. Guo et al. (2006) performed a large-scale genomewide linkage scan in 2,461 Caucasian women from 402 pedigrees to identify quantitative trait loci underlying variations in age at menarche. All subjects were genotyped with 410 microsatellite markers spaced approximately 8.9 cM apart across the human genome. The strongest linkage signal was obtained at the genomic region of 22q13, with a lod score of 3.70 obtained at marker UT7136. The other 2 suggestive linkages were on 22q11 (lod = 2.68 at marker AGAT120) and 11q23 (lod = 1.98 between markers GATA23E06 and GATA64D03), respectively. Guo et al. (2006) also detected significant epistatic interaction between genomic regions 22q13 and 3q13.
### Associations Pending Confirmation
Perry et al. (2014) performed a metaanalysis using genomewide and custom-genotyping arrays in up to 182,416 women of European descent from 57 studies, and found robust evidence (p less than 5 x 10(-8)) for 123 signals at 106 genomic loci associated with age at menarche. Many loci were associated with other pubertal traits in both sexes, and there was substantial overlap with genes implicated in body mass index (BMI) and various diseases, including rare disorders of puberty. Menarche signals were enriched in imprinted regions, with 3 loci demonstrating parent-of-origin-specific associations concordant with known parental expression patterns. These loci were DLK1 (176290)-WDR25 on chromosome 14q32, MKRN3 (603856)-MAGEL2 (605283) on chromosome 15q11, and KCNK9 (605874) on chromosome 8q24. Pathway analyses implicated nuclear hormone receptors, particularly retinoic acid and gamma-aminobutyric acid-B2 receptor signaling, among novel mechanisms that regulate pubertal timing in humans. Perry et al. (2014) concluded that their findings suggested a genetic architecture involving at least hundreds of common variants in the coordinated timing of the pubertal transition.
*[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-aminobutyric 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
|
MENARCHE, AGE AT, QUANTITATIVE TRAIT LOCUS 1
|
c1970484
| 26,546 |
omim
|
https://www.omim.org/entry/610873
| 2019-09-22T16:03:57 |
{"omim": ["610873"]}
|
Osteitis fibrosa cystica
Osteitis fibrosa cystica of the tibia. Arrows point to the brown tumors which are typically present in bones of people with OFC.
SpecialtyEndocrinology
Symptomsbone pain or tenderness, bone fractures, and skeletal deformities
Causeshyperparathyroidism
Osteitis fibrosa cystica (/ˌɒstiˈaɪtɪs faɪˈbroʊsə ˈsɪstɪkə/ OS-tee-AY-tis fy-BROH-sə SIS-tik-ə), is a skeletal disorder resulting in a loss of bone mass, a weakening of the bones as their calcified supporting structures are replaced with fibrous tissue (peritrabecular fibrosis), and the formation of cyst-like brown tumors in and around the bone. Osteitis fibrosis cystica, abbreviated OFC, also known as osteitis fibrosa, osteodystrophia fibrosa, and von Recklinghausen's disease of bone (not to be confused with von Recklinghausen's disease, neurofibromatosis type I), is caused by hyperparathyroidism, which is a surplus of parathyroid hormone from over-active parathyroid glands. This surplus stimulates the activity of osteoclasts, cells that break down bone, in a process known as osteoclastic bone resorption. The hyperparathyroidism can be triggered by a parathyroid adenoma, hereditary factors, parathyroid carcinoma, or renal osteodystrophy. Osteoclastic bone resorption releases minerals, including calcium, from the bone into the bloodstream, causing both elevated blood calcium levels, and the structural changes which weaken the bone. The symptoms of the disease are the consequences of both the general softening of the bones and the excess calcium in the blood, and include bone fractures, kidney stones, nausea, moth-eaten appearance in the bones, appetite loss, and weight loss.
First described in the nineteenth century, OFC is currently detected through a combination of blood testing, X-rays, and tissue sampling. Before 1950, around half of those diagnosed with hyperparathyroidism in the United States saw it progress to OFC, but with early identification techniques and improved treatment methods, instances of OFC in developed countries are increasingly rare. Where treatment is required, it normally involves addressing the underlying hyperparathyroidism before commencing long-term treatment for OFC—depending on its cause and severity, this can range from hydration and exercise to surgical intervention.
## Contents
* 1 Classification
* 2 Signs and symptoms
* 3 Causes
* 4 Pathophysiology
* 5 Diagnosis
* 6 Management
* 6.1 Medical
* 6.2 Surgery
* 7 Prognosis
* 8 Epidemiology
* 9 History
* 10 References
* 11 Bibliography
* 12 External links
## Classification[edit]
Osteitis fibrosa cystica is defined as the classic skeletal manifestation of advanced hyperparathyroidism. Under the ICD-10 classification system, established by the World Health Organization, OFC is listed under category E21.0, primary hyperparathyroidism.[1]
## Signs and symptoms[edit]
The major symptoms of OFC are bone pain or tenderness, bone fractures, and skeletal deformities such as bowing of the bones. The underlying hyperparathyroidism may cause kidney stones, nausea, constipation, fatigue and weakness. X-rays may indicate thin bones, fractures, bowing, and cysts. Fractures are most commonly localized in the arms, legs, or spine.[2][3]
The addition of weight loss, appetite loss, vomiting, polyuria, and polydipsia to the aforementioned symptoms may indicate that OFC is the result of parathyroid carcinoma.[4] Parathyroid carcinoma, an uncommon cancer of the parathyroid glands, is generally indicated by serum calcium levels higher than usual, even in comparison to the high serum calcium levels that OFC generally presents with. Symptoms are also often more severe.[5] Generally, the presence of a palpable neck mass is also indicative of the cancer, occurring in approximately 50% of sufferers, but virtually nonexistent in individuals with OFC with a different origin.[6]
## Causes[edit]
Diagram showing position of the parathyroid glands beside the thyroid
Osteitis fibrosa cystica is the result of unchecked hyperparathyroidism, or the overactivity of the parathyroid glands, which results in an overproduction of parathyroid hormone (PTH). PTH causes the release of calcium from the bones into the blood, and the reabsorption of calcium in the kidney. Thus, excess PTH in hyperparathyroidism causes elevated blood calcium levels, or hypercalcemia.[7] There are four major causes of primary hyperparathyroidism that result in OFC:
* Parathyroid adenoma
The vast majority of cases of hyperparathyroidism are the result of the random formation of benign, but metabolically active, parathyroid adenoma swellings. These instances comprise approximately 80–85% of all documented cases of hyperparathyroidism.[8]
* Hereditary factors
Approximately 1 in 10 documented cases of hyperparathyroidism are a result of hereditary factors. Disorders such as familial hyperparathyroidism, multiple endocrine neoplasia type 1 (MEN Type 1) and hyperparathyroidism-jaw tumor syndrome can, if left unchecked, result in OFC.[8] MEN Type 1 is an autosomal dominant disorder and the most common hereditary form of hyperparathyroidism, affecting about 95% of genetic cases of OFC, and also tends to affect younger patients than other forms. Major mutations which can lead to hyperparathyroidism generally involve the parathyroid hormone receptor, G proteins, or adenylate cyclase.[9][10] Certain genetic mutations have been linked to a higher rate of parathyroid carcinoma occurrence, specifically mutations to the gene HRPT2, which codes for the protein parafibromin.[11]
* Parathyroid carcinoma
Parathyroid carcinoma (cancer of the parathyroid gland) is the rarest cause of OFC, accounting for about 0.5% of all cases of hyperparathyroidism. OFC onset by parathyroid carcinoma is difficult to diagnose.[8]
* Renal complications
OFC is a common presentation of renal osteodystrophy, which is a term used to refer to the skeletal complications of end stage renal disease (ESRD). OFC occurs in approximately 50% of patients with ESRD.[12] ESRD occurs when the kidneys fail to produce calcitriol, a form of Vitamin D, which assists in the absorption of calcium into the bones. When calcitriol levels decrease, parathyroid hormone levels increase, halting the storage of calcium, and instead triggering its removal from the bones.[13] The concept of renal osteodystrophy is currently included into the broader term chronic kidney disease-mineral and bone disorder (CKD-MBD).[14]
* Fluoride intoxication
OFC was noticed in the early years of community fluoridation to be at higher risk when water supplies were fluoridated. Indeed, death rates which in some cases were gruesomely dramatic during dialysis quickly brought attention to the fact that fluoride in water during dialysis was a health hazard. Modern dialysis takes pains to de-fluoridate water in order to minimize bone disease including OFC. The 2006 National Research Council confirmed kidney patients are a sub-population particularly susceptible to ill effects from fluoride exposure which manifest in bones. [15] [16] [17]
fanconi syndrome, : decrease aminoacids, phosphate, glucose, bicarbonate and potasum salts.
## Pathophysiology[edit]
The effects of OFC on bone are largely dependent on the duration of the disease and the level of parathyroid hormone (PTH) produced.[18] PTH is responsible for maintaining a homeostatic calcium concentration in the blood. It activates the parathyroid-hormone related protein receptor located on osteoclasts and osteocytes, both of which are responsible for the breakdown and maintaining of bone. Abnormalities affecting the parathyroid glands cause a surplus of PTH, which, in turn, increases the activity and frequency of osteoclasts and osteocytes.[19] Increased PTH levels trigger the release of stored calcium through the dissolution of old bone, as well as the conservation of serum calcium through a cessation in the production of new bone.[20][21]
Generally, the first bones to be affected are the fingers, facial bones, ribs, and pelvis.[22][23] Long bones, which are longer than they are wide, are also among the first affected.[23] As the disease progresses, any bone may be affected.[18]
X-ray of the hands showing brown tumors in the long bones of the fingers
## Diagnosis[edit]
OFC may be diagnosed using a variety of techniques. Muscles in patients afflicted with OFC can either appear unaffected or "bulked up." If muscular symptoms appear upon the onset of hyperparathyroidism, they are generally sluggish contraction and relaxation of the muscles.[24] Deviation of the trachea (a condition in which the trachea shifts from its position at the midline of the neck), in conjunction with other known symptoms of OFC can point to a diagnosis of parathyroid carcinoma.[23]
Blood tests on patients with OFC generally show high levels of calcium (normal levels are considered to range between 8.5 and 10.2 mg/dL,[25] parathyroid hormone (levels generally above 250 pg/mL, as opposed to the "normal" upper-range value of 65 pg/mL[26]),[27] and alkaline phosphatase[2](normal range is 20 to 140 IU/L[28]).
X-rays may also be used to diagnose the disease. Usually, these X-rays will show extremely thin bones, which are often bowed or fractured. However, such symptoms are also associated with other bone diseases, such as osteopenia or osteoporosis.[29] Generally, the first bones to show symptoms via X-ray are the fingers.[22] Furthermore, brown tumors, especially when manifested on facial bones, can be misdiagnosed as cancerous.[29] Radiographs distinctly show bone resorption and X-rays of the skull may depict an image often described as "ground glass" or "salt and pepper".[30][31] Dental X-rays may also be abnormal.[2]
Histology of bone showing osteitis fibrosa cystica. (Fibrosis and intratrabecular tunnels are seen).
Cysts may be lined by osteoclasts and sometimes blood pigments, which lend to the notion of "brown tumors." Such cysts can be identified with nuclear imaging combined with specific tracers, such as sestamibi.[3] Identification of muscular degeneration or lack of reflex can occur through clinical testing of deep tendon reflexes, or via photomotogram (an achilles tendon reflex test).[24][32]
Fine needle aspiration (FNA) can be used to biopsy bone lesions, once found on an X-ray or other scan. Such tests can be vital in diagnosis and can also prevent unnecessary treatment and invasive surgery.[33] Conversely, FNA biopsy of tumors of the parathyroid gland is not recommended for diagnosing parathyroid carcinoma and may in fact be harmful, as the needle can puncture the tumor, leading to dissemination and the possible spread of cancerous cells.[34]
The brown tumors commonly associated with OFC display many of the same characteristics of osteoclasts.[23] These cells are characteristically benign, feature a dense, granular cytoplasm, and a nucleus that tends to be ovular in shape, enclosing comparatively fine chromatin. Nucleoli also tend to be smaller than average.[18]
Comparison of bone pathology
* view
* talk
* edit
Condition Calcium Phosphate Alkaline phosphatase Parathyroid hormone Comments
Osteopenia unaffected unaffected normal unaffected decreased bone mass
Osteopetrosis unaffected unaffected elevated unaffected[citation needed] thick dense bones also known as marble bone
Osteomalacia and rickets decreased decreased elevated elevated soft bones
Osteitis fibrosa cystica elevated decreased elevated elevated brown tumors
Paget's disease of bone unaffected unaffected variable (depending on stage of disease) unaffected abnormal bone architecture
## Management[edit]
### Medical[edit]
Medical management of OFC consists of Vitamin D treatment, generally alfacalcidol or calcitriol, delivered intravenously. Studies have shown that in cases of OFC caused by either end-stage renal disease or primary hyperparathyoidism, this method is successful not only in treating underlying hyperparathyoidism, but also in causing the regression of brown tumors and other symptoms of OFC.[35]
### Surgery[edit]
In especially severe cases of OFC, parathyroidectomy, or the full removal of the parathyroid glands, is the chosen route of treatment. Parathyroidectomy has been shown to result in the reversal of bone resorption and the complete regression of brown tumors.[35] In situations where parathyroid carcinoma is present, surgery to remove the tumors has also led to the regression of hyperparathyroidism as well as the symptoms of OFC.[36]
Bone transplants have proven successful in filling the lesions caused by OFC. A report showed that in 8 out of 11 instances where cavities caused by OFC were filled with transplanted bone, the lesion healed and the transplanted bone blended rapidly and seamlessly with the original bone.[37]
## Prognosis[edit]
Almost all who undergo parathyroidectomy experience increased bone density and repair of the skeleton within weeks. Additionally, patients with OFC who have undergone parathyroidectomy begin to show regression of brown tumors within six months.[38][39] Following parathyroidectomy, hypocalcaemia is common. This results from a combination of suppressed parathyroid glands due to prolonged hypercalcaemia, as well as the need for calcium and phosphate in the mineralization of new bone.[40]
Thirty percent of patients with OFC-like tumors caused by metastatic parathyroid carcinoma who undergo surgery see a local recurrence of symptoms. The post-surgical survival rate hovers around seven years, while patients who do not undergo surgery have a survival rate of around five years.[23]
## Epidemiology[edit]
Osteitis fibrosa cystica has long been a rare disease.[41] Today, it appears in only 2% of individuals diagnosed with primary hyperparathyroidism, which accounts for 90% of instances of the disease.[23] Primary hyperparathyroidism is three times as common in individuals with diabetes mellitus.[42]
The hospitalization rate for hyperparathyroidism in the United States in 1999 was 8.0 out of 100,000.[43] The disease has a definite tendency to affect younger individuals, typically appearing before the age of 40, with a study in 1922 reporting that 70% of cases display symptoms before the age of 20, and 85% before 35.[44] Primary hyperparathyoidism, as well as OFC, is more common in Asiatic countries.[22] Before treatment for hyperparathyroidism improved in the 1950s, half of those diagnosed with hyperparathyroidism saw it progress into OFC.[2]
Rates of OFC increase alongside cases of unchecked primary hyperparathyroidism. In developing countries, such as India, rates of disease as well as case reports often mirror those published in past decades in the developed world.[45][46]
The other 10% of cases are primarily caused by primary hyperplasia, or an increase of the number of cells. Parathyroid carcinoma accounts for less than 1% of all cases,[23] occurring most frequently in individuals around 50 years of age (in stark contrast to OFC as a result of primary hyperparathyroidism) and showing no gender preference.[23] Approximately 95% of hyperparatyhroidism caused by genetic factors is attributed to MEN type 1. This mutation also tends to affect younger individuals.[8]
## History[edit]
Friedrich Daniel von Recklinghausen, who is credited, along with Gerhard Engel, in naming OFC
The condition was first described by Gerhard Engel in 1864 and Friedrich Daniel von Recklinghausen in 1890, though William Hunter, who died in 1783, is credited with finding the first example of the disease.[47][48] "von Recklinghausen's disease" (without the qualification "of bone") is a completely unrelated disorder, nowadays termed neurofibromatosis.[7] In 1884, Davies Colley delivered a presentation to the Pathological Society of London that detailed the manifestation of hyperparathyroidism into a brown tumor of the mandible, as well as the histological makeup of the tumor.[49]
The discovery and subsequent description of the parathyroid glands is credited to Ivar Sandstrom, though his publication, On a New Gland in Man and Several Mammals-Glandulae Parathyroideae, received little attention. Gustaf Retzius and Eugene Gley compounded his research, the latter credited with the discovery of the function of the parathyroid glands.[49] This research cumulated in the first surgical removal of a parathyroid tumor by Felix Mandel in 1925. A 2.5 × 1.5-inch (64 × 38 mm) tumor was removed from the thyroid artery of a man suffering from advanced OFC. The patient's symptoms disappeared, only to return in approximately six years as a result of renal stones that were diagnosed only after the patient had died. In 1932, blood tests on a female patient suffering from renal stone-based OFC revealed extremely high blood calcium levels. Fuller Albright diagnosed and treated the woman, who suffered from a large tumor of the neck as well as renal stones.[7]
The first published literature to describe a brown tumor (which was linked to OFC) was published in 1953, though clinical reports from before 1953 do draw a correlation between the disease and tumors previous to the publication.[50]
The advent of the multichannel autoanalyzer in the 1960s and 70s led to an increase in early diagnosis of primary hyperparathyroidism. This increase led to a sharp decline in the prolonged manifestation of the disease, leading to a drop in the number of cases of OFC due to the early detection of hyperparathyroidism.[51] Before this invention, the diagnosis of primary hyperparathyroidism was generally prolonged until the emergence of severe manifestations, such as OFC.[52]
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22. ^ a b c Salerno, G.; Gilbert, J.; Sharif, H. (2002). "Bilateral knee pain with hyperparathyroidism". Journal of the Royal Society of Medicine. 95 (3): 134–6. doi:10.1258/jrsm.95.3.134. PMC 1279482. PMID 11872764.
23. ^ a b c d e f g h Gupta, Anju; Horattas, Mark C.; Moattari, Ali Reza; Shorten, Scott D. (October 2001). "Disseminated Brown Tumors from Hyperparathyroidism Masquerading as Metastatic Cancer: A Complication of Parathyroid Carcinoma". The American Surgeon. 67 (10): 951–5. PMID 11603552.
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28. ^ "ALP isoenzyme test". MedlinePlus. U.S. National Library of Medicine. 2009-05-07. Archived from the original on 2009-10-20. Retrieved 2009-10-26.
29. ^ a b Reséndiz-Colosia, Jaime Alonso; Rodríguez-Cuevas, Sergio Arturo; Flores-Díaz, Rutilio; Juan, Martín Hernández-San; Gallegos-Hernández, José Francisco; Barroso-Bravo, Sinhué; Gómez-Acosta, Fernando (2008). "Evolution of maxillofacial brown tumors after parathyroidectomy in primary hyperparathyroidism". Head & Neck. 30 (11): 1497–504. doi:10.1002/hed.20905. PMID 18704965.
30. ^ "Association of Level Oo GFR with Bone Disease And Disorders of Calcium And Phosphorus Metabolism". NKF K/DOQI Guidelines. National Kidney Foundation. 2002. Archived from the original on 2008-10-13. Retrieved 2008-11-17.
31. ^ Hurd, Robert (2006-08-11). "Osteitis fibrosa". UCLA Health. UCLA. Archived from the original on 2011-07-19. Retrieved 2008-10-22.
32. ^ "Photomotogram (achilles reflex test)". The Western Journal of Medicine. 127 (2): 177. 1977. PMC 1237752. PMID 18748025.
33. ^ Kemp, Anna M. Collins; Bukvic, Meliha; Sturgis, Charles D. (2008). "Fine Needle Aspiration Diagnosis of Osteitis Fibrosa Cystica (Brown Tumor of Bone)". Acta Cytologica. 52 (4): 471–4. doi:10.1159/000325556. PMID 18702368. S2CID 3349587.
34. ^ Kim, Lawrence (2006-06-05). "Parathyroid Carcinoma: Differential Diagnoses & Workup". eMedicine. Archived from the original on 2009-05-27. Retrieved 2009-01-28.
35. ^ a b Arabi, A. (2006). "Regression of Skeletal Manifestations of Hyperparathyroidism with Oral Vitamin D". Journal of Clinical Endocrinology & Metabolism. 91 (7): 2480–3. doi:10.1210/jc.2005-2518. PMID 16608887.
36. ^ Ellis, H. A.; Floyd, M.; Herbert, F. K. (1971). "Recurrent hyperparathyroidism due to parathyroid carcinoma". Journal of Clinical Pathology. 24 (7): 596–604. doi:10.1136/jcp.24.7.596. PMC 477103. PMID 4107487.
37. ^ Brand, Richard A. (2008). "Follow-Up Study of the Use of Refrigerated Homogenous Bone Transplants in Orthopaedic Operations". Clinical Orthopaedics and Related Research. 466 (1): 22–36. doi:10.1007/s11999-007-0030-5. PMC 2505281. PMID 18196370.
38. ^ Silverberg, Shonni J.; Shane, Elizabeth; Jacobs, Thomas P.; Siris, Ethel; Bilezikian, John P. (1999). "A 10-Year Prospective Study of Primary Hyperparathyroidism with or without Parathyroid Surgery". New England Journal of Medicine. 341 (17): 1249–55. doi:10.1056/NEJM199910213411701. PMID 10528034.
39. ^ Agarwal, Gaurav; Mishra, Saroj K; Kar, Dilip K; Singh, Anil K; Arya, Vivek; Gupta, Sushil K; Mithal, Ambrish (2002). "Recovery pattern of patients with osteitis fibrosa cystica in primary hyperparathyroidism after successful parathyroidectomy". Surgery. 132 (6): 1075–85. doi:10.1067/msy.2002.128484. PMID 12490858.
40. ^ Gibbs, C. J.; Millar, J. G.; Smith, J. (1996). "Spontaneous healing of osteitis fibrosa cystica in primary hyperparathyroidism". Postgraduate Medical Journal. 72 (854): 754–7. doi:10.1136/pgmj.72.854.754. PMC 2398661. PMID 9015472.
41. ^ Coley, Bradley L.; Higibotham, Norman L. (1934). "Solitary Bone Cyst". Annals of Surgery. 99 (3): 432–48. doi:10.1097/00000658-193403000-00003. PMC 1390041. PMID 17867151.
42. ^ Gulcelik, Nese Ersoz; Bozkurt, Fani; Tezel, Gaye Güler; Kaynaroglu, Volkan; Erbas, Tomris (2008). "Normal parathyroid hormone levels in a diabetic patient with parathyroid adenoma". Endocrine. 35 (2): 147–50. doi:10.1007/s12020-008-9135-1. PMID 19116787. S2CID 32981321.
43. ^ Melton Lj, 3rd (2002). "The epidemiology of primary hyperparathyroidism in North America". Journal of Bone and Mineral Research. 17 Suppl 2: N12–7. PMID 12412772.
44. ^ Stevens 1922, p. 881
45. ^ Mishra, S. K.; Agarwal, G.; Kar, D. K.; Gupta, S. K.; Mithal, A.; Rastad, J. (2001). "Unique clinical characteristics of primary hyperparathyroidism in India". British Journal of Surgery. 88 (5): 708–14. doi:10.1046/j.0007-1323.2001.01775.x. PMID 11350446. S2CID 25852901.
46. ^ Agarwal, Gaurav; Mishra, Saroj K; Kar, Dilip K; Singh, Anil K; Arya, Vivek; Gupta, Sushil K; Mithal, Ambrish (2002). "Recovery pattern of patients with osteitis fibrosa cystica in primary hyperparathyroidism after successful parathyroidectomy". Surgery. 132 (6): 1075–83, discussion 1083–5. doi:10.1067/msy.2002.128484. PMID 12490858.
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51. ^ Levine 2001, p. 350 harvnb error: no target: CITEREFLevine2001 (help)
52. ^ Levine 2001, p. 403 harvnb error: no target: CITEREFLevine2001 (help)
## Bibliography[edit]
* Campbell, Neil (1987). Biology. Menlo Park, Calif: Benjamin/Cummings Pub. Co. ISBN 978-0-8053-1840-1.
* Eberstein, Arthur; Goodgold, Joseph (1983). Electrodiagnosis of Neuromuscular Diseases. Baltimore: Williams & Wilkins. ISBN 978-0-683-03686-2.
* Ellis, Harold (2002). A History of Surgery. London: Greenwich Medical Media. p. 210. ISBN 978-1-84110-181-1.
* Hricik, Donald; R. Tyler Miller; John R. Sedor (2003). Nephrology Secrets. Hanley & Belfus. p. 175. ISBN 978-1-56053-502-7.
* Levine, Michael W.; Bilezikian, John P.; Marcus, Robert (2001). The Parathyroids: Basic and Clinical Concepts. Boston: Academic Press. ISBN 978-0-12-098651-4.
* Stevens, Arthur (1922). "The Practice of Medicine". W. B. Saunders Co. Cite journal requires `|journal=` (help)
* Patton, Kevin T.; Thibodeau, Gary A. (1996). Anthony's Textbook of Anatomy & Physiology. St. Louis: Mosby. ISBN 978-0-8151-8861-2.
## External links[edit]
Classification
D
* ICD-10: E21.0
* ICD-9-CM: 252.01
* OMIM: 603233
* MeSH: D010002
* DiseasesDB: 30721
External resources
* MedlinePlus: 001252
* v
* t
* e
Parathyroid disease
Hypoparathyroidism
* Pseudohypoparathyroidism
* Pseudopseudohypoparathyroidism
Hyperparathyroidism
* Primary
* Secondary
* Tertiary
* Osteitis fibrosa cystica
Other
* Parathyroiditis
* v
* t
* e
Bone and joint disease
Bone
Inflammation
endocrine:
* Osteitis fibrosa cystica
* Brown tumor
infection:
* Osteomyelitis
* Sequestrum
* Involucrum
* Sesamoiditis
* Brodie abscess
* Periostitis
* Vertebral osteomyelitis
Metabolic
* Bone density
* Osteoporosis
* Juvenile
* Osteopenia
* Osteomalacia
* Paget's disease of bone
* Hypophosphatasia
Bone resorption
* Osteolysis
* Hajdu–Cheney syndrome
* Ainhum
* Gorham's disease
Other
* Ischaemia
* Avascular necrosis
* Osteonecrosis of the jaw
* Complex regional pain syndrome
* Hypertrophic pulmonary osteoarthropathy
* Nonossifying fibroma
* Pseudarthrosis
* Stress fracture
* Fibrous dysplasia
* Monostotic
* Polyostotic
* Skeletal fluorosis
* bone cyst
* Aneurysmal bone cyst
* Hyperostosis
* Infantile cortical hyperostosis
* Osteosclerosis
* Melorheostosis
* Pycnodysostosis
Joint
Chondritis
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Other
* Tietze's syndrome
Combined
Osteochondritis
* Osteochondritis dissecans
Child
leg:
* hip
* Legg–Calvé–Perthes syndrome
* tibia
* Osgood–Schlatter disease
* Blount's disease
* foot
* Köhler disease
* Sever's disease
spine
* * Scheuermann's_disease
arm:
* wrist
* Kienböck's disease
* elbow
* Panner 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-aminobutyric 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
|
Osteitis fibrosa cystica
|
c0029405
| 26,547 |
wikipedia
|
https://en.wikipedia.org/wiki/Osteitis_fibrosa_cystica
| 2021-01-18T19:10:06 |
{"mesh": ["D010002"], "umls": ["C0029405"], "icd-9": ["252.01"], "icd-10": ["E21.0"], "wikidata": ["Q799615"]}
|
A rare, genetic, non-dystrophic myopathy disease characterized by childhood-onset severe external ophthalmoplegia, typically without ptosis, associated with mild, very slowly progressive muscular weakness and atrophy, involving the facial, neck flexor and limb (upper > lower, proximal > distal) muscles. Muscle biopsy shows type 1 fiber uniformity, absent, or abnormally small, type 2A fibers, increased variability of fiber size, internalized nuclei and/or fatty infiltration.
*[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-aminobutyric 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
|
Childhood-onset autosomal recessive myopathy with external ophthalmoplegia
|
c1854106
| 26,548 |
orphanet
|
https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=363677
| 2021-01-23T18:01:24 |
{"mesh": ["C565311"], "omim": ["605637"], "icd-10": ["G71.2"]}
|
## Clinical Features
Yates et al. (1988) studied 2 brothers with microcephaly who developed malignancies in early childhood. The first died at 15 months with 2 primary tumors: embryonal rhabdomyosarcoma of the ear and retroperitoneal ganglioneuroblastoma. The second, investigated for hypotonia and developmental delay, showed chromosome instability and greatly elevated serum AFP (104150); at 12 months, nephrectomy was performed for nephroblastoma. Profound neutropenia signaled abnormal sensitivity to chemotherapy. Cultured lymphocytes showed a marked excess of chromatid gaps and breaks after X-irradiation, whereas fibroblasts showed normal radiosensitivity. Similar studies in the parents were normal.
HEENT \- Microcephaly Misc \- Multiple primary tumors \- Abnormal sensitivity to chemotherapy Lab \- Chromosome instability \- Profound neutropenia during chemotherapy \- Excess chromatid gaps and breaks after X-irradiation of cultured lymphocytes \- Normal radiosensitivity of fibroblasts Neuro \- Hypotonia \- Developmental delay Inheritance \- Autosomal recessive ▲ Close
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-aminobutyric 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
|
CHROMOSOMAL INSTABILITY WITH TISSUE-SPECIFIC RADIOSENSITIVITY
|
c1859091
| 26,549 |
omim
|
https://www.omim.org/entry/215510
| 2019-09-22T16:29:39 |
{"mesh": ["C565848"], "omim": ["215510"]}
|
This article includes a list of references, related reading or external links, but its sources remain unclear because it lacks inline citations. Please help to improve this article by introducing more precise citations. (February 2015) (Learn how and when to remove this template message)
Knee effusion
Other namesSwelling of the knee, water on the knee
Traumatic effusion of the right knee, with swelling lateral to the kneecap marked by an arrow
Knee effusion occurs when excess synovial fluid accumulates in or around the knee joint. It has many common causes, including arthritis, injury to the ligaments or meniscus, or fluid collecting in the bursa, a condition known as prepatellar bursitis.
## Contents
* 1 Signs and symptoms
* 1.1 Pain
* 1.2 Swelling
* 1.3 Stiffness
* 1.4 Bruising
* 2 Causes
* 3 Diagnosis
* 3.1 Joint aspiration
* 3.2 Imaging
* 3.3 MRI
* 3.4 Blood tests
* 4 Treatment
* 5 References
* 6 External links
## Signs and symptoms[edit]
Signs and symptoms of water on the knee depend on the cause of excess synovial fluid build-up in the knee joint. These may include:
### Pain[edit]
Osteoarthritis knee pain usually occurs while the joint is bearing weight, so the pain typically subsides with rest; some patients suffer severe pain, while others report no discomfort. Even if one knee is much larger than the other, pain is not guaranteed.
### Swelling[edit]
One knee may appear larger than the other. Puffiness around the bony parts of the knee appear prominent when compared with the other knee.
### Stiffness[edit]
When the knee joint contains excess fluid, it may become difficult or painful to bend or straighten. Fluid may also show under the knee when straightened. Icing may help to decrease swelling. Heat may help relax the muscles of the knee.
### Bruising[edit]
If an individual has injured their knee, they may note bruising on the front, sides or rear of the knee. Bearing weight on the knee joint may be impossible and the pain unbearable. Bruising may be seen as bluish lesion.
## Causes[edit]
Causes of the swelling can include arthritis, injury to the ligaments of the knee, or an accident after which the body's natural reaction is to surround the knee with a protective fluid. There could also be an underlying disease or condition. The type of fluid that accumulates around the knee depends on the underlying disease, condition or type of traumatic injury that caused the excess fluid. The swelling can, in most cases, be easily cured.
Underlying diseases may include
* Knee osteoarthritis
* Rheumatoid arthritis
* Infection
* Gout
* Pseudogout
* Prepatellar bursitis (kneecap bursitis)
* Cysts
* Tumours
* Repetitive strain injury
Having osteoarthritis or engaging in high-risk sports that involve rapid cut-and-run movements of the knee — football or tennis, for example — means an individual is more likely to develop water on the knee.
In overweight or obese individuals the body places more weight on the knee joint. This causes more wear in the joint. Over time, the body may produce excess joint fluid.
## Diagnosis[edit]
Skyline view of the patella demonstrating a large joint effusion as marked by the arrow
Diagnostic tests include:
### Joint aspiration[edit]
Also known as arthrocentesis, this procedure includes withdrawal of fluid from inside the knee for analysis such as cell count, culture for bacteria, and examination for crystals, such as uric acid or calcium pyrophosphate dihydrate ram crystals found in gout or pseudogout.
### Imaging[edit]
X-ray of the knee of a 12 year old male, showing knee effusion of medium severity, marked by black arrows. It displaces the patella anteriorly and extends into the suprapatellar bursa.
An X-ray is useful to verify that there is no break or dislocation when there is a history of trauma. May show signs of osteoarthritis.
### MRI[edit]
Magnetic Resonance Imaging detects abnormalities of the bone or knee joint, such as a tear in the ligaments, tendons or cartilage.
### Blood tests[edit]
If the knee is swollen and red and warm to the touch when compared to the other knee, a doctor may be concerned about inflammation due to rheumatoid arthritis or a crystalline arthritis, such as gout or pseudogout, or joint infection. Besides sending the joint fluid to a laboratory for analysis, blood tests may requested to determine a white blood cell count, erythrocyte sedimentation rate, and perhaps the level of C-reactive protein or uric acid. If blood tests reveal Lyme disease antibodies forming, the condition may be attributed to it.
## Treatment[edit]
Treatment of fluid in the knee depends on the underlying cause of the swelling. General measures such as rest, ice, and analgesics such as acetaminophen (paracetamol) and NSAIDS are often recommended. Chymotrypsin, trypsin and Diclofenac are also recommended.
## References[edit]
Mayo Clinic - Water on the Knee
## External links[edit]
Classification
D
* ICD-10: M25.4
* ICD-9-CM: 719.0
* DiseasesDB: 15237
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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-aminobutyric 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
|
Knee effusion
|
c0343166
| 26,550 |
wikipedia
|
https://en.wikipedia.org/wiki/Knee_effusion
| 2021-01-18T19:09:43 |
{"wikidata": ["Q17145102"]}
|
Phossy jaw
A match factory worker with phossy jaw
Phossy jaw, formally known as phosphorus necrosis of the jaw, was an occupational disease affecting those who worked with white phosphorus (also known as yellow phosphorus) without proper safeguards. It was most commonly seen in workers in the matchstick industry in the 19th and early 20th centuries.[1] It was caused by white phosphorus vapour, which destroys the bones of the jaw. Modern occupational hygiene practices have since eliminated the working conditions that caused this disease.[1]
## Contents
* 1 Symptoms
* 2 Treatment
* 3 Diagnostic imaging
* 4 History
* 4.1 Discovery
* 4.2 International and national legislation and public organisations
* 4.2.1 Europe
* 4.2.2 United States
* 4.2.3 Asia
* 5 Match industry
* 6 Mechanism of action of white phosphorus
* 7 Links to bisphosphonates
* 8 See also
* 9 References
## Symptoms[edit]
Those with phossy jaw would usually begin suffering painful toothaches and swelling of the gums. The pain was characterized as "persistent yet progressive ... spreading to neighboring teeth and jawbone".[2] Over time, pus formation developed penetrating the oral mucosa with the formation of fistula, teeth loss, and recurrent abscesses.[2] Further progression led to the formation of sequestrum (dead bone that has separated from living bone) after three months and necrosis of the jaw within six months.[2] The distinguishing feature of this disease was the eventual separation of the sequestrum which was described as porous and light in weight.[1][3] The lower jaw was more commonly affected than the upper jaw.[3] Affected bones glowed a greenish-white colour in the dark.[4][5] The condition also affected the brain, provoking seizures in some chronic cases.[6]
## Treatment[edit]
Treatments included topical antimicrobials, conservative debridement of sequestra and surgery.[7] Surgical removal of the afflicted jaw bones could save the patient; otherwise, death from organ failure would follow. The disease was extremely painful and disfiguring to the patient, with dying bone tissue rotting away accompanied by a foul-smelling discharge. However, removal of the jaw bone had serious effects on patients' ability to eat, leading to further health concerns including malnutrition.
## Diagnostic imaging[edit]
The clinical features appear first, pain in the teeth and jaw, abscesses, etc. as described above. Once the clinical changes occur, and the problem is made known, a doctor or dentist could see changes in the jaw bones through radiographs or x-rays. The sequestra, the part or parts of the bone that dies and breaks off are light in terms of weight and yellow to brown in color. The phossy jaw can be clearly demarcated from similar entities by radiographs. In radiographs, the sequestra present as a typical worm-eaten appearance similar to a pumice stone. Sequestra appear osteoporotic and decalcified. Separation of the dead bone from the surrounding bone appears clearly demarcated in the radiographs.[1]
## History[edit]
### Discovery[edit]
The first case of phossy jaw was diagnosed by physician Lorinser of Vienna in 1839. The patient was a female Viennese matchstick maker who had been exposed to the phosphorus vapors over a five-year period.[8][9] He named the disease "Phosphorimus chronicus".[2] In 1844, Lorinser reported 22 cases of phossy jaw, and established the toxic effects of white phosphorus in matchsticks.[10]
### International and national legislation and public organisations[edit]
#### Europe[edit]
Finland, in 1872, was the first country to place an absolute ban on the manufacture, use, and sale of white phosphorus in matches, followed by Denmark in 1874 and France in 1897. In Great Britain, a ban on white phosphorus matches became effective on January 1, 1910.[8][10] The international association for labor legislation, an international conference, met at Berne, Switzerland in 1906 and pledged to prohibit the manufacture, importation, and sale of white phosphorus matches. This treaty was signed by Finland, Denmark, France, Switzerland, Luxemburg, Italy, the Netherlands, and Germany, in what is considered as the first international attempt to ban an industrial product.[8][10][11]
#### United States[edit]
Phossy jaw was publicized by the American Association for Labor Legislation, whose secretary, John B. Andrews, began investigating the disease in 1909 and found more than 100 cases. This report was published in the Bulletin of the Bureau of Labor. The White Phosphorus Match Act of 1912, signed by President William Howard Taft on April 9, 1912, required manufacturers who used white phosphorus to register with district collectors of internal revenue and to file periodic notices and returns; levied a tax of two cents per hundred matches; and required makers of white-phosphorus matches to affix revenue stamps to the matchboxes.[8][10][11]
#### Asia[edit]
Russia placed a heavy tax on white phosphorus matches in 1892 which was doubled in 1905. By 1906 the production of white phosphorus matches had been reduced to one match in every fifty.[8] India and Japan banned the use of white phosphorus in 1919 after the United States, followed by China's ban on white phosphorus usage in match production in 1925.[10]
## Match industry[edit]
White phosphorus was the active ingredient of most matches from the 1840s to the 1910s. Concern over phossy jaw contributed to the London matchgirls strike of 1888, and although this strike did not end the use of white phosphorus, William Booth and The Salvation Army opened a match-making factory in 1891 which used the much safer, though more expensive, red phosphorus.[12] The Salvation Army also campaigned with local retailers to get them to sell only red phosphorus matches.[12]
However, it was not until the use of white phosphorus was prohibited by the international Berne Convention in 1906, and these provisions were implemented in national laws over the next few years, that industrial use ceased.[13]
## Mechanism of action of white phosphorus[edit]
In phossy jaw patients, the forensic evidence suggested the conversion of yellow phosphorus to potent amino bisphosphonates by natural chemical reactions in the human body. Yellow phosphorus has a simple chemistry; when combined with H2O and CO
2 molecules from respiration and some amino acids such as lysine, bisphosphonates result.[3]
## Links to bisphosphonates[edit]
A related condition, bisphosphonate-associated osteonecrosis of the jaw (BON), has been described as a side-effect of amino-bisphosphonates, a class of phosphorus-based drugs that inhibit bone resorption and are used widely for treating osteoporosis, bone disease in cancer and some other conditions.[14] BON, sometimes called "bis-phossy jaw",[15] is primarily associated with the use of intravenous bisphosphonates in the treatment of cancer. The percentage incidence of BON from this use is approximately 1000 times higher than the incidence of BON caused by the use of oral bisphosphonates.[16]
## See also[edit]
* Bisphosphonate-associated osteonecrosis of the jaw
* Industrial injury
* Osteonecrosis of the jaw
* Radium jaw
## References[edit]
1. ^ a b c d Hughes, J. P; Baron, R; Buckland, D. H; Cooke, M. A; Craig, J. D; Duffield, D. P; Grosart, A. W; Parkes, P. W; Porter, A (1962). "Phosphorus Necrosis of the Jaw: A Present-Day Study: With Clinical and Biochemical Studies". British Journal of Industrial Medicine. 19 (2): 83–99. doi:10.1136/oem.19.2.83. JSTOR 27721724. PMC 1038164. PMID 14449812.
2. ^ a b c d Jacobsen, C; Zemann, W; Obwegeser, J. A; Grätz, K. W; Metzler, P (2014). "The phosphorus necrosis of the jaws and what can we learn from the past" (PDF). Oral and Maxillofacial Surgery. 18 (1): 31–7. doi:10.1007/s10006-012-0376-z. PMID 23271457.
3. ^ a b c Marx, Robert E (2008). "Uncovering the Cause of "Phossy Jaw" Circa 1858 to 1906: Oral and Maxillofacial Surgery Closed Case Files—Case Closed". Journal of Oral and Maxillofacial Surgery. 66 (11): 2356–63. doi:10.1016/j.joms.2007.11.006. PMID 18940506.
4. ^ "Workshops of Horror". New Zealand Department of Labour. Archived from the original on 20 June 2007.
5. ^ Chustecka, Zosia (2005). "Bisphosphonates and jaw osteonecrosis". Medscape.
6. ^ Pollock, RA; Brown TW, Jr; Rubin, DM (September 2015). ""Phossy Jaw" and "Bis-phossy Jaw" of the 19th and the 21st Centuries: The Diuturnity of John Walker and the Friction Match". Craniomaxillofacial trauma & reconstruction. 8 (3): 262–70. doi:10.1055/s-0035-1558452. PMC 4812794. PMID 27053988.
7. ^ Hellstein, J. W; Marek, C. L (2004). "Bis-phossy jaw, phossy jaw, and the 21st century: Bisphosphonate-associated complications of the jaws". Journal of Oral and Maxillofacial Surgery. 62 (12): 1563–5. doi:10.1016/j.joms.2004.09.004. PMID 15573361.
8. ^ a b c d e Lee, R. Alton (1966). "The Eradication of Phossy Jaw: A Unique Development Of Federal Police Power". The Historian. 29: 1–21. doi:10.1111/j.1540-6563.1966.tb01764.x.
9. ^ "The Return of the Dreaded Phossy Jaw". RDH Magazine. July 2009.
10. ^ a b c d e Myers, M. L; McGlothlin, J. D (1996). "Matchmakers' "phossy jaw" eradicated". American Industrial Hygiene Association Journal. 57 (4): 330–2. PMID 8901233.
11. ^ a b "Phosphorus Poisoning in the Match Industry in the United States". JAMA. 303 (22): 2303. 2010. doi:10.1001/jama.2010.696.
12. ^ a b Fact and fiction about Salvation Army history. salvationarmy.org.au Archived August 19, 2008, at the Wayback Machine
13. ^ Phossy jaw. Rootsweb.com. Retrieved on 2018-04-12.
14. ^ Durie BG; Katz M; Crowley J (July 2005). "Osteonecrosis of the jaw and bisphosphonates". N. Engl. J. Med. 353 (1): 99–102, discussion 99–102. doi:10.1056/NEJM200507073530120. PMID 16000365.
15. ^ Abu-Id, Mario H; Warnke, Patrick H; Gottschalk, Joachim; Springer, Ingo; Wiltfang, Jörg; Acil, Yahya; Russo, Paul A.J; Kreusch, Thomas (2008). ""Bis-phossy jaws" – High and low risk factors for bisphosphonate-induced osteonecrosis of the jaw". Journal of Cranio-Maxillofacial Surgery. 36 (2): 95–103. doi:10.1016/j.jcms.2007.06.008. PMID 18234504.
16. ^ Cartsos VM, Zhu S, Zavras AI (January 2008). "Bisphosphonate use and the risk of adverse jaw outcomes: a medical claims study of 714,217 people". J Am Dent Assoc. 139 (1): 23–30. doi:10.14219/jada.archive.2008.0016. PMID 18167381.
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*[c.]: circa
*[AA]: Adrenergic agonist
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*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
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*[GHB]: γ-aminobutyric acid
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*[et al.]: et alia (and others)
*[a.k.a.]: also known as
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*[XLSMA]: X-linked spinal muscular atrophies
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Phossy jaw
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None
| 26,551 |
wikipedia
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https://en.wikipedia.org/wiki/Phossy_jaw
| 2021-01-18T18:52:17 |
{"wikidata": ["Q1814753"]}
|
This article needs additional citations for verification. Please help improve this article by adding citations to reliable sources. Unsourced material may be challenged and removed.
Find sources: "Collapsed vein" – news · newspapers · books · scholar · JSTOR (July 2007) (Learn how and when to remove this template message)
Collapsed veins are a common injury that results from repeated use of intravenous injections. They are particularly common where injecting conditions are less than ideal, such as in the context of drug abuse.
## Contents
* 1 Causes
* 2 Mechanism
* 3 Prognosis
* 4 See also
* 5 References
## Causes[edit]
Permanent vein collapse occurs as a consequence of:
* Repeated injections, especially with blunt needles.
* Poor injection technique.
* Injection of substances which irritate the veins; in particular, injection of liquid methadone intended for oral use.
Smaller veins may collapse as a consequence of too much suction being used when pulling back against the plunger of the syringe to check that the needle is in the vein. This will pull the sides of the vein together and, especially if they are inflamed, they may stick together causing the vein to block. Removing the needle too quickly after injecting can have a similar effect.
## Mechanism[edit]
Veins may become temporarily blocked if the internal lining of the vein swells in response to repeated injury or irritation. This may be caused by the needle, the substance injected, or donating plasma.
Individual endothelial cells may change the structure of their cytoskeleton when a vein collapses to better deal with the increased shear stress.[1]
## Prognosis[edit]
Once endothelial swelling subsides, circulation will often become re-established. Collapsed veins may never recover. Many smaller veins are created by the body to circulate the blood, but they are not adequate for injections or IVs.
## See also[edit]
* Phlebitis
## References[edit]
1. ^ Haond, C.; Ribreau, C.; Boutherin-Falson, O.; Finet, M. (1999-10-01). "Laminar flow through a model of collapsed veins. Morphometric response of endothelial vascular cells to a longitudinal shear stress non uniform cross-wise". The European Physical Journal Applied Physics. 8 (1): 87–96. doi:10.1051/epjap:1999233. ISSN 1286-0042.
This medical symptom article is a stub. You can help Wikipedia by expanding it.
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*[c.]: circa
*[AA]: Adrenergic agonist
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*[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
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*[Diff]: Difference
*[7d avg]: Average of the last 7 days
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*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-aminobutyric 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
|
Collapsed vein
|
c3805057
| 26,552 |
wikipedia
|
https://en.wikipedia.org/wiki/Collapsed_vein
| 2021-01-18T18:29:49 |
{"umls": ["C3805057"], "wikidata": ["Q5145938"]}
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Glycogen storage disease type 15 is an extremely rare genetic glycogen storage disease reported in one patient to date. Clinical signs included muscle weakness, cardiac arrhythmia associated with accumulation of abnormal storage material in the heart and glycogen depletion in skeletal muscle.
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*[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-aminobutyric 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
|
Glycogen storage disease with severe cardiomyopathy due to glycogenin deficiency
|
c3150754
| 26,553 |
orphanet
|
https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=263297
| 2021-01-23T18:25:51 |
{"omim": ["613507"], "icd-10": ["E74.0"], "synonyms": ["GSD type 15", "GSD type XV", "GSD with severe cardiomyopathy due to glycogenin deficiency", "Glycogen storage disease type 15", "Glycogen storage disease type XV", "Glycogenosis type 15", "Glycogenosis type XV", "Glycogenosis with severe cardiomyopathy due to glycogenin deficiency"]}
|
A number sign (#) is used with this entry because of evidence that 46,XX sex reversal and 46,XX true hermaphroditism are caused by translocation of a segment of the Y chromosome containing the SRY gene (480000; Yp11.3) to the X chromosome.
Description
A disorder of sex development (DSD) is a 'congenital condition in which development of chromosomal, gonadal, or anatomic sex is atypical.' 46,XX DSD is a disorder of gonadal (ovarian) development, which may be complete or partial (Lee et al., 2006). Sex-reversed 46,XX individuals can present as phenotypically normal males, as men with genital ambiguities, or as true hermaphrodites (Ahmad et al., 2012).
46,XX male sex reversal is a condition in which a phenotypically normal male has a female genotype. A 'true hermaphrodite' must have both mature ovarian and mature testicular tissue with histologic evidence of follicles and tubules, respectively (van Niekerk and Retief, 1981). It is a genetically heterogeneous condition.
### Genetic Heterogeneity of 46,XX Sex Reversal
Another form of 46,XX sex reversal (SRXX2; 278850) is caused by duplication or triplication in a regulatory region upstream of the SOX9 gene (608160) on chromosome 17q24. SRXX3 (300833) is caused by duplications or deletions in the SOX3 (313430) regulatory region on chromosome Xq26.
Nomenclature
As a result of discussions at the International Consensus Conference on Intersex, Lee et al. (2006) proposed the term 'disorder(s) of sex development' (DSD) to replace the previously used terms 'pseudohermaphroditism,' 'intersex,' and 'sex reversal.'
Clinical Features
Van Niekerk and Retief (1981) found that the ovotestis was the most common gonad of the true hermaphrodite, found in 44.3% of 406 cases. The genotype of most affected individuals was 46,XX, but many had 46,XY (see 400044) or a mosaic of 46,XX/46,XY. Of 106 cases, 60% were considered to have a male phenotype and 40% a female phenotype, which did not correlate with presence or absence of the Y chromosome, although the presence of a Y chromosome tended to be associated with a male phenotype. Krob et al. (1994) determined that approximately 60% of affected individuals are 46,XX, 33% are mosaic 46,XX/46,XY, and 7% are 46,XY.
Armendares et al. (1975) and Gallegos et al. (1976) reported a family with 3 affected sibs. The proband had a male phenotype and gender role, bilateral scrotal ovotestes with palpable nodules, and absence of mullerian structures. The karyotype was 46,XX in peripheral blood lymphocytes and gonadal fibroblasts.
Vorona et al. (2007) compared the 46,XX male syndrome and the more frequent 47,XXY-Klinefelter syndrome in regard to clinical, hormonal, and epigenetic features. The 46,XX males were significantly smaller than Klinefelter patients or healthy men, resembling female controls in height and weight. The incidence of maldescended testes was significantly higher than that in Klinefelter patients and controls. Gynecomastia was more frequent in comparison with controls, whereas there was a nonsignificant trend in comparison with Klinefelter patients. All XX males were infertile and most were hypogonadal. The inactivation patterns of androgen receptor (AR; 313700) alleles in XX males were significantly more skewed than in Klinefelter patients and women. Seven of 10 heterozygous XX male patients displayed an extreme skewing of more than 80% with no preference toward the shorter or longer AR allele. The length of the AR CAG repeat polymorphism was positively related to traits of hypogonadism. Vorona et al. (2007) concluded that nonrandom X-chromosome inactivation ratios are common in XX males, possibly due to the translocated SRY gene.
Aksglaede et al. (2008) evaluated the role of abnormal chromosome constitution for longitudinal growth in relation to reproductive hormones, IGF1 (147440), and IGFBP3 (146732) in eighty-six 47,XXY males, fourteen 46,XX males, and nine 47,XYY. They found accelerated growth in early childhood in boys with 47,XXY and 47,XYY karyotypes, whereas 46,XX males were shorter than controls. These abnormal growth patterns were not reflected in circulating levels of IGF1 and IGFBP3. The boys with 46,XX and 47,XXY karyotypes developed hypogonadism in puberty, but androgen secretion in 47,XYY boys remained normal. Aksglaede et al. (2008) suggested that the abnormal stature of these patients may be a result of abnormal gene expression due to the underlying chromosome aberration resulting in excessive expression of growth-related genes.
Ahmad et al. (2012) reported a 19-year-old 46,XX Middle Eastern man, born of consanguineous parents, who presented with bilateral gynecomastia, sparse facial hair, and low libido. He had normal axillary and pubic hair, and external genitalia were male, with normal penile length but small soft atrophic testes. Testosterone was low, whereas follicle-stimulating hormone (FSH; see 136530) and luteinizing hormone (LH; see 152780) were both markedly elevated. Pelvic MRI did not show any Mullerian structures, and the urinary system appeared normal. Semen analysis revealed azoospermia, with a normal-volume (3 mL) fructose-positive ejaculate.
Mapping
Using a Y-specific DNA clone for in situ hybridization studies, Andersson et al. (1986) demonstrated transfer of Y-material to the end of Xp in 3 XX males. By study of XX males with translocation of material from Yp onto Xp, and by study of XY females with deletion of part of the short arm of the Y chromosome, Simpson et al. (1987) were able to separate the genetic loci for the H-Y antigen (426000) and for testis-determining factor (TDF), or SRY. H-Y antigen maps to the centromeric region or the proximal part of the long arm of the Y chromosome, whereas SRY maps more distally on the short arm of the Y chromosome.
Cytogenetics
Nieto et al. (2004) reported a 12-year-old phenotypic male who was evaluated for ambiguous genitalia, small phallus, labioscrotal folds, and a urogenital sinus. He had low levels of serum testosterone. Exploratory surgery demonstrated a right fallopian tube, hypoplastic uterus, a left ovary, and a right ovotestis. Conventional karyotype showed 46,XX, but DNA from peripheral blood leukocytes and ovotestis demonstrated a second cell line with presence of Ycen and Yqh and absence of all Yp sequences (delYp). FISH analysis confirmed absence of the SRY gene. Further analysis showed that most of the cells were 46,XX, but some cells were XX,delYp. In addition, there were 45,X and 47,XXX cell lines. Nieto et al. (2004) concluded that the different cell lines in this patient derived from early embryogenesis and that the phenotype could not be attributed to the SRY gene. They suggested that X polysomy may also be involved in gonadal development.
Molecular Genetics
Approximately 10% of 46,XX true hermaphrodites have the SRY gene (Nieto et al., 2004).
The mechanism of masculinization in occasional persons with an apparently normal female chromosome complement (and a Klinefelter phenotype) had been thought to be due to reciprocal X-Y interchange at paternal meiosis (Ferguson-Smith, 1966).
Inoue et al. (1998) reported a 46,XX true hermaphrodite born with ambiguous genitalia who was found to have a testis on the right side and an ovotestis on the left side. No SRY was detected in DNA from peripheral blood leukocytes, but SRY was found in tissue from the ovotestis, indicating mosaicism.
Margarit et al. (2000) studied a 46,XX true hermaphrodite and found that Yp-specific sequences, including the SRY gene, had been transferred to the long arm of one of the X chromosomes at the Xq28 level. The derivative X chromosome of the patient lacked q-telomeric sequences. The authors suggested that this was the first report of a Yp/Xq translocation. The coexistence of testicular and ovarian tissue in the patient may have arisen by differential inactivation of the Y-bearing X chromosome, in which Xq telomeric sequences were missing.
In a 46,XX Middle Eastern man, Ahmad et al. (2012) performed FISH analysis that indicated the presence of the SRY region on 1 of the X chromosomes, consistent with a diagnosis of 46,XX(SRY+).
History
In Finland, de la Chapelle et al. (1978) observed three XX males in one pedigree consistent with autosomal recessive inheritance. All three XX males and their mothers were found to have H-Y antigen (426000) and their fathers appeared to have excess H-Y antigen. The data were interpreted as indicating that the H-Y structural loci constitute a family of testis-determining genes and that either dominant or recessive modes of XX sex reversal can be produced by Y-autosome (or Y-X) translocations, depending upon the particular portion of H-Y genes transferred. Cytogenetic evidence of structural abnormality of Xp was presented by Evans et al. (1979) but could not be corroborated by de la Chapelle et al. (1979).
Fraccaro et al. (1979) found H-Y positivity in 2 46,XX sibs, one of female and one of male gender but both with ambiguous external genitalia and ovotestis. The mother was H-Y negative. They assumed that the underlying mutation was transmitted by the father as an autosomal dominant.
INHERITANCE \- X-linked dominant GROWTH Height \- Tall stature CHEST Breasts \- Gynecomastia GENITOURINARY External Genitalia (Male) \- Normal penis \- Ambiguous genitalia \- Hypospadias External Genitalia (Female) \- Enlarged clitoris \- Urogenital sinus Internal Genitalia (Male) \- Low libido \- Small, soft testes \- Azoospermia \- Ovotestis, unilateral \- Fibrous ovarian stroma \- Primordial ovarian follicles \- Seminiferous tubules without germ cells, rete testis, or Leydig cells Internal Genitalia (Female) \- Bicornuate uterus \- Ovary and fallopian tube, unilateral \- Endometrioma ENDOCRINE FEATURES \- Low testosterone \- Elevated follicle-stimulating hormone (FSH) \- Elevated luteinizing hormone (LH) MISCELLANEOUS \- Phenotypic variability, with some patients presenting as 46,XX males and others as 46,XX true hermaphrodites MOLECULAR BASIS \- Caused by translocation of a segment of the Y chromosome containing the sex-determining region Y gene (SRY, 480000 ) to the X chromosome ▲ 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-aminobutyric 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
|
46,XX SEX REVERSAL 1
|
c0432475
| 26,554 |
omim
|
https://www.omim.org/entry/400045
| 2019-09-22T16:17:01 |
{"omim": ["400045"], "orphanet": ["393", "2138"], "synonyms": ["Alternative titles", "46,XX SEX REVERSAL, SRY-POSITIVE", "XX MALE, SRY-POSITIVE", "46,XX TESTICULAR DISORDER OF SEX DEVELOPMENT", "46,XX GONADAL DYSGENESIS, COMPLETE, SRY-POSITIVE"], "genereviews": ["NBK1416"]}
|
Chloracne
Chloracne in this herbicide production worker involved almost every follicular orifice on his face and neck with comedones, papules and cystlike lesions.
SpecialtyDermatology
Chloracne is an acne-like eruption of blackheads, cysts, and pustules associated with exposure to certain halogenated aromatic compounds, such as chlorinated dioxins and dibenzofurans. The lesions are most frequently found on the cheeks, behind the ears, in the armpits and groin region.
The condition was first described in German industrial workers in 1897 by Siegfried Bettmann,[1] and was initially believed to be caused by exposure to chlorine (hence the name "chloracne"). It was only in the mid-1950s that chloracne was associated with aromatic hydrocarbons.[2] The substances that may cause chloracne are now collectively known as chloracnegens.
Chloracne is particularly linked to toxic exposure to dioxins (byproducts of many chemical processes, including the manufacture of herbicides such as Agent Orange)—so much so that it is considered a clinical sign of dioxin exposure. The severity and onset of chloracne may follow a typical asymptotic dose-response relationship curve.
## Contents
* 1 Cause
* 2 Treatment
* 3 Related conditions
* 4 Notable cases
* 5 References
* 6 External links
## Cause[edit]
Chloracne normally results from direct skin contact with chloracnegens, although ingestion and inhalation are also possible causative routes.
Chloracnegens are fat-soluble, meaning they persist in the body fat for a very long period following exposure. Chloracne is a chronic inflammatory condition that results from this persistence, in combination with the toxin's chemical properties. It is believed, at least from rodent models, that the toxin activates a series of receptors promoting macrophage proliferation, inducing neutrophilia and leading to a generalised inflammatory response in the skin. This process may also be augmented by induction of excess tumor necrosis factor in the blood serum.
The inflammatory processes lead to the formation of keratinous plugs in skin pores, forming yellowish cysts and dark pustules. The associated pus is usually a color of green approximating that of a tennis ball. The skin lesions occur mainly in the face, but in more severe cases they involve the shoulders and chest, the back, and the abdomen. In advanced cases, the lesions appear also on the arms, neck, thighs, legs, hands and feet.
In some instances, chloracne may not appear for three to four weeks after toxic exposure; however, in other cases—particularly in events of massive exposure—the symptoms may appear within days.[2][3]
## Treatment[edit]
Once chloracne has been identified, the primary action is to remove the patient and all other individuals from the source of contamination. Further treatment is symptomatic.
Secondary infections on severe or persistent lesions may need to be treated with oral antibiotics or isotretinoin. However, chloracne itself can be highly resistant to any treatment.
The course of the disease is highly variable. In some cases the lesions may disappear within two years or so; however, in other cases the lesions may be effectively permanent (mean duration of lesions in one 1984 study was 26 years, with some workers remaining disfigured over three decades after exposure).[4]
## Related conditions[edit]
Chloracne is very often seen in combination with hyperhidrosis (clammy, sweaty skin) and porphyria cutanea tarda (a skin condition of increased pigmentation, hair coarsening and blistering).
## Notable cases[edit]
Viktor Yushchenko at the University of Amsterdam, with chloracne from TCDD dioxin poisoning (2006)
* In 1949, 226 workers became ill after a container of herbicide exploded at a Monsanto Company plant in Nitro, West Virginia.[5] Many were diagnosed with chloracne; a medical report at the time described "systemic intoxication in the workers involving most major organ systems."[citation needed]
* 193 cases of chloracne occurred in Seveso, Italy, in 1976 following an industrial accident in which up to a few kilograms of TCDD were released into the atmosphere.[6]
* Thousands of individuals were exposed at Fort McClellan, Alabama, when a chemical weapons training center and a nearby Monsanto factory disposed of chemicals into a creek over several decades.[7] Many individuals[quantify] settled out of court, but a class-action suit is still ongoing.[8] Although the incineration of the chemical weapons at Fort McClellan ended in 2011, areas of the base remain closed or off-limits due to the residual contamination.
* In 1968, almost 2,000 individuals in northern Kyūshū, Japan, suffered chloracne, among other symptoms, after chronic exposure to cooking oils contaminated with PCBs and PCDFs. The syndrome came to be called Yushō disease or "Rice Oil" disease.
* In 1979, a similar case of mass contamination of cooking oil was reported in central Taiwan. Over 2,000 individuals were affected by what came to be called Yu-Cheng.[9]
* Ukrainian President Viktor Yushchenko suffered from prominent facial chloracne and was diagnosed with dioxin poisoning in late 2004.[10]
* A Hong Kong journalist from the Stand News, Chan Yu-hong, declared in a Facebook post that he was diagnosed by a traditional Chinese medicine practitioner with chloracne after exposure to tear gas while covering the 2019 Hong Kong Protests.[11][12]
## References[edit]
1. ^ Siegfried Bettmann (1869–1939), University of Heidelberg
2. ^ a b Williams DE, Wolfe WH, Lustik MB, et al. (1995). "An Epidemiologic Investigation of Health Effects in Air Force Personnel Following Exposure to Herbicides". p. 427. A313403. Archived from the original on 2012-02-10. Retrieved 2008-08-20.
3. ^ De Marchia B, Ravetzb JR (1999). "Risk management and governance: a post-normal science approach". Futures. 31 (7): 743–57. doi:10.1016/S0016-3287(99)00030-0.
4. ^ Moses M, Lilis R, Crow KD, et al. (1984). "Health status of workers with past exposure to 2,3,7,8-tetrachlorodibenzo-p-dioxin in the manufacture of 2,4,5-trichlorophenoxyacetic acid: comparison of findings with and without chloracne". Am. J. Ind. Med. 5 (3): 161–82. doi:10.1002/ajim.4700050303. PMID 6142642.
5. ^ Barlett DL, Steele JB (2008). "Monsanto's Harvest Of Fear". Vanity Fair (May).
6. ^ Bertazzi, P. A. (1991-07-01). "Long-term effects of chemical disasters. Lessons and results from Seveso". The Science of the Total Environment. 106 (1–2): 5–20. doi:10.1016/0048-9697(91)90016-8. ISSN 0048-9697. PMID 1835132.
7. ^ "Corporate Giant Monsanto Hid Decades Of Pollution". Commondreams.org. 2002-01-01. Retrieved 2013-09-08.
8. ^ "Monsanto creek contaminated". CatastropheMap, Ltd. Archived from the original on 23 March 2009. Retrieved 10 April 2014.
9. ^ Aoki Y (2001). "Polychlorinated biphenyls, polychlorinated dibenzo-p-dioxins, and polychlorinated dibenzofurans as endocrine disrupters--what we have learned from Yusho disease". Environ. Res. 86 (1): 2–11. doi:10.1006/enrs.2001.4244. PMID 11386736.
10. ^ "BBC NEWS - Health - Yushchenko and the poison theory". bbc.co.uk. Retrieved 2014-12-08.
11. ^ "陳裕匡". www.facebook.com. Retrieved 2019-11-30.
12. ^ Press, Hong Kong Free (2019-11-14). "Hong Kong reporter diagnosed with chloracne after tear gas exposure, prompting public health concerns". Hong Kong Free Press HKFP. Retrieved 2019-11-14.
## External links[edit]
Classification
D
* ICD-10: L70.8
* MeSH: D054506
* DiseasesDB: 31706
External resources
* eMedicine: topic/620
(Acneiform Eruptions)
Media related to Chloracne at Wikimedia Commons
* 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
*[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-aminobutyric 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
|
Chloracne
|
c0263454
| 26,555 |
wikipedia
|
https://en.wikipedia.org/wiki/Chloracne
| 2021-01-18T18:33:26 |
{"mesh": ["D054506"], "icd-10": ["L24.2", "L70.8"], "wikidata": ["Q426955"]}
|
Microhydranencephaly
Other namesNDE1-related microhydranencephaly
Microhydranencephaly (MHAC) is a severe abnormality of brain development characterized by both microcephaly and hydranencephaly.[1] Signs and symptoms may include severe microcephaly, scalp rugae (a series of ridges), and profound developmental delay. Familial occurrence of the condition is very rare but it has been reported in a few families. It has been suggested that MHAC is possibly inherited in an autosomal recessive manner involving a mutation of the gene NDE1.[1][2]
## Notable cases[edit]
* Jaxon Buell was born on August 27, 2014 with 80% of his brain, and most of his skull, missing. He surpassed all doctors expectations, who did not expect him to live to his second birthday.[3] He passed away at five years old.[4]
## References[edit]
1. ^ a b Behunova, Jana; Zavadilikova, Eva; Bozoglu, Tarik M.; Gunduz, Aysegul; Tolun, Aslihan; Yalcinkaya, Cengiz (2010-01-01). "Familial microhydranencephaly, a family that does not map to 16p13.13-p12.2: relationship with hereditary fetal brain degeneration and fetal brain disruption sequence". Clinical Dysmorphology. 19 (3): 107–118. doi:10.1097/mcd.0b013e32833946e9. PMID 20375726. S2CID 30667255.
2. ^ "OMIM Entry - # 605013 - MICROHYDRANENCEPHALY; MHAC". omim.org. Retrieved 2015-09-26.
3. ^ Pawlowski, A. "Baby born with part of brain missing turns 2, reaches new milestones". TODAY.com. Retrieved 2017-09-04.
4. ^ Micolucci, Vic (2020-04-07). "Jaxon Buell, Florida 'miracle boy,' passes away at 5". WJXT. Retrieved 2020-04-17.
This article incorporates text from a publication now in the public domain: "Microhydranencephaly". Genetic and Rare Diseases Information Center. National Institutes of Health. 11 April 2012. Retrieved 26 September 2015.
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-aminobutyric 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
|
Microhydranencephaly
|
c1857977
| 26,556 |
wikipedia
|
https://en.wikipedia.org/wiki/Microhydranencephaly
| 2021-01-18T18:44:50 |
{"gard": ["10216"], "mesh": ["C537555"], "umls": ["C1857977"], "orphanet": ["443162"], "wikidata": ["Q21014372"]}
|
## Description
Central centrifugal cicatricial alopecia (CCCA) is the most common type of primary scarring alopecia affecting women of African ancestry, with an estimated prevalence of 2.7 to 5.6%. It may be triggered by hair-grooming habits; however, familial occurrence has been reported. Mean age at presentation is 36 years. The first sign is often unexplained hair breakage, followed by hair thinning, primarily involving the vertex scalp and progressing centrifugally. Histopathologic examination shows varying degrees of lymphocytic inflammation, follicular degeneration, and fibrosis (Malki et al., 2019).
Clinical Features
Gathers and Lim (2009) reviewed published studies of CCCA, noting that it was first reported as 'hot comb alopecia' in 1968. Other terminology included 'follicular degeneration syndrome (FDS),' 'chemically induced cosmetic alopecia,' and 'scarring alopecia in African Americans.' Eventually the descriptive designation 'central centrifugal cicatricial alopecia,' believed to encompass the previously described entities, was proposed by the North American Hair Research Society in 2001. The disorder appeared to occur almost exclusively in persons of African ancestry, predominantly in females. Commonly reported histopathologic features included lymphocytic folliculitis, perifollicular granulomatous inflammation with hair shaft foreign body giant cells, prominent destruction of the folliculosebaceous units with scar tissue fibrosis at sites of former hair follicles, and retention of arrector pili muscles. The etiology of CCCA was hypothesized to be related to the lower tensile strength and relative brittleness of African hair, in association with irritation or inflammation from hair-care processes such as thermal or chemical hair straightening, as well as excessive traction from braids and weaves.
Ogunleye et al. (2014) reviewed published research on CCCA, noting that the pathogenesis was unclear and that current evidence did not support a strong causal association with traction and/or the use of relaxers. Because 2 families had been reported in which multiple members were affected, including at least 1 affected member in each family without a history of chemical or mechanical trauma to the hair, the authors suggested that there might be a genetic defect as a primary pathologic event, with triggering or exacerbation of the disease by traumatic hair practices.
Malki et al. (2019) studied 16 women of African ancestry who were clinically diagnosed with moderate to severe CCCA. Examination revealed hair loss over the crown, with centrifugal spread and a perifollicular grayish halo on dermoscopy. Biopsy showed decreased hair follicle density and perifollicular lymphocytic infiltration with areas of fibrosis.
Inheritance
Malki et al. (2019) reported 2 families with affected mothers and daughters, consistent with a dominant mode of inheritance.
Molecular Genetics
For discussion of a possible association between CCCA and variation in the PADI3 gene, see 606755.
INHERITANCE \- Autosomal dominant SKIN, NAILS, & HAIR Skin Histology \- Decreased hair-follicle density of scalp \- Perifollicular lymphocytic infiltration \- Areas of fibrosis Hair \- Hair breakage \- Hair thinning at vertex scalp \- Progressive centrifugal loss of hair \- Perifollicular grayish halo on dermoscopy MISCELLANEOUS \- Primarily affects women of African ancestry ▲ 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-aminobutyric 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
|
CENTRAL CENTRIFUGAL CICATRICIAL ALOPECIA
|
c1274708
| 26,557 |
omim
|
https://www.omim.org/entry/618352
| 2019-09-22T15:42:23 |
{"omim": ["618352"]}
|
Stomach cancer
Other namesGastric cancer
A stomach ulcer that was diagnosed as cancer on biopsy and surgically removed
SpecialtyGastroenterology Oncology
SymptomsEarly: Heartburn, bloating, upper abdominal pain, nausea, belching, loss of appetite.[1]
Later: Weight loss, yellowing of the skin and whites of the eyes, vomiting blood, difficulty swallowing, blood in the stool[1]
Usual onsetOver years[2]
TypesGastric carcinomas, lymphoma, mesenchymal tumor[2]
CausesHelicobacter pylori, genetics[2][3]
Risk factorsSmoking, dietary factors such as pickled vegetables, obesity[2][4]
Diagnostic methodBiopsy done during endoscopy[1]
PreventionMediterranean diet, stopping smoking[2][5]
TreatmentSurgery, chemotherapy, radiation therapy, targeted therapy[1]
PrognosisFive-year survival rate:
< 10% (advanced cases),[6]
32% (US),[7] 71% (Japan)[8]
Frequency3.5 million (2015)[9]
Deaths783,000 (2018)[10]
Stomach cancer, also known as gastric cancer, is a cancer that develops from the lining of the stomach.[11] Most cases of stomach cancers are gastric carcinomas, which can be divided into a number of subtypes including gastric adenocarcinomas.[2] Lymphomas and mesenchymal tumors may also develop in the stomach.[2] Early symptoms may include heartburn, upper abdominal pain, nausea and loss of appetite.[1] Later signs and symptoms may include weight loss, yellowing of the skin and whites of the eyes, vomiting, difficulty swallowing and blood in the stool among others.[1] The cancer may spread from the stomach to other parts of the body, particularly the liver, lungs, bones, lining of the abdomen and lymph nodes.[12]
The most common cause is infection by the bacterium Helicobacter pylori, which accounts for more than 60% of cases.[2][3][13] Certain types of H. pylori have greater risks than others.[2] Smoking, dietary factors such as pickled vegetables and obesity are other risk factors.[2][4] About 10% of cases run in families, and between 1% and 3% of cases are due to genetic syndromes inherited from a person's parents such as hereditary diffuse gastric cancer.[2] Most of the time, stomach cancer develops in stages over years.[2] Diagnosis is usually by biopsy done during endoscopy.[1] This is followed by medical imaging to determine if the disease has spread to other parts of the body.[1] Japan and South Korea, two countries that have high rates of the disease, screen for stomach cancer.[2]
A Mediterranean diet lowers the risk of stomach cancer, as does the stopping of smoking.[2][5] There is tentative evidence that treating H. pylori decreases the future risk.[2][5] If stomach cancer is treated early, it can be cured.[2] Treatments may include some combination of surgery, chemotherapy, radiation therapy and targeted therapy.[1][14] If treated late, palliative care may be advised.[2] Some types of lymphoma can be cured by eliminating H. pylori.[15] Outcomes are often poor, with a less than 10% five-year survival rate in the Western world for advanced cases.[6] This is largely because most people with the condition present with advanced disease.[6] In the United States, five-year survival is 31.5%,[7] while in South Korea it is over 65% and Japan over 70%, partly due to screening efforts.[2][8]
Globally, stomach cancer is the fifth leading type of cancer and the third leading cause of death from cancer, making up 7% of cases and 9% of deaths.[16] In 2018, it newly occurred in 1.03 million people and caused 783,000 deaths.[10] Before the 1930s, in much of the world, including most Western developed countries, it was the most common cause of death from cancer.[17][18][19] Rates of death have been decreasing in many areas of the world since then.[2] This is believed to be due to the eating of less salted and pickled foods as a result of the development of refrigeration as a method of keeping food fresh.[20] Stomach cancer occurs most commonly in East Asia and Eastern Europe.[2] It occurs twice as often in males as in females.[2]
## Contents
* 1 Signs and symptoms
* 2 Risk factors
* 2.1 Infections
* 2.2 Smoking
* 2.3 Diet
* 2.4 Genetics
* 2.5 Other
* 3 Diagnosis
* 3.1 Histopathology
* 3.2 Staging
* 4 Prevention
* 5 Management
* 5.1 Surgery
* 5.2 Chemotherapy
* 5.3 Targeted therapy
* 5.4 Radiation
* 5.5 Lymphoma
* 6 Prognosis
* 7 Epidemiology
* 8 Other animals
* 9 References
* 10 External links
## Signs and symptoms[edit]
Endoscopic image of linitis plastica, a type of stomach cancer where the entire stomach is invaded, leading to a leather bottle-like appearance with blood coming out of it
Endoscopic images of the stomach cancer in early stage. Its histology was poorly differentiated adenocarcinoma with signet ring cells. Left above: normal, right above: FICE, left low: acetate stained, right low: AIM stained
Stomach cancer is often either asymptomatic (producing no noticeable symptoms) or it may cause only nonspecific symptoms (symptoms that may also be present in other related or unrelated disorders) in its early stages. By the time symptoms occur, the cancer has often reached an advanced stage (see below) and may have metastasized (spread to other, perhaps distant, parts of the body), which is one of the main reasons for its relatively poor prognosis.[21] Stomach cancer can cause the following signs and symptoms:
Early cancers may be associated with indigestion or a burning sensation (heartburn). However, fewer than 1 in every 50 people referred for endoscopy due to indigestion has cancer.[22] Abdominal discomfort and loss of appetite, especially for meat, can occur.
Gastric cancers that have enlarged and invaded normal tissue can cause weakness, fatigue, bloating of the stomach after meals, abdominal pain in the upper abdomen, nausea and occasional vomiting, diarrhea or constipation. Further enlargement may cause weight loss or bleeding with vomiting blood or having blood in the stool, the latter apparent as black discolouration (melena) and sometimes leading to anemia. Dysphagia suggests a tumour in the cardia or extension of the gastric tumour into the esophagus.
These can be symptoms of other problems such as a stomach virus, gastric ulcer, or tropical sprue.
## Risk factors[edit]
Gastric cancer can occur as a result of many factors.[23] It occurs twice as commonly in males as females. Estrogen may protect women against the development of this form of cancer.[24][25]
### Infections[edit]
Helicobacter pylori infection is an essential risk factor in 65–80% of gastric cancers, but only 2% of people with Helicobacter infections develop stomach cancer.[4][26] The mechanism by which H. pylori induces stomach cancer potentially involves chronic inflammation, or the action of H. pylori virulence factors such as CagA.[27] It was estimated that Epstein–Barr virus is responsible for 84,000 cases per year.[28] AIDS is also associated with elevated risk.[4]
### Smoking[edit]
Smoking increases the risk of developing gastric cancer significantly, from 40% increased risk for current smokers to 82% increase for heavy smokers. Gastric cancers due to smoking mostly occur in the upper part of the stomach near the esophagus.[29][30][31] Some studies show increased risk with alcohol consumption as well.[4][32]
### Diet[edit]
Sequence of 123-iodine human scintiscans after an intravenous injection: (from left) after 30 minutes, 20 hours and 48 hours. A high and rapid concentration of radio-iodine is evident in gastric mucosa of the stomach, in salivary glands, oral mucosa and in the periencephalic and cerebrospinal fluid (left). In the thyroid gland, I-concentration is more progressive, also in the reservoir (from 1% after 30 minutes to 5.8 % after 48 hours, of the total injected dose).[33]
Dietary factors are not proven causes, and the association between stomach cancer and various foods and beverages is weak.[34] Some foods including smoked foods, salt and salt-rich foods, red meat, processed meat, pickled vegetables, and bracken are associated with a higher risk of stomach cancer.[4][35][36] Nitrates and nitrites in cured meats can be converted by certain bacteria, including H. pylori, into compounds that have been found to cause stomach cancer in animals.
Fresh fruit and vegetable intake, citrus fruit intake, and antioxidant intake are associated with a lower risk of stomach cancer.[4][29] A Mediterranean diet is associated with lower rates of stomach cancer,[37] as is regular aspirin use.[4]
Obesity is a physical risk factor that has been found to increase the risk of gastric adenocarcinoma by contributing to the development of gastroesophageal reflux disease (GERD).[38] The exact mechanism by which obesity causes GERD is not completely known. Studies hypothesize that increased dietary fat leading to increased pressure on the stomach and the lower esophageal sphincter, due to excess adipose tissue, could play a role, yet no statistically significant data has been collected.[39] However, the risk of gastric cardia adenocarcinoma, with GERD present, has been found to increase more than 2 times for an obese person.[38] There is a correlation between iodine deficiency and gastric cancer.[40][41][42]
### Genetics[edit]
About 10% of cases run in families and between 1% and 3% of cases are due to genetic syndromes inherited from a person's parents such as hereditary diffuse gastric cancer.[2]
A genetic risk factor for gastric cancer is a genetic defect of the CDH1 gene known as hereditary diffuse gastric cancer (HDGC). The CDH1 gene, which codes for E-cadherin, lies on the 16th chromosome.[43] When the gene experiences a particular mutation, gastric cancer develops through a mechanism that is not fully understood.[43] This mutation is considered autosomal dominant meaning that half of a carrier's children will likely experience the same mutation.[43] Diagnosis of hereditary diffuse gastric cancer usually takes place when at least two cases involving a family member, such as a parent or grandparent, are diagnosed, with at least one diagnosed before the age of 50.[43] The diagnosis can also be made if there are at least three cases in the family, in which case age is not considered.[43]
The International Cancer Genome Consortium is leading efforts to identify genomic changes involved in stomach cancer.[44][45] A very small percentage of diffuse-type gastric cancers (see Histopathology below) arise from an inherited abnormal CDH1 gene. Genetic testing and treatment options are available for families at risk.[46]
### Other[edit]
Other risks include diabetes,[47] pernicious anemia,[32] chronic atrophic gastritis,[48] Menetrier's disease (hyperplastic, hypersecretory gastropathy),[49] and intestinal metaplasia.[50]
## Diagnosis[edit]
To find the cause of symptoms, the doctor asks about the patient's medical history, does a physical exam, and may order laboratory studies. The patient may also have one or all of the following exams:
* Gastroscopic exam is the diagnostic method of choice. This involves insertion of a fibre optic camera into the stomach to visualise it.[32]
* Upper GI series (may be called barium roentgenogram).
* Computed tomography or CT scanning of the abdomen may reveal gastric cancer. It is more useful to determine invasion into adjacent tissues or the presence of spread to local lymph nodes. Wall thickening of more than 1 cm that is focal, eccentric and enhancing favours malignancy.[51]
In 2013, Chinese and Israeli scientists reported a successful pilot study of a breathalyzer-style breath test intended to diagnose stomach cancer by analyzing exhaled chemicals without the need for an intrusive endoscopy.[52] A larger-scale clinical trial of this technology was completed in 2014.[53]
Abnormal tissue seen in a gastroscope examination will be biopsied by the surgeon or gastroenterologist. This tissue is then sent to a pathologist for histological examination under a microscope to check for the presence of cancerous cells. A biopsy, with subsequent histological analysis, is the only sure way to confirm the presence of cancer cells.[32]
Various gastroscopic modalities have been developed to increase yield of detected mucosa with a dye that accentuates the cell structure and can identify areas of dysplasia. Endocytoscopy involves ultra-high magnification to visualise cellular structure to better determine areas of dysplasia. Other gastroscopic modalities such as optical coherence tomography are being tested investigationally for similar applications.[54]
A number of cutaneous conditions are associated with gastric cancer. A condition of darkened hyperplasia of the skin, frequently of the axilla and groin, known as acanthosis nigricans, is associated with intra-abdominal cancers such as gastric cancer. Other cutaneous manifestations of gastric cancer include tripe palms (a similar darkening hyperplasia of the skin of the palms) and the Leser-Trelat sign, which is the rapid development of skin lesions known as seborrheic keratoses.[55]
Various blood tests may be done including a complete blood count (CBC) to check for anaemia, and a fecal occult blood test to check for blood in the stool.
### Histopathology[edit]
* Gastric adenocarcinoma is a malignant epithelial tumour, originating from glandular epithelium of the gastric mucosa. Stomach cancers are about 90% adenocarcinomas.[56] Histologically, there are two major types of gastric adenocarcinoma (Lauren classification): intestinal type or diffuse type. Adenocarcinomas tend to aggressively invade the gastric wall, infiltrating the muscularis mucosae, the submucosa and then the muscularis propria. Intestinal type adenocarcinoma tumour cells describe irregular tubular structures, harbouring pluristratification, multiple lumens, reduced stroma ("back to back" aspect). Often, it associates intestinal metaplasia in neighbouring mucosa. Depending on glandular architecture, cellular pleomorphism and mucosecretion, adenocarcinoma may present 3 degrees of differentiation: well, moderate and poorly differentiated. Diffuse type adenocarcinoma (mucinous, colloid, linitis plastica or leather-bottle stomach) tumour cells are discohesive and secrete mucus, which is delivered in the interstitium, producing large pools of mucus/colloid (optically "empty" spaces). It is poorly differentiated. If the mucus remains inside the tumour cell, it pushes the nucleus to the periphery: "signet-ring cell".
* Around 5% of gastric cancers are lymphomas.[57] These may include extranodal marginal zone B-cell lymphomas (MALT type)[58] and to a lesser extent diffuse large B-cell lymphomas.[59] MALT type make up about half of stomach lymphomas.[15]
* Carcinoid and stromal tumors may occur.
* Poor to moderately differentiated adenocarcinoma of the stomach. H&E stain.
* Gastric signet ring cell carcinoma. H&E stain.
* Adenocarcinoma of the stomach and intestinal metaplasia. H&E stain.
### Staging[edit]
T stages of stomach cancer
If cancer cells are found in the tissue sample, the next step is to stage, or find out the extent of the disease. Various tests determine whether the cancer has spread and, if so, what parts of the body are affected. Because stomach cancer can spread to the liver, the pancreas, and other organs near the stomach as well as to the lungs, the doctor may order a CT scan, a PET scan,[60] an endoscopic ultrasound exam, or other tests to check these areas. Blood tests for tumor markers, such as carcinoembryonic antigen (CEA) and carbohydrate antigen (CA) may be ordered, as their levels correlate to extent of metastasis, especially to the liver, and the cure rate.
Staging may not be complete until after surgery. The surgeon removes nearby lymph nodes and possibly samples of tissue from other areas in the abdomen for examination by a pathologist.
The clinical stages of stomach cancer are:[61][62]
* Stage 0. Limited to the inner lining of the stomach. Treatable by endoscopic mucosal resection when found very early (in routine screenings); otherwise by gastrectomy and lymphadenectomy without need for chemotherapy or radiation.
* Stage I. Penetration to the second or third layers of the stomach (Stage 1A) or to the second layer and nearby lymph nodes (Stage 1B). Stage 1A is treated by surgery, including removal of the omentum. Stage 1B may be treated with chemotherapy (5-fluorouracil) and radiation therapy.
* Stage II. Penetration to the second layer and more distant lymph nodes, or the third layer and only nearby lymph nodes, or all four layers but not the lymph nodes. Treated as for Stage I, sometimes with additional neoadjuvant chemotherapy.
* Stage III. Penetration to the third layer and more distant lymph nodes, or penetration to the fourth layer and either nearby tissues or nearby or more distant lymph nodes. Treated as for Stage II; a cure is still possible in some cases.
* Stage IV. Cancer has spread to nearby tissues and more distant lymph nodes, or has metastasized to other organs. A cure is very rarely possible at this stage. Some other techniques to prolong life or improve symptoms are used, including laser treatment, surgery, and/or stents to keep the digestive tract open, and chemotherapy by drugs such as 5-fluorouracil, cisplatin, epirubicin, etoposide, docetaxel, oxaliplatin, capecitabine or irinotecan.[14]
Stomach cancer metastasized to the lungs
The TNM staging system is also used.[63]
In a study of open-access endoscopy in Scotland, patients were diagnosed 7% in Stage I 17% in Stage II, and 28% in Stage III.[64] A Minnesota population was diagnosed 10% in Stage I, 13% in Stage II, and 18% in Stage III.[65] However, in a high-risk population in the Valdivia Province of southern Chile, only 5% of patients were diagnosed in the first two stages and 10% in stage III.[66]
## Prevention[edit]
Getting rid of H. pylori in those who are infected decreases the risk of stomach cancer, at least in those who are Asian.[67] A 2014 meta-analysis of observational studies found that a diet high in fruits, mushrooms, garlic, soybeans, and green onions was associated with a lower risk of stomach cancer in the Korean population.[68] Low doses of vitamins, especially from a healthy diet, decrease the risk of stomach cancer.[69] A previous review of antioxidant supplementation did not find supporting evidence and possibly worse outcomes.[70][71]
## Management[edit]
Cancer of the stomach is difficult to cure unless it is found at an early stage (before it has begun to spread). Unfortunately, because early stomach cancer causes few symptoms, the disease is usually advanced when the diagnosis is made.[72]
Treatment for stomach cancer may include surgery,[73] chemotherapy,[14] or radiation therapy.[74] New treatment approaches such as immunotherapy or gene therapy and improved ways of using current methods are being studied in clinical trials.[75]
### Surgery[edit]
Anatomy before Roux-en-y surgery to resect stomach cancer.
Surgery remains the only curative therapy for stomach cancer.[6] Of the different surgical techniques, endoscopic mucosal resection (EMR) is a treatment for early gastric cancer (tumor only involves the mucosa) that was pioneered in Japan and is available in the United States at some centers.[6] In this procedure, the tumor, together with the inner lining of stomach (mucosa), is removed from the wall of the stomach using an electrical wire loop through the endoscope. The advantage is that it is a much smaller operation than removing the stomach.[6] Endoscopic submucosal dissection (ESD) is a similar technique pioneered in Japan, used to resect a large area of mucosa in one piece.[6] If the pathologic examination of the resected specimen shows incomplete resection or deep invasion by tumor, the patient would need a formal stomach resection.[6] A 2016 Cochrane review found low quality evidence of no difference in short-term mortality between laparoscopic and open gastrectomy (removal of stomach), and that benefits or harms of laparoscopic gastrectomy cannot be ruled out.[76] Post-operatively, up to 70% of people undergoing total gastrectomy develop complications such as dumping syndrome and reflux esophagitis.[77] Construction of a "pouch", which serves as a "stomach substitute", reduced the incidence of dumping syndrome and reflux esophagitis by 73% and 63% respectively, and led to improvements in quality-of-life, nutritional outcomes, and body mass index.[77]
Those with metastatic disease at the time of presentation may receive palliative surgery and while it remains controversial, due to the possibility of complications from the surgery itself and the fact that it may delay chemotherapy the data so far is mostly positive, with improved survival rates being seen in those treated with this approach.[6][78]
### Chemotherapy[edit]
The use of chemotherapy to treat stomach cancer has no firmly established standard of care.[14] Unfortunately, stomach cancer has not been particularly sensitive to these drugs, and chemotherapy, if used, has usually served to palliatively reduce the size of the tumor, relieve symptoms of the disease and increase survival time.[14] Some drugs used in stomach cancer treatment have included: 5-FU (fluorouracil) or its analog capecitabine, BCNU (carmustine), methyl-CCNU (semustine) and doxorubicin (Adriamycin), as well as mitomycin C, and more recently cisplatin and taxotere, often using drugs in various combinations.[14] The relative benefits of these different drugs, alone and in combination, are unclear.[79][14] Clinical researchers are exploring the benefits of giving chemotherapy before surgery to shrink the tumor, or as adjuvant therapy after surgery to destroy remaining cancer cells.[6]
### Targeted therapy[edit]
Recently, treatment with human epidermal growth factor receptor 2 (HER2) inhibitor, trastuzumab, has been demonstrated to increase overall survival in inoperable locally advanced or metastatic gastric carcinoma over-expressing the HER2/neu gene.[6] In particular, HER2 is overexpressed in 13–22% of patients with gastric cancer.[75][80] Of note, HER2 overexpression in gastric neoplasia is heterogeneous and comprises a minority of tumor cells (less than 10% of gastric cancers overexpress HER2 in more than 5% of tumor cells). Hence, this heterogeneous expression should be taken into account for HER2 testing, particularly in small samples such as biopsies, requiring the evaluation of more than one bioptic sample.[80]
### Radiation[edit]
Radiation therapy (also called radiotherapy) may be used to treat stomach cancer, often as an adjuvant to chemotherapy and/or surgery.[6]
### Lymphoma[edit]
Lymphoma of the MALT type can often be fully treated by treating an underlying H. pylori infection.[15] This results in remission in about 80% of cases.[15]
## Prognosis[edit]
The prognosis of stomach cancer is generally poor, due to the fact the tumour has often metastasised by the time of discovery and the fact that most people with the condition are elderly (median age is between 70 and 75 years) at presentation.[81] The average life expectancy after being diagnosed is around 24 months, and the five-year survival rate for stomach cancer is less than 10 percent.[6]
Almost 300 genes are related to outcomes in stomach cancer with both unfavorable genes where high expression related to poor survival and favorable genes where high expression associated with longer survival times.[82][83] Examples of poor prognosis genes include ITGAV, DUSP1 and P2RX7. [84]
## Epidemiology[edit]
Stomach cancer deaths per million persons in 2012
0–11
12–16
17–24
25–33
34–51
52–76
77–102
103–128
129–175
176–400
Worldwide, stomach cancer is the fifth most-common cancer with 952,000 cases diagnosed in 2012.[16] It is more common both in men and in developing countries.[85][86] In 2012, it represented 8.5% of cancer cases in men, making it the fourth most-common cancer in men.[87] Also in 2012, the number of deaths was 700,000 having decreased slightly from 774,000 in 1990, making it the third-leading cause of cancer-related death (after lung cancer and liver cancer).[88][89]
Less than 5% of stomach cancers occur in people under 40 years of age with 81.1% of that 5% in the age-group of 30 to 39 and 18.9% in the age-group of 20 to 29.[90]
In 2014, stomach cancer resulted in 0.61% of deaths (13,303 cases) in the U.S.[91] In China, stomach cancer accounted for 3.56% of all deaths (324,439 cases).[92] The highest rate of stomach cancer was in Mongolia, at 28 cases per 100,000 people.[93]
In the United Kingdom, stomach cancer is the fifteenth most-common cancer (around 7,100 people were diagnosed with stomach cancer in 2011), and it is the tenth most-common cause of cancer-related deaths (around 4,800 people died in 2012).[94]
Incidence and mortality rates of gastric cancer vary greatly in Africa. The GLOBOCAN system is currently the most widely used method to compare these rates between countries, but African incidence and mortality rates are seen to differ among countries, possibly due to the lack of universal access to a registry system for all countries.[95] Variation as drastic as estimated rates from 0.3/100000 in Botswana to 20.3/100000 in Mali have been observed.[95] In Uganda, the incidence of gastric cancer has increased from the 1960s measurement of 0.8/100000 to 5.6/100000.[95] Gastric cancer, though present, is relatively low when compared to countries with high incidence like Japan and China. One suspected cause of the variation within Africa and between other countries is due to different strains of the Helicobacter pylori bacteria. The trend commonly-seen is that H. pylori infection increases the risk for gastric cancer. However, this is not the case in Africa, giving this phenomenon the name the “African enigma.”[96] Although this bacteria is found in Africa, evidence has supported that different strains with mutations in the bacterial genotype may contribute to the difference in cancer development between African countries and others outside the continent.[96] However, increasing access to health care and treatment measures have been commonly-associated with the rising incidence, particularly in Uganda.[95]
## Other animals[edit]
The stomach is a muscular organ of the gastrointestinal tract that holds food and begins the digestive process by secreting gastric juice. The most common cancers of the stomach are adenocarcinomas but other histological types have been reported. Signs vary but may include vomiting (especially if blood is present), weight loss, anemia, and lack of appetite. Bowel movements may be dark and tarry in nature. In order to determine whether cancer is present in the stomach, special X-rays and/or abdominal ultrasound may be performed. Gastroscopy, a test using an instrument called endoscope to examine the stomach, is a useful diagnostic tool that can also take samples of the suspected mass for histopathological analysis to confirm or rule out cancer. The most definitive method of cancer diagnosis is through open surgical biopsy.[97] Most stomach tumors are malignant with evidence of spread to lymph nodes or liver, making treatment difficult. Except for lymphoma, surgery is the most frequent treatment option for stomach cancers but it is associated with significant risks.
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## External links[edit]
Classification
D
* ICD-10: C16
* ICD-9-CM: 151
* OMIM: 137215
* MeSH: D013274
* DiseasesDB: 12445
External resources
* MedlinePlus: 000223
* eMedicine: med/845
* NCI: Stomach cancer
Wikimedia Commons has media related to Stomach cancer.
* National Cancer Institute Gastric cancer treatment guidelines
* v
* t
* e
Digestive system neoplasia
GI tract
Upper
Esophagus
* Squamous cell carcinoma
* Adenocarcinoma
Stomach
* Gastric carcinoma
* Signet ring cell carcinoma
* Gastric lymphoma
* MALT lymphoma
* Linitis plastica
Lower
Small intestine
* Duodenal cancer
* Adenocarcinoma
Appendix
* Carcinoid
* Pseudomyxoma peritonei
Colon/rectum
* Colorectal polyp: adenoma, hyperplastic, juvenile, sessile serrated adenoma, traditional serrated adenoma, Peutz–Jeghers
Cronkhite–Canada
* Polyposis syndromes: Juvenile
* MUTYH-associated
* Familial adenomatous/Gardner's
* Polymerase proofreading-associated
* Serrated polyposis
* Neoplasm: Adenocarcinoma
* Familial adenomatous polyposis
* Hereditary nonpolyposis colorectal cancer
Anus
* Squamous cell carcinoma
Upper and/or lower
* Gastrointestinal stromal tumor
* Krukenberg tumor (metastatic)
Accessory
Liver
* malignant: Hepatocellular carcinoma
* Fibrolamellar
* Hepatoblastoma
* benign: Hepatocellular adenoma
* Cavernous hemangioma
* hyperplasia: Focal nodular hyperplasia
* Nodular regenerative hyperplasia
Biliary tract
* bile duct: Cholangiocarcinoma
* Klatskin tumor
* gallbladder: Gallbladder cancer
Pancreas
* exocrine pancreas: Adenocarcinoma
* Pancreatic ductal carcinoma
* cystic neoplasms: Serous microcystic adenoma
* Intraductal papillary mucinous neoplasm
* Mucinous cystic neoplasm
* Solid pseudopapillary neoplasm
* Pancreatoblastoma
Peritoneum
* Primary peritoneal carcinoma
* Peritoneal mesothelioma
* Desmoplastic small round cell tumor
Authority control
* GND: 4036951-1
* LCCN: sh85128258
* NDL: 00563908
*[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-aminobutyric 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
|
Stomach cancer
|
c0038356
| 26,558 |
wikipedia
|
https://en.wikipedia.org/wiki/Stomach_cancer
| 2021-01-18T18:53:29 |
{"gard": ["7704"], "mesh": ["D013274"], "umls": ["C0038356"], "orphanet": ["63443"], "wikidata": ["Q189588"]}
|
## Summary
### Clinical characteristics.
PIK3CA-associated segmental overgrowth includes disorders of brain (e.g., MCAP [megalencephaly-capillary malformation] syndrome, hemimegalencephaly); and segmental body overgrowth (e.g., CLOVES [congenital lipomatous asymmetric overgrowth of the trunk, lymphatic, capillary, venous, and combined-type vascular malformations, epidermal nevi, skeletal and spinal anomalies] syndrome, fibroadipose hyperplasia [FH]). Heterozygous (usually somatic mosaic) pathogenic variants of PIK3CA are causative.
MCAP syndrome is characterized by the major findings of (1) megalencephaly (MEG) or hemimegalencephaly (HMEG) associated with neurologic findings of hypotonia, seizures, and mild to severe intellectual disability; and (2) cutaneous capillary malformations with focal or generalized somatic overgrowth. Additional findings can include digital anomalies (syndactyly, polydactyly), cortical malformations – most distinctively polymicrogyria (PMG); and variable connective tissue dysplasia.
CLOVES (or CLOVE) syndrome and fibroadipose hyperplasia (FH) may be associated with (1) MEG or HMEG; and (2) patchy segmental overgrowth associated with skeletal anomalies, lipomatosis, vascular malformations, and epidermal nevi.
### Diagnosis/testing.
PIK3CA-associated segmental overgrowth is confirmed in an individual with a pathogenic variant on one PIK3CA allele, typically in affected tissues. Because the vast majority of PIK3CA pathogenic variants arise postzygotic (and are thus mosaic), more than one tissue may need to be tested. Failure to detect a PIK3CA pathogenic variant does not exclude a clinical diagnosis of the PIK3CA-associated segmental overgrowth disorders in individuals with suggestive features.
### Management.
Treatment of manifestations: Significant or lipomatous segmental overgrowth may require debulking; scoliosis and leg-length discrepancy may require orthopedic care and surgical intervention. Neurologic complications (e.g., obstructive hydrocephalus, increased intracranial pressure, progressive and/or symptomatic cerebellar tonsillar ectopia or Chiari malformation; epilepsy in those with HMEG) may warrant neurosurgical intervention. Routine treatment of the following, when present, is indicated: cardiac and renal abnormalities; intellectual disabilities and behavior problems; motor difficulties; speech, swallowing, and feeding difficulties.
Surveillance:
* MCAP syndrome: Follow up no less than every six months until age six years and at least yearly thereafter to monitor for neurosurgical complications, breathing or sleep disorders, seizures and orthopedic complications. Provisionally recommended imaging in early childhood includes brain MRI every six months for the first two years, then yearly until age eight years for neurologic complications (e.g., hydrocephalus, cerebellar tonsillar ectopia). Consider screening for Wilms tumor following the protocol suggested for Beckwith-Wiedemann syndrome (BWS) (by ultrasound examination every 3 months until age 8 years); however, tumor risk in PIK3CA-related segmental overgrowth is undetermined and appears to be lower than in BWS.
* CLOVES syndrome and FH: Monitoring for severe scoliosis, infiltrative lipomatous overgrowth, paraspinal high-flow lesions with spinal cord ischemia, lymphatic malformations, cutaneous vesicles, orthopedic problems, central phlebectasias, and thromboembolism.
### Genetic counseling.
PIK3CA-associated segmental overgrowth is not typically inherited. Most affected individuals with MCAP reported to date (21/24) had somatic mosaicism for pathogenic variants in PIK3CA, suggesting that mutation occurred post-fertilization in one cell of the multicellular embryo. Two of 24 affected individuals had a de novo germline pathogenic variant in PIK3CA. All reported individuals with CLOVES and FH had somatic mosaicism for pathogenic variants in PIK3CA. No confirmed instances of vertical transmission or sib recurrence have been reported. Because family members are not known to have an increased risk, prenatal diagnosis is usually not indicated for family members.
## Diagnosis
PIK3CA-associated segmental overgrowth includes brain (e.g., megalencephaly-capillary [MCAP] malformation syndrome, hemimegalencephaly) and segmental body overgrowth (e.g., CLOVES syndrome, fibroadipose hyperplasia [FH]) caused by heterozygous (usually somatic mosaic) PIK3CA pathogenic variants.
### Suggestive Findings
PIK3CA-associated segmental overgrowth is suspected in an individual with clinical features of the following syndromes. Of note, some individuals with low-level mosaicism for PIK3CA somatic pathogenic variants may have phenotypes that do not meet clinical diagnostic criteria.
Megalencephaly-capillary malformation (MCAP) syndrome (Table 1) (Figure 1 and Figure 2) is characterized by the major findings (1) megalencephaly (MEG) (Figure 3) or hemimegalencephaly (HMEG) associated with abnormalities of muscle tone, seizures, and mild to severe intellectual disability, and (2) cutaneous capillary malformations with focal or generalized somatic overgrowth. Additional findings can include digital anomalies consisting of syndactyly and polydactyly; cortical malformations, most distinctively polymicrogyria (PMG) (Figure 3); and variable connective tissue dysplasia [Franceschini et al 2000, Robertson et al 2000, Giuliano et al 2004, Lapunzina et al 2004, Wright et al 2009, Martínez-Glez et al 2010, Mirzaa et al 2012].
#### Figure 1.
Features of MCAP syndrome. Photographs of an individual with MCAP syndrome demonstrating the apparent macrocephaly with prominent forehead (D); extensive capillary malformations (A-F1); bilateral 2-3-4 toe syndactyly (G,H); 3-4 finger syndactyly (F1,F2); (more...)
#### Figure 2.
Features of MCAP syndrome. A boy age 40 months with MCAP syndrome (left) and his unaffected twin sister (right). Note left-sided hemihypertrophy, typical facial features, bilateral 2-3 toe syndactyly, and connective tissue dysplasia with loose redundant (more...)
#### Figure 3.
Characteristic brain MRI of MCAP syndrome in three individuals (A-D, E-H, and I-L). Note: Megalencephaly with a prominent forehead (A, E, I); cerebellar tonsillar ectopia with a large cerebellum and crowded posterior fossa (A, E, I); ventriculomegaly (more...)
Hemimegalencephaly (HMEG) is characterized by partial or complete enlargement and dysplasia of a cerebral hemisphere, often with variable contralateral involvement. Complex abnormalities (typically noted on brain imaging) include cortical dysgenesis, abnormally increased white matter, and dilated and dysmorphic lateral ventricles [Barkovich & Chuang 1990, Flores-Sarnat 2002, Flores-Sarnat et al 2003].
### Table 1.
Findings in MCAP Syndrome
View in own window
Finding
MajorSupportiveSecondary
Early segmental
overgrowth
(brain > somatic
tissues)Progressive MEG or HMEG 1
* Ventriculomegaly or hydrocephalus
* Cerebellar tonsillar ectopia or Chiari malformation
* Abnormally thick (mega-) corpus callosum
* Congenital somatic overgrowth (generalized/focal)
* Somatic or cranial asymmetry
* Hypotonia
* DD
* Distinctive facial features: frontal bossing & dolichocephaly
Developmental
vascular
disorders
(abnormal
vasculogenesis)Cutaneous capillary malformations: 1
* Midline face (esp. persistent nevus flammeus)
* Body: widespread (or rarely vivid cutis marmorata)
* Venous aneurysms / prominent venous pattern
* Aberrant vasculature / vascular rings
Digital anomaliesSyndactyly (2-3, 3-4, 2-3-4):
* Toes: 2-3 > others
* Fingers: 3-4 > others
* Postaxial polydactyly
* Polysyndactyly
* Sandal-gap toes
Cortical brain
malformationsPMG
* Seizures
* DD
Connective tissue
dysplasia
* Skin hyperelasticity
* Joint hypermobility
* Thick, soft, (or "doughy") subcutaneous tissue
* Hypotonia
* Gross DD
DD = developmental delay; HMEG = hemimegalencephaly; MEG = megalencephaly; PMG = polymicrogyria
Based on Franceschini et al [2000], Robertson et al [2000], Giuliano et al [2004], Lapunzina et al [2004], Wright et al [2009], Martínez-Glez et al [2010]
1\.
MCAP syndrome can be diagnosed based on clinical findings in individuals with classic features of MEG or HMEG (major finding 1) and characteristic capillary malformations (major finding 2).
CLOVES (or CLOVE) syndrome and fibroadipose hyperplasia (Table 2) may be associated with MEG or HMEG, and thus overlap with MCAP syndrome [Gucev et al 2008]. Findings include patchy segmental overgrowth associated with skeletal anomalies, lipomatosis, vascular malformations, and epidermal nevi. Given the clinical and molecular genetic overlap between CLOVES syndrome and fibroadipose hyperplasia, these two conditions may constitute a single large spectrum of somatic overgrowth.
CLOVES syndrome is characterized by congenital lipomatous asymmetric overgrowth of the trunk, lymphatic, capillary, venous, and combined-type vascular malformations, epidermal nevi, skeletal and spinal anomalies. CLOVES syndrome differs from MCAP syndrome by more striking growth dysregulation with complex congenital overgrowth of lipomatous tissues (typically manifest as a truncal lipomatous mass) and combined lymphatic and vascular malformations (Figure 4A). Skeletal anomalies include scoliosis, wide hands and feet, macrodactyly (Figure 4B), and prominent sandal-gap toes [Sapp et al 2007, Alomari 2009a].
#### Figure 4.
Features of CLOVES syndrome in a child with (A) a large lipomatous truncal mass that extends into the surrounding tissues and an overlying capillary malformation and (B) macrodactyly of the left foot
Fibroadipose hyperplasia, a severe overgrowth syndrome recently described in ten individuals with mosaic PIK3CA pathogenic variants [Lindhurst et al 2012], is characterized by progressive segmental overgrowth of visceral, subcutaneous, muscular, fibroadipose, and skeletal tissues, and may involve the trunk or extremities. Other variable features include lipomatous infiltration of muscle, progressive adipose dysregulation and regional lipohypoplasia, vascular malformations, testicular abnormalities, and polydactyly.
### Table 2.
Classic Features of CLOVES Syndrome and Fibroadipose Hyperplasia
View in own window
FeatureCLOVES SyndromeFibroadipose Hyperplasia 1
Overgrowth
* Lipomatous overgrowth (typically truncal, complex, congenital, progressive)
* Spinal-paraspinal extension
* Limb & digital overgrowth
* Bony overgrowth, leg-length discrepancy
* Visceral, subcutaneous, muscular fibroadipose, & skeletal tissues (congenital, progressive; may involve trunk or extremities)
* Lipomatous infiltration of muscle (in 6/10)
* Disproportionate linear overgrowth (in 10/10)
Cutaneous &
vascular
malformations
* Low-flow (capillary, venous, lymphatic; typically overlying truncal overgrowth)
* High-flow (arteriovenous; esp. spinal-paraspinal)
* Venous thrombosis/embolism
* Epidermal nevi (single/multiple)
* Vascular malformation (in 2/10)
* Epidermal nevi (in 2/10)
Musculoskeletal/
acral
abnormalities
* Scoliosis
* Chondromalacia patellae
* Dislocated knees
* Macrodactyly, wide hands/feet
* Sandal gap toes
* Symmetric overgrowth of feet
* Plantar-palmar overgrowth
* Progressive skeletal overgrowth (preserved architecture)
* Polydactyly
Visceral
abnormalities
* Renal agenesis/hypoplasia
* Splenic lesions
* Testicular or epididymal cysts & hydrocele (in 3/10)
* Non-spleen / thymus visceral overgrowth (in 1/10)
Neurologic
abnormalities
* Neural tube defect
* Tethered cord
* Megalencephaly / hemimegalencephaly
* Chiari malformation
* Polymicrogyria
Other
* Regional lipohypoplasia
* Progressive adipose dysregulation
1\.
Features variably identified in ten affected individuals
### Establishing the Diagnosis
PIK3CA-associated segmental overgrowth is confirmed in an individual with a pathogenic variant on one PIK3CA allele who meets clinical criteria. In an individual with ambiguous or mild clinical findings [Kurek et al 2012, Lindhurst et al 2012, Rivière et al 2012] (Table 3), identification of a PIK3CA pathogenic variant establishes the diagnosis of PIK3CA-associated segmental overgrowth.
Because the vast majority of reported PIK3CA pathogenic variants are postzygotic (and thus mosaic), more than one tissue may need to be tested.
* Experience suggests that sequence analysis of DNA derived from saliva or skin (whether visibly affected or not) has a higher detection rate than of peripheral blood-derived DNA.
* In highly focal disorders such as HMEG, CLOVES, and fibroadipose hyperplasia, pathogenic variants are only detectable in affected tissues. Therefore, absence of a pathogenic variant in a DNA sample is insufficient to exclude the diagnosis [Kurek et al 2012, Lee et al 2012, Lindhurst et al 2012].
* Failure to detect a PIK3CA pathogenic variant does not exclude a clinical diagnosis of PIK3CA-associated segmental overgrowth disorders in individuals with suggestive features, given that low-level mosaicism is observed in many individuals. Furthermore, locus heterogeneity is a possibility (see Differential Diagnosis).
* Sensitivity to detect low-level mosaicism of a PIK3CA pathogenic variant is theoretically greatest using massively parallel sequencing (also known as next-generation sequencing) in tissues other than blood, and in particular will be of high yield when analyzing affected tissues in disorders other than MCAP syndrome.
### Table 3.
Molecular Genetic Testing Used in PIK3CA-associated Segmental Overgrowth
View in own window
Gene 1MethodVariants Detected 2Pathogenic Variant Detection Frequency by Method 3
PIK3CASequence analysis 4Sequence variants 5Dependent on phenotype, tissue analyzed, and method 6, 7, 8
1\.
See Table A. Genes and Databases for chromosome locus and protein.
2\.
See Molecular Genetics for information on allelic variants.
3\.
The ability of the test method used to detect a variant that is present in the indicated gene
4\.
Sequence analysis detects variants that are benign, likely benign, of uncertain significance, likely pathogenic, or pathogenic. Pathogenic variants may include small intragenic deletions/insertions and missense, nonsense, and splice site variants; typically, exon or whole-gene deletions/duplications are not detected. For issues to consider in interpretation of sequence analysis results, click here.
5\.
Most identified PIK3CA pathogenic variants to date are missense, with only a single in-frame 3-bp deletion identified in MCAP syndrome [Rivière et al 2012]. No nonsense or splice site variants, large deletions, or duplications involving PIK3CA have been identified to date.
6\.
For MCAP syndrome: 21/24 individuals had somatic mosaicism for a PIK3CA pathogenic variant; 2/24 had a de novo PIK3CA germline variant; and 1/24 had inconclusive results with only one sample available for testing [Rivière et al 2012]. The level of mosaicism varied by the tissue being tested and ranged from 1% to 48%. In individuals in whom three or more tissues were analyzed, blood was the tissue in which the lowest level of mosaicism was observed [Rivière et al 2012]. The level of mosaicism was below 25% in 15 of 18 (83%) samples of blood-derived DNA and in 11 of 22 (45%) samples of saliva- or skin-derived DNA. Detection of these pathogenic variants was facilitated by massively parallel sequencing and would likely have been missed by standard Sanger sequence analysis.
7\.
For CLOVES, FH, HMEG: Pathogenic variants were identified in affected tissues (including brain in hemimegalencephaly) with mutated allele frequencies ranging from 1% to 49% overall. The pathogenic variants were not identified in DNA derived from blood (or, in some studies, from either blood or saliva) [Kurek et al 2012, Lee et al 2012, Lindhurst et al 2012].
8\.
For HMEG: The same PIK3CA pathogenic variant (c.1633G>A) was identified in four brain samples of affected individuals.
## Clinical Characteristics
## Differential Diagnosis
A number of overgrowth and megalencephaly disorders overlap with the PIK3CA-associated segmental overgrowth syndromes, including the following.
Hemimegalencephaly (HMEG) is characterized by enlargement and dysplasia of all or part of a cerebral hemisphere. In addition to CLOVES syndrome (discussed in this GeneReview), it can be isolated but has also been reported in association with disorders of focal somatic overgrowth and/or vascular malformations such as Klippel Trenauany syndrome, hypomelanosis of Ito, Proteus syndrome, linear nevus sebaceous syndrome, tuberous sclerosis complex, and nevoid basal cell carcinoma [Abdelhalim et al 2003, Sharma et al 2009, Pavlidis et al 2012]. Besides PIK3CA, mosaic pathogenic variants in other genes of the PI3K-AKT pathway (see Molecular Pathogenesis), including AKT3 and MTOR, have been identified in brain tissue from individuals with HMEG [Lee et al 2012, Poduri et al 2012].
Megalencephaly-polymicrogyria-polydactyly-hydrocephalus (MPPH) syndrome was first described in 2004 and has since been reported in 29 individuals [Mirzaa et al 2004, Colombani et al 2006, Garavelli et al 2007, Tohyama et al 2007, Pisano et al 2008, Tore et al 2009, Osterling et al 2011, Kariminejad et al 2013]. This disorder is characterized by significant, and most often congenital, megalencephaly (MEG), bilateral perisylvian polymicrogyria (PMG), postaxial polydactyly, and an increased risk for hydrocephalus. While its four core features, and primarily the neuroimaging manifestations, overlap with MCAP syndrome [Gripp et al 2009], MPPH syndrome can be primarily distinguished by the absence of vascular malformations, focal somatic overgrowth, and connective tissue dysplasia [Verkerk et al 2010]. De novo germline pathogenic variants in PIK3R2 and AKT3, two other core components of the PI3K-AKT pathway, have been identified in MPPH syndrome [Rivière et al 2012].
Klippel-Trenaunay syndrome (KTS) is characterized by disproportionate growth disturbance combined with cutaneous capillary, lymphatic, and venous malformations. KTS typically involves the lower extremities but may affect the upper extremities and may be bilateral. The findings are typically focal and usually spare the craniofacial region, distinguishing it from the more generalized overgrowth observed in PI3KCA-related segmental overgrowth syndromes [Oduber et al 2011].
Bannayan-Riley-Ruvalcaba syndrome (BRRS), the most severe end of the PTEN-related overgrowth spectrum, is characterized by macrocephaly, developmental delay, lipomatosis, intestinal hamartomatous polyposis, and pigmented macules of the penis. While capillary malformations have been seen in BRRS, they are typically isolated and not similar to the capillary malformations in MCAP syndrome. Furthermore, BRRS lacks the significant overgrowth (particularly the truncal lipomatous overgrowth), acral deformities, and other characteristic features of CLOVES syndrome and fibroadipose hyperplasia. BRRS is caused by germline pathogenic variants in PTEN. Most individuals with BRRS have normal intelligence.
Proteus syndrome, a severe overgrowth syndrome, is associated with disproportionate and asymmetric postnatal somatic overgrowth including skeletal overgrowth, cerebriform connective tissue nevi (CCTN), epidermal nevi, dysregulated adipose tissue, and vascular malformations. Proteus syndrome can be primarily distinguished from CLOVES syndrome and fibroadipose hyperplasia by the postnatal onset of overgrowth. Furthermore, Proteus syndrome lacks the characteristic truncal fatty-vascular mass, spinal paraspinal fast-flow lesions and the acral abnormalities characteristic of CLOVES syndrome [Biesecker et al 1999]. Severely deforming and progressive skeletal overgrowth and poor prognosis occur in both disorders. Mosaic pathogenic variants in AKT1 were identified in affected tissues of individuals with Proteus syndrome [Lindhurst et al 2011].
Hemihyperplasia-multiple lipomatosis (HHML) syndrome, a distinct milder form of overgrowth, is characterized by moderate somatic asymmetry and overgrowth with subcutaneous lipomas and occasional vascular malformations, but lacks deep vascular malformations, epidermal nevi, cerebriform connective tissue nevi (CCTN), and hyperostosis. HHML syndrome may overlap with CLOVES syndrome given that overgrowth can be progressive and spinal complications and scoliosis have been reported [Lindhurst et al 2012].
SOLAMEN syndrome is characterized by atypical features of Cowden syndrome including segmental overgrowth, lipomatosis, arteriovenous malformation, and epidermal nevi. It is also associated with tumors such as ovarian cystadenoma, multiple breast tumors, and thyroid adenomas. Fibrocystic breast disease, gingival papules, and multinodular goiter have also been reported. SOLAMEN syndrome results from biallelic inactivation of PTEN (type 2 mosaicism), restricted to the atypical lesions [Caux et al 2007]. (See PTEN Hamartoma Tumor Syndrome.)
## Management
### Evaluations Following Initial Diagnosis
To establish the extent of disease and needs of an individual with PIK3CA-associated segmental overgrowth, the following evaluations are recommended:
* A thorough history to identify key features of PIK3CA-associated segmental overgrowth
* A physical examination including a thorough skin, cardiac, abdominal, and musculoskeletal evaluation, as well as a detailed neurologic assessment
* Investigations to detect abnormalities before they result in significant morbidity/mortality:
* Baseline brain and spinal cord imaging, especially in children with hemimegalencephaly (HMEG) and MCAP syndrome for early detection of cortical dysplasia, ventriculomegaly, and cerebellar tonsillar ectopia.
* A cardiovascular assessment including a baseline echocardiogram and electrocardiogram to evaluate for cardiovascular malformations and rhythm abnormalities
* A baseline renal ultrasound to evaluate for structural renal abnormalities
* Surgical and orthopedic referrals for individuals suspected of having CLOVES syndrome or fibroadipose hyperplasia, and individuals with MCAP syndrome with focal somatic overgrowth or leg-length discrepancy
### Treatment of Manifestations
Patients with PIK3CA-associated segmental overgrowth benefit from a coordinated and multidisciplinary clinical approach tailored to the individual's specific needs and manifestations.
Referral to the appropriate specialist(s) is recommended for the following findings:
* Significant or lipomatous segmental overgrowth: referral to a surgeon and/or thoracic surgeon (when lipomatous overgrowth involves the trunk)
* Leg-length discrepancy secondary to segmental somatic overgrowth
* Cardiac abnormalities (i.e., structural cardiovascular disease and arrhythmias)
* Renal abnormalities
* Intellectual disability and/or difficulties with learning, behavior, or speech, or motor difficulties
* Speech, swallowing, and feeding difficulties
Neurologic and neurosurgical manifestations
* MCAP syndrome. Findings warranting neurosurgical referral include rapidly enlarging OFC, obstructive hydrocephalus, symptoms of raised intracranial pressure, and progressive or symptomatic cerebellar tonsillar ectopia (CBTE) or Chiari malformation. Early treatment of hydrocephalus may reduce the risk for progressive CBTE, but data are lacking to determine the most appropriate neurosurgical management. In recent years, favorable outcomes have been observed with ventriculostomy of the third ventricle (rather than insertion of a ventriculo-peritoneal shunt), suggesting that the neurosurgical management of hydrocephalus in MCAP syndrome is evolving.
* HMEG. Individuals are at risk for severe early-onset epilepsy, focal neurologic signs such as hemiparesis, and severe intellectual disability. Epilepsy and intellectual disability may be improved by hemispherectomy [Di Rocco et al 2006, Kwan et al 2008].
* Individuals with HMEG and MCAP syndrome with polymicrogyria (PMG) are at increased risk for epilepsy; thus, long-term neurologic follow up is warranted, and many require long-term antiepileptic treatment [Mirzaa et al 2012].
Somatic overgrowth, vascular, lymphatic and musculoskeletal manifestations. CLOVES syndrome and fibroadipose hyperplasia (FH) are associated with severe focal overgrowth, vascular malformations, and orthopedic complications with significant morbidities. Prompt diagnosis (by MR/CT and angiography) is warranted. Most individuals undergo (often several) debulking or orthopedic procedures with significant ensuing complications (see Surveillance).
The following are the main treatment considerations in CLOVES syndrome:
* The characteristic truncal lipomatous mass infiltrates surrounding tissues and often requires surgical excision. Severe scoliosis, large truncal mass, paraspinal high-flow lesions with spinal cord ischemia, lymphatic malformations, cutaneous vesicles, orthopedic problems of the feet and hands, and central phlebectasia/thromboembolism are examples of significant morbidities that need active or prophylactic medical intervention.
* Paraspinal and intraspinal extension have significant risk for compression of the cord, thecal sac, and nerve roots, with resultant major neurologic deficits, warranting prompt diagnosis and multidisciplinary care [Alomari 2009a].
* Given the risk for thromboembolism in CLOVES syndrome, appropriate prophylactic measures including anticoagulation and caval filtration, particularly in the perioperative period, are recommended. Central and thoracic phlebectasia in individuals with CLOVES syndrome should be considered an indication for placement of a superior vena cava (SVC) filter.
FH is associated with severe progressive overgrowth of fibrous and adipose tissues. While the severity and natural history varied among reported individuals, thorough surgical and orthopedic evaluations are warranted. Most individuals (8/10) underwent extensive debulking or orthopedic procedures.
### Surveillance
MCAP syndrome. Provisional surveillance guidelines include regular follow up, no less than every six months until age six years, and at least yearly thereafter. At each visit, the following are recommended with appropriate testing for any positive finding:
* A medical history with attention to:
* Childhood cancer
* Breathing or sleep problems
* Seizures or other undefined spells, headaches, or new or worsening neurologic symptoms
* A detailed neurologic evaluation
* Brain MRI. Based on limited retrospective data available, the risk for hydrocephalus, cerebellar tonsillar ectopia, or both with low brain stem or high spinal cord compression, appears to be highest in the first two years. Brain MRI is provisionally recommended every six months from birth to age two years, and annually from age two to six years. In older individuals, the frequency should be based on prior results and clinical findings, with particular attention to apnea or other abnormal patterns of respiration, headaches, changes in gait, or other neurologic problems.
* Renal ultrasound. Until additional data are available, screening for Wilms tumor following guidelines developed for Beckwith-Wiedemann syndrome may be considered (i.e., renal ultrasound examination every 3 months until age 8 years).
CLOVES syndrome
* Given the associated morbidities including severe scoliosis, infiltrative lipomatous overgrowth, paraspinal high-flow lesions with spinal cord ischemia, lymphatic malformations, cutaneous vesicles, orthopedic problems, central phlebectasias and thromboembolism, individuals with CLOVES syndrome require surveillance tailored to their specific needs with particular attention to surgical care [Sapp et al 2007, Alomari 2011, Alomari et al 2011].
* Commonly occurring postoperative complications of surgical excision of the truncal lipomatous mass include recurrence, hypervascularity, and infiltrative growth. Therefore, diligent surgical care and monitoring are recommended.
Fibroadipose hyperplasia. Data regarding the natural history of fibroadipose hyperplasia are limited. However, given the extensive degree of somatic overgrowth in most individuals, the same surveillance guidelines for CLOVES are tentatively recommended for individuals with FH [Lindhurst et al 2012].
### 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 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
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*[CPA]: cyproterone acetate
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*[lit.]: literal translation
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*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
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*[[*]]: Article is not yet available in this wiki.
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*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
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*[m.]: married
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*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
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*[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
|
PIK3CA-Related Segmental Overgrowth
|
None
| 26,559 |
gene_reviews
|
https://www.ncbi.nlm.nih.gov/books/NBK153722/
| 2021-01-18T21:06:17 |
{"synonyms": []}
|
A number sign (#) is used with this entry because of evidence that Aicardi-Goutieres syndrome-6 (AGS6) is caused by homozygous or compound heterozygous mutation in the ADAR gene (146920) on chromosome 1q21.
Dyschromatosis symmetrica hereditaria (127400) is an allelic disorder.
For a phenotypic description and a discussion of genetic heterogeneity of Aicardi-Goutieres syndrome, see AGS1 (225750).
Clinical Features
Rice et al. (2012) reported 10 families with 14 children, including 1 set of identical twins, with Aicardi-Goutieres syndrome. The families were of diverse ethnic backgrounds including Norwegian, Italian, Pakistani, Brazilian, Indian, British, Spanish, mixed Italian/Cuban, and European American. Two of the families were consanguineous. Clinical details included intracranial calcification and severe developmental delay in all, leukodystrophy in most, and markedly elevated cerebrospinal fluid (CSF) interferon-alpha (see 147660) in all in whom it was measured.
### Clinical Variability
Livingston et al. (2014) reported 9 patients, including 2 sibs and 2 half-sibs, with refractory dystonia starting between ages 9 months and 5 years. Eight of the patients showed normal psychomotor development before symptom onset; the ninth patient had mild-to-moderate global developmental delay apparent in early infancy. Six of the 9 children presented between 9 and 18 months with acute onset of severe generalized dystonia in the context of a nonspecific febrile illness, such as ear infection, respiratory illness, or viral illness with rash. Clinical features included limb tremor and stiffening, rigidity, loss of previous motor and other developmental skills, and severe dystonia affecting all 4 limbs. These neurologic abnormalities developed and progressed rapidly within several weeks, and were refractory to pharmacologic management. Two additional patients had a slower course, with progressive dystonia and neurologic deterioration over several months. Three patients were retrospectively noted to have cutaneous pigmentation with freckling of the face and hands; only 1 child had vasculitic skin lesions. Brain MRI from 7 patients showed bilateral striatal necrosis, with signal changes in the caudate and putamen, often associated with swelling and later shrinkage. Three patients had evidence of intracranial calcifications, and 1 had findings suggestive of calcification. All 7 patients analyzed had blood evidence of upregulation of interferon-stimulated genes, the so-called interferon signature, even years after symptom onset. Livingston et al. (2014) suggested that the interferon signature may be a reliable screening test for this disorder.
Crow et al. (2014) reported a 5-year-old boy, born of unrelated Hispanic parents, who presented at age 2 years with toe walking and frequent falls associated with slowly progressive spastic paraplegia following normal early psychomotor development. Physical examination showed lower limb spasticity with increased tone, ankle clonus, unilateral extensor plantar response, and spastic diplegic gait. Brain imaging and cognition were normal. Exome sequencing identified a de novo heterozygous mutation in the ADAR1 gene (G1007R; 146920.0011) that had been identified in patients with classic AGS6. Laboratory studies revealed evidence of increased interferon. Crow et al. (2014) emphasized the phenotypic variability associated with AGS, noting that neurologic dysfunction is not always marked in this disorder.
Inheritance
The transmission pattern of AGS6 in the families reported by Rice et al. (2012) was consistent with autosomal recessive inheritance.
Molecular Genetics
By whole-exome sequencing in 4 probands with a diagnosis of Aicardi-Goutieres syndrome in whom mutations in known causative genes had been excluded, Rice et al. (2012) identified compound heterozygous or homozygous mutations in the ADAR1 gene. They sequenced other individuals without known mutations from their AGS cohort and identified a total of 9 distinct mutations, including 1 recurrent missense mutation, pro193 to ala (P193A; 146920.0007). Two unrelated affected individuals harbored a heterozygous de novo missense mutation, gly1007 to arg (G1007R; 146920.0011). This mutation appeared to have a dominant-negative effect. Of the 8 amino acid substitutions identified, 7 involved residues situated in the catalytic domain of ADAR1; 5 of these 7 (arg892, lys999, gly1007, tyr1112, and asp1113) lie along the surface of the protein that interacts with double-stranded RNA, and the 2 others (ala870 and ile872) lie internal to the domain structure and are predicted to destabilize the protein. In contrast, pro193 is positioned within the Z-DNA/Z-RNA-binding domain. In the wildtype protein, pro193 makes direct contact with the nucleic acid, and substitution of this residue with alanine removes important atomic interactions between the protein and DNA/RNA.
Rice et al. (2012) noted that the G1007R mutation in ADAR1 had previously been reported (see 146920.0011) in 2 individuals with dyschromatosis symmetrica hereditaria (DSH; 127400) who also demonstrated neurodegeneration with dystonia and intracranial calcification. The skin lesions typical of DSH had not been reported in AGS (they are distinct from AGS-related chilblains) and no individual with AGS6 had obvious features of DSH. Of note, DSH has only rarely been reported outside of Japan and China. Moreover, marked variability in expression of DSH is well recognized even within families. Rice et al. (2012) remarked that although their findings did not necessarily implicate dysregulation of type 1 interferon in the DSH phenotype, they suggested that missense and null heterozygous mutations in ADAR1 are consistent with both DSH and with carrier or affected status for AGS. Thus, Rice et al. (2012) suggested that the lack of DSH skin features in their AGS cases and their heterozygous parents most likely relates to nonpenetrance and/or variable expressivity due to ancestry or other genetic or nongenetic factors.
In 7 patients, including 2 sibs, with atypical AGS6 presenting as bilateral striatal necrosis with severe dystonia, Livingston et al. (2014) identified compound heterozygous mutations in the ADAR gene (see, e.g., 146920.0007; 146920.0016). Six of the patients carried the P193A mutation on 1 allele. Two additional half-sibs with the disorder were found to carry a heterozygous G1007R missense mutation; the second mutation was likely not detected in these patients. Functional studies of the variants were not performed. No interferon signature was found in 4 children with a similar disorder who did not have ADAR mutations.
INHERITANCE \- Autosomal recessive HEAD & NECK Head \- Microcephaly (in some patients) Eyes \- Nystagmus (in some patients) NEUROLOGIC Central Nervous System \- Delayed development, severe \- Developmental regression (in some patients) \- Tremor \- Stiffness \- Rigidity \- Dystonia, severe (in all limbs) \- Loss of speech \- Loss of ability to walk \- Bilateral striatal necrosis \- Signal changes in the caudate and putamen \- Intracranial calcifications (in some patients) \- Leukodystrophy (in some patients) HEMATOLOGY \- Hemolytic anemia (in some patients) LABORATORY ABNORMALITIES \- Upregulation of alpha-interferon-stimulated genes MISCELLANEOUS \- Onset in infancy or early childhood \- Onset of symptoms often associated with nonspecific febrile illness \- Rapidly progressive deterioration (in some patients) MOLECULAR BASIS \- Caused by mutation in the RNA-specific adenosine deaminase gene (ADAR, 146920.0007 ) ▲ Close
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-aminobutyric 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
|
AICARDI-GOUTIERES SYNDROME 6
|
c0393591
| 26,560 |
omim
|
https://www.omim.org/entry/615010
| 2019-09-22T15:53:27 |
{"doid": ["0050629"], "mesh": ["C535607"], "omim": ["615010"], "orphanet": ["51"], "genereviews": ["NBK1475"]}
|
A number sign (#) is used with this entry because of evidence that retinitis pigmentosa-77 (RP77) is caused by homozygous or compound heterozygous mutation in the REEP6 gene (609346) on chromosome 19p13.
For a general phenotypic description and a discussion of genetic heterogeneity of retinitis pigmentosa, see 268000.
Clinical Features
Arno et al. (2016) examined the probands from 5 unrelated families with autosomal recessive retinitis pigmentosa. All probands presented with nyctalopia, with onset varying from early childhood to 20 years of age. There was a gradual decline in vision, characterized by reduced peripheral visual fields followed by reduced visual acuity. At last review (ages 20 to 54 years), visual acuity ranged from 20/30 to 20/400, and all patients had significantly constricted visual fields, ranging from less than 10 degrees to 30 degrees. Four probands also had posterior subcapsular cataracts that required surgery in 2 cases. Fundus examination revealed attenuated retinal vessels and midperiphery pigmentary mottling due to atrophy of the retinal pigment epithelium; 4 probands also showed intraretinal pigmentary migration ('bone spicules'). OCT imaging of the macula demonstrated outer retinal atrophy with centrally preserved inner segment ellipsoid bands, and 2 probands had cystoid macular edema. Fundus autofluorescence imaging revealed parafoveal rings of increased autofluorescence and widespread loss of autofluorescence in the midperiphery, which showed nummular features in 3 affected individuals. Electrophysiologic testing in 3 probands showed severe generalized retinal dystrophy, with severely reduced or undetectable responses in 2 individuals in their thirties and severe cone-rod dystrophy in 1 patient at age 15 years. Arno et al. (2016) concluded that the clinical findings were consistent with a diagnosis of RP.
Molecular Genetics
By whole-exome sequencing in 2 probands with RP who were negative for mutation in 176 and 226 retinal disease-associated genes, respectively, as well as by whole-genome sequencing in 599 probands with inherited retinal disease and direct Sanger sequencing in a panel of 400 RP-affected individuals who were negative for mutation in 192 known RP-associated genes, Arno et al. (2016) identified affected individuals from 5 families with homozygous or compound heterozygous mutations in the REEP6 gene (see, e.g., 609346.0001-609346.0004).
INHERITANCE \- Autosomal recessive HEAD & NECK Eyes \- Nyctalopia \- Reduced peripheral visual fields, progressive \- Reduced visual acuity, progressive \- Posterior subcapsular cataracts \- Attenuated retinal vessels \- Retinal hypopigmentation, midperipheral \- Retinal pigment epithelium mottling, midperipheral \- Atrophy of retinal pigment epithelium, midperipheral \- Intraretinal pigmentary migration ('bone spicules') \- Outer retinal atrophy on macular seen on OCT \- Centrally preserved inner segment ellipsoid bands seen on OCT \- Cystoid macular edema (in some patients) \- Parafoveal rings of increased autofluorescence \- Widespread midperipheral loss of autofluorescence \- Severe rod-cone dystrophy seen on ERG \- Severely reduced or undetectable responses seen on ERGs in older patients MISCELLANEOUS \- Onset of symptoms ranges from early childhood to age 20 years MOLECULAR BASIS \- Caused by mutation in the receptor expression-enhancing protein-6 gene (REEP6, 609346.0001 ) ▲ 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-aminobutyric 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
|
RETINITIS PIGMENTOSA 77
|
c0035334
| 26,561 |
omim
|
https://www.omim.org/entry/617304
| 2019-09-22T15:46:08 |
{"doid": ["0080350"], "mesh": ["D012174"], "omim": ["617304"], "orphanet": ["791"]}
|
Abdominal compartment syndrome
SpecialtyEmergency medicine
Abdominal compartment syndrome (ACS) occurs when the abdomen becomes subject to increased pressure reaching past the point of intra-abdominal hypertension (IAH). ACS is present when intra-abdominal pressure rises and is sustained at > 20 mmHg and there is new organ dysfunction or failure.[1] ACS is classified into three groups: Primary, secondary and recurrent ACS.[2] It is not a disease and as such it occurs in conjunction with many disease processes, either due to the primary illness or in association with treatment interventions.[3] Specific cause of abdominal compartment syndrome is not known, although some causes can be sepsis and severe abdominal trauma. Increasing pressure reduces blood flow to abdominal organs and impairs pulmonary, cardiovascular, renal, and gastro-intestinal (GI) function, causing multiple organ dysfunction syndrome and death.[4][5][6]
## Contents
* 1 Pathophysiology
* 2 Diagnosis
* 3 Treatment
* 3.1 Operative decompression
* 4 References
* 5 External links
## Pathophysiology[edit]
Abdominal compartment syndrome occurs when tissue fluid within the peritoneal and retroperitoneal space (either edema, retroperitoneal blood or free fluid in the abdomen) accumulates in such large volumes that the abdominal wall compliance threshold is crossed and the abdomen can no longer stretch. Once the abdominal wall can no longer expand, any further fluid leaking into the tissue results in fairly rapid rises in the pressure within the closed space. Initially this increase in pressure does not cause organ failure but does prevent organs from working properly – this is called intra-abdominal hypertension and is defined as a pressure over 12 mm Hg in adults. ACS is defined by a sustained IAP(intra-abdominal pressure) above 20 mm Hg with new-onset or progressive organ failure.[7] Severe organ dysfunctionent syndrome. These pressure measurements are relative. Small children get into trouble and develop compartment syndromes at much lower pressures while young previously healthy athletic individuals may tolerate an abdominal pressure of 20 mm Hg very well. The underlying cause of the disease process is capillary permeability caused by the systemic inflammatory response syndrome (SIRS) that occurs in every critically ill patient. SIRS leads to leakage of fluid out of the capillary beds into the interstitial space in the entire body with a profound amount of this fluid leaking into the gut wall, mesentery and retroperitoneal tissue.
* Peritoneal tissue edema secondary to diffuse peritonitis, abdominal trauma
* Fluid therapy due to massive volume resuscitation
* Retroperitoneal hematoma secondary to trauma and aortic rupture
* Peritoneal trauma secondary to emergency abdominal operations
* Reperfusion injury following bowel ischemia due to any cause
* Retroperitoneal and mesenteric inflammatory edema secondary to acute pancreatitis[8]
* Ileus and bowel obstruction
* Intra-abdominal masses of any cause
* Abdominal packing for control of bleeding
* Closure of the abdomen under undue tension
* Ascites (intra-abdominal fluid accumulation)[9]
* Acute pancreatitis with abscesses formation
Abdominal compartment syndrome follows a destructive pathway similar to compartment syndrome of the extremities. When increased compression occurs in such a hollow space, organs will begin to collapse under the pressure. As the pressure increases and reaches a point where the abdomen can no longer be distended it starts to affect the cardiovascular and pulmonary systems. When abdominal compartment syndrome reaches this point without surgery and help of a silo the patient will most likely die. There is a high mortality rate associated with abdominal compartment syndrome.[4][10]
## Diagnosis[edit]
Abdominal compartment syndrome is defined as an intra-abdominal pressure above 20 mmHg with evidence of organ failure. Abdominal compartment syndrome develops when the intra-abdominal pressure rapidly reaches certain pathological values, within several hours (intra-abdominal hypertension is observed), and lasts for 6 or more hours. The key to recognizing abdominal compartment syndrome is the demonstration of elevated intra-abdominal pressure which is performed most often via the urinary bladder, and it is considered to be the "gold standard". Multiorgan failure includes damage to the cardiac, pulmonary, renal, neurological, gastrointestinal, abdominal wall, and ophthalmic systems. The gut is the most sensitive to intra-abdominal hypertension, and it develops evidence of end-organ damage before alterations are observed in other systems.[11] In a recent systematic review, Holodinsky et al. described 25 risk factors associated with IAH (intra-abdominal hypertension) and 16 with ACS (abdominal compartment syndrome). These can be roughly categorized in three categories, which may be more helpful at the bedside to identify patients at risk (Table 1). Especially noteworthy is the potential role of fluid resuscitation in the development of IAH and ACS. Recognizing the pivotal role of fluid resuscitation in the pathogenesis of IAH and ACS supplies the clinician with a target for preventive measures. Large volume resuscitation with crystalloids should be avoided in patients with or at risk of ACS.[12]
Table 1 When to suspect intra-abdominal hypertension and abdominal compartment syndrome Abdominal catastrophes Severe organ dysfunction Fluid balance
Trauma, peritonitis, acute pancreatitis, ruptured abdominal aortic aneurysm
Often post-surgery
Metabolic respiratory renal hemodynamic >3000–4000 mL in 24 h window
## Treatment[edit]
Treatment algorithm for IAH/ ACS
### Operative decompression[edit]
The mortality rate associated with abdominal compartment syndrome is significant, ranging between 60% and 70%. The poor outcome relates not only to abdominal compartment syndrome itself but also to concomitant injury and hemorrhagic shock.[13] The surgical decompression of the abdomen remains the treatment of choice of abdominal compartment syndrome; this usually improves the organ changes and is followed by one of the temporary abdominal closure techniques in order to prevent secondary intra-abdominal hypertension.[11] Surgical decompression can be achieved by opening the abdominal wall and abdominal fascia anterior in order to physically create more space for the abdominal viscera. Once opened, the fascia can be bridged for support and to prevent loss of domain by a variety of medical devices (Bogota bag, artificial bur, and vacuum devices using negative pressure wound therapy[14]).
## References[edit]
1. ^ Cheatham, Michael Lee (April 2009). "Abdominal compartment syndrome". Current Opinion in Critical Care. 15 (2): 154–162. doi:10.1097/MCC.0b013e3283297934. ISSN 1070-5295. PMID 19276799. S2CID 42407737.
2. ^ Hunt, Leanne; Frost, Steve A.; Hillman, Ken; Newton, Phillip J.; Davidson, Patricia M. (2014-02-05). "Management of intra-abdominal hypertension and abdominal compartment syndrome: a review". Journal of Trauma Management & Outcomes. 8 (1): 2. doi:10.1186/1752-2897-8-2. ISSN 1752-2897. PMC 3925290. PMID 24499574.
3. ^ De Waele, J. J.; De laet, I.; Malbrain, M. L. N. G. (12 October 2015). "Understanding abdominal compartment syndrome". Intensive Care Medicine. 42 (6): 1068–1070. doi:10.1007/s00134-015-4089-2. PMID 26459879. S2CID 9692082.
4. ^ a b Kirkpatrick, Andrew W.; Roberts, Derek J.; De Waele, Jan; Jaeschke, Roman; Malbrain, Manu L. N. G.; De Keulenaer, Bart; Duchesne, Juan; Bjorck, Martin; Leppaniemi, Ari; Ejike, Janeth C.; Sugrue, Michael; Cheatham, Michael; Ivatury, Rao; Ball, Chad G.; Reintam Blaser, Annika; Regli, Adrian; Balogh, Zsolt J.; d'Amours, Scott; Debergh, Dieter; Kaplan, Mark; Kimball, Edward; Olvera, Claudia; Pediatric Guidelines Sub-Committee for the World Society of the Abdominal Compartment Syndrome (2013). "Intra-abdominal hypertension and the abdominal compartment syndrome: Updated consensus definitions and clinical practice guidelines from the World Society of the Abdominal Compartment Syndrome". Intensive Care Medicine. 39 (7): 1190–1206. doi:10.1007/s00134-013-2906-z. PMC 3680657. PMID 23673399.
5. ^ Malbrain, Manu L. N. G.; Cheatham, Michael L.; Kirkpatrick, Andrew; Sugrue, Michael; Parr, Michael; De Waele, Jan; Balogh, Zsolt; Leppäniemi, Ari; Olvera, Claudia (2006-11-01). "Results from the International Conference of Experts on Intra-abdominal Hypertension and Abdominal Compartment Syndrome. I. Definitions". Intensive Care Medicine. 32 (11): 1722–1732. doi:10.1007/s00134-006-0349-5. ISSN 0342-4642. PMID 16967294. S2CID 6673937.
6. ^ Cheatham, Michael L.; Malbrain, Manu L. N. G.; Kirkpatrick, Andrew; Sugrue, Michael; Parr, Michael; De Waele, Jan; Balogh, Zsolt; Leppäniemi, Ari; Olvera, Claudia (2007-06-01). "Results from the International Conference of Experts on Intra-abdominal Hypertension and Abdominal Compartment Syndrome. II. Recommendations". Intensive Care Medicine. 33 (6): 951–962. doi:10.1007/s00134-007-0592-4. ISSN 0342-4642. PMID 17377769. S2CID 10770608.
7. ^ Malbrain, Manu L.N.G.; De laet, Inneke E. (March 2009). "Intra-Abdominal Hypertension: Evolving Concepts". Clinics in Chest Medicine. 30 (1): 45–70. doi:10.1016/j.ccm.2008.09.003. PMID 19186280.
8. ^ van Brunschot, Sandra; Schut, Anne Julia; Bouwense, Stefan A.; Besselink, Marc G.; Bakker, Olaf J.; van Goor, Harry; Hofker, Sijbrand; Gooszen, Hein G.; Boermeester, Marja A.; van Santvoort, Hjalmar C. (2014). "Abdominal compartment syndrome in acute pancreatitis: a systematic review". Pancreas. 43 (5): 665–674. doi:10.1097/MPA.0000000000000108. ISSN 1536-4828. PMID 24921201. S2CID 24784362.
9. ^ Wittmann, Dietmar H; Iskander, Gaby A (2000). "The Compartment Syndrome of the Abdominal Cavity: A State of the Art Review". Journal of Intensive Care Medicine. 15 (4): 201–20. doi:10.1046/j.1525-1489.2000.00201.x.
10. ^ Abdominal Compartment Syndrome at eMedicine
11. ^ a b Deenichin, Georgi Petrov (24 December 2007). "Abdominal Compartment Syndrome". Surgery Today. 38 (1): 5–19. doi:10.1007/s00595-007-3573-x. PMID 18085356. S2CID 10613413.
12. ^ De Waele, J. J.; De laet, I.; Malbrain, M. L. N. G. (12 October 2015). "Understanding abdominal compartment syndrome". Intensive Care Medicine. 42 (6): 1068–1070. doi:10.1007/s00134-015-4089-2. PMID 26459879. S2CID 9692082.
13. ^ Patel, Aashish; Lall, Chandana G.; Jennings, S. Gregory; Sandrasegaran, Kumaresan (November 2007). "Abdominal Compartment Syndrome". American Journal of Roentgenology. 189 (5): 1037–1043. doi:10.2214/AJR.07.2092. PMID 17954637.
14. ^ Fitzgerald, James EF; Gupta, Shradha; Masterson, Sarah; Sigurdsson, Helgi H (2013). "Laparostomy management using the ABThera™ open abdomen negative pressure therapy system in a grade IV open abdomen secondary to acute pancreatitis". International Wound Journal. 10 (2): 138–44. doi:10.1111/j.1742-481X.2012.00953.x. PMID 22487377. S2CID 2459785.
## External links[edit]
Classification
D
* ICD-10:
M79.A3 (non-traumatic); T79.A3XA (traumatic)
* ICD-9-CM:
729.73 (non-traumatic); 958.93 (traumatic)
* SNOMED CT: 427207001
External resources
* eMedicine: article/829008
* openabdomen.org
* wsacs.org
* v
* t
* e
Shock
Distributive
* Septic shock
* Neurogenic shock
* Anaphylactic shock
* Toxic shock syndrome
Obstructive
* Abdominal compartment syndrome
Low volume
* Hemorrhage
* Hypovolemia
* Osmotic shock
Other
* Spinal shock
* Cryptic shock
* Vasodilatory shock
* Medicine portal
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-aminobutyric 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
|
Abdominal compartment syndrome
|
c1142110
| 26,562 |
wikipedia
|
https://en.wikipedia.org/wiki/Abdominal_compartment_syndrome
| 2021-01-18T18:47:11 |
{"mesh": ["D059325"], "umls": ["C1142110"], "icd-9": ["729.73"], "icd-10": ["M79.A3"], "wikidata": ["Q4665123"]}
|
Congenital dyserythropoietic anemia type II (CDA II) is the most common form of CDA (see this term) characterized by anemia, jaundice and splenomegaly and often leading to liver iron overload and gallstones.
## Epidemiology
The prevalence is unknown. Over a 42 year period (1967-2009), 367 CDA II cases were reported in Europe.
## Clinical description
The disease usually presents with jaundice and normocytic anemia (mild to severe) in neonates but in some cases symptoms may be so mild that diagnosis can be delayed until adulthood. Splenomegaly and hepatomegaly are also frequent manifestations. Less commonly, posterior mediastinal or paravertebral masses (that consist of extramedullary hemopoietic tissue) are present. In rare cases, hydrops fetalis (see this term) has been associated with CDA II. Long-term complications include secondary hemochromatosis that, if left untreated, can lead to organ damage.
## Etiology
Most cases of CDA II are caused by mutations in the SEC23B gene (20p11.23), coding for a coating protein involved in the reticulum-Golgi trafficking.
## Diagnostic methods
Diagnosis of CDA II is based on the presence of congenital anemia, 10-50% binuclearity of bone marrow erythroblasts and increased ferritin levels. Further diagnostic findings include a positive serum acidification (Ham) test, a SDS-PAGE red blood cell (RBC) membrane electrophoresis that reveals a narrow and fast migrating band 3 and a bone marrow electron microscope that reveals the presence of a double membrane in RBC precursors. Molecular genetic analysis can also be used to identify a SEC23B mutation.
## Differential diagnosis
The diagnosis of CDA should be considered following exclusion of other causes of hemolytic anemias (especially hereditary spherocytosis), acquired dyserythropoiesis (myelodysplastic syndromes, acute erythroid leukemia) and microcytic anemias (thalassemias or iron deficiency anemias) (see these terms). Gilbert syndrome (see this term) and infections should be also excluded.
## Antenatal diagnosis
Prenatal diagnosis for at-risk pregnancies requires prior identification of the disease-causing mutations in the family.
## Genetic counseling
CDA II is inherited in an autosomal recessive manner and genetic counseling is possible.
## Management and treatment
Treatment chosen depends on disease severity and age of patients. Neonates may require an erythrocyte transfusion and in severe cases may be transfusion-dependent for years to come. This need usually diminishes in adolescence and adulthood except under certain circumstances (pregnancy, aplastic crisis, major operations and infections). Hydrops fetalis-associated anemia can be treated with intrauterine transfusions. Vitamin B12 and folic acid supplements are frequently used, although without any evidence of efficacy. The use of erythropoietin formulations also appears to be ineffective. Allogenic bone marrow transplantation has been successful in a few severe cases. Cholecystectomy is often suggested for treatment of cholethiasis. Transfusions can worsen the problem of iron loading and ferritin levels should be monitored annually. Body iron overload can also be monitored by magnetic resonance imaging. Phlebotomies can decrease ferritin concentrations but as they are not well tolerated by some, they should be accompanied by oral chelating agents.
## Prognosis
The prognosis of CDA II is usually good. However, morbidity may be important due to iron overload complications that can be fatal if untreated.
*[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-aminobutyric 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
|
Congenital dyserythropoietic anemia type II
|
c1306589
| 26,563 |
orphanet
|
https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=98873
| 2021-01-23T18:39:49 |
{"gard": ["2001"], "mesh": ["D000742"], "omim": ["224100"], "umls": ["C1306589"], "icd-10": ["D64.4"], "synonyms": ["CDA II", "CDA type 2", "CDA type II", "Congenital dyserythropoietic anemia type 2", "Hereditary erythroblastic multinuclearity with a positive acidified-serum test (hempas)", "SEC23B-CDG"]}
|
Chronic eosinophilic leukemia
Other namesCEL
SpecialtyHematology, oncology
Chronic eosinophilic leukemia is a form of cancer in which too many eosinophils are found in the bone marrow, blood, and other tissues. Most cases are associated with fusion genes.
## Contents
* 1 Signs and symptoms
* 2 Causes
* 3 Diagnosis
* 4 Prognosis
* 5 Epidemiology
* 6 References
* 7 External links
## Signs and symptoms[edit]
Signs and symptoms may include weight loss, fever, malaise, cough, skin and mucosal lesions, diarrhea, and peripheral neuropathy. Cardiac symptoms are also possible.[1]
In cases associated with PDGFRB and FGFR1 mutations, splenomegaly is common. Lymphadenopathy is also common with FGFR1 mutations.[1]
Infiltration of eosinophils causes organ damage.[2]
## Causes[edit]
Most cases of CEL are associated with rearrangements in PDGFRA, PDGFRB, or FGFR1.[3]
CEL not otherwise specified (CEL NOS) is a form in which BCR-ABL1 fusion genes and PDGFRA, PDGFRB, and FGFR1 rearrangements are not found.[4]
## Diagnosis[edit]
For a diagnosis of CEL, hypereosinophilia with greater than 30% eosinophils is required.[3] Serum IgE is usually normal. In cases associated with PDGFRB, serum vitamin B12 and tryptase may be elevated.[1]
## Prognosis[edit]
CEL associated with a mutation in PDGFRA is treatable with imatinib and has an excellent prognosis. On the other hand, CEL associated with FGFR1 mutations has a very poor prognosis.[3] Progression can occur from CEL to AEL or AML in rare cases.[3]
## Epidemiology[edit]
Cases occur in people of all ages. The disease is more common in males than females.[1]
## References[edit]
1. ^ a b c d Jaffe, Elaine (2016-08-25). Hematopathology (2 ed.). pp. 931–941. ISBN 978-0-323-29613-7.
2. ^ McPherson (2011). Henry's Clinical Diagnosis and Management by Laboratory Methods (23 ed.). Elsevier. pp. 606–658.
3. ^ a b c d Hoffman, Ronald (2017-08-15). Hematology: basic principles and practice (Seven ed.). pp. 1151–1169. ISBN 978-0-323-35762-3.
4. ^ Aster, Jon. Hematopathology: A Volume in the High Yield Pathology Series. Elsevier. p. 222.
## External links[edit]
* Chronic eosinophilic leukemia entry in the public domain NCI Dictionary of Cancer Terms
* Cancer.Net: Eosinophilic Leukemia
Classification
D
* ICD-O: 9964/3
* MeSH: C580364
External resources
* Orphanet: 168940
* 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
*[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-aminobutyric 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
|
Chronic eosinophilic leukemia
|
c0346421
| 26,564 |
wikipedia
|
https://en.wikipedia.org/wiki/Chronic_eosinophilic_leukemia
| 2021-01-18T18:59:54 |
{"mesh": ["C580364"], "umls": ["C0346421"], "icd-10": ["D47.5"], "orphanet": ["168940"], "wikidata": ["Q5113976"]}
|
## Clinical Features
Tonoki et al. (1990) reported sibs with a purportedly new syndrome of dwarfism, brachydactyly, nail dysplasia, and mental retardation. The brachydactyly was considered to be type B (short middle phalanges with short or absent terminal phalanges of fingers and toes).
Sorge et al. (1998) described a 13.5-year-old boy with microcephaly, short stature, type B brachydactyly, nail dysplasia, skeletal anomalies, and mental retardation. His mother had brachydactyly of thumbs and a similar physiognomy without mental retardation.
Inheritance
Sorge et al. (1998) suggested that Tonoki syndrome is a distinct autosomal dominant or X-linked clinical entity.
*[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-aminobutyric 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
|
TONOKI SYNDROME
|
c1863918
| 26,565 |
omim
|
https://www.omim.org/entry/603396
| 2019-09-22T16:13:03 |
{"mesh": ["C536967"], "omim": ["603396"]}
|
Neuroferritinopathy is a movement disorder caused by the gradual accumulation of iron in the basal ganglia of the brain. People with neuroferritinopathy have progressive problems with movement that begin at about age 40. These movement problems can include involuntary jerking motions (chorea), rhythmic shaking (tremor), difficulty coordinating movements (ataxia), or uncontrolled tensing of muscles (dystonia). Symptoms of the disorder may be more prominent on one side of the body. Affected individuals may also have difficulty swallowing (dysphagia) and speaking (dysarthria). Intelligence is generally unaffected, but some individuals develop a gradual decline in thinking and reasoning abilities (dementia). Personality changes such as reduced inhibitions and difficulty controlling emotions may also occur as the disorder progresses. Neuroferritinopathy is caused by mutations in the FTL gene. It is inherited in an autosomal dominant fashion.
*[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-aminobutyric 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
|
Neuroferritinopathy
|
c1853578
| 26,566 |
gard
|
https://rarediseases.info.nih.gov/diseases/10686/neuroferritinopathy
| 2021-01-18T17:58:45 |
{"mesh": ["C548080"], "omim": ["606159"], "umls": ["C1853578"], "orphanet": ["157846"], "synonyms": ["Ferritin-related neurodegeneration", "Basal ganglia disease adult-onset"]}
|
Subcutaneous T-cell lymphoma
SpecialtyOncology, cutaneous oncology
ComplicationsHPS (hemophagocytic syndrome)
Diagnostic methodRequires biopsy confirmation by expert hemopathologist
Differential diagnosisLupus panniculitis, cutaneous gamma delta T Cell lymphoma
Subcutaneous T-cell lymphoma (also known as a "panniculitis-like T-cell lymphoma") is a cutaneous condition that most commonly presents in young adults, and is characterized by subcutaneous nodules.[1]:739 Common symptoms include fever, fatigue, and pancytopenia.
## Contents
* 1 Cause
* 2 Diagnosis
* 2.1 Classification
* 3 Treatment
* 4 Research
* 5 See also
* 6 References
* 7 External links
## Cause[edit]
This section is empty. You can help by adding to it. (June 2017)
## Diagnosis[edit]
### Classification[edit]
Subcutaneous panniculitis-like T-cell lymphoma, is a subtype of Peripheral T-cell lymphoma. Peripheral T-cell lymphoma (PTCL) is defined as a diverse group of aggressive lymphomas that develop from mature-stage white blood cells called T-cells and natural killer cells (NK cells) (see figure for an overview of PTCL subtypes). PTCL is a type of non-Hodgkin’s lymphoma (NHL).[2] NHL affects two particular types of white blood cells: B-cells and T-cells. PTCL specifically affects T-cells, and results when T-cells develop and grow abnormally.
Subcutaneous Panniculitis-like T-cell Lymphoma is a rare type of lymphoma that infiltrates the subcutaneous fat but does not involve the skin. There are two subtypes – alpha-beta and gamma-delta. Patients with the gamma-delta subtype have a more aggressive clinical course.[3]
It is described as CD3+/CD4-/CD8+, with CD30 and CD56 usually negative.[4]
## Treatment[edit]
Historically, Subcutaneous Panniculitis-like T-cell Lymphoma, as with other types of T-cell lymphoma, was treated similarly to B-cell lymphomas. However, in recent years, scientists have developed techniques to better recognize the different types of lymphomas, such as PTCL. It is now understood that PTCL behaves differently from B-cell lymphomas and therapies are being developed that specifically target these types of lymphoma. Currently, however, there are no drugs approved by the U.S. Food and Drug Administration (FDA) specifically for PTCL. There are two drugs, Pralatrexate and Romidepsin, which are both approved by the FDA for relapsed or refractory T cell lymphoma. Anthracycline-containing chemotherapy regimens are commonly offered as the initial therapy. Some patients may receive an autologous or allogeneic stem cell transplant.[5][6][7][8][9][10][11][12] Novel approaches to the treatment of PTCL in the relapsed or refractory setting are under investigation.
CHOP or CHOP-like regimens have been used.[13]
## Research[edit]
Pralatrexate is one compound currently under investigation to add to the frontline treatment of PTCL. It is currently approved by the FDA for relapsed or refractory T cell lymphoma. Side effects include mouth sores, which can be severe.[citation needed]
## See also[edit]
* Cutaneous T-cell lymphoma
* Lennert lymphoma
* Skin lesion
## References[edit]
1. ^ James, William D.; Berger, Timothy G.; et al. (2006). Andrews' Diseases of the Skin: clinical Dermatology. Saunders Elsevier. ISBN 978-0-7216-2921-6.
2. ^ Swerdlow SH, WHO Classification of Tumours of Haematopoietic and Lymphoid Tissues, 2008
3. ^ Vose JM (October 2008). "Peripheral T-cell non-Hodgkin's lymphoma". Hematol. Oncol. Clin. North Am. 22 (5): 997–1005, x. doi:10.1016/j.hoc.2008.07.010. PMID 18954748.
4. ^ Kong, YY.; Dai, B.; Kong, JC.; Zhou, XY.; Lu, HF.; Shen, L.; Du, X.; Shi, DR. (Oct 2008). "Subcutaneous panniculitis-like T-cell lymphoma: a clinicopathologic, immunophenotypic, and molecular study of 22 Asian cases according to WHO-EORTC classification". Am J Surg Pathol. 32 (10): 1495–502. doi:10.1097/PAS.0b013e31817a9081. PMID 18708940.
5. ^ Reimer P, Rüdiger T, Geissinger E, et al. (January 2009). "Autologous stem-cell transplantation as first-line therapy in peripheral T-cell lymphomas: results of a prospective multicenter study". J. Clin. Oncol. 27 (1): 106–13. doi:10.1200/JCO.2008.17.4870. PMID 19029417.
6. ^ Mercadal S, Briones J, Xicoy B, et al. (May 2008). "Intensive chemotherapy (high-dose CHOP/ESHAP regimen) followed by autologous stem-cell transplantation in previously untreated patients with peripheral T-cell lymphoma". Ann. Oncol. 19 (5): 958–63. doi:10.1093/annonc/mdn022. PMID 18303032.
7. ^ Rodríguez J, Conde E, Gutiérrez A, et al. (July 2007). "Frontline autologous stem cell transplantation in high-risk peripheral T-cell lymphoma: a prospective study from The Gel-Tamo Study Group". Eur. J. Haematol. 79 (1): 32–8. doi:10.1111/j.1600-0609.2007.00856.x. PMID 17598836.
8. ^ Corradini P, Tarella C, Zallio F, et al. (September 2006). "Long-term follow-up of patients with peripheral T-cell lymphomas treated up-front with high-dose chemotherapy followed by autologous stem cell transplantation". Leukemia. 20 (9): 1533–8. doi:10.1038/sj.leu.2404306. PMID 16871285.
9. ^ d’Amore F, et al. Blood. 2006;108:A401
10. ^ Gisselbrecht C, Lepage E, Molina T, et al. (May 2002). "Shortened first-line high-dose chemotherapy for patients with poor-prognosis aggressive lymphoma". J. Clin. Oncol. 20 (10): 2472–9. doi:10.1200/JCO.2002.02.125. PMID 12011124.
11. ^ Deconinck E, Lamy T, Foussard C, et al. (June 2000). "Autologous stem cell transplantation for anaplastic large-cell lymphomas: results of a prospective trial". Br. J. Haematol. 109 (4): 736–42. doi:10.1046/j.1365-2141.2000.02098.x. PMID 10929023.
12. ^ Haioun C, Lepage E, Gisselbrecht C, et al. (August 2000). "Survival benefit of high-dose therapy in poor-risk aggressive non-Hodgkin's lymphoma: final analysis of the prospective LNH87-2 protocol—a groupe d'Etude des lymphomes de l'Adulte study". J. Clin. Oncol. 18 (16): 3025–30. doi:10.1200/JCO.2000.18.16.3025. PMID 10944137.
13. ^ Rojnuckarin, P.; Nakorn, TN.; Assanasen, T.; Wannakrairot, P.; Intragumtornchai, T. (Mar 2007). "Cyclosporin in subcutaneous panniculitis-like T-cell lymphoma". Leuk Lymphoma. 48 (3): 560–3. doi:10.1080/10428190601078456. PMID 17454599.
## External links[edit]
Classification
D
* ICD-10: C83.6
* MeSH: C537503
External resources
* Orphanet: 86884
*[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-aminobutyric 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
|
Subcutaneous T-cell lymphoma
|
c0522624
| 26,567 |
wikipedia
|
https://en.wikipedia.org/wiki/Subcutaneous_T-cell_lymphoma
| 2021-01-18T18:34:49 |
{"gard": ["10193"], "mesh": ["C537503"], "umls": ["C0522624"], "icd-10": ["C86.3"], "orphanet": ["86884"], "wikidata": ["Q7630986"]}
|
Toddler's fracture
Other namesChildhood accidental spiral tibial (CAST) fractures
A toddler's fracture
SpecialtyOrthopedic
Toddler's fractures are bone fractures of the distal (lower) part of the shin bone (tibia) in toddlers (aged 9 months-3 years) and other young children (less than 8 years).[1] The fracture is found in the distal two thirds of the tibia in 95% of cases,[1] is undisplaced and has a spiral pattern. It occurs after low-energy trauma, sometimes with a rotational component.
## Contents
* 1 Pathophysiology
* 2 Diagnosis
* 3 Treatment
* 4 History
* 5 References
* 6 External links
## Pathophysiology[edit]
The proposed mechanism involves shear stress and lack of displacement due to the periosteum that is relatively strong compared to the elastic bone in young children.[2]
## Diagnosis[edit]
Typical symptoms include pain, refusing to walk or bear weight and limping -bruising and deformity are absent. On clinical examination, there can be warmth and swelling over the fracture area, as well as pain on bending the foot upwards (dorsiflexion). The initial radiographical images may be inconspicuous (a faint oblique line) and often even completely normal.[3] After 1–2 weeks however, callus formation develops. The condition can be mistaken for osteomyelitis, transient synovitis or even child abuse. Contrary to CAST fractures, non-accidental injury typically affect the upper two-thirds or midshaft of the tibia.[citation needed]
Other possible fractures in this area, occurring in the cuboid, calcaneus, and fibula, can be associated or can be mistaken for a toddler's fracture.[4] In some cases, an internal oblique radiography and radionuclide imaging can add information to anterior-posterior and lateral views.[5][6] However, since treatment can also be initiated in the absence of abnormalities, this appears to have little value in most cases. It could be useful in special cases such as children with fever, those without a clear trauma or those in which the diagnosis remains unclear.[3][7] Recently, ultrasound has been suggested as a helpful diagnostic tool.[8]
## Treatment[edit]
Treatment consist of a long leg orthopedic cast for several weeks.[3]
## History[edit]
The condition was initially recognised by Dunbar and co-workers in 1964.[9] A new terminology has been proposed, which defines toddler's fracture as a subset of childhood accidental spiral tibial (CAST) fractures.[1]
## References[edit]
1. ^ a b c Mellick LB, Milker L, Egsieker E (October 1999). "Childhood accidental spiral tibial (CAST) fractures". Pediatr Emerg Care. 15 (5): 307–9. doi:10.1097/00006565-199910000-00001. PMID 10532655.
2. ^ Sarmah A (April 1995). "'Toddler's fracture'? A recognised entity". Arch. Dis. Child. 72 (4): 376. doi:10.1136/adc.72.4.376-a. PMC 1511261. PMID 7763080.
3. ^ a b c Halsey MF, Finzel KC, Carrion WV, Haralabatos SS, Gruber MA, Meinhard BP (2001). "Toddler's fracture: presumptive diagnosis and treatment". J Pediatr Orthop. 21 (2): 152–6. doi:10.1097/00004694-200103000-00003. PMID 11242240.
4. ^ Donnelly LF (September 2000). "Toddler's fracture of the fibula". AJR Am J Roentgenol. 175 (3): 922. doi:10.2214/ajr.175.3.1750922. PMID 10954515.
5. ^ De Boeck K, Van Eldere S, De Vos P, Mortelmans L, Casteels-Van Daele M (January 1991). "Radionuclide bone imaging in toddler's fracture". Eur. J. Pediatr. 150 (3): 166–9. doi:10.1007/BF01963558. PMID 2044585. S2CID 11284378.
6. ^ John SD, Moorthy CS, Swischuk LE (1997). "Expanding the concept of the toddler's fracture". Radiographics. 17 (2): 367–76. doi:10.1148/radiographics.17.2.9084078. PMID 9084078.
7. ^ Miller JH, Sanderson RA (December 1988). "Scintigraphy of toddler's fracture". J. Nucl. Med. 29 (12): 2001–3. PMID 3193212.
8. ^ Lewis D, Logan P (May 2006). "Sonographic diagnosis of toddler's fracture in the emergency department". J Clin Ultrasound. 34 (4): 190–4. doi:10.1002/jcu.20192. PMID 16615049.
9. ^ Dunbar JS, Owen HF, Nogrady MB, McLeese R (September 1964). "Obscure tibial fracture of infants -- the toddler's fracture". J Can Assoc Radiol. 15: 136–44. PMID 14212071.
## External links[edit]
Classification
D
* ICD-10: S82.3
* MeSH: 68013978
External resources
* AO Foundation: 42-A1
* v
* t
* e
Fractures and cartilage damage
General
* Avulsion fracture
* Chalkstick fracture
* Greenstick fracture
* Open fracture
* Pathologic fracture
* Spiral fracture
Head
* Basilar skull fracture
* Blowout fracture
* Mandibular fracture
* Nasal fracture
* Le Fort fracture of skull
* Zygomaticomaxillary complex fracture
* Zygoma fracture
Spinal fracture
* Cervical fracture
* Jefferson fracture
* Hangman's fracture
* Flexion teardrop fracture
* Clay-shoveler fracture
* Burst fracture
* Compression fracture
* Chance fracture
* Holdsworth fracture
Ribs
* Rib fracture
* Sternal fracture
Shoulder fracture
* Clavicle
* Scapular
Arm fracture
Humerus fracture:
* Proximal
* Supracondylar
* Holstein–Lewis fracture
Forearm fracture:
* Ulna fracture
* Monteggia fracture
* Hume fracture
* Radius fracture/Distal radius
* Galeazzi
* Colles'
* Smith's
* Barton's
* Essex-Lopresti fracture
Hand fracture
* Scaphoid
* Rolando
* Bennett's
* Boxer's
* Busch's
Pelvic fracture
* Duverney fracture
* Pipkin fracture
Leg
Tibia fracture:
* Bumper fracture
* Segond fracture
* Gosselin fracture
* Toddler's fracture
* Pilon fracture
* Plafond fracture
* Tillaux fracture
Fibular fracture:
* Maisonneuve fracture
* Le Fort fracture of ankle
* Bosworth fracture
Combined tibia and fibula fracture:
* Trimalleolar fracture
* Bimalleolar fracture
* Pott's fracture
Crus fracture:
* Patella fracture
Femoral fracture:
* Hip fracture
Foot fracture
* Lisfranc
* Jones
* March
* Calcaneal
*[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-aminobutyric 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
|
Toddler's fracture
|
c2862185
| 26,568 |
wikipedia
|
https://en.wikipedia.org/wiki/Toddler%27s_fracture
| 2021-01-18T19:00:19 |
{"mesh": ["D013978"], "umls": ["C2862185"], "icd-9": ["823.2"], "icd-10": ["S82.3"], "wikidata": ["Q7812743"]}
|
A number sign (#) is used with this entry because of evidence that selective tooth agenesis-7 (STHAG7) is caused by heterozygous mutation in the LRP6 gene (603507) on chromosome 12p13.
For a general phenotypic description and a discussion of genetic heterogeneity of selective tooth agenesis, see STHAG1 (106600).
Clinical Features
Massink et al. (2015) studied affected individuals from 4 unrelated families segregating autosomal dominant nonsyndromic oligodontia. The probands all had a high number of missing teeth, ranging from 12 to 20 (excluding the third molars), whereas the number of missing teeth in other affected family members ranged from 4 to 16. Three of the 10 affected individuals exhibited taurodontism. Incomplete penetrance was demonstrated in 1 family in which a carrier mother was unaffected. The dental phenotype appeared to be nonsyndromic, although in 1 family, an affected father and 2 daughters showed minor anatomical variation of the ear and underdevelopment of the thumb.
Molecular Genetics
In 20 patients with 6 or more missing permanent teeth (excluding the third molars), who were negative for mutation in 6 known oligodontia-associated genes, Massink et al. (2015) performed whole-exome sequencing and identified heterozygosity for 3 different mutations in the LRP6 gene (603507.0005-603507.0007) in 3 probands. The mutations were present in all affected family members and were not found in genetic variation databases. Sequencing of LRP6 in 8 additional patients without causative mutations in oligodontia-associated genes identified 1 more proband with a heterozygous mutation in LRP6.
INHERITANCE \- Autosomal dominant HEAD & NECK Teeth \- Agenesis of permanent teeth (oligodontia) \- Taurodontia (in some patients) MISCELLANEOUS \- Intrafamilial variability in number of missing teeth MOLECULAR BASIS \- Caused by mutation in the low density lipoprotein receptor-related protein-6 gene (LRP6, 603507.0005 ) ▲ 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-aminobutyric 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
|
TOOTH AGENESIS, SELECTIVE, 7
|
c4225231
| 26,569 |
omim
|
https://www.omim.org/entry/616724
| 2019-09-22T15:48:05 |
{"omim": ["616724"], "orphanet": ["99798"], "synonyms": ["Selective tooth agenesis"]}
|
Familial nasal acilia is a rare genetic otorhinolaryngologic disease characterized by respiratory morbidity due to lack of cilia on the respiratory tract epithelial cells. The disease manifests from birth with respiratory distress, neonatal pneumonia, dyspnea, lobar atelectasis and bronchiectasis. Recurrent infections of the upper and lower respiratory tract, chronic humid coughing, and chronic sinusitis, otitis and rhinitis are typical lifelong presenting conditions.
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-aminobutyric 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
|
Familial nasal acilia
|
c4706505
| 26,570 |
orphanet
|
https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=922
| 2021-01-23T18:48:28 |
{"gard": ["2254"], "icd-10": ["Q30.8"]}
|
Shellfish allergy
Shellfish (shrimp, crab legs, mussels) on platter
SpecialtyImmunology
FrequencyShellfish allergy frequency estimated at ~0.5-2.5% (self-reported)[1]
Shellfish allergy is among the most common food allergies. "Shellfish" is a colloquial and fisheries term for aquatic invertebrates used as food, including various species of molluscs such as clams, mussels, oysters and scallops, crustaceans such as shrimp, lobsters and crabs, and cephalopods such as squid and octopus. Shellfish allergy is an immune hypersensitivity to proteins found in shellfish. Symptoms can be either rapid or gradual in onset. The latter can take hours to days to appear. The former may include anaphylaxis, a potentially life-threatening condition which requires treatment with epinephrine. Other presentations may include atopic dermatitis or inflammation of the esophagus.[2] Shellfish is one of the eight common food allergens, responsible for 90% of allergic reactions to foods: cow's milk, eggs, wheat, shellfish, peanuts, tree nuts, fish, and soy beans.[3][4]
Unlike early childhood allergic reactions to milk and eggs, which often lessen as the children age,[5] shellfish allergy tends to first appear in school-age children and older, and persist in adulthood.[6] Strong predictors for adult-persistence are anaphylaxis, high shellfish-specific serum immunoglobulin E (IgE) and robust response to the skin prick test. Adult onset of fish allergy is common in workers in the shellfish catching and processing industry.[7][8]
## Contents
* 1 Signs and symptoms
* 2 Causes
* 2.1 Eating shellfish
* 2.2 Cross-contact
* 2.3 Shellfish parasite
* 2.4 Occupational exposure
* 2.5 Cross-reactivity to non-shellfish
* 2.6 Exercise as contributing factor
* 3 Mechanisms
* 3.1 Allergic response
* 3.2 Shellfish allergenic proteins
* 4 Diagnosis
* 5 Prevention
* 6 Treatment
* 7 Prognosis
* 8 Epidemiology
* 9 Society and culture
* 9.1 Regulation of labelling
* 9.1.1 Ingredients intentionally added
* 10 See also
* 11 References
* 12 External links
## Signs and symptoms[edit]
Food allergies in general usually have a fast onset (from seconds to one hour).[9] Symptoms may include: rash, hives, itching of mouth, lips, tongue, throat, eyes, skin, or other areas, swelling of lips, tongue, eyelids, or the whole face, difficulty swallowing, runny or congested nose, hoarse voice, wheezing, shortness of breath, diarrhea, abdominal pain, lightheadedness, fainting, nausea, or vomiting.[9] Symptoms of allergies vary from person to person and may vary from incident to incident.[9] Serious danger regarding allergies can begin when the respiratory tract or blood circulation is affected. The former can be indicated by wheezing, a blocked airway and cyanosis, the latter by weak pulse, pale skin, and fainting. When these symptoms occur the allergic reaction is called anaphylaxis.[9] Anaphylaxis occurs when IgE antibodies are involved, and areas of the body that are not in direct contact with the food become affected and show severe symptoms.[9][10] Untreated, this can proceed to vasodilation, a low blood pressure situation called anaphylactic shock.[10]
## Causes[edit]
### Eating shellfish[edit]
The cause is typically the eating of shellfish or foods that contain shellfish. The shellfish types causing clinical allergy are, in decreasing incidence, shrimp, crab, lobster, clam, oyster and mussel.[11] Once an allergic reaction has occurred it usually remains a lifelong sensitivity.[12] Briefly, the immune system overreacts to proteins found in shellfish, most commonly to tropomyosin, but often to other proteins, such as arginine kinase, myosin light chain and sarcoplasmic calcium-binding protein.[13][14][15] The allergic reaction to fish is to a different protein, parvalbumin, so there is no cross-reactivity between fish and shellfish allergy.[6][16][17]
### Cross-contact[edit]
Cross-contact, also referred to as cross-contamination, occurs when foods are being processed in factories or at food markets, or are being prepared for cooking in restaurants and home kitchens. The allergenic proteins are transferred from one food to another.[18]
### Shellfish parasite[edit]
The food-borne parasite Anisakis is a genus of nematodes known to be present in squid.[19]Anisakis are directly infective to humans whenever infected squid (or marine fish) are consumed raw or slightly processed, causing a condition call anisakiasis. Symptoms from consuming live nematodes include severe abdominal pain, nausea, and vomiting.[20] In addition, there can be an allergic reaction to Anisakis proteins, even if the food in question was frozen or cooked before being consumed, killing the nematodes, as some of the nematode proteins are resistant to cold and heat.[19] Allergic reactions can include hives, asthma and true anaphylactic reactions.[12][21]
### Occupational exposure[edit]
An industry review conducted in 1990 estimated that 28.5 million people worldwide were engaged in some aspect of the seafood industry: fishing, aquaculture, processing and industrial cooking. Men predominate in fishing, women in processing facilities.[7] Exposure to shellfish allergenic proteins includes inhalation of wet aerosols from fresh shellfish handling, and dermal contact through skin breaks and cuts.[7][8] Prevalence of seafood-induced adult asthma is on the order of 10% (higher for crustaceans and lower for fish). Prevalence of skin allergy reactions, often characterized by itchy rash (hives), range from 3% to 11%. The shellfish-induced health outcomes are mainly due to the protein tropomyosin causing an IgE mediated immune system response.[7][8]
### Cross-reactivity to non-shellfish[edit]
Tropomyosin, the major allergen in shellfish allergy, is also found in house dust mites and cockroaches.[14][15] Exposure to inhaled tropomyosins from dust mites is thought to be the primary sensitizer for shellfish allergy, an example of inhalant-to-food cross-reactivity.[22] Epidemiological surveys have confirmed correlation between shellfish and dust mite sensitizations. An additional confirmation was seen in Orthodox Jews with no history of shellfish consumption, in that skin tests confirming dust mite allergy were also positive for shellfish tropomyosin.[14][23] In addition to tropomyosin, arginine kinase and hemocyanin seem to have a role in cross-reactivity to dust mites.[13]
### Exercise as contributing factor[edit]
Exercise can be a contributing factor to an allergic food response. There is a condition called food-dependent, exercise-induced anaphylaxis. For people with this condition, exercise alone is not sufficient, nor consumption of a food to which they are mildly allergic sufficient, but when the food in question is consumed within a few hours before high intensity exercise, the result can be anaphylaxis. Shellfish are specifically mentioned as a causative food.[24][25][26] One theory is that exercise is stimulating the release of mediators such as histamine from IgE-activated mast cells.[26] Two of the reviews postulate that exercise is not essential for the development of symptoms, but rather that it is one of several augmentation factors, citing evidence that the culprit food in combination with alcohol or aspirin will result in a respiratory anaphylactic reaction.[24][26]
## Mechanisms[edit]
### Allergic response[edit]
Conditions caused by food allergies are classified into three groups according to the mechanism of the allergic response:[4]
1. IgE-mediated (classic) – the most common type, manifesting acute changes that occur shortly after eating, and may progress to anaphylaxis
2. Non-IgE mediated – characterized by an immune response not involving immunoglobulin E; may occur hours to days after eating, complicating diagnosis
3. IgE and non-IgE-mediated – a hybrid of the above two types
Allergic reactions are hyperactive responses of the immune system to generally innocuous substances, such as food proteins.[27] Why some proteins trigger allergic reactions while others do not is not entirely clear. One theory holds that proteins which resist digestion in the stomach, therefore reaching the small intestine relatively intact, are more likely to be allergenic, but studies have shown that digestion may abolish, decrease, have no effect, or even increase the allergenicity of food allergens.[28] The heat of cooking structurally degrades protein molecules, potentially making them less allergenic.[29][30]
Hypersensitivities are categorized according to the parts of the immune system that are attacked and the amount of time it takes for the response to occur. The four types of hypersensitivity reaction are: type 1, immediate IgE-mediated; type 2, cytotoxic; type 3, immune complex-mediated; and type 4, delayed cell-mediated.[31] The consequent pathophysiology of allergic responses can be divided into two time periods. The first is an acute response that occurs immediately after exposure to an allergen. This phase can either subside or progress into a "late-phase reaction" which can substantially prolong the symptoms of a response, and result in more tissue damage.
In the early stages of acute allergic reaction, lymphocytes previously sensitized to a specific protein or protein fraction react by quickly producing a particular type of antibody known as secreted IgE (sIgE), which circulates in the blood and binds to IgE-specific receptors on the surface of other kinds of immune cells called mast cells and basophils. Both of these are involved in the acute inflammatory response.[32] Activated mast cells and basophils undergo a process called degranulation, during which they release histamine and other inflammatory chemical mediators called (cytokines, interleukins, leukotrienes, and prostaglandins) into the surrounding tissue causing several systemic effects, such as vasodilation, mucous secretion, nerve stimulation, and smooth-muscle contraction.[32] This results in runny nose, itchiness, shortness of breath, and potentially anaphylaxis.[32] Depending on the individual, the allergen, and the mode of introduction, the symptoms can be system-wide (classical anaphylaxis), or localized to particular body systems; asthma is localized to the respiratory system while hives and eczema are localized to the skin.[32] In addition to reacting to oral consumption, skin reactions can be triggered by contact if there are skin abrasions or cuts.[7][8]
Hives allergic reaction on arm
After the chemical mediators of the acute response subside, late-phase responses can often occur due to the migration of other white blood cells such as neutrophils, lymphocytes, eosinophils, and macrophages to the initial reaction sites. This is usually seen 2–24 hours after the original reaction.[33] Cytokines from mast cells may also play a role in the persistence of long-term effects. Late-phase responses seen in asthma are slightly different from those seen in other allergic responses, although they are still caused by release of mediators from eosinophils.[34]
In addition to IgE-mediated responses, shellfish allergy can manifest as atopic dermatitis, especially in infants and young children.[35] Some will display both, so that a child could react to an oral food challenge with allergic symptoms, followed a day or two later with a flare up of atopic dermatitis and/or gastrointestinal symptoms, including allergic eosinophilic esophagitis.[36]
### Shellfish allergenic proteins[edit]
Several proteins from shellfish are either clearly involved in allergenic reactions or suspected to be. Tropomyosin, arginine kinase, myosin light chain and sarcoplasmic calcium-binding protein are widely present across shellfish species.[13][14][15][37] Troponin, actin, triosephosphate isomerase and hemocyanin are also identified as allergenic proteins.[1][14] As of a 2016 review, only three (tropomyosin, arginine kinase and sarcoplasmic calcium-binding protein) were available for routine diagnostic skin testing.[14] Shellfish do not manifest the proteins β-parvalbumin (found in bony fishes) or α-parvalbumin (found in cartilaginous fishes such as sharks and rays), so there is not cross-reactivity of shellfish allergy to fish allergy.[6][16][17]
## Diagnosis[edit]
Diagnosis of shellfish allergy is based on the person's history of allergic reactions, skin prick test and measurement of shellfish-specific serum immunoglobulin E (IgE or sIgE). Confirmation is by double-blind, placebo-controlled food challenges.[16] Self-reported shellfish allergy often fails to be confirmed by food challenge.[38]
## Prevention[edit]
Reviews of food allergens in general stated that introducing solid foods at 4–6 months may result in the lowest subsequent allergy risks for exzema, allergic rhinitis and more severe reactions.[39] The evidence is best for peanuts, eggs and milk.[40] The literature is sparse for consequences of early introduction of shellfish.[40]
## Treatment[edit]
Treatment for accidental ingestion of shellfish products by allergic individuals varies depending on the sensitivity of the person. An antihistamine such as diphenhydramine may be prescribed. Sometimes prednisone will be prescribed to prevent a possible late phase Type I hypersensitivity reaction.[41] Severe allergic reactions (anaphalaxis) may require treatment with an epinephrine pen, which is an injection device designed to be used by a non-healthcare professional when emergency treatment is warranted.[42] Unlike for egg allergy, for which there is active research on trying oral immunotherapy (OIT) to desensitize people to egg allergens,[43] reviews mention that there are no published clinical trials evaluating oral immunotherapy for shellfish allergy.[6][11]
## Prognosis[edit]
Unlike milk and egg allergies,[5][44] shellfish allergy usually persists into adulthood.[11][12]
## Epidemiology[edit]
Incidence and prevalence are terms commonly used in describing disease epidemiology. Incidence is newly diagnosed cases, which can be expressed as new cases per year per million people. Prevalence is the number of cases alive, expressible as existing cases per million people during a period of time.[45] Worldwide, the prevalence of shellfish allergy is increasing because shellfish consumption is increasing,[46] and among adults shellfish is the most common anaphylaxis-eliciting food.[11] Reviews cite self-reported shellfish allergy in range of 0.5 to 2.5 percent in the general population.[1][38][47] Prevalence is higher in coastal southeast Asian countries, where shellfish consumption is more common.[1][11][48][49] Self-reported allergy prevalence is always higher than food-challenge confirmed allergy, which one review put at 0% to 0.9% (the higher value in southeast Asia).[50]
## Society and culture[edit]
Whether food allergy prevalence is increasing or not, food allergy awareness has definitely increased, with impacts on the quality of life for children, their parents and their immediate caregivers.[51][52][53][54] In the United States, the Food Allergen Labeling and Consumer Protection Act of 2004 causes people to be reminded of allergy problems every time they handle a food package, and restaurants have added allergen warnings to menus. The Culinary Institute of America, a premier school for chef training, has courses in allergen-free cooking and a separate teaching kitchen.[55] School systems have protocols about what foods can be brought into the school. Despite all these precautions, people with serious allergies are aware that accidental exposure can easily occur at other peoples' houses, at school or in restaurants.[56] Food fear has a significant impact on quality of life.[53][54]
### Regulation of labelling[edit]
An example of "MAY CONTAIN TRACES OF..." as a means of listing trace amounts of allergens in a food product due to cross-contamination during manufacture.
In response to the risk that certain foods pose to those with food allergies, some countries have responded by instituting labeling laws that require food products to clearly inform consumers if their products contain major allergens or byproducts of major allergens among the ingredients intentionally added to foods. Nevertheless, there are no labeling laws to mandatory declare the presence of trace amounts in the final product as a consequence of cross-contamination.[57][58][59][60][61]
#### Ingredients intentionally added[edit]
In the United States, the Food Allergen Labeling and Consumer Protection Act of 2004 (FALCPA) requires companies to disclose on the label whether a packaged food product contains any of these eight major food allergens, added intentionally: cow's milk, peanuts, eggs, shellfish, fish, tree nuts, soy and wheat.[57] This list originated in 1999 from the World Health Organisation Codex Alimentarius Commission.[62] To meet FALCPA labeling requirements, if an ingredient is derived from one of the required-label allergens, then it must either have its "food sourced name" in parentheses, for example "Casein (milk)," or as an alternative, there must be a statement separate but adjacent to the ingredients list: "Contains milk" (and any other of the allergens with mandatory labeling).[57][59] The European Union requires listing for those eight major allergens plus molluscs, celery, mustard, lupin, sesame and sulfites.[58]
FALCPA applies to packaged foods regulated by the FDA, which does not include poultry, most meats, certain egg products, and most alcoholic beverages.[63] However, some meat, poultry, and egg processed products may contain allergenic ingredients. These products are regulated by the Food Safety and Inspection Service (FSIS), which requires that any ingredient be declared in the labeling only by its common or usual name. Neither the identification of the source of a specific ingredient in a parenthetical statement nor the use of statements to alert for the presence of specific ingredients, like "Contains: milk", are mandatory according to FSIS.[60][61] FALCPA also does not apply to food prepared in restaurants.[64][65] The EU Food Information for Consumers Regulation 1169/2011 requires food businesses to provide allergy information on food sold unpackaged. Examples would include by catering outlets and deli counters, bakeries and sandwich bars.[66]
## See also[edit]
* List of allergens (food and non-food)
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62. ^ Allen KJ, Turner PJ, Pawankar R, Taylor S, Sicherer S, Lack G, Rosario N, Ebisawa M, Wong G, Mills EN, Beyer K, Fiocchi A, Sampson HA (2014). "Precautionary labelling of foods for allergen content: are we ready for a global framework?". World Allergy Organ J. 7 (1): 1–14. doi:10.1186/1939-4551-7-10. PMC 4005619. PMID 24791183.
63. ^ FDA (18 December 2017). "Food Allergies: What You Need to Know". Retrieved 12 January 2018.
64. ^ Roses JB (2011). "Food allergen law and the Food Allergen Labeling and Consumer Protection Act of 2004: falling short of true protection for food allergy sufferers". Food Drug Law J. 66 (2): 225–42, ii. PMID 24505841.
65. ^ FDA (18 July 2006). "Food Allergen Labeling And Consumer Protection Act of 2004 Questions and Answers". Retrieved 12 March 2018.
66. ^ "Allergy and intolerance: guidance for businesses". Archived from the original on 2014-12-08. Retrieved 2014-12-12.
## External links[edit]
Classification
D
* ICD-10: T78.0, T78.1, L23.6, L27.2, Z91.0
* MeSH: D000067208
* v
* t
* e
Allergic conditions
Respiratory system
* Allergic rhinitis (hay fever)
* Asthma
* Hypersensitivity pneumonitis
* Eosinophilic pneumonia
* Eosinophilic granulomatosis with polyangiitis
* Allergic bronchopulmonary aspergillosis
* Farmer's lung
* Laboratory animal allergy
Skin
* Angioedema
* Urticaria
* Atopic dermatitis
* Allergic contact dermatitis
* Hypersensitivity vasculitis
Blood and immune system
* Serum sickness
Circulatory system
* Anaphylaxis
Digestive system
* Coeliac disease
* Eosinophilic gastroenteritis
* Eosinophilic esophagitis
* Food allergy
* Egg allergy
* Milk intolerance
Nervous system
* Eosinophilic meningitis
Genitourinary system
* Acute interstitial nephritis
Other conditions
* Drug allergy
* Allergic conjunctivitis
* Latex allergy
* v
* t
* e
Hypersensitivity and autoimmune diseases
Type I/allergy/atopy
(IgE)
Foreign
* Atopic eczema
* Allergic urticaria
* Allergic rhinitis (Hay fever)
* Allergic asthma
* Anaphylaxis
* Food allergy
* common allergies include: Milk
* Egg
* Peanut
* Tree nut
* Seafood
* Soy
* Wheat
* Penicillin allergy
Autoimmune
* Eosinophilic esophagitis
Type II/ADCC
* * IgM
* IgG
Foreign
* Hemolytic disease of the newborn
Autoimmune
Cytotoxic
* Autoimmune hemolytic anemia
* Immune thrombocytopenic purpura
* Bullous pemphigoid
* Pemphigus vulgaris
* Rheumatic fever
* Goodpasture syndrome
* Guillain–Barré syndrome
"Type V"/receptor
* Graves' disease
* Myasthenia gravis
* Pernicious anemia
Type III
(Immune complex)
Foreign
* Henoch–Schönlein purpura
* Hypersensitivity vasculitis
* Reactive arthritis
* Farmer's lung
* Post-streptococcal glomerulonephritis
* Serum sickness
* Arthus reaction
Autoimmune
* Systemic lupus erythematosus
* Subacute bacterial endocarditis
* Rheumatoid arthritis
Type IV/cell-mediated
(T cells)
Foreign
* Allergic contact dermatitis
* Mantoux test
Autoimmune
* Diabetes mellitus type 1
* Hashimoto's thyroiditis
* Multiple sclerosis
* Coeliac disease
* Giant-cell arteritis
* Postorgasmic illness syndrome
* Reactive arthritis
GVHD
* Transfusion-associated graft versus host disease
Unknown/
multiple
Foreign
* Hypersensitivity pneumonitis
* Allergic bronchopulmonary aspergillosis
* Transplant rejection
* Latex allergy (I+IV)
Autoimmune
* Sjögren syndrome
* Autoimmune hepatitis
* Autoimmune polyendocrine syndrome
* APS1
* APS2
* Autoimmune adrenalitis
* Systemic autoimmune 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-aminobutyric 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
|
Shellfish allergy
|
c0577625
| 26,571 |
wikipedia
|
https://en.wikipedia.org/wiki/Shellfish_allergy
| 2021-01-18T18:35:46 |
{"mesh": ["D000067208"], "umls": ["C0577625"], "wikidata": ["Q23037743"]}
|
Hepatic encephalopathy is a syndrome observed in some patients with cirrhosis. It is defined as a spectrum of neuropsychiatric abnormalities in patients with liver dysfunction, when other known brain disease has been excluded. Signs and symptoms may be debilitating, and they can begin mildly and gradually, or occur suddenly and severely. They may include personality or mood changes, intellectual impairment, abnormal movements, a depressed level of consciousness, and other symptoms. There are several theories regarding the exact cause, but development of the condition is probably at least partially due to the effect of substances that are toxic to nerve tissue (neurotoxic), which are typically present with liver damage and/or liver disease. Treatment depends upon the severity of mental status changes and upon the certainty of the diagnosis.
*[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-aminobutyric 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
|
Hepatic encephalopathy
|
c0019151
| 26,572 |
gard
|
https://rarediseases.info.nih.gov/diseases/10452/hepatic-encephalopathy
| 2021-01-18T18:00:05 |
{"mesh": ["D006501"], "umls": ["C0019151"], "synonyms": ["Hepatoencephalopathy", "Encephalopathy, hepatic"]}
|
Bilateral vestibulopathy results as the culmination of damage done to both inner ears. Bilateral vestibulopathy causes problems in hearing balance, and motor coordination.
## Contents
* 1 Symptoms
* 2 Diagnosis
* 3 Treatment
* 4 References
## Symptoms[edit]
Symptoms typically include imbalance and visual problems. Dark or unsure situations generally increase this imbalance. The imbalance is worse in the dark or in situations where footing is uncertain. Spinning vertigo is unusual. Oscillopsia, visual symptoms of bilateral vestibulopathy, occur only when the head is moving.[1] For instance, when driving, a person with bilateral vestibulopathy may see very blurry objects. Oscillopsia is often common during walking.[2] Transient visual blurring occurs with quick movements of the head.
## Diagnosis[edit]
A review of symptoms, a medical history, and a physical examination or vestibular tests in a rotary chair are needed to make the diagnosis. There are several different causes of bilateral vestibulopathy, including gentamicin toxicity, but the rotary chair test will determine the effects on both ears. Tests for syphilis, an antibody test for autoimmune inner ear disease or audiograms may also be important.
## Treatment[edit]
Treatment differs depending on the cause. Each cause has a different treatment, and may involve either medical treatment, surgery, or therapy. If serious damage has already been done, then the focus of treatment is upon avoidance of vestibular suppressants and ototoxins including medications. Vestibular rehabilitation is important. Physicians will try to keep the administration of drugs to a minimum.[3]
## References[edit]
1. ^ J.C. Living without a balancing mechanism. New England Journal of Medicine 246:458-, 1952
2. ^ Freyss G, Vitte E, Semont A, Tran-Ba-Huy P, Gaillard P. Computation of eye-head movements in oscllopsic patients: modifications: modifications induced by re-education. Adv ORL 42:294-300, 1988
3. ^ Bilateral Vestibulopathy at the American Hearing Research Foundation Chicago, Illinois 2008.
*[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-aminobutyric 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
|
Bilateral vestibulopathy
|
c4255193
| 26,573 |
wikipedia
|
https://en.wikipedia.org/wiki/Bilateral_vestibulopathy
| 2021-01-18T18:39:55 |
{"mesh": ["D000071699"], "orphanet": ["171684"], "synonyms": [], "wikidata": ["Q4907586"]}
|
Not to be confused with Multiple complex developmental disorder.
Multisystem developmental disorder (MSDD) is a term used by Stanley Greenspan to describe children under age 3 who exhibit signs of impaired communication as in autism, but with strong emotional attachments atypical of autism.[citation needed] It is described in the DC:0-3R manual as an optional diagnosis for children under two years of age.[1][2]
## Contents
* 1 Other uses of the term
* 2 Symptoms
* 3 References
* 4 Further reading
## Other uses of the term[edit]
The term multisystem developmental disorder has also been used to describe various developmental disorders. These include:
* Alagille syndrome,[3] an autosomal dominant disorder with a wide range of features and manifestations. Its five most significant features are chronic cholestasis, a condition where bile cannot flow from the liver to the duodenum, occurring in 95% of cases; heart abnormalities (over 90%); butterfly vertebrae; posterior embryotoxon and a distinctive face (prominent forehead, deep-set eyes, and a pointed chin).[4]
* Rubinstein-Taybi syndrome,[5] a mental retardation syndrome characterized by broad thumbs, facial abnormalities, and big toes alongside mental retardation.[6]
* Williams syndrome,[7][8] a neurodevelopmental disorder characterized by a unique profile of strengths and deficits; most with the condition have mild mental retardation but have grammatical and lexical abilities above what would be expected from their IQs.[9] They are hypersocial and empathetic, but social isolation is commonly experienced.[10]
* Proteus syndrome,[11] a congenital disorder causing disproportionate growth of skin, bone, and other tissues.[12]
* Asphyxiating thoracic dysplasia,[13] a autosomal recessive skeletal disorder with an estimated prevalence of between 1 in 100,000 and 1 in 130,000 live births.[14]
## Symptoms[edit]
* Toe walking[15]
* Pragmatic speech problems[15]
* Clumsiness[15]
* Obsessions and rituals[15]
* Sensory issues[15]
* Disinterest in social interaction[15]
* Autistic characteristics[15]
## References[edit]
1. ^ Egger, HL; Emde, RN (2011). "Developmentally sensitive diagnostic criteria for mental health disorders in early childhood: The diagnostic and statistical manual of mental disorders—IV, the research diagnostic criteria—preschool age, and the Diagnostic Classification of Mental Health and Developmental Disorders of Infancy and Early Childhood—Revised". American Psychologist. 66 (2): 95–106. doi:10.1037/a0021026. PMC 3064438. PMID 21142337.
2. ^ Oztop, D; Uslu, R (2007). "Behavioral, interactional and developmental symptomatology in toddlers of depressed mothers: A preliminary clinical study within the DC:0-3 framework". The Turkish Journal of Pediatrics. 49 (2): 171–8. PMID 17907517.
3. ^ Kamath, BM; Stolle, C; Bason, L; Colliton, RP; et al. (2002). "Craniosynostosis in Alagille syndrome". American Journal of Medical Genetics. 112 (2): 176–80. doi:10.1002/ajmg.10608. PMID 12244552.
4. ^ Turnpenny, PD; Ellard, S (2011). "Alagille syndrome: Pathogenesis, diagnosis and management". European Journal of Human Genetics. 20 (3): 251–7. doi:10.1038/ejhg.2011.181. PMC 3283172. PMID 21934706.
5. ^ Hendrix, JD, Jr; Greer, KE (1996). "Rubinstein-Taybi syndrome with multiple flamboyant keloids". Cutis; cutaneous medicine for the practitioner. 57 (5): 346–8. PMID 8726717.
6. ^ Melekos, M; Barbalias, G; Asbach, HW (1987). "Rubinstein-Taybi syndrome". Urology. 30 (3): 238–9. doi:10.1016/0090-4295(87)90242-1. PMID 3629765.
7. ^ Rio, T; Urbán, Z; Csiszár, K; Boyd, CD (2008). "A gene-dosage PCR method for the detection of elastin gene deletions in patients with Williams syndrome". Clinical Genetics. 54 (2): 129–35. doi:10.1111/j.1399-0004.1998.tb03715.x. PMID 9761391.
8. ^ Scheiber, D; Fekete, G; Urban, Z; Tarjan, I; et al. (2006). "Echocardiographic findings in patients with Williams-Beuren syndrome". Wiener Klinische Wochenschrift. 118 (17–18): 538–42. doi:10.1007/s00508-006-0658-2. PMID 17009066.
9. ^ Bellugi, U; Wang, PP; Jernigan, TL (1994). "Williams Syndrome: An Unusual Neuropsychological Profile". In Broman, SH; Grafman, J (eds.). Atypical Cognitive Deficits in Developmental Disorders: Implications for Brain Function. pp. 23–56. ISBN 978-0-8058-1180-3.
10. ^ Morris, CA; Lenhoff, HM; Wang, PP (2006-02-13). Williams-Beuren Syndrome: Research, Evaluation, and Treatment. p. 237. ISBN 9780801882128.
11. ^ Kaduthodil, M; Prasad, D; Lowe, A; Punekar, A; et al. (2012). "Imaging manifestations in Proteus syndrome: An unusual multisystemdevelopmental disorder". British Journal of Radiology. 85 (1017): e793–9. doi:10.1259/bjr/92343528. PMC 3487101. PMID 22514103.
12. ^ Tosi, LL; Sapp, JC; Allen, ES; O’Keefe, RJ; et al. (2011). "Assessment and management of the orthopedic and other complications of Proteus syndrome". Journal of Children's Orthopaedics. 5 (5): 319–27. doi:10.1007/s11832-011-0350-6. PMC 3179535. PMID 23024722.
13. ^ Morgan, NV; Bacchelli, C; Gissen, P; Morton, J; et al. (2003). "A locus for asphyxiating thoracic dystrophy, ATD, maps to chromosome 15q13". Journal of Medical Genetics. 40 (6): 431–5. doi:10.1136/jmg.40.6.431. PMC 1735497. PMID 12807964.
14. ^ Tongsong, Theera; Chanprapaph, Pharuhus; Thongpadungroj, Tidarat (1999-08-01). "Prenatal sonographic findings associated with asphyxiating thoracic dystrophy (Jeune syndrome)". Journal of Ultrasound in Medicine. 18 (8): 573–6. PMID 10447085.
15. ^ a b c d e f g Woliver, Robbie (2009). Alphabet Kids. Jessica Kingsley Publishers. p. 295.
## Further reading[edit]
* Scheeringa, MS (2001). "The differential diagnosis of impaired reciprocal social interaction in children: A review of disorders". Child Psychiatry and Human Development. 32 (1): 71–89. doi:10.1023/A:1017511714145. PMID 11579660.
* Increasing Interaction with Children with Multisystem Developmental Disorder (MSDD), Developmental Delay Resources
* Wieder, S (1996). "Integrated treatment approaches for young children with multisystem developmental disorder". Infants & Young Children. 8 (3): 24–34. doi:10.1097/00001163-199601000-00005.
* v
* t
* e
Pervasive developmental disorders and autism spectrum
Main
* Causes
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* Epidemiology
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* Societal and cultural aspects
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Diagnoses
* Autism spectrum (High-functioning autism
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Related conditions
* Alexithymia
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Controversies
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Diagnostic scales
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* Autism Diagnostic Interview
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Lists
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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-aminobutyric 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
|
Multisystem developmental disorder
|
None
| 26,574 |
wikipedia
|
https://en.wikipedia.org/wiki/Multisystem_developmental_disorder
| 2021-01-18T19:04:22 |
{"wikidata": ["Q6935111"]}
|
Marie et al. (1967) described 6 cases in 3 generations.
Neck \- Bilateral parotid gland enlargement 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-aminobutyric 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
|
PAROTIDOMEGALY, HEREDITARY BILATERAL
|
c1868590
| 26,575 |
omim
|
https://www.omim.org/entry/168800
| 2019-09-22T16:36:32 |
{"mesh": ["C566821"], "omim": ["168800"]}
|
Intestinal pseudo-obstruction is a condition characterized by impairment of the muscle contractions that move food through the digestive tract. It can occur at any time of life, and its symptoms range from mild to severe. The condition may arise from abnormalities of the gastrointestinal muscles themselves (myogenic) or from problems with the nerves that control the muscle contractions (neurogenic).
Intestinal pseudo-obstruction leads to a buildup of partially digested food in the intestines. This buildup can cause abdominal swelling (distention) and pain, nausea, vomiting, and constipation or diarrhea. Affected individuals experience loss of appetite and impaired ability to absorb nutrients, which may lead to malnutrition. These symptoms resemble those of an intestinal blockage (obstruction), but in intestinal pseudo-obstruction no blockage is found.
Depending on the cause of intestinal pseudo-obstruction, affected individuals can have additional signs and symptoms. Some people with intestinal pseudo-obstruction have bladder dysfunction such as an inability to pass urine. Other features may include decreased muscle tone (hypotonia) or stiffness (spasticity) of the torso and limbs, weakness in the muscles that control eye movement (ophthalmoplegia), intellectual disability, seizures, unusual facial features, or recurrent infections.
When intestinal pseudo-obstruction occurs by itself, it is called primary or idiopathic intestinal pseudo-obstruction. The disorder can also develop as a complication of another health problem; in these cases, it is called secondary intestinal pseudo-obstruction. The condition can be episodic (acute) or persistent (chronic).
## Frequency
The overall prevalence of intestinal pseudo-obstruction is unknown. Researchers in Japan have estimated the prevalence of chronic intestinal pseudo-obstruction in that country as 9 cases per million people.
## Causes
In some individuals with primary intestinal pseudo-obstruction, the condition is caused by genetic changes affecting the FLNA or ACTG2 gene.
The protein produced from the FLNA gene, filamin A, attaches (binds) to proteins called actins and helps them form the branching network of filaments that make up the cytoskeleton, which gives structure to cells and allows them to change shape and move. FLNA gene mutations that cause intestinal pseudo-obstruction are thought to reduce levels of the filamin A protein or impair its function. Research suggests that decreased filamin A function may affect the shape of cells in the smooth muscles of the gastrointestinal tract during development before birth, causing abnormalities in the layering of these muscles. Smooth muscles line the internal organs; they contract and relax without being consciously controlled. In the gastrointestinal tract, abnormal layering of these muscles interferes with the ability to produce the coordinated waves of contractions (peristalsis) that move food along during digestion.
Deletions or duplications of genetic material can affect all or part of the FLNA gene, and may also include adjacent genes on the X chromosome. Changes in adjacent genes may account for some of the other signs and symptoms that can occur with intestinal pseudo-obstruction.
The ACTG2 gene provides instructions for making a member of the actin family called gamma (γ)-2 actin. The γ-2 actin protein is found in smooth muscle cells of the intestinal and urinary tracts. It is necessary for contraction of the smooth muscles in the intestines and bladder. These contractions move food through the intestines as part of the digestive process and empty urine from the bladder. ACTG2 gene mutations hinder the formation of actin filaments in the cytoskeleton and reduce the ability of smooth muscles in the intestines and bladder to contract, leading to the signs and symptoms of intestinal pseudo-obstruction.
Secondary intestinal pseudo-obstruction occurs as a complication of other disorders that damage muscles or nerves in the intestinal tract, such as Parkinson disease, type 2 diabetes, various types of muscular dystrophy, or Kawasaki disease. Additionally, the condition is a characteristic feature of certain inherited syndromes such as megacystis-microcolon-intestinal hypoperistalsis syndrome (MMIHS) or mitochondrial neurogastrointestinal encephalopathy disease (MNGIE disease). Infections, surgery, or certain drugs can also cause secondary intestinal pseudo-obstruction.
Mutations in other genes involved in smooth muscle contraction can also cause intestinal pseudo-obstruction. Studies suggest that mutations in additional genes that have not been identified can also result in this condition. In some affected individuals, the cause of intestinal pseudo-obstruction is unknown.
### Learn more about the genes and chromosome associated with Intestinal pseudo-obstruction
* ACTG2
* FLNA
* MYH11
* x chromosome
Additional Information from NCBI Gene:
* LMOD1
* MYLK
## Inheritance Pattern
Intestinal pseudo-obstruction is often not inherited, and most affected individuals do not have a family history of the disorder. When it does run in families, it can have different inheritance patterns.
Intestinal pseudo-obstruction caused by FLNA gene mutations is inherited in an X-linked recessive pattern. The FLNA gene is located on the X chromosome, which is one of the two sex chromosomes. In males (who have only one X chromosome), one altered copy of the gene in each cell is sufficient to cause the condition. In females (who have two X chromosomes), a mutation would have to occur in both copies of the gene to cause the disorder. Because it is unlikely that females will have two altered copies of this gene, males are affected by X-linked recessive disorders much more frequently than females. A characteristic of X-linked inheritance is that fathers cannot pass X-linked traits to their sons.
Intestinal pseudo-obstruction caused by ACTG2 gene mutations is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder.
Some other cases of intestinal pseudo-obstruction are 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-aminobutyric 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
|
Intestinal pseudo-obstruction
|
c1855732
| 26,576 |
medlineplus
|
https://medlineplus.gov/genetics/condition/intestinal-pseudo-obstruction/
| 2021-01-27T08:25:50 |
{"gard": ["6789"], "mesh": ["C538341"], "omim": ["243185", "300048", "277320", "609629", "243180"], "synonyms": []}
|
A very rare, malignant, epithelial tumor of the pancreas characterized, macroscopically, by a usually large, well-circumscribed, fully or partially encapsulated, solid mass, often with hemorrhage, necrosis and cystic changes, in any portion of the pancreas and, histologically, by neoplastic cells with variable degrees of differentiation and morphology, ranging from acinar structures similar to normal pancreatic acini to large sheets of poorly differentiated neoplastic cells. Presenting symptoms are typically non-specific and include abdominal pain, weight loss, vomiting, nausea, and/or, less commonly, jaundice. Immunohistochemical evidence of acinar-specific products is observed. Association with Lynch syndrome, familial adenomatous polyposis, and pancreatic panniculitis 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-aminobutyric 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
|
Acinar cell carcinoma of pancreas
|
c0279661
| 26,577 |
orphanet
|
https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=424046
| 2021-01-23T18:53:05 |
{"umls": ["C0279661"], "icd-10": ["C25.0", "C25.1", "C25.2", "C25.7", "C25.8"], "synonyms": ["Pancreatic acinar cell carcinoma"]}
|
Familial partial lipodystrophy
Other namesFPLD[1]
SpecialtyDermatology, endocrinology
Familial partial lipodystrophy, also known as Köbberling–Dunnigan syndrome,[2] is a rare genetic metabolic condition characterized by the loss of subcutaneous fat.[3]:495
FPL also refers to a rare metabolic condition in which there is a loss of subcutaneous fat in the arms, legs and lower torso. The upper section of the body, face, neck, shoulders, back and trunk carry an excess amount of fat.
As the body is unable to store fat correctly this leads to fat around all the vital organs and in the blood (triglycerides). This results in heart problems, cirrhosis of the liver, lipoatrophic diabetes, and pancreatitis, along with various other complications.
## Contents
* 1 Types
* 2 Presentation
* 3 Genetics
* 4 Diagnosis
* 5 Treatment
* 6 Prevalence
* 7 See also
* 8 References
* 9 External links
## Types[edit]
OMIM Name Locus
608600 FPLD1 (Kobberling-type, loss from extremities) ?
151660 FPLD2 (Dunnigan-type, loss from limbs and trunk) LMNA; 1q21.2
604367 FPLD3 PPARG; 7q11.23-q21.11, 3p25
## Presentation[edit]
Type 1 is believed to be underdiagnosed.[4]
## Genetics[edit]
A mutations in a number of genes have been associated with this condition. Mutations associated with FPL have been reported in LMNA (lamin A/C), PPARG (PPARγ), AKT2 (AKT serine/threonine kinase 2), PLIN1 (perilipin-1), and CIDEC (cell-death-inducing DFFA-like effector B).[5]
Six types (1-6) have been described. Types 1-5 are inherited in an autosomal dominant fashion.
Type 1 (Kobberling variety, FPL1) is very rare and has only been reported in women to date. Fat loss is confined to the limbs and mostly in the distal parts. Central obesity may be present. Complications include hypertension, insulin resistance and hypertriglyceridemia. The gene causing this condition is not yet known. This form was first described in 1975.
Type 2 (Dunnigan Variety, FPL2) is the most common form and is due to mutations in the LMNA gene. Over 500 cases have been reported to date. Development up to puberty is normal. Fat is then gradually lost in is the limbs and trunk. Fat may accumulate around the face and between the shoulder blades. Insulin resistance is common. Other conditions associated with this condition include acanthosis nigricans, fatty liver, hypertriglyceridemia and polycystic ovary syndrome in women. There is an increased risk of coronary heart disease. Cardiomyopathy and muscular dystrophy may occur rarely. Xanthoma and nail changes may occur.
Type 3 is due to mutations in the PPARG gene. It is rare with approximately 30 cases reported to date. It is similar to type 2 but tends to be milder.
Type 4 is due to mutations in the PLIN1 gene. It is rare with only a small number of cases reported. Fat loss tends to affect the lower limbs and buttocks. Insulin resistance and hypertriglyceridemia occur. Calf muscular hypertrophy may occur.
Type 5 is due to mutations in the AKT2 gene. It has been reported in four patients all members of the same family. Fat loss affects the upper and lower limbs. The patients also suffered from hypertension, insulin resistance and hypertriglyceridemia.
Type 6 due to mutations in the CIDEC gene. It is inherited in an autosomal recessive fashion and has been reported in only one patient to date. Features included fat loss, severe insulin resistance, fatty liver, acanthosis nigricans and diabetes.
Another gene that has been associated with this condition is AGPAT2.[6]
## Diagnosis[edit]
This section is empty. You can help by adding to it. (September 2017)
## Treatment[edit]
This section is empty. You can help by adding to it. (September 2017)
## Prevalence[edit]
This not known with certainty but is estimated to be about one per million. It appears to be more common in females than males.
## See also[edit]
* Lipodystrophy
* List of cutaneous conditions
## References[edit]
1. ^ RESERVED, INSERM US14-- ALL RIGHTS. "Orphanet: Familial partial lipodystrophy". www.orpha.net. Retrieved 27 April 2019.
2. ^ Rapini, Ronald P.; Bolognia, Jean L.; Jorizzo, Joseph L. (2007). Dermatology: 2-Volume Set. St. Louis: Mosby. pp. 1541–2, 1543. ISBN 978-1-4160-2999-1.
3. ^ James, William D.; Berger, Timothy G.; et al. (2006). Andrews' Diseases of the Skin: clinical Dermatology. Saunders Elsevier. ISBN 978-0-7216-2921-6.
4. ^ Herbst KL, Tannock LR, Deeb SS, Purnell JQ, Brunzell JD, Chait A (June 2003). "Köbberling type of familial partial lipodystrophy: an underrecognized syndrome". Diabetes Care. 26 (6): 1819–24. doi:10.2337/diacare.26.6.1819. PMID 12766116.
5. ^ Garg A (2011). "Clinical review#: Lipodystrophies: genetic and acquired body fat disorders". J. Clin. Endocrinol. Metab. 96 (11): 3313–25. doi:10.1210/jc.2011-1159. PMID 21865368.
6. ^ Broekema MF, Massink MPG, De Ligt J, Stigter ECA, Monajemi H, De Ridder J, Burgering BMT, van Haaften GW, Kalkhoven E (2018) A single complex Agpat2 allele in a patient With partial lipodystrophy. Front Physiol 9:1363. doi: 10.3389/fphys.2018.01363.
## External links[edit]
Classification
D
* ICD-10: E88.1
* OMIM: 608600
* MeSH: D052496
External resources
* Orphanet: 98306
* v
* t
* e
Disorders of subcutaneous fat
Panniculitis
Lobular
* without vasculitis
* Cold
* Cytophagic histiocytic
* Factitial
* Gouty
* Pancreatic
* Traumatic
* needle-shaped clefts
* Subcutaneous fat necrosis of the newborn
* Sclerema neonatorum
* Post-steroid panniculitis
* Lipodermatosclerosis
* Weber–Christian disease
* Lupus erythematosus panniculitis
* Sclerosing lipogranuloma
* with vasculitis: Nodular vasculitis/Erythema induratum
Septal
* without vasculitis: Alpha-1 antitrypsin deficiency panniculitis
* Erythema nodosum
* Acute
* Chronic
* with vasculitis: Superficial thrombophlebitis
Lipodystrophy
Acquired
* generalized: Acquired generalized lipodystrophy
* partial: Acquired partial lipodystrophy
* Centrifugal abdominal lipodystrophy
* HIV-associated lipodystrophy
* Lipoatrophia annularis
* localized: Localized lipodystrophy
Congenital
* Congenital generalized lipodystrophy
* Familial partial lipodystrophy
* Marfanoid–progeroid–lipodystrophy syndrome
* Poland syndrome
* v
* t
* e
Cytoskeletal defects
Microfilaments
Myofilament
Actin
* Hypertrophic cardiomyopathy 11
* Dilated cardiomyopathy 1AA
* DFNA20
* Nemaline myopathy 3
Myosin
* Elejalde syndrome
* Hypertrophic cardiomyopathy 1, 8, 10
* Usher syndrome 1B
* Freeman–Sheldon syndrome
* DFN A3, 4, 11, 17, 22; B2, 30, 37, 48
* May–Hegglin anomaly
Troponin
* Hypertrophic cardiomyopathy 7, 2
* Nemaline myopathy 4, 5
Tropomyosin
* Hypertrophic cardiomyopathy 3
* Nemaline myopathy 1
Titin
* Hypertrophic cardiomyopathy 9
Other
* Fibrillin
* Marfan syndrome
* Weill–Marchesani syndrome
* Filamin
* FG syndrome 2
* Boomerang dysplasia
* Larsen syndrome
* Terminal osseous dysplasia with pigmentary defects
IF
1/2
* Keratinopathy (keratosis, keratoderma, hyperkeratosis): KRT1
* Striate palmoplantar keratoderma 3
* Epidermolytic hyperkeratosis
* IHCM
* KRT2E (Ichthyosis bullosa of Siemens)
* KRT3 (Meesmann juvenile epithelial corneal dystrophy)
* KRT4 (White sponge nevus)
* KRT5 (Epidermolysis bullosa simplex)
* KRT8 (Familial cirrhosis)
* KRT10 (Epidermolytic hyperkeratosis)
* KRT12 (Meesmann juvenile epithelial corneal dystrophy)
* KRT13 (White sponge nevus)
* KRT14 (Epidermolysis bullosa simplex)
* KRT17 (Steatocystoma multiplex)
* KRT18 (Familial cirrhosis)
* KRT81/KRT83/KRT86 (Monilethrix)
* Naegeli–Franceschetti–Jadassohn syndrome
* Reticular pigmented anomaly of the flexures
3
* Desmin: Desmin-related myofibrillar myopathy
* Dilated cardiomyopathy 1I
* GFAP: Alexander disease
* Peripherin: Amyotrophic lateral sclerosis
4
* Neurofilament: Parkinson's disease
* Charcot–Marie–Tooth disease 1F, 2E
* Amyotrophic lateral sclerosis
5
* Laminopathy: LMNA
* Mandibuloacral dysplasia
* Dunnigan Familial partial lipodystrophy
* Emery–Dreifuss muscular dystrophy 2
* Limb-girdle muscular dystrophy 1B
* Charcot–Marie–Tooth disease 2B1
* LMNB
* Barraquer–Simons syndrome
* LEMD3
* Buschke–Ollendorff syndrome
* Osteopoikilosis
* LBR
* Pelger–Huet anomaly
* Hydrops-ectopic calcification-moth-eaten skeletal dysplasia
Microtubules
Kinesin
* Charcot–Marie–Tooth disease 2A
* Hereditary spastic paraplegia 10
Dynein
* Primary ciliary dyskinesia
* Short rib-polydactyly syndrome 3
* Asphyxiating thoracic dysplasia 3
Other
* Tauopathy
* Cavernous venous malformation
Membrane
* Spectrin: Spinocerebellar ataxia 5
* Hereditary spherocytosis 2, 3
* Hereditary elliptocytosis 2, 3
Ankyrin: Long QT syndrome 4
* Hereditary spherocytosis 1
Catenin
* APC
* Gardner's syndrome
* Familial adenomatous polyposis
* plakoglobin (Naxos syndrome)
* GAN (Giant axonal neuropathy)
Other
* desmoplakin: Striate palmoplantar keratoderma 2
* Carvajal syndrome
* Arrhythmogenic right ventricular dysplasia 8
* plectin: Epidermolysis bullosa simplex with muscular dystrophy
* Epidermolysis bullosa simplex of Ogna
* plakophilin: Skin fragility syndrome
* Arrhythmogenic right ventricular dysplasia 9
* centrosome: PCNT (Microcephalic osteodysplastic primordial dwarfism type II)
Related topics: Cytoskeletal proteins
* v
* t
* e
Genetic disorders relating to deficiencies of transcription factor or coregulators
(1) Basic domains
1.2
* Feingold syndrome
* Saethre–Chotzen syndrome
1.3
* Tietz syndrome
(2) Zinc finger
DNA-binding domains
2.1
* (Intracellular receptor): Thyroid hormone resistance
* Androgen insensitivity syndrome
* PAIS
* MAIS
* CAIS
* Kennedy's disease
* PHA1AD pseudohypoaldosteronism
* Estrogen insensitivity syndrome
* X-linked adrenal hypoplasia congenita
* MODY 1
* Familial partial lipodystrophy 3
* SF1 XY gonadal dysgenesis
2.2
* Barakat syndrome
* Tricho–rhino–phalangeal syndrome
2.3
* Greig cephalopolysyndactyly syndrome/Pallister–Hall syndrome
* Denys–Drash syndrome
* Duane-radial ray syndrome
* MODY 7
* MRX 89
* Townes–Brocks syndrome
* Acrocallosal syndrome
* Myotonic dystrophy 2
2.5
* Autoimmune polyendocrine syndrome type 1
(3) Helix-turn-helix domains
3.1
* ARX
* Ohtahara syndrome
* Lissencephaly X2
* MNX1
* Currarino syndrome
* HOXD13
* SPD1 synpolydactyly
* PDX1
* MODY 4
* LMX1B
* Nail–patella syndrome
* MSX1
* Tooth and nail syndrome
* OFC5
* PITX2
* Axenfeld syndrome 1
* POU4F3
* DFNA15
* POU3F4
* DFNX2
* ZEB1
* Posterior polymorphous corneal dystrophy
* Fuchs' dystrophy 3
* ZEB2
* Mowat–Wilson syndrome
3.2
* PAX2
* Papillorenal syndrome
* PAX3
* Waardenburg syndrome 1&3
* PAX4
* MODY 9
* PAX6
* Gillespie syndrome
* Coloboma of optic nerve
* PAX8
* Congenital hypothyroidism 2
* PAX9
* STHAG3
3.3
* FOXC1
* Axenfeld syndrome 3
* Iridogoniodysgenesis, dominant type
* FOXC2
* Lymphedema–distichiasis syndrome
* FOXE1
* Bamforth–Lazarus syndrome
* FOXE3
* Anterior segment mesenchymal dysgenesis
* FOXF1
* ACD/MPV
* FOXI1
* Enlarged vestibular aqueduct
* FOXL2
* Premature ovarian failure 3
* FOXP3
* IPEX
3.5
* IRF6
* Van der Woude syndrome
* Popliteal pterygium syndrome
(4) β-Scaffold factors
with minor groove contacts
4.2
* Hyperimmunoglobulin E syndrome
4.3
* Holt–Oram syndrome
* Li–Fraumeni syndrome
* Ulnar–mammary syndrome
4.7
* Campomelic dysplasia
* MODY 3
* MODY 5
* SF1
* SRY XY gonadal dysgenesis
* Premature ovarian failure 7
* SOX10
* Waardenburg syndrome 4c
* Yemenite deaf-blind hypopigmentation syndrome
4.11
* Cleidocranial dysostosis
(0) Other transcription factors
0.6
* Kabuki syndrome
Ungrouped
* TCF4
* Pitt–Hopkins syndrome
* ZFP57
* TNDM1
* TP63
* Rapp–Hodgkin syndrome/Hay–Wells syndrome/Ectrodactyly–ectodermal dysplasia–cleft syndrome 3/Limb–mammary syndrome/OFC8
Transcription coregulators
Coactivator:
* CREBBP
* Rubinstein–Taybi syndrome
Corepressor:
* HR (Atrichia with papular lesions)
*[v]: 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-aminobutyric 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
|
Familial partial lipodystrophy
|
c1720861
| 26,578 |
wikipedia
|
https://en.wikipedia.org/wiki/Familial_partial_lipodystrophy
| 2021-01-18T19:03:55 |
{"gard": ["11962"], "mesh": ["D052496"], "umls": ["C1720861", "C1720860", "C0271694", "C1720859"], "orphanet": ["98306", "79083"], "wikidata": ["Q5432945"]}
|
Pityriasis rubra pilaris
Other namesDevergie's disease,[1] lichen ruber acuminatus,[1] and lichen ruber pilaris[1]
Arm with pityriasis rubra pilaris
SpecialtyDermatology
Pityriasis rubra pilaris refers to a group of chronic disorders characterized by reddish orange, scaling plaques and keratotic follicular papules.[2]:442 Symptoms may include reddish-orange patches (Latin: rubra) on the skin, severe flaking (Latin: pityriasis), uncomfortable itching, thickening of the skin on the feet and hands, and thickened bumps around hair follicles (Latin: pilus for hair). For some, early symptoms may also include generalized swelling of the legs, feet and other parts of the body. PRP has a varied clinical progression and a varied rate of improvement. There is currently no known cause or cure for PRP.
It was first described by Marie-Guillaume-Alphonse Devergie in 1856,[3] and the condition is also known as Devergie's disease.[4]
## Contents
* 1 Diagnosis
* 1.1 Classification
* 2 Treatment
* 3 See also
* 4 Footnotes
* 5 Further reading
* 6 External links
## Diagnosis[edit]
### Classification[edit]
Dr. W.A.D. Griffiths, from Great Britain, classified six forms of PRP in the early 1980s.[5] At this time, the causes of PRP are still unknown and symptoms can be difficult to diagnose. Frequently, more than one medical professional will be consulted before an accurate PRP diagnosis is made.[citation needed]
Dermatologists have identified both an acquired form and an inherited form (familial) of PRP and have described them in medical journals. The acquired form usually shows a spontaneous or gradual remission of symptoms within several years although long-term symptoms may continue for years. The inherited form starts early in childhood with persistent long-term symptoms into adulthood.[citation needed]
Although most people who develop PRP are over age 50, individuals of any age, race, and nationality can be affected. Women and men seem to be equally affected.[6]
## Treatment[edit]
Treatment with emollients is used to relieve symptoms of cracking and dryness. Application of lubricants under plastic occlusion before bedtime appears to aid removal of scales on hands and feet. Other topical options include: topical corticosteroids alone, or combined with keratolytics, such as urea and vitamin D3 analogues. The most effective therapy is long term use of oral retinoids, such as acitretin and isotretinoin. Other effective systemic approaches include: methotrexate, cyclosporin and corticosteroids. There are also reports that the monoclonal Ab ustekinumab (blocks IL-23/ IL-12) may be effective.
## See also[edit]
* List of cutaneous conditions
## Footnotes[edit]
1. ^ a b c Rapini, Ronald P.; Bolognia, Jean L.; Jorizzo, Joseph L. (2007). Dermatology: 2-Volume Set. St. Louis: Mosby. ISBN 978-1-4160-2999-1.
2. ^ Freedberg, et al. (2003). Fitzpatrick's Dermatology in General Medicine. (6th ed.). McGraw-Hill. ISBN 0-07-138076-0.
3. ^ Devergie M. G. A. (1856). "[Pityriasis pilaris, a skin disease not described by dermatologists] (Pityriasis pilaris, maladie de la peau non décrite par les dermatologistes)". Gazette Hebdomadaire de Médecine et de Chirurgie, Paris (in French). 3: 197–201.
4. ^ M. G. A. Devergie and the eponymous named Devergie's disease at Who Named It?
5. ^ "Pityriasis rubra pilaris". DermNZ (New Zealand Dermatological Society). 26 December 2006. Retrieved 2007-05-08. \- describes the various forms
6. ^ Allison DS, El-Azhary RA, Calobrisi SD, Dicken CH (2002). "Pityriasis rubra pilaris in children". Journal of the American Academy of Dermatology. 47 (3): 386–389. doi:10.1067/mjd.2002.124619. PMID 12196748.
## Further reading[edit]
* Dr. Griffith (June 1998). "Pityriasis rubra pilaris". In Champion R.H.; Burton J.L.; Burns D.A.; Breathnach S.M. (eds.). Textbook of Dermatology. 2 (6th ed.). pp. 1539–1545. ISBN 0-632-05064-0.
## External links[edit]
Classification
D
* ICD-10: L44.0
* ICD-9-CM: 696.4
* OMIM: 173200
* MeSH: D010916
* DiseasesDB: 29305
External resources
* MedlinePlus: 001471
* eMedicine: derm/337
* v
* t
* e
Diseases of the skin and appendages by morphology
Growths
Epidermal
* Wart
* Callus
* Seborrheic keratosis
* Acrochordon
* Molluscum contagiosum
* Actinic keratosis
* Squamous-cell carcinoma
* Basal-cell carcinoma
* Merkel-cell carcinoma
* Nevus sebaceous
* Trichoepithelioma
Pigmented
* Freckles
* Lentigo
* Melasma
* Nevus
* Melanoma
Dermal and
subcutaneous
* Epidermal inclusion cyst
* Hemangioma
* Dermatofibroma (benign fibrous histiocytoma)
* Keloid
* Lipoma
* Neurofibroma
* Xanthoma
* Kaposi's sarcoma
* Infantile digital fibromatosis
* Granular cell tumor
* Leiomyoma
* Lymphangioma circumscriptum
* Myxoid cyst
Rashes
With
epidermal
involvement
Eczematous
* Contact dermatitis
* Atopic dermatitis
* Seborrheic dermatitis
* Stasis dermatitis
* Lichen simplex chronicus
* Darier's disease
* Glucagonoma syndrome
* Langerhans cell histiocytosis
* Lichen sclerosus
* Pemphigus foliaceus
* Wiskott–Aldrich syndrome
* Zinc deficiency
Scaling
* Psoriasis
* Tinea (Corporis
* Cruris
* Pedis
* Manuum
* Faciei)
* Pityriasis rosea
* Secondary syphilis
* Mycosis fungoides
* Systemic lupus erythematosus
* Pityriasis rubra pilaris
* Parapsoriasis
* Ichthyosis
Blistering
* Herpes simplex
* Herpes zoster
* Varicella
* Bullous impetigo
* Acute contact dermatitis
* Pemphigus vulgaris
* Bullous pemphigoid
* Dermatitis herpetiformis
* Porphyria cutanea tarda
* Epidermolysis bullosa simplex
Papular
* Scabies
* Insect bite reactions
* Lichen planus
* Miliaria
* Keratosis pilaris
* Lichen spinulosus
* Transient acantholytic dermatosis
* Lichen nitidus
* Pityriasis lichenoides et varioliformis acuta
Pustular
* Acne vulgaris
* Acne rosacea
* Folliculitis
* Impetigo
* Candidiasis
* Gonococcemia
* Dermatophyte
* Coccidioidomycosis
* Subcorneal pustular dermatosis
Hypopigmented
* Tinea versicolor
* Vitiligo
* Pityriasis alba
* Postinflammatory hyperpigmentation
* Tuberous sclerosis
* Idiopathic guttate hypomelanosis
* Leprosy
* Hypopigmented mycosis fungoides
Without
epidermal
involvement
Red
Blanchable
Erythema
Generalized
* Drug eruptions
* Viral exanthems
* Toxic erythema
* Systemic lupus erythematosus
Localized
* Cellulitis
* Abscess
* Boil
* Erythema nodosum
* Carcinoid syndrome
* Fixed drug eruption
Specialized
* Urticaria
* Erythema (Multiforme
* Migrans
* Gyratum repens
* Annulare centrifugum
* Ab igne)
Nonblanchable
Purpura
Macular
* Thrombocytopenic purpura
* Actinic/solar purpura
Papular
* Disseminated intravascular coagulation
* Vasculitis
Indurated
* Scleroderma/morphea
* Granuloma annulare
* Lichen sclerosis et atrophicus
* Necrobiosis lipoidica
Miscellaneous
disorders
Ulcers
*
Hair
* Telogen effluvium
* Androgenic alopecia
* Alopecia areata
* Systemic lupus erythematosus
* Tinea capitis
* Loose anagen syndrome
* Lichen planopilaris
* Folliculitis decalvans
* Acne keloidalis nuchae
Nail
* Onychomycosis
* Psoriasis
* Paronychia
* Ingrown nail
Mucous
membrane
* Aphthous stomatitis
* Oral candidiasis
* Lichen planus
* Leukoplakia
* Pemphigus vulgaris
* Mucous membrane pemphigoid
* Cicatricial pemphigoid
* Herpesvirus
* Coxsackievirus
* Syphilis
* Systemic histoplasmosis
* Squamous-cell carcinoma
* v
* t
* e
Papulosquamous disorders
Psoriasis
Pustular
* Generalized pustular psoriasis (Impetigo herpetiformis)
* Acropustulosis/Pustulosis palmaris et plantaris (Pustular bacterid)
* Annular pustular psoriasis
* Localized pustular psoriasis
Other
* Guttate psoriasis
* Psoriatic arthritis
* Psoriatic erythroderma
* Drug-induced psoriasis
* Inverse psoriasis
* Napkin psoriasis
* Seborrheic-like psoriasis
Parapsoriasis
* Pityriasis lichenoides (Pityriasis lichenoides et varioliformis acuta, Pityriasis lichenoides chronica)
* Lymphomatoid papulosis
* Small plaque parapsoriasis (Digitate dermatosis, Xanthoerythrodermia perstans)
* Large plaque parapsoriasis (Retiform parapsoriasis)
Other pityriasis
* Pityriasis rosea
* Pityriasis rubra pilaris
* Pityriasis rotunda
* Pityriasis amiantacea
Other lichenoid
Lichen planus
* configuration
* Annular
* Linear
* morphology
* Hypertrophic
* Atrophic
* Bullous
* Ulcerative
* Actinic
* Pigmented
* site
* Mucosal
* Nails
* Peno-ginival
* Vulvovaginal
* overlap synromes
* with lichen sclerosus
* with lupus erythematosis
* other:
* Hepatitis-associated lichen planus
* Lichen planus pemphigoides
Other
* Lichen nitidus
* Lichen striatus
* Lichen ruber moniliformis
* Gianotti–Crosti syndrome
* Erythema dyschromicum perstans
* Idiopathic eruptive macular pigmentation
* Keratosis lichenoides chronica
* Kraurosis vulvae
* Lichen sclerosus
* Lichenoid dermatitis
* Lichenoid reaction of graft-versus-host 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-aminobutyric 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
|
Pityriasis rubra pilaris
|
c0032027
| 26,579 |
wikipedia
|
https://en.wikipedia.org/wiki/Pityriasis_rubra_pilaris
| 2021-01-18T18:34:12 |
{"gard": ["7401"], "mesh": ["D010916"], "umls": ["C0032027"], "orphanet": ["2897"], "wikidata": ["Q766856"]}
|
Acrokeratosis verruciformis
Other namesAcrokeratosis verruciformis of Hopf[1]
SpecialtyMedical genetics
Acrokeratosis verruciformis is a rare autosomal dominant disorder appearing at birth or in early childhood, characterized by skin lesions that are small, verrucous, flat papules resembling warts along with palmoplantar punctate keratoses and pits.[2][3] However sporadic forms, whose less than 10 cases have been reported, presents at a later age, usually after the first decade and generally lack palmoplantar keratoses. Whether acrokeratosis verruciformis and Darier disease are related or distinct entities has been controversial, like Darier's disease, it is associated with defects in the ATP2A2 gene.[4] however the specific mutations found in the ATP2A2 gene in acrokeratosis verruciformis have never been found in Darier's disease.[5]
## See also[edit]
* List of cutaneous conditions
* List of genes mutated in cutaneous conditions
## References[edit]
1. ^ Rapini, Ronald P.; Bolognia, Jean L.; Jorizzo, Joseph L. (2007). Dermatology: 2-Volume Set. St. Louis: Mosby. ISBN 978-1-4160-2999-1.
2. ^ Freedberg, et al. (2003). Fitzpatrick's Dermatology in General Medicine. (6th ed.). McGraw-Hill. ISBN 0-07-138076-0.
3. ^ James, William; Berger, Timothy; Elston, Dirk (2005). Andrews' Diseases of the Skin: Clinical Dermatology. (10th ed.). Saunders. ISBN 0-7216-2921-0.
4. ^ Dhitavat J, Macfarlane S, Dode L, et al. (February 2003). "Acrokeratosis verruciformis of Hopf is caused by mutation in ATP2A2: evidence that it is allelic to Darier's disease". J. Invest. Dermatol. 120 (2): 229–32. doi:10.1046/j.1523-1747.2003.t01-1-12045.x. PMID 12542527.
5. ^ Gupta, A.; Sharma, Y.K.; Vellarikkal, S.K.; Jayarajan, R.; Dixit, V.; Verma, A.; Sivasubbu, S.; Scaria, V. (January 2015). "Whole-exome sequencing solves diagnostic dilemma in a rare case of sporadic acrokeratosis verruciformis". Journal of the European Academy of Dermatology and Venereology. 30 (4): 695–697. doi:10.1111/jdv.12983. PMID 25622760. S2CID 35181817.
## External links[edit]
Classification
D
* ICD-10: Q82.8
* OMIM: 101900
* MeSH: D007644
* DiseasesDB: 3467
External resources
* eMedicine: article/1055892
* v
* t
* e
Genetic disorder, membrane: ATPase disorders
ATP1
* ATP1A2 (Alternating hemiplegia of childhood)
ATP2
* ATP2A1 (Brody myopathy)
* ATP2A2 (Darier's disease, Acrokeratosis verruciformis)
* ATP2C1 (Hailey–Hailey disease)
ATP7
* ATP7A (Menkes disease)
* ATP7B (Wilson's disease)
ATP13
* ATP13A2 (Kufor–Rakeb syndrome)
Other
* Osteopetrosis B1
see also ATPase
This Genodermatoses 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-aminobutyric 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
|
Acrokeratosis verruciformis
|
c0265971
| 26,580 |
wikipedia
|
https://en.wikipedia.org/wiki/Acrokeratosis_verruciformis
| 2021-01-18T19:06:29 |
{"mesh": ["D007644"], "umls": ["C0265971"], "icd-10": ["Q82.8"], "orphanet": ["79151"], "wikidata": ["Q4675784"]}
|
A number sign (#) is used with this entry because of evidence that congenital sick sinus syndrome-1 (SSS1) is caused by compound heterozygous mutation in the SCN5A gene (600163) on chromosome 3p22.
Description
The term 'sick sinus syndrome' encompasses a variety of conditions caused by sinus node dysfunction. The most common clinical manifestations are syncope, presyncope, dizziness, and fatigue. Electrocardiogram typically shows sinus bradycardia, sinus arrest, and/or sinoatrial block. Episodes of atrial tachycardias coexisting with sinus bradycardia ('tachycardia-bradycardia syndrome') are also common in this disorder. SSS occurs most often in the elderly associated with underlying heart disease or previous cardiac surgery, but can also occur in the fetus, infant, or child without heart disease or other contributing factors, in which case it is considered to be a congenital disorder (Benson et al., 2003).
### Genetic Heterogeneity of Sick Sinus Syndrome
Sick sinus syndrome-2 (SSS2; 163800) is caused by mutation in the HCN4 gene (605206).
Susceptibility to sick sinus syndrome (SSS3; 614090) is influenced by variation in the MYH6 gene (160710).
Clinical Features
Ward et al. (1984) described a brother and sister, aged 15 months and 3.5 years, respectively, with atrial standstill and inexcitability. Autopsy in the boy showed endocardial fibroelastosis of atria and ventricles.
Benson et al. (2003) reported 5 children from 3 families with autosomal recessive SSS characterized by sinus bradycardia, absent P waves, atrial inexcitability, prolonged QRS duration, prolonged His-ventricle conduction time, and ventricular escape rhythms. Age of onset was 2 to 9 years, and the disorder progressed from bradycardia to atrial inexcitability during the first decade of life. None of the patients had other evidence of heart disease.
Inheritance
The inheritance pattern of sick sinus syndrome in the families reported by Benson et al. (2003) was autosomal recessive.
Molecular Genetics
In 5 affected children from 3 kindreds with congenital SSS, Benson et al. (2003) identified compound heterozygosity for 6 distinct mutations in the SCN5A gene (e.g., 600163.0025). Heterozygous mutation carriers were asymptomatic, but some showed subclinical evidence of a latent cardiac conduction system disease, particularly first-degree heart block. Benson et al. (2003) noted that 2 of the mutations (e.g., G1408R, 600163.0026) had previously been associated with autosomal dominant disorders of cardiac excitability.
History
The sick sinus syndrome was originally described by Lown (1967) as a complicating arrhythmia following cardioversion.
INHERITANCE \- Autosomal recessive CARDIOVASCULAR Heart \- Sinus bradycardia \- Sinus arrest \- Atrial inexcitability \- Irregular heartbeat \- Absent P waves \- Prolonged QRS duration \- Ventricular escape rhythms \- Increased His-ventricular conduction time \- No structural defects \- Heterozygous mutation carriers may show first-degree heart block or conduction delay MISCELLANEOUS \- Onset in utero, infancy, or early childhood MOLECULAR BASIS \- Caused by mutation in the sodium channel, voltage-gated, type V, alpha polypeptide gene (SCN5A, 600163.0025 ) ▲ 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-aminobutyric 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
|
SICK SINUS SYNDROME 1
|
c0037052
| 26,581 |
omim
|
https://www.omim.org/entry/608567
| 2019-09-22T16:07:38 |
{"doid": ["13884"], "mesh": ["D012804"], "omim": ["608567"], "orphanet": ["166282"], "synonyms": ["Alternative titles", "SINUS RHYTHM, CONGENITAL ABSENCE OF", "SINUS NODE DISEASE, FAMILIAL, AUTOSOMAL RECESSIVE", "SICK SINUS SYNDROME, CONGENITAL", "SINUS BRADYCARDIA SYNDROME, FAMILIAL"]}
|
Lamellar ichthyosis (LI) is a keratinization disorder characterized by the presence of large scales all over the body without significant erythroderma.
## Epidemiology
It is the most common variant of autosomal recessive congenital ichthyosis (ARCI; see this term). Prevalence is estimated approximately at 1/100,000-1/1,000,000 individuals.
## Clinical description
Newborns are often encased in a collodion membrane (taut, shiny, translucent membrane appearing as an extra skin layer) with ectropion and eclabium. Once the membrane has been shed (after one-two weeks), scales covering the whole body become apparent. In classic LI, scales are large, dark and plate-like. Milder forms with lighter and thinner scales are possible. Contrarily to congenital ichthyosiform erythroderma (CIE), there is no significant erythroderma. Nevertheless, LI and CIE are the two extremities of a same spectrum with many patients exhibiting intermediate phenotypes. Furthermore, patient's phenotypes may change over time or under treatment. Skin is usually itchy or painful (cracks), mobility can be reduced due to skin stiffness and the sensitivity may be reduced by skin thickness. Other associated features include: persistent ectropion and associated eye complications (keratitis, corneal scarring), nail dystrophy, scarring alopecia, palmo-plantar keratoderma, failure to thrive, short stature, hypohidrosis with heat intolerance, and hearing defects (due to the accumulation of scales in the external ear).
## Etiology
LI is a genetically heterogeneous disease. It is due to mutations in genes TGM1, ABCA12, ALOX12B, and NIPAL4. Most mutations are found in the TGM1 gene encoding transglutaminase 1, involved in the formation of the epidermal cornified cell envelope. ABCA12 encodes an ATP-binding cassette (ABC) transporter, involved in lipid transport, ALOX12B codes for arachidonate 12(R)-lipoxygenase involved in lipid metabolism, and NIPAL4 likely encodes a membrane receptor. There is no clear genotype-phenotype correlation.
## Diagnostic methods
The diagnosis is based on the clinical appearance of the skin. Histological aspect of the skin is not specific. Molecular testing is possible but is not available in general practice. Immunohistochemistry using antibodies directed against TGase 1 or TGase 1 enzyme activity measurement is available in some centers.
## Differential diagnosis
Differential diagnoses include syndromic forms of ichthyosis, recessive X-linked ichthyosis and autosomal dominant ichthyosis vulgaris in mild forms, and CIE in case of erythroderma (see these terms). The disease is transmitted as an autosomal recessive trait.
## Antenatal diagnosis
Prenatal diagnosis is based on DNA analysis of amniocentesis and chorion villus sampling materials. Ultrasonography can detect the collodion membrane.
## Genetic counseling
Genetic counseling should be offered to the affected families informing them of the 25% risk of recurrence.
## Management and treatment
Management is based on daily applications of emollients or keratolytics. Oral retinoids are useful in severe forms (usually more than 35 mg/d in adults, 0.7 mg/kg/d in children).
## Prognosis
Prognosis is variable. During the neonatal period, there is a risk of sepsis and hydro-electrolytic troubles. The disease often remains stable over the life, with periods of exacerbation. The life expectancy is normal. The disease has a strong impact on the quality of life due to the altered physical appearance, the troublesome symptoms, and the constraints due to disease and the 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-aminobutyric 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
|
Lamellar ichthyosis
|
c3536797
| 26,582 |
orphanet
|
https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=313
| 2021-01-23T18:24:42 |
{"gard": ["10803"], "mesh": ["D017490"], "omim": ["242300", "601277", "604777", "606545", "612281", "613943", "617571"], "icd-10": ["Q80.2"], "synonyms": ["Classic lamellar ichthyosis", "Congenital lamellar ichthyosis", "LI"]}
|
Pili pseudoannulati
Other namesPseudo pili annulati[1]:640
SpecialtyDermatology
Pili pseudoannulati is an anomaly of human hair that mimics pili annulati; however, the two differ in that the light bands of pili annulati are caused by internal effects, whereas the bright segments of pili pseudoannulati are caused by reflection and refraction of light by flattened, twisted surfaces of hair.[2]:767
## References[edit]
1. ^ Freedberg, et al. (2003). Fitzpatrick's Dermatology in General Medicine. (6th ed.). McGraw-Hill. ISBN 0-07-138076-0.
2. ^ James, William; Berger, Timothy; Elston, Dirk (2005). Andrews' Diseases of the Skin: Clinical Dermatology. (10th ed.). Saunders. ISBN 0-7216-2921-0.
This condition of the skin appendages 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-aminobutyric 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
|
Pili pseudoannulati
|
c3150463
| 26,583 |
wikipedia
|
https://en.wikipedia.org/wiki/Pili_pseudoannulati
| 2021-01-18T18:50:15 |
{"umls": ["C3150463"], "wikidata": ["Q7193989"]}
|
A rare eye tumor disease representing the most common intraocular malignancy in children. It is a life threatening neoplasia but is potentially curable and it can be hereditary or non hereditary, unilateral or bilateral.
## Epidemiology
Retonoblastoma (RB) has an incidence of approximately 1/15-20,000 in Europe.
## Clinical description
RB manifests most often in young children (90% of cases <3 years old). Early clinical signs are leukocoria and strabismus. RB is most often painless and children rarely complain of visual impairment despite its rapid progression towards loss of vision in the affected eye. Other rare signs include hypopyon, vitreous hemorrhage, non rhegmatogenous retinal detachment, neovascular glaucoma and orbital cellulitis. In later stages, rarely seen in high income countries (HIC), intracranial dissemination and hematagenous metastasis, mainly to bones and bone marrow, are observed and are life-threatening. Most retinoblastomas (60%) are unilateral. Hereditary RB refers to those that arise due to a genetic predisposition (irrespective of family history); most of these patients have a bilateral disease and they are at increased risk to develop secondary tumors, mainly sarcoma but also pineoblastoma/supra-sellar tumor (both named ''trilateral retinoblastoma''), glial tumor, melanoma and carcinoma.
## Etiology
RB is caused by inactivating mutations of both alleles of RB1 (13q14) with a high (90%) penetrance (RB risk) in most mutations. Some mutations have a low penetrance (asymptomatic carriers or unilateral RB). Some rare unilateral retinoblastoma cases may arise without RB1 gene mutation but with somatic NMYC amplification. Monosomy 13q14 also causes RB.
## Diagnostic methods
Diagnosis is mainly clinical: Indirect ophthalmoscopy supported by fundal photography. Orbital ultrasound delineates intraocular tumor and usually shows calcification. MRI imaging is used to evaluate intra/extraocular and intracranial extension. Tumor staging (i.e. bone marrow examination, lumbar puncture and/or radionuclide bone scan) should be performed only in patients at risk of extra-ocular metastases.
## Differential diagnosis
Differential diagnoses, particularly in unilateral cases, include anterior chamber or lens abnormalities especially PHPV (persistence of hyperplastic vitreous), toxocariasis, X-linked retinoschisis, uveitis, medulloepithelioma, von Hippel disease, Norrie disease, retinopathy of prematurity and Coats disease (the most difficult differential diagnosis).
## Antenatal diagnosis
Prenatal and preimplantation genetic diagnoses are available in specialized centers in most HIC.
## Genetic counseling
Patients with hereditary RB inherit RB1 mutation from a parent and thus the predisposition to RB is transmitted in an autosomal dominant manner. However, more than 75% of predisposed patients do not inherit the mutated RB1 from an affected parent, but might have had a de novo mutation in a parental gamete or post-zygotically. Genetic testing needs to be proposed to all patients and their families, even when retinoblastoma is unilateral.
## Management and treatment
Treatment requires a multidisciplinary highly specialized approach. In HIC, conservative treatments for at least one eye are possible in most bilateral cases and increasingly used in unilateral cases. Laser treatment alone or combined with systemic chemotherapy, cryotherapy and brachytherapy are very efficient tools as well as the more recently developped local chemotherapy using intra-arterial and/or intravitreous delivery. Enucleation is still frequently used in large unilateral RB as well as in bilateral with large unilateral tumor. External beam radiotherapy is now avoided (risk of late effects, including second cancers in irradiated field).
## Prognosis
Vital prognosis is excellent in HIC. Visual prognosis is dictated by tumor location and size at diagnosis (macular involvement has a poor visual prognosis). Eye preservation is possible with early diagnosis. After conservative treatment, visual prognosis depends on macular involvement. If not treated promptly, RB may rapidly metastasize and be fatal, which is still frequent in low income countries.
*[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-aminobutyric 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
|
Retinoblastoma
|
c0035335
| 26,584 |
orphanet
|
https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=790
| 2021-01-23T17:13:20 |
{"gard": ["7563"], "mesh": ["D012175"], "omim": ["180200"], "umls": ["C0035335"], "icd-10": ["C69.2"]}
|
Lipoatrophy
Differential diagnosisdue to treatment for MS
Lipoatrophy is the term describing the localized loss of fat tissue. This may occur as a result of subcutaneous injections of insulin in the treatment of diabetes, from the use of human growth hormone or from subcutaneous injections of copaxone used for the treatment of multiple sclerosis. In the latter case, an injection may produce a small dent at the injection site.[1] Lipoatrophy occurs in HIV-associated lipodystrophy, one cause of which is an adverse drug reaction that is associated with some antiretroviral medications.[2]
A more general term for an abnormal or degenerative condition of the entire body's adipose tissue is lipodystrophy.
## References[edit]
1. ^ Radermecker RP, Piérard GE, Scheen AJ (2007). "Lipodystrophy reactions to insulin: effects of continuous insulin infusion and new insulin analogs". American Journal of Clinical Dermatology. 8 (1): 21–8. doi:10.2165/00128071-200708010-00003. PMID 17298103.
2. ^ Barbaro G (2007). "Visceral fat as target of highly active antiretroviral therapy-associated metabolic syndrome". Curr. Pharm. Des. 13 (21): 2208–13. doi:10.2174/138161207781039661. PMID 17627554.
## External links[edit]
Classification
D
* DiseasesDB: 30066
* SNOMED CT: 248315005
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-aminobutyric 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
|
Lipoatrophy
|
c1280433
| 26,585 |
wikipedia
|
https://en.wikipedia.org/wiki/Lipoatrophy
| 2021-01-18T19:06:32 |
{"icd-9": ["272.6"], "icd-10": ["E88.1"], "wikidata": ["Q3500973"]}
|
Rothmund-Thomson syndrome type 1 is a subform of Rothmund-Thomson syndrome (RTS; see this term) presenting with a characteristic facial rash (poikiloderma) and frequently associated with short stature, sparse scalp hair, sparse or absent eyelashes and/or eyebrows, and rapidly progressive bilateral juvenile cataracts. In contrast to RTS2 (see this term), patients with RTS1 do not appear to have an increased risk of developing cancer.
## Epidemiology
Around 300 cases of RTS have been reported in the literature so far, with RTS1 accounting for around one-third of cases.
## Etiology
RTS is transmitted in an autosomal recessive manner and although mutations in the RECQL4 gene have been found in patients with the RTS2 subform (see this term), the etiology of RTS1 remains 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-aminobutyric 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
|
Rothmund-Thomson syndrome type 1
|
c0032339
| 26,586 |
orphanet
|
https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=221008
| 2021-01-23T17:07:45 |
{"mesh": ["D011038"], "omim": ["268400", "618625"], "icd-10": ["Q82.8"], "synonyms": ["Poikiloderma of Rothmund-Thomson type 1", "RTS1"]}
|
Azygos lobe on chest x-ray. Arrowheads show the delineation of the lobe. Arrow points to the azygos vein.
In human anatomy, an azygos lobe is a normal anatomical variation of the upper lobe of the right lung.[1] It is seen in 1% of the population. Embryologically, it arises from an anomalous lateral course of the azygos vein,[2] in a pleural septum within the apical segment of the right upper lobe or in other words an azygos lobe is formed when the right posterior cardinal vein, one of the precursors of the azygos vein, fails to migrate over the apex of the lung and penetrates it instead, carrying along two pleural layers that invaginates into the upper portion of the right upper lobe. As it has no bronchi, veins and arteries of its own or corresponding alteration in the segmental architecture of the lung, so it is not a true (misnomer), or even accessory, pulmonary lobe, but rather an anatomically separated part of the upper lobe.[citation needed]
## Contents
* 1 Clinical significance
* 2 Additional images
* 3 References
* 4 Further reading
## Clinical significance[edit]
An azygos lobe is usually an incidental finding on chest x-ray or CT scan, and is not associated with any morbidity.[3][4] However, it can cause technical problems in thoracoscopic procedures.[5]
## Additional images[edit]
Azygos lobe in axial computertomography. Arrow on azygos vein.
HRCT thorax, axial section delineates a well-defined, convex-shaped fold (Blue arrow), the azygos fissure. A tear-drop shaped density noted at the bottom of the fold (Green arrow) is the azygos vein.
## References[edit]
1. ^ Amini B. "Azygos lobe | Radiology Reference Article | Radiopaedia.org". Radiopaedia.
2. ^ Demos TC, Posniak HV, Pierce KL, Olson MC, Muscato M (May 2004). "Venous anomalies of the thorax". AJR. American Journal of Roentgenology. 182 (5): 1139–50. doi:10.2214/ajr.182.5.1821139. PMID 15100109.
3. ^ Akhtar J, Lal A, Martin KB, Popkin J (2018-01-01). "Azygos lobe: A rare cause of right paratracheal opacity". Respiratory Medicine Case Reports. 23: 136–137. doi:10.1016/j.rmcr.2018.02.001. PMC 5925948. PMID 29719800.
4. ^ Caceres J, Mata JM, Andreu J (March 1998). "The azygos lobe: normal variants that may simulate disease". European Journal of Radiology. 27 (1): 15–20. doi:10.1016/s0720-048x(97)00146-0. PMID 9587765.
5. ^ Sieunarine K, May J, White GH, Harris JP (August 1997). "Anomalous azygos vein: A potential danger during endoscopic thoracic sympathectomy". Australian and New Zealand Journal of Surgery. 67 (8): 578–9. doi:10.1111/j.1445-2197.1997.tb02046.x.
## Further reading[edit]
* Sidhu R, Dhanadia A, Shah H, Chudasama N (May 2015). "Eluding normal variant". Lung India. 32 (3): 289–91. doi:10.4103/0970-2113.156258. PMC 4429398. PMID 25983422.[permanent dead link]
* Mata J, Cáceres J, Alegret X, Coscojuela P, De Marcos JA (May 1991). "Imaging of the azygos lobe: normal anatomy and variations" (PDF). AJR. American Journal of Roentgenology. 156 (5): 931–7. doi:10.2214/ajr.156.5.2017954. PMID 2017954.[permanent dead link]
Wikimedia Commons has media related to Human anatomy, azygos lobe.
*[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-aminobutyric 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
|
Azygos lobe
|
c0265794
| 26,587 |
wikipedia
|
https://en.wikipedia.org/wiki/Azygos_lobe
| 2021-01-18T18:43:32 |
{"umls": ["C0265794"], "icd-10": ["Q33.1"], "wikidata": ["Q601889"]}
|
Intentional or reckless infection of a person with the human immunodeficiency virus
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Criminal transmission of HIV is the intentional or reckless infection of a person with the human immunodeficiency virus (HIV). This is often conflated, in laws and in discussion, with criminal exposure to HIV, which does not require the transmission of the virus and often, as in the cases of spitting and biting, does not include a realistic means of transmission.[1] Some countries or jurisdictions, including some areas of the U.S., have enacted laws expressly to criminalize HIV transmission or exposure, charging those accused with criminal transmission of HIV. Other countries, the United Kingdom for example, charge the accused under existing laws with such crimes as murder, fraud (Canada), manslaughter, attempted murder, or assault.
Criminal transmission of HIV is now better known as HIV non-disclosure, which is the criminal punishment for not disclosing an HIV positive status. This can be intentionally or unknowingly not disclosing HIV status and then exposing or transmitting HIV to a person. HIV non-disclosure includes intentional transmission, accidental transmission, unknown transmission, and exposure to HIV with no transmission. People have been accused of and charged for HIV non-disclosure even if no harm was intended and if HIV was not actually transmitted.[2]
## Contents
* 1 Modes of transmission
* 1.1 Reducing chance of transmission
* 2 Legal situation
* 2.1 Australia
* 2.1.1 New South Wales
* 2.2 Canada
* 2.2.1 Current law and policy
* 2.2.2 History
* 2.3 Finland
* 2.4 Germany
* 2.5 Libya
* 2.6 New Zealand
* 2.7 Netherlands
* 2.8 Poland
* 2.9 Russia
* 2.10 United Kingdom
* 2.10.1 Scotland
* 2.11 United States
* 3 Criticism of criminal statutes
* 4 See also
* 5 References
* 6 Further reading
* 7 External links
## Modes of transmission[edit]
HIV is spread when one of these bodily fluids: blood, semen, pre-seminal fluid, breast milk, rectal fluids, or vaginal fluids of an HIV-positive person comes into contact with a mucous membrane or bloodstream of an HIV-negative person.[3] HIV transmission can occur by:
* Unprotected sexual intercourse
* Sharing needles or other equipment in injection drug use
* Giving birth to or breastfeeding a child
* Receiving a blood transfusion or organ donation – although this is unlikely because blood and organ donations are extensively tested for HIV
### Reducing chance of transmission[edit]
Having a low viral load decreases the chance of transmitting HIV. A person living with HIV who is taking effective antiretroviral therapy will have a viral load that becomes so low, it is undetectable (less than 50 copies of virus per milliliter).[4] Undetectable viral loads are untransmittable.[5] Proper use of external condoms or internal condoms also greatly reduces any chance of transmission.[4]
## Legal situation[edit]
In many English-speaking countries and in most of the states who have signed the European Convention of Human Rights,[6] knowingly infecting others with HIV can lead to criminal prosecution. One such case is that of Thomas Guerra, an American landscape architect, who became the first person in the state of California to be convicted for intentionally infecting another individual with HIV. In court, prosecutors presented 11,000 text messages and 36 audio clips to support their case against Guerra. Since then, Guerra has been accused of intentionally exposing dozens of other men to HIV.[7][8][9]
In a 2004 survey of the latter group, the Global Network of People Living with HIV/AIDS found that at least one prosecution had occurred in about half of these countries, and that in Finland, Sweden and Slovakia, about 0.5% to 1% of all people reported to be living with HIV/AIDS had been prosecuted for alleged intentional or "negligent" transmission of HIV.[6] In many developing countries such as Thailand where the HIV/AIDS pandemic has been much more serious, laws regarding criminalisation of intentional transmission have been either weak or non-existent.[10]
From a global perspective, the U.S. and Canada account for the vast majority of reported prosecutions.[11]
### Australia[edit]
In Australia the regulations concerned with the transmission of HIV are found in two sources, the Public Healths Acts and in the criminal law.[citation needed]
#### New South Wales[edit]
The New South Wales (NSW) Public Health Act from 2010 regulates under section 79 that a person with HIV must disclose their status to all sexual partners. Under section 79(3) it is a defence, if the court is satisfied, that the defendant took reasonable precautions to prevent the transmission.[12] In other Australian states, there is no specific legislative requirement to disclose.[citation needed]
Interventions may range from counseling through to restrictive orders, with detention as a last resort. If talking about the problems of practising safe sex does not help, the doctor may obtain a Public Health Order to manage the behaviour of the HIV positive person.[citation needed] Only a small number of sex workers and clients have received a Public Health Order or 'management' intervention for potentially breaking the law.[citation needed]
Under the criminal law, a person with HIV is criminally liable for prosecution if they have intentionally transmitted the virus to their partner without informing them of their status. In NSW the relevant offences are separated into those done intentionally (s. 33 of the Crimes Act 1900),[13] and those done recklessly (s. 35). The definition of grievous bodily harm (GBH)[14] now[when?] explicitly includes (in ss. 4(1)(c)) 'any grievous bodily disease'.[15][failed verification] This means that the infliction of grievous bodily harm refers to causing a person to contract a grievous bodily disease. Under section 33 a person who intends to inflict grievous bodily harm on another person can be imprisoned for up to 25 years while under section 35 a person who recklessly causes another person grievous bodily harm can be imprisoned for up to 10 years and 14 years if in company. This can include causing someone to be infected with HIV. A person is generally deemed as reckless when they are aware that there is a risk that another person may be caused as a result of their actions, but they proceed to act anyway.[citation needed]
### Canada[edit]
Though Canadian federal law does not contain any HIV-specific statutes, HIV transmission and exposure are otherwise prosecuted under general offense laws, such as aggravated assault or aggravated sexual assault.[16]
#### Current law and policy[edit]
Commonly referred to as "HIV non-disclosure", criminal transmission of HIV in Canada is defined as a "realistic possibility of transmission" of HIV during sexual intercourse.[16] The Supreme Court of Canada defined "no realistic possibility of transmission" as (1) using a condom and (2) having a low or undetectable viral load.[16] However, the threshold for a low viral load was not defined until 2017 when the Criminal Justice System's Response to Non-Disclosure of HIV made conclusions about the current laws on HIV non-disclosure including that people with low viral loads (under 200 copies of HIV per milliliter of blood) should not be convicted under the criminal law.[16][17]
In 2019, the House of Commons Standing Committee on Justice and Human Rights released a report on the criminalization of HIV non-disclosure in Canada with four recommendations for the House of Commons and the Canadian Government.[18] The committee recommended that a new law be created specifically for the transmission of HIV, instead of relying on pre-existing laws such as sexual assault. They recommended that this law be applicable only when HIV is actually transmitted and "HIV non-disclosure should never be prosecuted if (1) the infected individual has an undetectable viral load (less than 200 copies per millilitre of blood); (2) condoms are used; (3) the infected individual’s partner is on PrEP or (4) the type of sexual act (such as oral sex) is one where there is a negligible risk of transmission."[18] This allows for four different scenarios in which HIV positive people will not have to disclose their status because of the nature of the sexual encounter; current laws only allow for one specific scenario with multiple requirements.[16]
HIV researchers have criticized the recommendations for not going far enough to counteract the adverse effects that the current law imposes on women.[19] Although people living with HIV are generally aware of non-disclosure laws, many do not fully understand the law or understand when they do or do not have to disclose their status.[20]
#### History[edit]
The first notable case of HIV non-disclosure is R. v Cuerrier, where the defendant was charged with aggravated assault and sexual transmission of HIV under section 268 of the Criminal Code. The Supreme Court found that the trial judge had misdirected himself and ordered a new trial on two counts of aggravated assault but in May 1999, the British Columbian Attorney-General announced that a new trial would not take place. The Court's ruling caused difficulty because even though it only concerned non-disclosure of HIV-positive status in sexual situations, it unanimously rejected the English authority of R. v Clarence, with L’Heureux-Dubé stating that any fraud could vitiate consent to all types of assault because the autonomy and physical integrity of the person has been violated. Thus, because the Canadian legislature has declined to criminalize the transmission of HIV, the judiciary must address the issues as and when they arise.
R. v Mabior[21] is the Supreme Court of Canada's most recent decision outlining criminal liability for serostatus nondisclosure. After being diagnosed with HIV in 2004, Clato Mabior underwent aggressive antiretroviral therapy and was adhering to treatment at the time of pursuing sexual relations with multiple partners between 2004–2006. Despite intermittent condom use, HIV was never transmitted to his partners. Ultimately, the Court convicted Mabior with six counts of aggravated sexual assault.
Subsequent legal precedent[22] has established that failure to disclose HIV-positive status, combined with failure to utilize protective measures (condom use), is sufficiently fraudulent behaviour to constitute turning "consensual" sex into aggravated sexual assault, since the other party has been denied the information necessary to give properly informed consent. The Court's vague justification for serostatus disclosure under circumstances that lead to "significant risk of bodily harm" remained a particularly contentious issue in the aftermath of Cuerrier. Because Cuerrier did not expressly define "significant risk", lower courts inconsistently criminalized HIV-positive defendants based on varied interpretations of the clause. In large part, Mabior represents a response to Cuerrier and an attempt to sharpen the criteria. In Mabior, the Court found that "significant risk of bodily harm is negated if (i) the accused’s viral load at the time of sexual relations was low or undetectable, and (ii) condom protection was used."
On 1 December 2005, Jian Ghomeshi filed a report on this issue for the CBC. He asked whether there is a legal obligation to disclose HIV status. He held up the case of Johnson Aziga, who was diagnosed in 1996 but then allegedly had unprotected sex with at least 13 women. Aziga was charged with two counts of murder and 11 counts of aggravated sexual assault; the prosecution claims that he did not disclose his status. On 4 April 2009, Aziga was found guilty of the two counts of first degree murder as well as the lesser counts. The current precedent in Canada stands as any person who has HIV, fails to disclose the fact to their sexual partner, and does not take some sort of protective measure (such as condom use), is guilty of aggravated sexual assault as per Cuerrier and subsequent cases. Aziga was convicted of first degree murder since under Canadian law; any death as a result of aggravated sexual assault (two of the women died as a result of the HIV infection received from intercourse with Aziga) is automatically first degree murder as per section 231 of the Criminal Code.[23][24]
Several Canadian courts had ruled that people who are not informed that a sexual partner is HIV-positive cannot truly give consent to sex. As a result, the death of Aziga's partners was automatically considered to be murder instead of the lesser charge of manslaughter. However, in Mabior the Supreme Court rejected the view that consent will always be vitiated by non-disclosure of HIV-positive status, substituting the rule that there will be no consent only if in addition to the non-disclosure there was a realistic possibility of transmission of HIV.[citation needed]
### Finland[edit]
The first case of criminal HIV infection in Finland was that of Steven Thomas,[25] a US citizen from New York, who was convicted in 1997 in Helsinki for knowingly infecting Finnish women with HIV during 1993–1996. In January 1997, Finnish police published Thomas' picture in newspapers and stated that Thomas may have infected tens or even hundreds of Finnish women with HIV. Seventeen women said they had been in unprotected sexual contact with Thomas.[25]
Thomas was given a 14-year prison sentence at the Helsinki court on 10 July 1997 for 17 counts of attempted manslaughter.[26] Thomas was found to have infected five of the 17 women with HIV, and was ordered to pay damages of $63,000–$73,000 to each infected victim.[27] The sentence was widely criticised within the legal system, because under Finnish law the maximum sentence for multiple counts of attempted manslaughter is 12 years. Lauri Lehtimaja, the Ombudsman of the Parliament, gave a warning to the court judge about his misuse of the law.[28] The Helsinki Court of Appeal lowered the sentence in December 1997 to be 11 years and 6 months of imprisonment. The documents of the case were classified for 40 years.[citation needed]
In 2002 Steven Thomas was quietly released and deported from Finland to an unknown location.[29]
A Finnish man convicted of spreading HIV knowingly through unprotected sex with many women was Aki Matti Hakkarainen. He was first convicted in 2005 and sentenced to one year and nine months in prison for attempted aggravated assault.[30] In August 2007, Hakkarainen was arrested by Rovaniemi police after a report from a young woman saying she had contracted HIV from Hakkarainen during unprotected sex. On 5 October 2007, police published the name and photo of Hakkarainen in newspapers in an effort to reach all women who had had sexual intercourse with him.[31]
In court, Hakkarainen admitted to having unprotected sex with the women but denied trying to infect them with the virus. On 22 April 2008, Rovaniemi court concluded that Hakkarainen knowingly infected five women with HIV, and in August 2008 he was found guilty of five counts of aggravated assault and 14 counts of attempted aggravated assault. He was sentenced to ten years in prison. He was also ordered to pay 45,000–55,000 euros compensation to the five women that contracted the virus.[32]
### Germany[edit]
In the Federal Republic of Germany on 16 August 2010, Nadja Benaissa of the German pop music group No Angels admitted to sex with several men while knowing her HIV-positive status, and infecting one of those several,[clarification needed] who subsequently brought the case against her. She faced prison, but was instead given probation (2 years) and community service. Women groups were outraged at the possibility of a woman being charged for negligently spreading HIV. She denied any intent to infect, apologising profusely and saying "When I was arrested I realised that the way that I had dealt with the illness had been wrong... I made a big mistake... No way did I want my partner to be[come] infected." She stated that she concealed the infection to avoid hurting the success of her band. Benaissa has claimed she had been told by doctors that the risk of passing on the virus was "practically zero".[33]
### Libya[edit]
The HIV trial in Libya, also called 'the Bulgarian nurses affair', concerns the trials, appeals and eventual release of six foreign medical workers charged with conspiring to deliberately infect over 400 children with HIV in 1998, causing an epidemic at El-Fatih Children's Hospital in Benghazi, Libya.[34]
The defendants, arrested in 1999, were one Palestinian medical intern and five Bulgarian nurses (often termed "medics").[35] All of the medics were heavily tortured for months to extract confessions. The torture process is described in details in the book Notes from Hell,[36] co-written by Nikolay Yordanov and one of the nurses, Valya Chervianashka. As a result, three of the medics signed confessions. They were first sentenced to death, had their case remanded by Libya's highest court, and were sentenced to death again, which was upheld by Libya's highest court in early July 2007.
A Libyan government panel later commuted their sentences to life in prison.[37] The six were released following a deal reached with European Union representatives on humanitarian issues.[38] The EU did not condone the guilty verdict in Libya against the six.[citation needed]
On 24 July 2007, the five medics and the doctor were extradited to Bulgaria, where their sentences were commuted by the Bulgarian President Georgi Parvanov and they were freed.[citation needed] Libya has since complained about the releases, and the issue remains[when?] ongoing.[citation needed] Furthermore, a controversy has arisen concerning the terms of release, which allegedly include an arms trade as well as a civilian nuclear cooperation agreement signed by French President Nicolas Sarkozy in July 2007.[citation needed]
### New Zealand[edit]
New Zealand's first case for criminal HIV transmission occurred in 1993, when Peter Mwai, a Kenyan visiting New Zealand on a tourist visa, was sentenced to seven years in prison for infecting at least two women with HIV through unprotected sexual intercourse.[39] Mwai came to New Zealand police attention after a woman reported she had contracted HIV after sleeping with him. Multiple women came forward saying they had unprotected sex with Mwai who had not told them he had HIV. At least two of the women tested positive for HIV. Peter Mwai was charged under existing laws, for causing 'grievous body harm' and 'reckless endangerment'.[40]
On 6 October 2005 a New Zealand District Court ruled that HIV-positive people need not tell sexual partners about their status so long as safe sex is practiced. In the case being ruled on, the man had used a condom during intercourse but not during oral sex. His partner had not been infected. The same man was convicted of criminal nuisance earlier for having unprotected sex with another partner without revealing his HIV status.[41]
In May 2009, a 40-year-old bisexual man from Auckland was thought to have infected at least five younger gay men between 2008 and 2009.[42] One of the infected men had laid a formal complaint to the New Zealand police, sex venues shut their doors to what was called a 'HIV predator'.[43] and police arrested the 40-year-old man in on 28 May 2009.[44] On 16 June 2009 the court heard that two more people had come forward with complaints bringing the total to six.[citation needed] The eight charges included that he "with reckless disregard for the safety of others caused – or attempted to cause – grievous bodily harm to five males aged 17, 20, 24, 26, and 31, plus a female aged 19." He faced charges of "willfully and without justification or excuse causing in a male aged 20 and a female aged 19 a disease, namely HIV."[citation needed] The trial set for 2010 did not proceed as Glenn Mills, accused of knowingly exposing fourteen young people to HIV, was found dead in his Mt Eden remand prison cell on 30 November 2009 after having made two unsuccessful applications to be released on bail in prior weeks.[45]
### Netherlands[edit]
Three HIV-positive men, Peter Mulder, Hans Jurgens and Wim Dekker, were jailed in 2008 on charges of attempting to inflict grievous bodily harm after drugging and raping 14 men, some of whom they injected with their own HIV-infected blood. Twelve of the victims were HIV-positive or suffering from AIDS at the time of the trial.[46]
### Poland[edit]
In Poland under Art. 161 of the Criminal Code, persons who knowingly risk infecting others with HIV are liable to be jailed up to 3 years.[47]
### Russia[edit]
Infecting another individual with HIV is a criminal offense unless that individual knew about HIV infection beforehand and consented.[48]
### United Kingdom[edit]
Further information: Consent (criminal law)
Transmission generally may fall under sections 18, 20, 23, 24 or 47 of the Offences against the Person Act 1861 (respectively grievous bodily harm (GBH) with intent or to resist arrest, GBH generally, poisoning (two sections), and actual bodily harm).
As of 19 June 2006, there had been seven convictions for the sexual transmission of HIV in England and Wales under s.20 of the 1861 Act which, inter alia, criminalizes the reckless inflicting of grievous bodily harm.[citation needed] Of these, five were men accused of infecting female partners during sex, one was a man who pleaded guilty to infecting a male partner, and one (in Wales) was a woman.[citation needed] In 2005, the 20-year-old Welsh woman was convicted of infecting her boyfriend with HIV during sex, knowing she had the infection.[49] In 2006, a 43-year-old woman pleaded guilty to recklessly inflicting grievous bodily harm on her 31-year-old lover.[49]
Only two cases pleaded 'not guilty', and both have gone to appeal. In R. v Dica[50] the Court of Appeal held that a person was reckless if, knowing that they were HIV-positive, they transmitted HIV to a person who had not been told of the infection, and convicted him of a total sentence of 8 years' imprisonment. It was not necessary to prove that the transmission had involved an assault for the "inflicting" of the disease. They acknowledged that there could be a higher standard of disclosure expected of someone in a relationship, compared with the "known risks" involved in casual sex. Matthew Weait has critically discussed the case.[51]
In R. v Konzani[52] the same court held that a person accused of recklessly transmitting HIV could only raise the defense of consent, in cases where that consent was a "willing" or "conscious" consent. In other words, the court distinguished between "willingly running the risk of transmission" and "willingly consenting to the risk of transmission". This suggests that consent will only operate as a defense—in all but the most exceptional of cases—where there has already been prior disclosure of known HIV-positive status.[53]
As of June 2006[update], two women have been convicted for passing on an HIV infection in the UK. The first, from Cardiff, was jailed for 2 years;[54] the second, Sarah Jane Porter, was convicted of grievous bodily harm through the reckless transmission of HIV, and was sentenced to 32 months in prison in June 2006.[55]
The National AIDS Trust has published a table of cases of people in England and Wales charged with reckless sexual transmission of HIV.[56]
In November 2017, a man called Daryll Rowe was convicted of grievous bodily harm after intentionally infecting five men with the virus and attempting to infect five more.[57][58][59][60] The Rowe case has been reported as being the first case in the United Kingdom where the defendant was found guilty for intentionally rather than recklessly transmitting the virus.[61] In 2017, another man, Antonio Reyes-Minana, was convicted of grievous bodily harm after withholding his HIV status from two male partners.[62]
An important issue that arises where proof of transmission is required is establishing the source of the complainant's HIV infection.[citation needed] Although it cannot prove the route and timing of transmission, phylogenetic analysis has been used in many trials to demonstrate how closely related HIV strains in samples taken from the defendant and complainant are. The issues and problems surrounding phylogenetic analysis in criminal investigation are discussed in a 2007 report by aidsmap.[63]
Presentations from the Economic and Social Research Council funded 2011 seminar series "HIV/AIDS and Law: Theory, Practice and Policy" at Keele University deal with the question of criminalization.[64]
#### Scotland[edit]
In February 2001 Stephen Kelly, an ex-prisoner and former IV drug user, was convicted of the Scots common law offence of "recklessly injuring" his former partner by infecting her with HIV.[65] In HMA v Deveraux (2010), the HIV positive defendant pleaded guilty to reckless injury on four counts, one of which led to the victim contracting HIV.[66]
### United States[edit]
Main article: Criminal transmission of HIV in the United States
In July 2010 the White House announced a major change in its HIV/AIDS policy, a change informed by public health law research carried out by Scott Burris, professor of law at Temple University and the director of its Public Health Law Research program.[67] The Obama administration's National HIV/AIDS Strategy for the United States concluded that "the continued existence and enforcement of these types of laws [that criminalize HIV infection] run counter to scientific evidence about routes of HIV transmission and may undermine the public health goals of promoting HIV screening and treatment."[68]
In the fall of 2010, the Center for HIV Law and Policy launched the 'Positive Justice Project', a campaign to combat HIV-related stigma and discrimination against people with HIV by the U.S. criminal justice system.[69] It released a manual of HIV-specific laws and prosecutions in the 50 states, District of Columbia, U.S. territories, federal government, and military in 2010.[70]
On 23 September 2011, Rep. Barbara Lee (D-CA) introduced H.R. 3053, The Repeal Existing Policies that Encourage and Allow Legal HIV Discrimination Act or the REPEAL HIV Discrimination Act.[71] The REPEAL HIV Discrimination Act calls for review of all federal and state laws, policies, and regulations regarding the criminal prosecution of individuals for HIV-related offenses.[72] The bill died in the Subcommittee on Health,[71] and also in 2013/2014 when introduced as H.R. 1843 and referred to the Subcommittee on Military Personnel.[73]
Courts have looked into the statistical probability of HIV transmission to overturn or reduce criminal sentences resulting from prosecutions. For example, on 23 February 2015, the United States Court of Appeals for the Armed Forces reversed the aggravated assault conviction of Technical Sergeant David Gutierrez upon determining, that the risk of HIV transmission through sexual intercourse was not "likely to produce death or grievous bodily harm" under the applicable statute.[74]
As of 2017, the Center for Disease Control and Prevention (CDC) states that those who have undetectable levels of HIV in their blood cannot transmit the virus.[75][76][77]
## Criticism of criminal statutes[edit]
Research has been done on the effects of the criminalization of HIV non-disclosure. It has been demonstrated that these types of laws increase HIV stigma and negatively affect public health.[78][79] HIV non-disclosure laws and criminalization of HIV transmission may make people less likely to access HIV testing[80] and less likely to disclosure their status[78] or discuss sexual health with a healthcare provider.[80] Although women only make up 10% of Canadian non-disclosure prosecutions, there is an overrepresentation of prosecuted sex workers, Indigenous women, and abuse survivors.[80] There is also a higher proportion of women and indigenous people involved in cases based on low levels of blameworthiness (i.e. difficult life circumstance, spontaneous sexual acts, compliance with authorities, condom use, and evidence that the accused was abused by the complainant).[81]
South Africa's openly HIV-positive Supreme Court Justice Edwin Cameron argued against criminalisation at the XVII International AIDS Conference in Mexico City.
## See also[edit]
* STD notifications in dating services
* Electronic health record (EHR)
* Electronic medical record (EMR)
* Criminal transmission of HIV by various people
* Intentional contagion of infection
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76. ^ "Those with undetectable HIV at "effectively no risk" of transmitting virus, CDC says". NBC News.
77. ^ "HIV drugs now so effective people on them cannot transmit virus". The Independent. 9 October 2017.
78. ^ a b Lazzarini, Zita; Galletly, Carol L.; Mykhalovskiy, Eric; Harsono, Dini; O’Keefe, Elaine; Singer, Merrill; Levine, Robert J. (13 June 2013). "Criminalization of HIV Transmission and Exposure: Research and Policy Agenda". American Journal of Public Health. 103 (8): 1350–1353. doi:10.2105/AJPH.2013.301267. ISSN 0090-0036. PMC 3966663. PMID 23763428.
79. ^ Greene, Saara; Odhiambo, Apondi J.; Muchenje, Marvelous; Symington, Alison; Cotnam, Jasmine; Dunn, Kristin; Frank, Margaret; Glum, Shelly; Gormley, Rebecca; Ion, Allyson; Nicholson, Valerie (3 October 2019). "How women living with HIV react and respond to learning about Canadian law that criminalises HIV non-disclosure: 'how do you prove that you told?'". Culture, Health & Sexuality. 21 (10): 1087–1102. doi:10.1080/13691058.2018.1538489. ISSN 1369-1058. PMID 30624133. S2CID 58610785.
80. ^ a b c Patterson, Sophie E.; Milloy, M.-J.; Ogilvie, Gina; Greene, Saara; Nicholson, Valerie; Vonn, Micheal; Hogg, Robert; Kaida, Angela (2015). "The impact of criminalization of HIV non-disclosure on the healthcare engagement of women living with HIV in Canada: a comprehensive review of the evidence". Journal of the International AIDS Society. 18 (1): 20572. doi:10.7448/IAS.18.1.20572. ISSN 1758-2652. PMC 4689876. PMID 26701080.
81. ^ Department of Justice Canada (1 December 2017). "Criminal Justice System's Response to Non-Disclosure of HIV" (PDF). Government of Canada. Retrieved 20 November 2019.
## Further reading[edit]
* Chalmers, James 'The criminalisation of HIV Transmission' 28 Journal of Medical Ethics (2002) 160; Criminal Law Review (2004) 944;
* Donegan E, Lee H, Operskalski EA, Shaw GM, Kleinman SH, Busch MP, Stevens CE, Schiff ER, Nowicki MJ, Hollingsworth CG (June 1994). "Transfusion transmission of retroviruses: human T-lymphotropic virus types I and II compared with human immunodeficiency virus type 1". Transfusion. 34 (6): 478–83. doi:10.1046/j.1537-2995.1994.34694295061.x. PMID 8023388.CS1 maint: multiple names: authors list (link)
* LegalEase Collective, 'Episode 38 - The Status of Non-Disclosure of HIV Status: A Legal Analysis of Supreme Court of Canada Decisions R. v. Mabior and R. v. D.C.' LegalEase on CKUT 90.3 FM (October 2012); [8]
* OSI 10 Reasons to Oppose Criminalization of HIV Exposure or Transmission;
* Spencer, J.R. 'Liability for Reckless Infection: Part 1' New Law Journal (12 March 2004) 384;
* Spencer, J.R. 'Liability for Reckless infection: Part 2' New Law Journal (26 March 2004) 448;
* Spencer, J.R. 'Reckless Infection in the Course of Appeal' New Law Journal (21 May 2004) 762;
* Warburton, Damian (2004) 'A Critical Review of English Law in Respect of Criminalising Blameworthy Behaviour by HIV+ Individuals' Journal of Criminal Law (2004), 55;
* Weait, Matthew (2007) Intimacy and Responsibility: the Criminalisation of HIV Transmission (Abingdon: Routledge-Cavendish);
* Weait, Matthew 'Dica: Knowledge, Consent and the Transmission of HIV' New Law Journal (28 May 2004) 826;
* Weait, Matthew 'Criminal Law and the Sexual Transmission of HIV: R v Dica' 68(1) Modern Law Review (2005) 121;
* Weait, Matthew 'Taking the blame: criminal law, social responsibility and the sexual transmission of HIV' 23(4) Journal of Social Welfare and Family Law (2001) 441–457;
* Weait, Matthew & Azad, Yusef 'The criminalization of HIV transmission in England and Wales: Questions of Law and Policy' HIV/AIDS Policy and Law Review (August 2005)
* Weinberg PD, Hounshell J, Sherman LA, Godwin J, Ali S, Tomori C, Bennett CL (February 2002). "Legal, financial, and public health consequences of HIV contamination of blood and blood products in the 1980s and 1990s". Ann Intern Med. 136 (4): 312–9. doi:10.7326/0003-4819-136-4-200202190-00011. PMID 11848729. S2CID 26058343.
## External links[edit]
* Criminal Transmission of HIV - list of notable cases
* HIV and the criminal law (International resource from NAM)
* Criminal HIV Transmission Research Project Tops 100 Online Profiles
* Information concerning a number of European countries
* Information concerning England and Wales
* More information concerning England and Wales
* Canadian HIV/AIDS Legal Network
* HIV & AIDS Legal Clinic (Ontario)Canada
* The Center for HIV Law & Policy \- Positive Justice Project
* NAM Aids Map \- Transmission of HIV as a criminal offence
* WHO technical consultation \- A report by the World Health Organization on Criminalizing HIV Transmission
* Keele University Research Institute for Law, Politics and Justice \- The legal, political and social problems associated with HIV were discussed at a seminar series at Keele University in 2005/6.
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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-aminobutyric 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
|
Criminal transmission of HIV
|
None
| 26,588 |
wikipedia
|
https://en.wikipedia.org/wiki/Criminal_transmission_of_HIV
| 2021-01-18T19:09:36 |
{"wikidata": ["Q2655747"]}
|
The DNA of human papillomavirus (HPV) types 16 and 18 has been found closely associated with human genital cancers, supporting an etiologic role for these viruses. Both HPV16 and HPV18 DNA sequences have also been detected in cell lines derived from cervical cancer. For example, the most famous such line, HeLa, contains HPV18 DNA amplified about 10- to 50-fold together with the flanking cellular sequences. Most, if not all, HPV-positive mRNAs from HeLa are virus-cell fusion transcripts. The host cell sequences are spliced to the 5-prime HPV18 exons. In a primary cervical carcinoma, Durst et al. (1987) found that HPV-16 flanking sequences were localized to chromosome regions 20pter-q13 and 3p25-qter, regions that also contain the protooncogenes SRC (190090) and RAF1 (164760), respectively. In the SiHa cervical carcinoma-derived cell line, Durst et al. (1987) demonstrated that the HPV16 integration site was into chromosome region 13q14-q32. The HPV18 integration site in SW756 cervical carcinoma cells was in chromosome 12 but was not closely linked to the KRAS2 gene (190070). In 2 cervical carcinoma cell lines, HeLa and C4-I, HPV18 DNA was integrated in chromosome 8, 5-prime to the MYC gene (190080). All this suggested that at least in some genital tumors, cis-activation of cellular oncogenes by HPV may be involved in malignant transformation of cervical cells. Popescu et al. (1987) also found that the HPV18 DNA in the cervical carcinoma cell line SW756 was integrated at a single site, namely, 12q13. Multiple copies were present at this site, which was determined by in situ hybridization. The single integration site corresponds to a heritable fragile site which, Popescu et al. (1987) suggested, may have facilitated the integration of the viral DNA.
*[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-aminobutyric 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
|
HUMAN PAPILLOMAVIRUS TYPE 18 INTEGRATION SITE 2
|
c3887948
| 26,589 |
omim
|
https://www.omim.org/entry/167960
| 2019-09-22T16:36:35 |
{"omim": ["167960"], "synonyms": ["Alternative titles", "PAPILLOMAVIRUS TYPE 18 INTEGRATION SITE 2"]}
|
## Summary
### Clinical characteristics.
Autosomal recessive congenital ichthyosis (ARCI) encompasses several forms of nonsyndromic ichthyosis. Although most neonates with ARCI are collodion babies, the clinical presentation and severity of ARCI may vary significantly, ranging from harlequin ichthyosis, the most severe and often fatal form, to lamellar ichthyosis (LI) and (nonbullous) congenital ichthyosiform erythroderma (CIE). These phenotypes are now recognized to fall on a continuum; however, the phenotypic descriptions are clinically useful for clarification of prognosis and management.
* Infants with harlequin ichthyosis are usually born prematurely and are encased in thick, hard, armor-like plates of cornified skin that severely restrict movement. Life-threatening complications in the immediate postnatal period include respiratory distress, feeding problems, and systemic infection.
* Collodion babies are born with a taut, shiny, translucent or opaque membrane that encases the entire body and lasts for days to weeks.
* LI and CIE are seemingly distinct phenotypes: classic, severe LI with dark brown, plate-like scale with no erythroderma and CIE with finer whiter scale and underlying generalized redness of the skin. Affected individuals with severe involvement can have ectropion, eclabium, scarring alopecia involving the scalp and eyebrows, and palmar and plantar keratoderma.
Besides these major forms of nonsyndromic ichthyosis, a few rare subtypes have been recognized, such as bathing suit ichthyosis, self-improving collodion ichthyosis, or ichthyosis-prematurity syndrome.
### Diagnosis/testing.
The diagnosis of nonsyndromic ARCI is established by skin findings at birth and in infancy. Skin biopsy is not necessary to establish the diagnosis of ARCI. The twelve genes known to be associated with ARCI are ABCA12, ALOX12B, ALOXE3, CASP14, CERS3, CYP4F22, LIPN, NIPAL4, PNPLA1, SDR9C7, SLC27A4, and TGM1; at least 15% of affected families do not have pathogenic variants in any of the known genes. A multigene panel that includes these genes is the diagnostic test of choice. If such testing is not available, single-gene testing can be considered starting with ABCA12 in individuals with harlequin ichthyosis, TGM1 in individuals with ARCI without harlequin presentation at birth and SLC27A4 in those presenting with ichthyosis-prematurity syndrome.
### Management.
Treatment of manifestations: For neonates, a moist environment in an isolette, hygienic handling to prevent infection, and treatment of infections; petrolatum-based creams/ointments to keep the skin soft, supple, and hydrated; for older children, humidification with long baths, lubrication, and keratolytic agents such as alpha-hydroxy acid or urea preparations to promote peeling and thinning of the stratum corneum; for those with ectropion, lubrication of the cornea; for those with severe skin involvement, cautious use of oral retinoids.
Prevention of secondary complications: Prevention of infection, dehydration and overheating, corneal drying; high caloric diet; when necessary, release of collodion membrane on digits to maintain circulation and on the thorax for adequate respiration.
Surveillance: Regular physical examination for evidence of infection, management of skin involvement, as well as for the increased (but still low) risk for skin malignancy (squamous cell carcinoma, basal cell carcinoma, atypical melanocytic nevi, or malignant melanoma).
Agents/circumstances to avoid: Skin irritants; overheating.
### Genetic counseling.
ARCI is inherited in an autosomal recessive manner. 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 pregnancies at increased risk are possible if both ARCI-related pathogenic variants have been identified in a family.
## Diagnosis
### Suggestive Findings
Autosomal recessive congenital ichthyosis (ARCI) should be suspected in newborns who have either harlequin ichthyosis, a collodion membrane, or thick, hyperkeratotic skin with desquamation.
* Harlequin ichthyosis is characterized by a thick, taut body armor-like covering that severely restricts movement and results in deformities of the face, head, and extremities.
* Collodion babies have a taut, shiny, translucent or opaque membrane that encases the entire body and lasts for days to weeks. Most infants with ARCI are born as collodion babies.
* Babies with ichthyosis-prematurity syndrome are born with erythematous, thick, hyperkeratotic skin with desquamation resembling vernix caseosa.
### Establishing the Diagnosis
The diagnosis of ARCI is established in a proband (typically an infant):
* With scaly skin with or without a history of harlequin ichthyosis, collodion membrane, or thick, hyperkeratotic skin AND the later development of ONE of the following:
* Classic lamellar ichthyosis (LI). Brown, plate-like scale over the entire body, associated with ectropion (eversion of eyelids), eclabium (eversion of lips), scarring alopecia, and palmar and plantar hyperkeratosis
* (Nonbullous) congenital ichthyosiform erythroderma (CIE). Erythroderma (red skin) with fine, white scale and often with palmoplantar hyperkeratosis
* Intermediate forms with some features of both LI and CIE, or nonLI/nonCIE form with mild hyperkatosis;
AND/OR
* By identification of biallelic pathogenic variants in one of the genes listed in Table 1.
Molecular testing approaches can include use of a multigene panel, serial single-gene testing and more comprehensive genomic testing:
* A multigene panel that includes the genes in Table 1a and Table 1b and other genes of interest (see Differential Diagnosis) is the diagnostic test of choice, as it offers the possibility to evaluate concurrently for syndromic forms of congenital ichthyosis, which may not be distinguishable based on clinical grounds prior to onset of specific symptoms. Note: (1) The genes included and the sensitivity of multigene panels varies 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.
* Serial single-gene testing can be considered if multigene panel testing is not available; the order of testing is determined by the genes in which pathogenic variants most commonly occur for a given phenotype. Sequence analysis of the gene of interest is performed first, followed by gene-targeted deletion/duplication analysis if only one or no pathogenic variant is found.
* In individuals with harlequin ichthyosis, analysis of ABCA12 should be performed first.
* In individuals with ARCI and without harlequin presentation at birth, analysis of TGM1 should be performed first.
* In individuals with ichthyosis-prematurity syndrome, molecular genetic testing should start with SLC27A4.
* For individuals with ARCI in whom analysis of ABCA12, TGM1, and SLC27A4 has not identified pathogenic variants, use of a multigene panel containing ALOX12B, ALOXE3, CASP14, CERS3, CYP4F22, LIPN, NIPAL4, PNPLA1, and SDR9C7 is recommended.
* More comprehensive genomic testing (when available) including exome sequencing and genome sequencing may be considered especially in individuals with ARCI who also have other organ manifestations (syndromic presentation). 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 1a.
Molecular Genetics of Autosomal Recessive Congenital Ichthyosis: Most Common Genetic Causes
View in own window
Gene 1Proportion of ARCI Attributed to Pathogenic Variants in This GeneProportion of Pathogenic Variants 2 Detectable by Test Method
Sequence
analysis 3Gene-targeted deletion/duplication analysis 4
ABCA125%-7% (>93% of harlequin ichthyosis) 5>95% 6At least 4% 7
ALOX12B7%-13% 8>95% 8Unknown 9
ALOXE34%-8% 8>95% 8Unknown 9, 10
CYP4F223%-8% 1124/25 12Unknown 9, 12
NIPAL45%-16% 1334/34 13Unknown 9
PNPLA1Up to 3% 1430/30 14Unknown 9
SLC27A44% 1530/30 16Unknown 9
TGM132%-68% (~70%-90% of LI) 17>95% 17Unknown 9, 17
Unknown 18NA
Pathogenic variants of any one of the genes listed in this table account for >1% of ARCI; genes are listed in alphabetic order.
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\.
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.
5\.
Parmentier et al [1996], Parmentier et al [1999], Lefèvre et al [2003], Akiyama et al [2005], Kelsell et al [2005], Thomas et al [2006], Fischer [2009], Akiyama [2010], Israeli et al [2013], Pigg et al [2016]
6\.
Akiyama [2010]; Author, personal experience
7\.
Kelsell et al [2005], Thomas et al [2006], Akiyama [2010], Scott et al [2013], Shibata et al [2015]
8\.
Eckl et al [2009], Fischer [2009], Pigg et al [2016]
9\.
No data on detection rate of gene-targeted deletion/duplication analysis are available.
10\.
A single homozygous intragenic deletion involving exons 1-6 in ALOXE3 has been reported in a consanguineous Pakistani family with ARCI [Ullah et al 2016].
11\.
Lefèvre et al [2006], Fischer [2009], Pigg et al [2016]
12\.
Lefèvre et al [2006], Israeli et al [2013], Scott et al [2013], Bučková et al [2016], Diociaiuti et al [2016], Noguera-Morel et al [2016], Pigg et al [2016]
13\.
Lefèvre et al [2004], Fischer [2009], Israeli et al [2013], Scott et al [2013], Bučková et al [2016], Pigg et al [2016]
14\.
Grall et al [2012], Fachal et al [2014], Pigg et al [2016], Vahidnezhad et al [2017], Zimmer et al [2017]
15\.
Klar et al [2004], Klar et al [2009], Sobol et al [2011], Pigg et al [2016]
16\.
Klar et al [2009], Sobol et al [2011], Pigg et al [2016]
17\.
Eckl et al [2009], Fischer [2009], Rodríguez-Pazos et al [2011], Israeli et al [2013], Pigg et al [2016]
18\.
Further heterogeneity is suggested by the fact that at least 15% of affected families do not have pathogenic variants in any of the 12 known genes [Pigg et al 2016] and their phenotype does not map to the other known genes [Krebsová et al 2001]. Pathogenic variants have not been identified in any of the following situations: (1) linkage to two other loci on the same chromosome (chromosome 19) has been suggested [Fischer et al 2000, Virolainen et al 2000]; (2) homozygosity mapping in two consanguineous families identified a region on chromosome 12 (ARCI7) [Mizrachi-Koren et al 2005]; and (3) linkage to a locus on 15q26.3 ‒ possibly identical to the location of CERS3 ‒ has been suggested in an aboriginal family from Taiwan [Wu & Lee 2011].
### Table 1b.
Molecular Genetics of Autosomal Recessive Congenital Ichthyosis: Less Common Genetic Causes
View in own window
Gene 1, 2Comment
CASP14A 2-bp deletion was reported in 3 patients from 2 (unrelated) Algerian families [Kirchmeier et al 2017].
CERS3Three consanguineous Tunisian families with congenital ichthyosis and eye, heart, and skeletal anomalies due to a contiguous gene deletion encompassing ADAMTS17, CERS3, and FLJ42289 were reported. Weill-Marchesani syndrome-like extracutaneous features were attributed to deletion of ADAMTS17, while deletion of CERS3 was associated with congenital ichthyosis [Radner et al 2013]. This causal relationship was confirmed when a homozygous splice donor site and missense variant in CERS3 were identified in two additional families with ARCI without extracutaneous findings [Eckl et al 2013, Radner et al 2013].
LIPNOnly 1 study reports a homozygous 2-bp deletion in LIPN in a large consanguineous family with childhood-onset ARCI in 7 affected family members [Israeli et al 2011, Israeli et al 2013]. Pigg et al [2016] did not identify pathogenic variants in LIPN among 132 persons with nonsyndromic congenital ichthyosis from Scandinavia.
SDR9C7Three consanguineous Lebanese families were reported with a homozygous missense variant in this gene in all affected probands [Shigehara et al 2016]. A Japanese individual with ARCI was found to be homozygous for a deletion involving SDR9C7 [Takeichi et al 2017].
Pathogenic variants of any one of the genes listed in this table are reported in only a few families (i.e., <1% of ARCI); genes are listed in alphabetic order.
1\.
See Table A. Genes and Databases for chromosome locus and protein.
2\.
Click here (pdf) for further information on some of the genes included in the table.
## Clinical Characteristics
### Clinical Description
Although most neonates with autosomal recessive congenital ichthyosis (ARCI) are collodion babies, the clinical presentation and severity of ARCI may vary significantly, ranging from harlequin ichthyosis, the most severe and often fatal form, to lamellar ichthyosis (LI) and (nonbullous) congenital ichthyosiform erythroderma (CIE) in older individuals. While these phenotypes are now recognized to fall on a continuum, the phenotypic descriptions are clinically useful for clarifying prognosis and management for affected individuals. Ichthyosis-prematurity syndrome (IPS) also manifests at birth with extensive hyperkeratosis, erythema, and edema of the skin with serious secondary complications, but improves quickly and regresses to a mild ichthyosis phenotype, which later in childhood can be difficult to distinguish from other forms of ARCI.
Children with ARCI are often born prematurely. They can experience high levels of transepidermal water loss with resultant hypernatremia. They are at increased risk for infection/sepsis during the neonatal period.
Harlequin ichthyosis. Babies with harlequin ichthyosis are born prematurely covered in thick, hard, armor-like plates of cornified skin separated by deep fissures. The taut skin results in deformation of facial features and microcephaly. Babies are at risk for life-threatening complications in the postnatal period including respiratory distress, dehydration, electrolyte imbalance, temperature instability, feeding problems, and bacterial infections, often with fatal consequences. A survival rate of 56% has been reported, and is expected to further increase with improved neonatal intensive care and treatment options, such as early topical and/or systemic retinoids [Rajpopat et al 2011].
Surviving children eventually shed this armor and develop generalized scaling and intense redness of the skin (erythroderma, severe CIE-like phenotype). Harlequin ichthyosis remains a serious and chronic skin disorder, and severe ectropion, eclabium, alopecia, palmoplantar keratoderma with painful fissures and digital contractures, and growth delay are common.
Lamellar ichthyosis (LI). Neonates with LI typically present with a collodion membrane. The membrane subsequently dries and peels away to be replaced by a whitish, later brown, plate-like scale over the entire body. Ectropion, eclabium, scarring alopecia involving the scalp and eyebrows, and palmar and plantar hyperkeratosis can be seen in severely affected infants. The nails may be curved and beaked and the ears are often crumpled and adherent to the scalp. Erythroderma may be present, but is usually mild and never the predominant feature.
Congenital ichthyosiform erythroderma (CIE). As many as 90% of infants with CIE present with collodion membrane as neonates. They subsequently develop erythroderma (generalized redness of the skin) and fine, white semi-adherent scales. They also have palmoplantar keratoderma, often with painful fissures and digital contractures [Fischer et al 2000]. Ectropion, eclabium, scalp involvement, and loss of eyebrows can occur in severely affected newborns.
Intermediate phenotypes. Many affected individuals lie either somewhere along the LI-CIE spectrum and may be classified as having mild LI or mild CIE, or have non-LI/non-CIE features of fine/mild scaling, referred to as congenital ichthyosis with fine/mild scaling (CIFS).
Other rare subtypes
* "Bathing suit ichthyosis," a rare presentation of ARCI predominantly observed in individuals from South Africa and caused by pathogenic variants in TGM1, shows brown or dark-gray scaling on the trunk (bathing suit area), while the extremities and central face are almost completely spared. It is hypothesized that pathogenic variants exert an effect on temperature-dependent activity of the transglutaminase 1 enzyme, with marked decrease in enzyme function at higher temperatures [Oji et al 2006].
* Collodion babies who have nearly complete resolution of their ichthyosis in infancy with only xerosis, residual mild or focal scaling, hyperlinear palms, red cheeks, or anhidrosis are classified as "self-healing collodion baby" or more correctly "self-improving collodion ichthyosis" [Raghunath et al 2003, Vahlquist et al 2010]. This minor subtype of ARCI has been observed in about 10% of individuals with ARCI [Ahmed & O'Toole 2014].
* Babies with ichthyosis-prematurity syndrome (IPS) are born prematurely between 29-35 weeks' gestation. There is typically a pregnancy history of polyhydramnios and fetal ultrasound may reveal echogenic sediment in the amniotic fluid. The skin at birth is erythrodermic, swollen, and massively thickened with a vernix-like appearance. Most severely affected is the scalp, often with verruciform hyperkeratosis. Neonates suffer from severe, sometimes fatal asphyxia due to reduced lung function from intrauterine amniotic fluid aspiration. They have poor Apgar scores and require intensive care and prolonged hospitalization. Nevertheless, the prognosis of IPS is generally excellent. After a few days the skin sheds and improves significantly, revealing an underlying erythema, which eventually resolves. Later in life individuals have dry, rough skin with cobblestone-like hyperkeratosis, keratosis pilaris, and pruritus [Khnykin et al 2012].
* Individuals with ARCI born with erythroderma but mostly without collodion membrane who later develop generalized LI and hyperlinear palms and soles have been reported as having LI type 3 [Lefèvre et al 2006].
Skin biopsy
* Histologic findings in ARCI are mostly nonspecific. ARCI is characterized by hyperkeratosis (thickened stratum corneum, the uppermost layer of the epidermis) with or without parakeratosis with an underlying acanthosis.
* Harlequin ichthyosis is characterized by extreme hyperkeratosis, follicular plugging, and the absence of lamellar bodies and lipid bi-layers in a skin biopsy by electron microscopy.
### Genotype-Phenotype Correlations
ABCA12. Pathogenic variants in ABCA12 have been found in virtually all children with harlequin ichthyosis of diverse ethnic backgrounds [Akiyama et al 2005, Kelsell et al 2005, Thomas et al 2006, Akiyama 2010, Pigg et al 2016].
* Most are nonsense changes and small insertions/deletions resulting in premature termination of protein translation; splice site defects and missense changes are less common.
* Partial-gene deletions spanning from one to 35 exons have been observed.
* Based on a comprehensive study analyzing molecular genetic findings in 45 individuals with harlequin ichthyosis [Akiyama 2010]:
* All individuals homozygous for a detrimental loss-of-function allele had the most severe and fatal course of harlequin ichthyosis.
* Those who were compound heterozygous for two different disease alleles (loss-of-function or missense) were less severely affected.
* The mildest outcome (with features of CIE or LI) was observed in individuals with harlequin ichthyosis who had at least one pathogenic missense variant.
Most surviving individuals with pathogenic variants in ABCA12 have a severe CIE phenotype [Sakai et al 2009], while a few individuals showed a severe LI phenotype [Parmentier et al 1996, Parmentier et al 1999, Lefèvre et al 2003].
Note: While pathogenic variants in ABCA12 account for most cases of harlequin ichthyosis, ABCA12 pathogenic variants have also been reported in ten families with LI (most from northern Africa) [Lefèvre et al 2003] and in eight families with CIE [Akiyama 2010].
ALOX12B, ALOXE3. Individuals typically have the CIE or intermediate phenotypes [Jobard et al 2002] although self-improving collodion ichthyosis has been reported in others [Raghunath et al 2003, Harting et al 2008, Mazereeuw-Hautier et al 2009, Hackett et al 2010, Vahlquist et al 2010].
CERS3. Consistent skin findings in individuals with biallelic pathogenic variants in CERS3 include collodion membrane presentation at birth, erythema and fine scales on the face and trunk, larger, brown scales on the lower limbs, and hyperlinear and hyperkeratotic palms and soles. A distinct feature of CERS3-related ichthyosis is keratotic lichenification with a prematurely aged appearance of the skin [Eckl et al 2013, Radner et al 2013].
CYP4F22. Pathogenic variants have been reported in consanguineous families with LI associated with hyperlinear palms and soles but without collodion presentation at birth [Lefèvre et al 2006] and also in individuals with self-improving collodion ichthyosis [Noguera-Morel et al 2016].
LIPN. In contrast to all other forms of ARCI, those with pathogenic variants in LIPN appear to manifest not in infancy but later during childhood with generalized fine, white scaling and minimal erythema [Israeli et al 2011].
NIPAL4. Individuals with pathogenic variants present with CIE or intermediate phenotypes [Lefèvre et al 2004, Dahlqvist et al 2007]. There is a higher prevalence of NIPAL4 pathogenic variants in Scandinavia (Sweden, Denmark, and Norway), where they account for approximately 89% of TGM1-negative cases with erythrodermic ARCI without collodion presentation [Dahlqvist et al 2007, Pigg et al 2016].
PNPLA1. Individuals with pathogenic variants in PNPLA1 typically present at birth with collodion membrane and then transition to a CIE phenotype with scalp involvement and hyperlinear palms and soles [Grall et al 2012, Fachal et al 2014]. However, generalized, dark brown scaling with hypohidrosis or mild disease with generalized fine exfoliation and hyperkeratotic plaques over knees have also been observed, while ectropion, eclabium, and alopecia are lacking.
SLC27A4. Individuals with biallelic pathogenic variants present with the ichthyosis-prematurity syndrome (IPS) phenotype.
TGM1. The vast majority of individuals with the classic LI phenotype have TGM1 pathogenic variants; many persons with much milder non-erythrodermic phenotypes also have TGM1 pathogenic variants.
In addition, TGM1 pathogenic variants have been reported in a few individuals with "bathing suit ichthyosis" [Hackett et al 2010] as well as in individuals with self-improving collodion ichthyosis [Raghunath et al 2003, Mazereeuw-Hautier et al 2009, Hackett et al 2010, Vahlquist et al 2010].
Locus heterogeneity of unknown cause
* Finnish individuals with a form of ARCI linked to a locus on chromosome 19 reportedly have a very mild, non-erythrodermic, non-LI phenotype [Fischer et al 2000].
* Individuals from two families with a form of ARCI linked to a locus on chromosome 12 (ARCI-7 locus) had no collodion membrane and typical CIE features [Mizrachi-Koren et al 2005].
### Nomenclature
Historically, the term "lamellar ichthyosis" was used to describe any individual with ARCI, and even rare cases of autosomal dominant ichthyosis, regardless of whether erythroderma was present. At the international Ichthyosis Consensus Conference in 2009, the term "autosomal recessive congenital ichthyosis" (ARCI) was designated the umbrella term for three major types of congenital ichthyosis [Oji et al 2010]:
* "Harlequin ichthyosis"
* "Lamellar ichthyosis" for collodion baby resolving to non-erythrodermic skin with large, plate-like brown or whitish scale
* "(Nonbullous) congenital ichthyosiform erythroderma" (CIE) to distinguish the erythrodermic form of ARCI with fine white scale from the lamellar, non-erythrodermic form
Note: "Bullous congenital ichthyosiform erythroderma" refers to an autosomal dominant ichthyosis, also called "epidermolytic ichthyosis" (EI) or "epidermolytic hyperkeratosis" (EHK), which does not present as collodion baby, and is a result of pathogenic variants in genes encoding epidermal keratins.
### Prevalence
According to the Foundation for Ichthyosis and Related Skin Types, ARCI affects approximately 1:200,000 individuals in the US.
The disease affects all ethnic and racial groups and is seen in higher frequency in populations in which consanguineous marriage is common. The frequency of LI is estimated at 1:91,000 in Norway [Pigg et al 1998] and 1:122,000 in Galicia (northern Spain) [Rodríguez-Pazos et al 2011] ‒ in both cases as a result of a founder effect. A population-based study in Spain reported a higher prevalence of ARCI – 1:62,000 – with approximately two thirds of individuals having LI and one third having CIE [Hernández-Martín et al 2012].
The harlequin ichthyosis phenotype is very rare.
IPS is most prevalent in Scandinavia, with an estimated local heterozygote carrier frequency of one in 50 [Klar et al 2004, Klar et al 2009, Sobol et al 2011, Pigg et al 2016], but isolated cases or families with IPS have been reported worldwide.
## Differential Diagnosis
Birth. The differential diagnosis of autosomal recessive congenital ichthyosis (ARCI) includes the following:
* Sjögren-Larsson syndrome (OMIM 270200), an autosomal recessive disorder, is characterized by spastic paraplegia, intellectual disability, and retinopathy in addition to ichthyosis. Pathogenic variants in ALDH3A2 and abnormal levels of fatty aldehyde dehydrogenase (FALDH) activity in cultured fibroblasts identify children who have Sjögren-Larsson syndrome.
* Netherton syndrome (OMIM 256500) is an autosomal recessive congenital ichthyosis featuring chronic inflammation of the skin, hair shaft anomalies, epidermal hyperplasia with an impaired epidermal barrier function, failure to thrive, and atopic manifestations. Life-threatening complications during infancy include temperature and electrolyte imbalance, recurrent infections, and sepsis. The disease is caused by pathogenic variants in SPINK5, encoding serine protease inhibitor Kazal-type 5 [Raghunath et al 2004].
* Gaucher disease, an autosomal recessive inborn error in glucosylceramidase, has a wide spectrum of clinical presentation. The perinatal lethal form may present as collodion skin abnormality and developmental and neurologic problems (pyramidal signs). Gaucher disease is caused by pathogenic variants in GBA.
* Keratitis-ichthyosis-deafness (KID) syndrome (OMIM 148210), an autosomal dominant disorder, is characterized by vascularizing keratitis, congenital ichthyosis, palmoplantar keratoderma, and sensorineural hearing loss. Pathogenic variants in GJB2 or (rarely) GJB6 underlie the disorder [Richard et al 2002, Jan et al 2004].
* Trichothiodystrophy (OMIM 601675) ("sulfur-deficient hair") is characterized by one or more of the following: photosensitivity, ichthyosis, brittle hair, infertility, developmental delay, and/or short stature. This disorder can be diagnosed by identifying reduced sulfur content of hair or by demonstrating UV sensitivityin cultured fibroblasts, although there also exists a non-photosensitive form of trichothiodystrophy. Most affected individuals have pathogenic variants in ERCC2; less commonly this disorder is associated with pathogenic variants in ERCC3, GTF2H5, MPLKIP, RNF113A, or GTF2E2.
* Chanarin-Dorfman syndrome (OMIM 275630) (neutral lipid storage disease) is an autosomal recessive neuroichthyotic disorder in the differential diagnosis of the CIE phenotype that is caused by pathogenic variants in abhydrolase-5 (ABHD5) on chromosome 3. Screening involves examination of a peripheral blood smear for lipid storage vacuoles in neutrophils, eosinophils, and monocytes. Skin biopsy shows lipid droplets in the basal layer of the dermis.
* Conradi-Hünermann-Happle syndrome (X-linked chondrodysplasia punctata with early gestational male lethality) is caused by a defect in cholesterol biosynthesis. It is characterized in affected females by cicatricial scarring, alopecia, patchy or diffuse ichthyosis that may resolve into atrophoderma and hyperpigmentation, punctuate calcification in epiphyseal cartilage, asymmetric rhizomelic limb shortening, cataracts, and deafness. This disorder is caused by pathogenic variants in EBP on Xp11.23.
* Hypohidrotic ectodermal dysplasia is characterized by sparseness of scalp and body hair, reduced ability to sweat, and congenital absence of teeth. Inheritance can be autosomal recessive, autosomal dominant, or X-linked. Pathogenic variants in three genes have been identified as causing hypohidrotic ectodermal dysplasia: EDA (X-linked form), EDAR, and EDARADD (autosomal forms). In addition, pathogenic variants in WNT10A are associated with onycho-odontodermal dysplasia (OMIM 257980) and Schöpf-Schultz-Passarge syndrome (OMIM 257980), disorders in which hypohidrotic ectodermal dysplasia is a finding [Adaimy et al 2007, Bohring et al 2009, Cluzeau et al 2011].
* Epidermolytic and superficial epidermolytic ichthyosis, formerly known as epidermolytic hyperkeratosis (OMIM 113800) and ichthyosis bullosa of Siemens (OMIM 146800), respectively, are autosomal dominant disorders that can be distinguished from ARCI by family history and histologic examination of the skin. Individuals with autosomal dominant epidermolytic ichthyosis virtually never present with a collodion membrane at birth. Nonbullous forms of palmoplantar keratodermas can present at birth or soon after, although the findings are mostly limited to the palms and soles with only a mild generalized ichthyosis in some.
* Autosomal recessive ichthyosis with hypotrichosis (ARIH) syndrome (OMIM 602400) is characterized by vernix-like scaling at birth, transitioning to generalized white, fine scale with scalp involvement and possibly sparing of flexures. Another feature is generalized, diffuse, non-scarring hypotrichosis. The scalp hair is light colored, sparse, and curly. Eye involvement includes photophobia and/or inflammation of the eyelids (blepharitis). This disorder was reported in two consanguineous Israeli-Arab and Turkish families as a result of pathogenic loss-of-function variants in ST14, which encodes a serine protease matriptase [Avrahami et al 2008]. Pathogenic variants in the same gene have also been reported in two consanguineous families with congenital ichthyosis, follicular atrophoderma, hypotrichosis, and hypohidrosis (IFAH). This suggests a broad clinical phenotype in individuals with pathogenic variants in ST14 which overlaps with the ectodermal dysplasias [Basel-Vanagaite et al 2007].
Infancy. Other ichthyoses that may not be evident at birth but appear soon after include the following:
* Ichthyosis vulgaris (OMIM 146700) usually presents within the first year of life; it is characterized by mild ichthyosis/xerosis, keratosis pilaris, and hyperlinear palms and soles, and is often associated with atopy. Individuals with typical features are heterozygous for a loss-of-function pathogenic variant in FLG, the gene encoding filaggrin, while homozygous or compound-heterozygous individuals show a more severe phenotype reminiscent of classic LI [Smith et al 2006].
* X-linked ichthyosis (steroid sulfatase deficiency; OMIM 308100) is characterized in infancy by white, adherent scale, which darkens over time (especially affecting the flexures), asymptomatic corneal opacities, and occasionally cryptorchidism. High plasma cholesterol sulfate concentration identifies affected males. X-linked ichthyosis is caused by recurrent genomic deletions including STS on Xp22.3 in more than 90% of affected males. Larger deletions may result in a more complex phenotype that additionally includes intellectual disabilities, autism spectrum disorder, loss of smell (Kallmann syndrome), or other features [Cañueto et al 2010]. Pathogenic variants detected by sequence analysis have been rarely reported as well.
## Management
### Evaluations Following Initial Diagnosis
To establish the extent of disease and needs in an individual diagnosed with autosomal recessive congenital ichthyosis (ARCI), the following are recommended:
* Examination for evidence of infection
* Evaluation for problems relating to prematurity
* Evaluation by a dermatologist familiar with congenital ichthyosis
* Assessment of transepidermal water loss and hydration status
* Assessment of corneal hydration in babies with ectropion
* Assessment of feeding and nutrition status
* Consultation with a clinical geneticist and/or genetic counselor
### Treatment of Manifestations
For neonates, providing a moist environment in an isolette, preventing infection by hygienic handling, and treating infection are paramount.
Petrolatum-based creams and ointments are used to keep the skin soft, supple, and hydrated.
As the child becomes older, humidification with long baths, lubrication, and keratolytic agents such as alpha-hydroxy acid or urea preparations may be used to promote peeling and thinning of the stratum corneum. Topical salicylic acid preparations should be used very cautiously because of absorption.
For individuals with ectropion, lubrication of the cornea with artificial tears or prescription ophthalmic ointments, especially at night, is helpful in preventing dessication of the cornea.
Topical or oral retinoid therapy is recommended for those with severe skin involvement; however, side effects include bone toxicity and ligamentous calcifications from long-term use. Oral retinoid therapy should be used with great caution in women of child-bearing age because of concerns about teratogenicity. A detailed review of choice of retinoid, dosage, treatment duration, toxicity, monitoring, and disease-specific considerations for ARCI are provided by Digiovanna et al [2013].
### Prevention of Secondary Complications
The following measures are appropriate:
* Prevention of infection in the newborn (pivotal to outcome)
* Prevention of dehydration
* Maintenance of body temperature; prevention of overheating
* Prevention of corneal drying
* High caloric diet
* Release of collodion membrane on digits, when necessary, to prevent reduced circulation leading to loss of digits
* Prevention of chest constriction resulting from tautness of membrane to assure adequate respiration
### Surveillance
Regular physical examination for evidence of infection and control of skin involvement is appropriate; frequency depends on the severity. In adults, regular surveillance for skin cancer is appropriate (cases with atypical melanocytic nevi, malignant melanoma, squamous cell carcinoma, and basal cell carcinoma have been reported) [Fernandes et al 2010, Natsuga et al 2011].
### Agents/Circumstances to Avoid
Skin irritants and overheating should be avoided.
### Evaluation of Relatives at Risk
See Genetic Counseling for issues related to testing of at-risk relatives for genetic counseling purposes.
### Pregnancy Management
Affected mothers are at no specific disease-related risks during pregnancy. Anecdotal improvement of the ichthyosis with return to baseline after delivery has been reported.
### Therapies Under Investigation
Search ClinicalTrials.gov in the US and www.ClinicalTrialsRegister.eu 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-aminobutyric 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
|
Autosomal Recessive Congenital Ichthyosis
|
None
| 26,590 |
gene_reviews
|
https://www.ncbi.nlm.nih.gov/books/NBK1420/
| 2021-01-18T21:41:18 |
{"synonyms": []}
|
Pseudodementia
Other namesDepression-related cognitive dysfunction, depressive cognitive disorder, pseudosenility,[1] reversible dementia[2]
SpecialtyPsychiatry
Pseudodementia (otherwise known as depression-related cognitive dysfunction) is a condition where mental cognition can be temporarily decreased. The term pseudodementia is applied to the range of functional psychiatric conditions such as depression, schizophrenia and hysteria that may mimic organic dementia, but are essentially reversible on treatment. Pseudodementia typically involves three cognitive components: memory issues, deficits in executive functioning, and deficits in speech and language. Specific cognitive symptoms might include trouble recalling words or remembering things in general, decreased attentional control and concentration, difficulty completing tasks or making decisions, decreased speed and fluency of speech, and impaired processing speed. People with pseudodementia are typically very distressed about the cognitive impairment they experience. With in this condition, there are two specific treatments that have been found to be effective for the treatment of depression, and these treatments may also be beneficial in the treatment of pseudodementia. Cognitive behavioral therapy (CBT) involves exploring and changing thought patterns and behaviors in order to improve one's mood. Interpersonal therapy focuses on the exploration of an individual's relationships and identifying any ways in which they may be contributing to feelings of depression.
## Contents
* 1 Presentation
* 2 Causes
* 3 Diagnosis
* 3.1 Differential diagnosis
* 3.2 Pseudodementia vs. dementia
* 4 Treatments
* 5 History
* 6 References
* 7 Further reading
## Presentation[edit]
The history of disturbance in pseudodementia is often short and abrupt onset, while dementia is more often insidious. Clinically, people with pseudodementia differ from those with true dementia when their memory is tested. They will often answer that they don't know the answer to a question, and their attention and concentration are often intact. They may appear upset or distressed, and those with true dementia will often give wrong answers, have poor attention and concentration, and appear indifferent or unconcerned. The symptoms of depression oftentimes mimic dementia even though it may be co-occurring.[3]
## Causes[edit]
Pseudodementia refers to "behavioral changes that resemble those of the progressive degenerative dementias, but which are attributable to so-called functional causes".[4] The main cause is the depression.
## Diagnosis[edit]
### Differential diagnosis[edit]
The implementation and application of existing collaborative care models, such as DICE, can aid in avoiding misdiagnosis. Comorbidities (such as vascular, infectious, traumatic, autoimmune, idiopathic, or even becoming malnourished) have the potential to mimic symptoms of dementia.[5] For instance, studies have also shown a relationship between depression and its cognitive effects on everyday functioning and distortions of memory.[6]
Investigations such as PET and SPECT imaging of the brain show reduced blood flow in areas of the brain in people with Alzheimer's disease (AD) compared with a more normal blood flow in those with pseudodementia, and the MRI shows medial temporal lobe atrophia in people with AD.[7]
### Pseudodementia vs. dementia[edit]
Pseudodementia symptoms can appear similar to dementia. Due to the similar side effects to dementia, this can result in a misdiagnosis of depression, or the adverse effects of medications being taken.[8] This form of dementia is not the original form and does not result from the same cognitive changes. Once the depression is properly treated or the medication therapy is changed, the cognitive impairment can be effectively reversed. Generally, dementia involves a steady and irreversible cognitive decline but in some cases there may be different outcomes.[8] In addition, diminished mental capacity and social withdrawal are commonly identified as symptoms in the elderly but oftentimes is due to symptoms of depression.[9] As a result, elderly patients are often misdiagnosed especially when healthcare professionals do not make an accurate assessment.
Older people with predominantly cognitive symptoms such as loss of memory, and vagueness, as well as prominent slowing of movement and reduced or slowed speech, were sometimes misdiagnosed as having dementia when further investigation showed they were suffering from a major depressive episode.[10] This was an important distinction as the former was untreatable and progressive and the latter treatable with antidepressant therapy, electroconvulsive therapy, or both.[11] In contrast to major depression, dementia is a progressive neurodegenerative syndrome involving a pervasive impairment of higher cortical functions resulting from widespread brain pathology.[12]
A significant overlap in cognitive and neuropsychological dysfunction in Dementia and pseudodementia patients increases the difficulty in diagnosis. Differences in the severity of impairment and quality of patients' responses can be observed, and a test of antisaccadic movements may be used to differentiate the two, as pseudodementia patients have poorer performance on this test.[2] Individuals with pseudodementia present considerable cognitive deficits, including disorders in learning, memory and psychomotor performance. Substantial evidences from brain imaging such as CT scanning and positron emission tomography (PET) have also revealed abnormalities in brain structure and function.[2]
A comparison between dementia and pseudodementia is shown below.[2]
Variable Pseudodementia Dementia
Onset More precise, usually in terms of days or weeks Subtle
Course Rapid, uneven Slow, worse at night
Past history Depression or mania frequently Uncertain relation
Family history Depression or mania Positive family history for dementia in approximately 50% DAT
Mood Depressed; little or no response to sad or funny situations; behavior and affect inconsistent with degree of cognitive deficit Shallow or labile; normal or exaggerated response to sad or funny situations; consistent with degree of cognitive impairment
Cooperation Poor; little effort to perform well; responds often with "I don't know"; apathetic, emphasizes failure Good; frustrated by inability to do well; response to queries approximate con fabricated or perseverated; emphasizes trivial accomplishment
Memory Highlight memory loss; greater impairment of personality features (e.g. confidence, drive, interests, and attention) Denies or minimizes impairments; greater impairment in cognitive features (recent memory and orientation to time and date)
Mini-Mental State Exam (MMSE).[13] Changeable on repeated tests Stable on repeated tests
Symptoms Increased psychologic symptoms:sadness, anxiety, somatic symptoms Increased neurologic symptoms: dysphasia, dyspraxia, agnosia, incontinence
Computed Tomography (CT) and Electroencephalogram (EEG) Normal for age Abnormal
## Treatments[edit]
If effective medical treatment for depression is given, this can aid in the distinction between pseudodementia and dementia. Antidepressants have been found to assist in the elimination of cognitive dysfunction associated with depression, whereas cognitive dysfunction associated with true dementia continues along a steady gradient. In cases where antidepressant therapy is not well tolerated, patients can consider electroconvulsive therapy as a possible alternative.[8] However, studies have revealed that patients who displayed cognitive dysfunction related to depression eventually developed dementia later on in their lives.
The development of treatments for dementia has not been as fast as those for depression. Thus far, cholinesterase inhibitors are the most popular drug used to slow the progression of the Alzheimer's disease (most frequent dementia) and improves cognitive function for a period of time.[14]
## History[edit]
The term was first coined in 1961 by psychiatrist Leslie Kiloh, who noticed patients with cognitive symptoms consistent with dementia who improved with treatment. Reversible causes of true dementia must be excluded.[12] His term was mainly descriptive.[15] The clinical phenomenon, however, was well-known since the late 19th century as melancholic dementia.[16]
Doubts about the classification and features of the syndrome,[17] and the misleading nature of the name, led to proposals that the term be dropped.[18] However, proponents argue that although it is not a defined singular concept with a precise set of symptoms, it is a practical and useful term which has held up well in clinical practice, and also highlights those who may have a treatable condition.[19]
## References[edit]
1. ^ Libow LS (March 1973). "Pseudo-senility: acute and reversible organic brain syndromes". J Am Geriatr Soc. 21 (3): 112–20. doi:10.1111/j.1532-5415.1973.tb00855.x. PMID 4702407. S2CID 23256265.
2. ^ a b c d Nixon, S.J. (1996) Secondary dementias: reversible dementias and pseudomentia in R.L. Adams, O.A. Parsons, J.L. Culbertson & S.J. Nixon (Eds.) Neuropsychology for Clinical Practice: etiology, assessment, and treatment of common neurological disorder. (pp. 107–130). Washington, DC: American Psychological Association
3. ^ Wells, CE (May 1979). "Pseudodementia". American Journal of Psychiatry. 136 (7): 895–900. doi:10.1176/ajp.136.7.895. PMID 453349.
4. ^ Jones, R.D., Tranel, D., Benton, A. & Paulsen, J (1992). "Differentiating dementia from "pseudodementia" early in the clinical course: utility of neuropsychological tests". Neuropsychology. 6 (1): 13–21. doi:10.1037/0894-4105.6.1.13. ISSN 1931-1559.CS1 maint: multiple names: authors list (link)
5. ^ Kverno, Karan S. and Roseann Velez. “Comorbid Dementia and Depression: The Case for Integrated Care.” Journal for Nurse Practitioners Volume 14, Issue 3, March 2018, Pages 196-201. https://doi.org/10.1016/j.nurpra.2017.12.032
6. ^ Sjunaite, Karolina, Claudia Lanza, and Matthias W. Riepe. “Everyday false memories in older persons with depressive disorder.” Psychiatry Research 261 (2018): 456-463. https://doi.org/10.1016/j.psychres.2018.01.030
7. ^ Parker, Gordon; Dusan Hadzi-Pavlovic; Kerrie Eyers (1996). Melancholia: A disorder of movement and mood: A phenomenological and neurobiological review. Cambridge: Cambridge University Press. pp. 273–74. ISBN 0-521-47275-X.
8. ^ a b c Thakur, Mugdha Ekanath. "Pseudodementia." Encyclopedia of Health & Aging, edited by Kyriakos S. Markides, SAGE Reference, 2007, pp. 477-478. Gale Virtual Reference Library. Accessed 5 July 2018. (subscription required)
9. ^ Venes, Donald. Taber's Cyclopedic Medical Dictionary.Philadelphia: F.A. Davis Company, [2017] Print.
10. ^ Caine, ED (1981). "Pseudodementia. Current concepts and future directions". Archives of General Psychiatry. 38 (12): 1359–64. doi:10.1001/archpsyc.1981.01780370061008. PMID 7316680.
11. ^ Bulbena A, Berrios GE (1986). "Pseudodementia: Facts and figures". The British Journal of Psychiatry. 148 (1): 87–94. doi:10.1192/bjp.148.1.87. PMID 3955324.
12. ^ a b Warrell, David; Timothy, Cox; John, Firth (2010). "Oxford Textbook of Medicine": 5268–5283. doi:10.1093/med/9780199204854.003.2604. ISBN 9780199204854. Cite journal requires `|journal=` (help); `|chapter=` ignored (help)
13. ^ Folstein MF, Folstein SE, McHugh PR (November 1975). "'Mini-mental state'. A practical method for grading the cognitive state of patients for the clinician". J Psychiatr Res. 12 (3): 189–98. doi:10.1016/0022-3956(75)90026-6. PMID 1202204.
14. ^ Swartout-Corbeil, Deanna M., and Rebecca J. Frey. "Dementia." The Gale Encyclopedia of Nursing and Allied Health, edited by Brigham Narins, 3rd ed., vol. 2, Gale, 2013, pp. 966-976. Gale Virtual Reference Library. Accessed 20 Aug. 2018. (subscription required)
15. ^ Kiloh, Leslie Gordon (1961). "Pseudodementia". Acta Psychiatr Scand. 37 (4): 336–51. doi:10.1111/j.1600-0447.1961.tb07367.x. PMID 14455934. S2CID 221390518.
16. ^ Berrios GE (May 1985). ""Depressive pseudodementia" or "Melancholic dementia": a 19th century view". J. Neurol. Neurosurg. Psychiatry. 48 (5): 393–400. doi:10.1136/jnnp.48.5.393. PMC 1028324. PMID 3889224.
17. ^ McAllister, TW (May 1983). "Overview: Pseudodementia". American Journal of Psychiatry. 140 (5): 528–33. doi:10.1176/ajp.140.5.528. PMID 6342420.
18. ^ Poon, Leonard W (1991). "Toward an understanding of cognitive functioning in geriatric depression". International Psychogeriatrics. 4 (4): 241–66. doi:10.1017/S1041610292001297. PMID 1288665.
19. ^ Sachdev, Perminder; Reutens, Sharon (2003). "The Nondepressive Pseudodementias". In V. Olga B. Emery; Thomas E. Oxman (eds.). Dementia: Presentations, Differential Diagnosis, and Nosology. JHU Press. p. 418. ISBN 0-8018-7156-5.
## Further reading[edit]
* Sekhon S, Marwaha R (2020). "Depressive Cognitive Disorders (Pseudodementia)". Stat Pearls. PMID 32644682.
*[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-aminobutyric 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
|
Pseudodementia
|
c0033797
| 26,591 |
wikipedia
|
https://en.wikipedia.org/wiki/Pseudodementia
| 2021-01-18T18:29:52 |
{"mesh": ["D005162"], "umls": ["C0033797"], "wikidata": ["Q7254736"]}
|
A number sign (#) is used with this entry because of evidence that ichthyotic keratoderma, spasticity, hypomyelination, and dysmorphic facial features (IKSHD) is caused by heterozygous mutation in the ELOVL1 gene (611813) on chromosome 1p34.
Description
Ichthyotic keratoderma, spasticity, hypomyelination, and dysmorphic features (IKSHD) is characterized by epidermal hyperproliferation and increased keratinization, resulting in ichthyosis; hypomyelination of central white matter, causing spastic paraplegia and central nystagmus; and optic atrophy, resulting in reduction of peripheral vision and visual acuity (Mueller et al., 2019). In addition, patients exhibit mild facial dysmorphism (Kutkowska-Kazmierczak et al., 2018).
Clinical Features
Kutkowska-Kazmierczak et al. (2018) reported 2 unrelated Polish boys, aged 13 years (patient 1) and 4 years (patient 2), who both exhibited progressive skin dryness with hyperkeratosis and lower extremity spasticity. Other features included rotary nystagmus and sensorineural deafness, as well as mild facial dysmorphism, with wide eyebrows, long nose with bulbous tip, long philtrum, full lips, and relatively large ears. Intellectual development was normal. Brain MRIs showed globally impaired myelination, supra- and infratentorially; MRI at age 13 years in patient 1 showed slight atrophic progression involving the cerebral hemispheres and corpus callosum. The older boy was wheelchair-dependent, but the younger could walk with orthoses. The authors designated the disease to be a syndrome of 'ichthyotic keratoderma, spasticity, mild hypomyelination, and dysmorphic features (IKSHD).'
Independently, Mueller et al. (2019) studied the same 2 Polish boys reported by Kutkowska-Kazmierczak et al. (2018), ages 15 (patient 1) and 5 years (patient 2), who had dry, scaly, and thickened skin over the entire body, particularly over extensor joints, with hyper- and hypopigmented areas. Parents in both families mentioned an intermittent 'strange' body odor. The older patient also had thickened fingernails that split into horizontal layers; palms, soles, scalp, and mucous membranes were spared. Biopsy of affected skin from patient 1 showed ichthyosis, with thickening of the stratum corneum and spinosum, and electron microscopy revealed numerous lysosomes filled with lipopigment. Both patients also had progressive high frequency hearing deficit with onset in the first decade of life, and both exhibited horizontal nystagmus. Patient 1 had marked photophobia, progressive difficulty with night vision, and visual field constriction. Spectral domain-optical coherence tomography (SD-OCT) showed thinning of the peripapillary retinal nerve fiber layer in both patients; electroretinographic responses were normal. Both patients were wheelchair-dependent and had dysarthric speech. Neurologic examination of patient 1 at age 14 years revealed hyperreflexia, upgoing plantar reflexes, contractures of large joints, and equinovarus foot deformity. His arms were less severely affected, but showed some some contractures and muscle atrophy, although he was an elite wheelchair athlete. Patient 1 also reported intermittent stool incontinence and incomplete bladder voiding, and urodynamic investigation showed neurogenic bladder with detrusor-sphincter dyssynergia. Cranial MRIs showed nonprogressive hypomyelination in the posterior limb of the internal capsule and in the optic radiation in both patients, and somatosensory and acoustic evoked potentials were consistent with a brainstem and central conduction defect.
Molecular Genetics
In 2 unrelated Polish boys with IKSHD, Kutkowska-Kazmierczak et al. (2018) performed whole-exome sequencing and identified heterozygosity for a missense mutation in the ELOVL1 gene (S165F; 611813.0001). Calculation of kinship coefficient indicated no relationship between the 2 families, which was confirmed by analysis of ultra-rare variants other than the ELOVL1 mutation.
Mueller et al. (2019) independently studied the same 2 Polish boys with IKSHD reported by Kutkowska-Kazmierczak et al. (2018), and also identified heterozygosity for S165F in ELOVL1. Segregation analysis demonstrated that the variant arose de novo in both patients; founder haplotype analysis excluded a common ancestral origin of the mutation.
INHERITANCE \- Autosomal dominant HEAD & NECK Ears \- Sensorineural hearing loss, high frequency Eyes \- Nystagmus, horizontal high-frequency low-amplitude \- Photophobia \- Progressive difficulty with night vision \- Narrowing of visual field \- Astigmatism, high \- Reduced visual acuity \- Pale optic discs \- Thinning of peripapillary retinal nerve fiber layer seen on SD-OCT ABDOMEN Gastrointestinal \- Intermittent stool incontinence (patient A) GENITOURINARY Bladder \- Neurogenic bladder (patient A) SKIN, NAILS, & HAIR Skin \- Orange skin discoloration \- Unusual body odor \- Dry skin \- Ichthyotic scales within first year of life \- Hyperkeratotic skin, especially over extensor surfaces \- Acanthosis nigricans (nuchal, axillary, umbilical) Skin Histology \- Thickening of stratum corneum \- Thickening of stratum spinosum \- Reticular hyperkeratosis \- Focal parakeratosis \- Focal acanthosis \- Mixed infiltrations in papillary dermis \- 'Folded straw' hairs Electron Microscopy \- Numerous lysosomes filled with lipopigment Nails \- Thickened fingernails \- Horizontally split fingernails NEUROLOGIC Central Nervous System \- Spastic paraplegia of lower extremities \- Exaggerated deep tendon reflexes \- Upgoing plantar reflexes \- Dysarthric speech \- Neurogenic bladder \- Globally impaired myelination seen on MRI \- Slight atrophic progression of cerebral hemispheres \- Slight atrophic progression of corpus callosum \- Nonprogressive hypomyelination posterior limb of internal capsule \- Nonprogressive hypomyelination in optic radiation MISCELLANEOUS \- Based on report of 2 unrelated patients (last curated August 2019) MOLECULAR BASIS \- Caused by mutation in the elongation of very long chain fatty acids-like 1 gene (ELOVL1, 611813.0001 ) ▲ 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-aminobutyric 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
|
ICHTHYOTIC KERATODERMA, SPASTICITY, HYPOMYELINATION, AND DYSMORPHIC FACIAL FEATURES
|
None
| 26,592 |
omim
|
https://www.omim.org/entry/618527
| 2019-09-22T15:41:34 |
{"omim": ["618527"]}
|
Gerstmann syndrome is a very rare neurological disorder characterized by the specific association of acalculia, finger agnosia, left-right disorientation, and agraphia, which is supposed to be secondary to a focal subcortical white matter damage in the parietal lobe.
*[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-aminobutyric 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
|
Gerstmann syndrome
|
c0017494
| 26,593 |
orphanet
|
https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=221117
| 2021-01-23T18:41:45 |
{"gard": ["8660"], "mesh": ["D005862"], "umls": ["C0017494"], "icd-10": ["F81.2"]}
|
Prurigo simplex
SpecialtyDermatology
Prurigo simplex is a chronic, itchy, idiopathic skin condition characterized by extremely itchy skin nodules and lesions.[1]:57 Typically, there is no known direct cause of prurigo simplex, but some factors are known to trigger or aggravate it. This condition falls between chronic and acute, sometimes transitioning into a chronic condition. Many people experience a recurrence of the condition after periods of remission. Middle-aged patients are the most prone age group to this condition.
## Contents
* 1 Presentation
* 2 Treatment
* 3 Prognosis
* 4 References
## Presentation[edit]
The most common prurigo simplex symptoms are skin nodules resembling insect bites that are intensely itchy. These nodules are frequently scratched open, becoming lesions that continue to itch. Sometimes the skin thickens and becomes discolored around the nodules. The scalp, arms, legs and trunk of the body are the most frequent sites of the bumps and lesions. Itching can become severe and habitual, worsening the condition and possibly causing infections in the open sores.
## Treatment[edit]
Treatment is challenging, with narrow band UVB or pimozide sometimes helpful.
## Prognosis[edit]
Sometimes the nodules become less itchy and eventually disappear leaving a discolored area or scar tissue. The same nodules can persist for months or even years, though, without healing. Patients may experience a remission but then relapse with new nodules forming. The condition might also become chronic, with no periods of improvement and relief.
## References[edit]
1. ^ James, William; Berger, Timothy; Elston, Dirk (2005). Andrews' Diseases of the Skin: Clinical Dermatology. (10th ed.). Saunders. ISBN 0-7216-2921-0.
* v
* t
* e
Dermatitis and eczema
Atopic dermatitis
* Besnier's prurigo
Seborrheic dermatitis
* Pityriasis simplex capillitii
* Cradle cap
Contact dermatitis
(allergic, irritant)
* plants: Urushiol-induced contact dermatitis
* African blackwood dermatitis
* Tulip fingers
* other: Abietic acid dermatitis
* Diaper rash
* Airbag dermatitis
* Baboon syndrome
* Contact stomatitis
* Protein contact dermatitis
Eczema
* Autoimmune estrogen dermatitis
* Autoimmune progesterone dermatitis
* Breast eczema
* Ear eczema
* Eyelid dermatitis
* Topical steroid addiction
* Hand eczema
* Chronic vesiculobullous hand eczema
* Hyperkeratotic hand dermatitis
* Autosensitization dermatitis/Id reaction
* Candidid
* Dermatophytid
* Molluscum dermatitis
* Circumostomy eczema
* Dyshidrosis
* Juvenile plantar dermatosis
* Nummular eczema
* Nutritional deficiency eczema
* Sulzberger–Garbe syndrome
* Xerotic eczema
Pruritus/Itch/
Prurigo
* Lichen simplex chronicus/Prurigo nodularis
* by location: Pruritus ani
* Pruritus scroti
* Pruritus vulvae
* Scalp pruritus
* Drug-induced pruritus
* Hydroxyethyl starch-induced pruritus
* Senile pruritus
* Aquagenic pruritus
* Aquadynia
* Adult blaschkitis
* due to liver disease
* Biliary pruritus
* Cholestatic pruritus
* Prion pruritus
* Prurigo pigmentosa
* Prurigo simplex
* Puncta pruritica
* Uremic pruritus
Other
* substances taken internally: Bromoderma
* Fixed drug reaction
* Nummular dermatitis
* Pityriasis alba
* Papuloerythroderma of Ofuji
This 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-aminobutyric 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
|
Prurigo simplex
|
c0263352
| 26,594 |
wikipedia
|
https://en.wikipedia.org/wiki/Prurigo_simplex
| 2021-01-18T18:32:01 |
{"gard": ["7322"], "mesh": ["C537169"], "umls": ["C0263352"], "icd-9": ["698.2"], "icd-10": ["L28.2"], "wikidata": ["Q7253115"]}
|
Neuroleptic-induced deficit syndrome (NIDS) is a psychopathological syndrome that develops in some patients who take high doses of an antipsychotic for an extended time.[1] It is most often caused by high-potency typical antipsychotics, but can also be caused by high doses of many atypicals, especially those closer in profile to typical ones (that have higher D2 dopamine receptor affinity and relatively low 5-HT2 serotonin receptor binding affinity), like paliperidone and amisulpride.[2]
## Symptoms[edit]
Neuroleptic induced deficit syndrome is principally characterized by the same symptoms that constitute the negative symptoms of schizophrenia: emotional blunting, apathy, hypobulia, anhedonia, indifference, difficulty or total inability in thinking, difficulty or total inability in concentrating, lack of initiative, attention deficits, and desocialization.[2] This can easily lead to misdiagnosis and mistreatment. Instead of decreasing the antipsychotic, the doctor may increase their dose to try to "improve" what they perceive to be negative symptoms of schizophrenia, rather than antipsychotic side effects.[citation needed] The concept of neuroleptic induced deficit syndrome was initially presented for schizophrenia, and it has rarely been associated in other mental disorders.[2] In recent years, atypical neuroleptics are being more often managed to patients with bipolar disorder, so some studies about neuroleptic-induced deficit syndrome in bipolar disorder patients now available.[2]
There are significant difficulties in the differential diagnosis of primary negative symptoms and neuroleptic deficiency syndrome (secondary negative symptoms), as well as depression.[3]
## Case[edit]
A Japanese man, who was being treated for schizophrenia, exhibited neuroleptics-induced deficit syndrome and obsessive–compulsive symptoms.[4] His symptoms were remarkably improved by quitting a course of antipsychotics followed by the introduction of the antidepressant fluvoxamine.[4] He had been misdiagnosed with schizophrenia, the real diagnosis was obsessive–compulsive disorder.[4]
## References[edit]
1. ^ "Neuroleptic Induced Deficit Syndrome". J Clin Psychiatry. 54: 493–500. PMID 7903967.
2. ^ a b c d Ueda S, Sakayori T, Omori A, Fukuta H, Kobayashi T, Ishizaka K, et al. (2016). "Neuroleptic-induced deficit syndrome in bipolar disorder with psychosis". Neuropsychiatr Dis Treat. 12: 265–268. doi:10.2147/NDT.S99577. PMC 4745952. PMID 26893564.
3. ^ Barnes TR, McPhillips MA (1995). "How to distinguish between the neuroleptic-induced deficit syndrome, depression and disease-related negative symptoms in schizophrenia". Int Clin Psychopharmacol. 10 Suppl 3: 115–121. doi:10.1097/00004850-199509000-00015. PMID 8866773.
4. ^ a b c Machida N, Shiotsuka S, Semba J (2005). 強迫性障害と抗精神病薬による欠陥症候群(NIDS)の合併例に抗精神病薬中止とSSRIが奏効した一例 [Case of obsessive-compulsive disorder associated with neuroleptics-induced deficit syndrome (NIDS): successfully treated by discontinuation of neuroleptics followed by SSRI.]. 精神神経学雑誌 [Seishin Shinkeigaku Zasshi] (in Japanese). 107 (7): 667–673. PMID 16146185.
*[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-aminobutyric 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
|
Neuroleptic-induced deficit syndrome
|
c3854473
| 26,595 |
wikipedia
|
https://en.wikipedia.org/wiki/Neuroleptic-induced_deficit_syndrome
| 2021-01-18T18:56:34 |
{"umls": ["C3854473"], "wikidata": ["Q4316445"]}
|
A number sign (#) is used with this entry because of evidence that spastic paraplegia-63 (SPG63) is caused by homozygous mutation in the AMPD2 gene (102771) on chromosome 1p13. One such family has been reported.
For a discussion of genetic heterogeneity of autosomal recessive SPG, see SPG5A (270800).
Clinical Features
Novarino et al. (2014) reported a highly consanguineous family (family 1526) in which 2 cousins presented at 14 months of age with delayed walking and a scissors gait. Both were hypertonic; at 20 and 5 years of age, respectively, they could walk unsupported, with abnormal gait. Both had increased deep tendon reflexes and normal cognition. The younger cousin had a brain MRI that showed periventricular deep white matter changes in the corpus callosum.
Molecular Genetics
In affected members of a consanguineous family segregating spastic paraplegia, Novarino et al. (2014) identified a homozygous frameshift mutation in the AMPD2 gene (102771.0001).
INHERITANCE \- Autosomal recessive GROWTH Height \- Short stature (1 patient) Weight \- Underweight (1 patient) MUSCLE, SOFT TISSUES \- Amyotrophy (1 patient) NEUROLOGIC Central Nervous System \- Thin corpus callosum (1 patient) \- Periventricular deep white matter changes (1 patient) Peripheral Nervous System \- Delayed walking \- Scissors gait \- Spasticity, mild \- Increased deep tendon reflexes \- Plantar reflex \- Normal cognition MISCELLANEOUS \- Based on 2 cousins in a consanguineous family (last curated August 2015) MOLECULAR BASIS \- Caused by mutation in the adenosine monophosphate deaminase-2, isoform L gene (AMPD2, 102771.0001 ) ▲ 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-aminobutyric 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
|
SPASTIC PARAPLEGIA 63, AUTOSOMAL RECESSIVE
|
c3810295
| 26,596 |
omim
|
https://www.omim.org/entry/615686
| 2019-09-22T15:51:16 |
{"doid": ["0110814"], "omim": ["615686"], "orphanet": ["401805"], "synonyms": ["SPG63"]}
|
A number sign (#) is used with this entry because white blood cell count as a quantitative trait is associated with a single-nucleotide polymorphism in the ACKR1 gene (613665), which encodes the Duffy blood group antigen.
Mapping
Peripheral white blood cell count (WBC) is a clinical measurement, used to determine evidence of acute inflammation or infection. In addition to elevation or depression of white blood cell levels with clinical disorders, peripheral WBC is known to vary among different racial and ethnic groups. Specifically, WBC is lower among African Americans than among European Americans (Bain et al., 1984; Reed and Diehl, 1991). Using admixture mapping, Nalls et al. (2008) analyzed data from African American participants in 2 population studies. Participants of both studies were genotyped across more than 1,322 SNPs that were preselected to be informative for African versus European ancestry and span the entire genome. Nalls et al. (2008) used these markers to estimate genetic ancestry in each chromosomal region and then tested the association between WBC and genetic ancestry at each locus. They found a locus on chromosome 1q strongly associated with WBC (p less than 10(-12)). The strongest association was with a single-nucleotide polymorphism (SNP) in the ACKR1 gene, rs2814778, a marker known to eliminate expression of the Duffy blood group antigen (see 613665.0002). Participants who had both copies of the common West African allele had a mean WBC of 4.9 (standard deviation 1.3); participants who had both common European alleles had a mean WBC of 7.1 (standard deviation 1.3). This variant explained approximately 20% of population variation in WBC.
Molecular Genetics
By quadrupling the sample size from the Nalls et al. (2008) study, Reich et al. (2009) showed that low WBC in African Americans, which they referred to as benign ethnic neutropenia, primarily results from reduced neutrophil count due to homozygosity for the Duffy-null SNP, rs2814778, rather than to ancestry alone. Reich et al. (2009) noted the clinical significance of the lower neutrophil counts in individuals homozygous for the Duffy-null variant in medical decision making, as WBC is a marker of immunocompetence, infection, and inflammation, and they proposed the potential utility of rs2814778 genotyping.
INHERITANCE \- Autosomal recessive HEMATOLOGY \- Neutropenia, benign MISCELLANEOUS \- Homozygosity for the common West African allele (rs2814778) eliminates expression of the Duffy blood group antigen and explains approximately 20% of population variation in white blood cell count (WBC) MOLECULAR BASIS \- Caused by mutation in the atypical chemokine receptor 1 gene (ACKR1, 613665.0002 ) ▲ Close
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-aminobutyric 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
|
WHITE BLOOD CELL COUNT QUANTITATIVE TRAIT LOCUS 1
|
c2676078
| 26,597 |
omim
|
https://www.omim.org/entry/611862
| 2019-09-22T16:02:49 |
{"omim": ["611862"]}
|
Idiopathic osteoporosis of childhood or adolescence without blue sclerae and other stigmata of osteogenesis imperfecta is occasionally observed and sometimes more than one sib is affected. This condition, which may be a distinct recessively inherited entity, was delineated by Dent and Friedman (1965) and was reviewed by Dent (1969). The condition described by Chowers et al. (1962) may fall into this category, but the presence of amino aciduria and low serum uric acid makes a renal tubular defect of the Fanconi type likely. Marder et al. (1982) demonstrated low plasma calcitriol (1,25-dihydroxycholecalciferol) and normal serum calcifediol (25-hydroxycholecalciferol) in a 12-year-old girl with idiopathic juvenile osteoporosis. Deficiency of calcitonin has been suspected in cases of IJO, but exogenous calcitonin, in the experience of Jackson et al. (1988), had no benefit. Although IJO heals spontaneously in conjunction with sexual maturation, exogenous estrogen and androgen treatment has not been beneficial. Teotia et al. (1979) described 4 affected children and tabulated the features of 27 other reported patients.
Skel \- Osteoporosis developing in childhood or adolescence \- Low plasma calcitriol (1,25-dihydroxycholecalciferol) \- Normal serum calcifediol (25-hydroxycholecalciferol) Eyes \- Normal sclerae Misc \- Healing with sexual maturation GU \- Normal renal function Inheritance \- Autosomal recessive ▲ Close
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-aminobutyric 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
|
OSTEOPOROSIS, JUVENILE
|
c0264080
| 26,598 |
omim
|
https://www.omim.org/entry/259750
| 2019-09-22T16:23:50 |
{"doid": ["12559"], "mesh": ["C537700"], "omim": ["259750"], "orphanet": ["85193"], "synonyms": ["Alternative titles", "IDIOPATHIC JUVENILE OSTEOPOROSIS"]}
|
## Description
Pseudohypoparathyroidism (PHP) is a term applied to a heterogeneous group of disorders whose common feature is resistance to parathyroid hormone (PTH; 168450). PHP type II is characterized by a normal cAMP response to PTH infusion, but a deficient phosphaturic response, indicating a defect distal to cAMP generation in renal cells. The clinical features of Albright hereditary osteodystrophy (AHO; see 103580) are not present in PHP II (Mantovani and Spada, 2006).
For a general phenotypic description, classification, and a discussion of molecular genetics of pseudohypoparathyroidism, see PHP1A (103580).
Clinical Features
Patients with PHP type II have hypocalcemia, hyperphosphatemia, and increased serum PTH. They lack physical features associated with AHO. Patients with PHP type I have an abnormally low urinary excretion of cyclic AMP in response to PTH administration; this finding distinguishes type I pseudohypoparathyroidism from type II, in which the cyclic AMP response is normal or elevated (Rodriguez et al., 1974) but the phosphaturic response is deficient.
Drezner et al. (1973) described a 22-month-old boy with grand-mal seizures and hypocalcemia who showed elevated serum PTH and a marked rise in urinary cyclic AMP in response to exogenously administered PTH extract. There were no physical abnormalities. However, neither the renal tubular handling of phosphate nor the serum calcium concentration responded appropriately to administered parathyroid hormone. They postulated a defect distal to PTH-stimulated cAMP production in the intracellular reception of the cyclic AMP message. No family data were given.
Rao et al. (1985) noted that exclusion of vitamin D deficiency should be considered in the diagnosis of PHP II.
Farfel et al. (1981) found normal erythrocyte Gs protein activity in a patient with PHP type II, defined as having hypocalcemia, elevated serum PTH, and increased or normal cAMP response to PTH infusion.
INHERITANCE \- Isolated cases ENDOCRINE FEATURES \- Pseudohypoparathyroidism LABORATORY ABNORMALITIES \- Hypocalcemia \- Hyperphosphatemia \- Elevated serum parathyroid hormone (PTH) level \- Normal or increased urinary cyclic AMP response to PTH administration ▲ 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-aminobutyric 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
|
PSEUDOHYPOPARATHYROIDISM, TYPE II
|
c2932717
| 26,599 |
omim
|
https://www.omim.org/entry/203330
| 2019-09-22T16:31:23 |
{"mesh": ["C548077"], "omim": ["203330"], "orphanet": ["94090"], "synonyms": ["Alternative titles", "PHP II"]}
|
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