CPVT
MCID: CTC001
MIFTS: 51

Catecholaminergic Polymorphic Ventricular Tachycardia (CPVT) malady

Genetic diseases category

Summaries for Catecholaminergic Polymorphic Ventricular Tachycardia

About this section
Sources:
21Genetics Home Reference, 42NIH Rare Diseases, 63Wikipedia, 19GeneReviews, 32MalaCards
See all sources

Fully expand this MalaCard

Export this MalaCard
NIH Rare Diseases:42 Catecholaminergic polymorphic ventricular tachycardia (cpvt) is a genetic disorder that causes an abnormally fast and irregular heart rhythm in response to physical activity or emotional stress. signs and symptoms include light-headedness, dizziness, and fainting. if untreated cpvt can cause a heart attack and death. cpvt is caused by mutations in the ryr2 or casq2 genes. when a ryr2 gene mutation is involved, the condition is passed through families in an autosomal dominant fashion. when casq2 gene mutations are involved, the condition is inherited in an autosomal recessive fashion. in some cases the underlying cause can not be determined. last updated: 1/25/2013

MalaCards: Catecholaminergic Polymorphic Ventricular Tachycardia, also known as catecholamine-induced polymorphic ventricular tachycardia, is related to long qt syndrome and sudden cardiac death multi-gene panels. An important gene associated with Catecholaminergic Polymorphic Ventricular Tachycardia is CASQ2 (calsequestrin 2 (cardiac muscle)), and among its related pathways are Netrin Signaling and DREAM Repression and Dynorphin Expression. The compounds spermine and 4-chloro-m-cresol have been mentioned in the context of this disorder. Affiliated tissues include heart and testes, and related mouse phenotypes are muscle and mortality/aging.

Genetics Home Reference:21 Catecholaminergic polymorphic ventricular tachycardia (CPVT) is a condition characterized by an abnormal heart rhythm (arrhythmia). As the heart rate increases in response to physical activity or emotional stress, it can trigger an abnormally fast and irregular heartbeat called ventricular tachycardia. Episodes of ventricular tachycardia can cause light-headedness, dizziness, and fainting (syncope). In people with CPVT, these episodes typically begin in childhood.

Wikipedia:63 Catecholaminergic Polymorphic Ventricular Tachycardia (CPVT) is a rhythm disorder of the ventricles of... more...

GeneReviews summary for cvt

Aliases & Classifications for Catecholaminergic Polymorphic Ventricular Tachycardia

About this section
Sources:
19GeneReviews, 42NIH Rare Diseases, 20GeneTests, 22GTR, 21Genetics Home Reference, 60UMLS, 44Novoseek
See all sources

Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases


Aliases & Descriptions:

catecholaminergic polymorphic ventricular tachycardia 19 42 20 22 21
catecholamine-induced polymorphic ventricular tachycardia 19 42 21
familial polymorphic ventricular tachycardia 19 42 21
fpvt 19 21
cpvt 19 21
ventricular tachycardia, catecholaminergic polymorphic, 1 60
ventricular tachycardia, catecholaminergic polymorphic 44
bidirectional tachycardia induced by catecholamines 21
bidirectional tachycardia induced by catecholamine 42
ventricular tachycardia, familial polymorphic 44
double tachycardia induced by catecholamines 42
cvpt 42


Related Diseases for Catecholaminergic Polymorphic Ventricular Tachycardia

About this section
Sources:
17GeneCards, 18GeneDecks
See all sources

Diseases in the Ventricular Tachycardia, Catecholaminergic Polymorphic, 2 family:

catecholaminergic polymorphic ventricular tachycardia Ryr2-Related Catecholaminergic Polymorphic Ventricular Tachycardia
Casq2-Related Catecholaminergic Polymorphic Ventricular Tachycardia Trdn-Related Catecholaminergic Polymorphic Ventricular Tachycardia
Calm1-Related Catecholaminergic Polymorphic Ventricular Tachycardia Ventricular Tachycardia, Catecholaminergic Polymorphic, 1
Ventricular Tachycardia, Catecholaminergic Polymorphic, 3 Ventricular Tachycardia, Catecholaminergic Polymorphic, 4

Diseases related to Catecholaminergic Polymorphic Ventricular Tachycardia via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show all 24)
idRelated DiseaseScoreTop Affiliating Genes
1long qt syndrome31.1RYR2, ANK2, KCNJ2
2sudden cardiac death multi-gene panels30.5KCNJ2, ANK2, FKBP1B, RYR2, RYR1
3malignant hyperthermia30.5RYR1, RYR2, CASQ2
4brugada syndrome10.6
5ryr2-related catecholaminergic polymorphic ventricular tachycardia10.5
6casq2-related catecholaminergic polymorphic ventricular tachycardia10.5
7trdn-related catecholaminergic polymorphic ventricular tachycardia10.5
8calm1-related catecholaminergic polymorphic ventricular tachycardia10.5
9ventricular tachycardia, catecholaminergic polymorphic, 110.5
10ventricular tachycardia, catecholaminergic polymorphic, 5, with or without muscle weakness10.5
11ventricular tachycardia, catecholaminergic polymorphic, 310.5
12ventricular tachycardia, catecholaminergic polymorphic, 410.5
13andersen-tawil syndrome10.3
14short qt syndrome10.3
15familial ventricular tachycardia10.3
16long qt syndrome 410.3
17ventricular tachycardia, catecholaminergic polymorphic, 210.3
18malignant hyperthermia susceptibility10.0RYR1
19arrhythmogenic right ventricular dysplasia10.0RYR1, RYR2
20congenital heart defect10.0RYR2, KCNJ2
21myopathy10.0RYR1, CASQ2
22central core myopathy10.0RYR1, RYR2
23dilated cardiomyopathy10.0RYR1, RYR2, CALR
24hypokalemic periodic paralysis10.0RYR1, KCNJ2

Graphical network of the top 20 diseases related to Catecholaminergic Polymorphic Ventricular Tachycardia:



Diseases related to catecholaminergic polymorphic ventricular tachycardia

Clinical Features for Catecholaminergic Polymorphic Ventricular Tachycardia

About this section

Drugs & Therapeutics for Catecholaminergic Polymorphic Ventricular Tachycardia

About this section
Sources:
5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials, 60UMLS, 40NDF-RT
See all sources

Approved drugs:

Search CenterWatch for Catecholaminergic Polymorphic Ventricular Tachycardia

Drug clinical trials:

Search ClinicalTrials for Catecholaminergic Polymorphic Ventricular Tachycardia

Search NIH Clinical Center for Catecholaminergic Polymorphic Ventricular Tachycardia

Search CenterWatch for Catecholaminergic Polymorphic Ventricular Tachycardia

Genetic Tests for Catecholaminergic Polymorphic Ventricular Tachycardia

About this section
Sources:
20GeneTests, 22GTR
See all sources

Genetic tests related to Catecholaminergic Polymorphic Ventricular Tachycardia:

id Genetic test Affiliating Genes
1 Catecholaminergic Polymorphic Ventricular Tachycardia Multi-Gene Panels20
2 Catecholaminergic Polymorphic Ventricular Tachycardia20 22 TRDN

Anatomical Context for Catecholaminergic Polymorphic Ventricular Tachycardia

About this section
Sources:
32MalaCards
See all sources

MalaCards organs/tissues related to Catecholaminergic Polymorphic Ventricular Tachycardia:

32
Heart, Testes

Animal Models for Catecholaminergic Polymorphic Ventricular Tachycardia or affiliated genes

About this section
Sources:
36MGI
See all sources

MGI Mouse Phenotypes related to Catecholaminergic Polymorphic Ventricular Tachycardia:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053696.8ASPH, KCNJ2, CASQ2, CALR, TRDN, FKBP1B
2MP:00107686.6CAMP, CALR, ANK2, FKBP1B, RYR2, RYR1
3MP:00053856.6KCNJ2, CASQ2, CALR, ANK2, FKBP1B, RYR2
4MP:00053766.4KCNJ2, CASQ2, CALR, ANK2, FKBP1B, RYR2

Publications for Catecholaminergic Polymorphic Ventricular Tachycardia

About this section
Sources:
50PubMed
See all sources

Articles related to Catecholaminergic Polymorphic Ventricular Tachycardia:

(show top 50)    (show all 168)
idTitleAuthorsYear
1
Outcomes of defibrillator therapy in catecholaminergic polymorphic ventricular tachycardia. (24120999)
2014
2
Triple mode of action of flecainide in catecholaminergic polymorphic ventricular tachycardia: reply. (23536607)
2013
3
Abnormal propagation of calcium waves and ultrastructural remodeling in recessive catecholaminergic polymorphic ventricular tachycardia. (23674379)
2013
4
Atrial arrhythmogenesis in catecholaminergic polymorphic ventricular tachycardia--is there a mechanistic link between sarcoplasmic reticulum Ca(2+) leak and re-entry? (23157571)
2013
5
Complex atrial arrhythmias as first manifestation of catecholaminergic polymorphic ventricular tachycardia: an unusual course in a patient with a new mutation in ryanodine receptor type 2 gene. (23985380)
2013
6
S4153R is a gain-of-function mutation in the cardiac Ca(2+) release channel ryanodine receptor associated with catecholaminergic polymorphic ventricular tachycardia and paroxysmal atrial fibrillation. (23498838)
2013
7
Post-natal heart adaptation in a knock-in mouse model of calsequestrin 2-linked recessive catecholaminergic polymorphic ventricular tachycardia. (24370574)
2013
8
Flecainide and antiarrhythmic effects in a mouse model of catecholaminergic polymorphic ventricular tachycardia. (22867967)
2012
9
Guidelines for the diagnosis and management of Catecholaminergic Polymorphic Ventricular Tachycardia. (22119737)
2012
10
Calsequestrin mutations and catecholaminergic polymorphic ventricular tachycardia. (22421959)
2012
11
Bidirectional ventricular tachycardia: a hallmark of catecholaminergic polymorphic ventricular tachycardia. (22557844)
2012
12
Dantrolene rescues arrhythmogenic RYR2 defect in a patient-specific stem cell model of catecholaminergic polymorphic ventricular tachycardia. (22174035)
2012
13
Therapeutic approach for patients with catecholaminergic polymorphic ventricular tachycardia: state of the art and future developments. (21893508)
2012
14
Successful catheter ablation of bidirectional ventricular premature contractions triggering ventricular fibrillation in catecholaminergic polymorphic ventricular tachycardia with RyR2 mutation. (22334434)
2012
15
Cell model of catecholaminergic polymorphic ventricular tachycardia reveals early and delayed afterdepolarizations. (22962621)
2012
16
Mechanism of antiarrhythmic effects of flecainide in catecholaminergic polymorphic ventricular tachycardia. (21885838)
2011
17
Flecainide therapy reduces exercise-induced ventricular arrhythmias in patients with catecholaminergic polymorphic ventricular tachycardia. (21616285)
2011
18
A novel mutation in the RYR2 gene leading to catecholaminergic polymorphic ventricular tachycardia and paroxysmal atrial fibrillation: dose-dependent arrhythmia-event suppression by I^-blocker therapy. (21652165)
2011
19
Postpacing abnormal repolarization in catecholaminergic polymorphic ventricular tachycardia associated with a mutation in the cardiac ryanodine receptor gene. (21699856)
2011
20
Arrhythmia characterization and long-term outcomes in catecholaminergic polymorphic ventricular tachycardia. (21315846)
2011
21
Are there juvenile and adult types in patients with catecholaminergic polymorphic ventricular tachycardia? (21338709)
2011
22
Catecholaminergic polymorphic ventricular tachycardia: important messages from case reports. (20851823)
2011
23
Serotonin and catecholaminergic polymorphic ventricular tachycardia: a possible therapeutic role for SSRIs? (20838725)
2010
24
Clinical effectiveness of pulmonary vein isolation for arrhythmic events in a patient with catecholaminergic polymorphic ventricular tachycardia. (20676970)
2010
25
Anesthesia for videoscopic left cardiac sympathetic denervation in children with congenital long QT syndrome and catecholaminergic polymorphic ventricular tachycardia--a case series. (20337957)
2010
26
Increased Ca2+ sensitivity of the ryanodine receptor mutant RyR2R4496C underlies catecholaminergic polymorphic ventricular tachycardia. (19096022)
2009
27
Catecholaminergic polymorphic ventricular tachycardia: a current overview. (19371192)
2009
28
Mechanisms and clinical management of inherited channelopathies: long QT syndrome, Brugada syndrome, catecholaminergic polymorphic ventricular tachycardia, and short QT syndrome. (19631908)
2009
29
Protein kinase A-dependent biophysical phenotype for V227F-KCNJ2 mutation in catecholaminergic polymorphic ventricular tachycardia. (19843922)
2009
30
Incidence and risk factors of arrhythmic events in catecholaminergic polymorphic ventricular tachycardia. (19398665)
2009
31
Flecainide prevents catecholaminergic polymorphic ventricular tachycardia in mice and humans. (19330009)
2009
32
Catecholaminergic polymorphic ventricular tachycardia in a child: a case report. (18052993)
2008
33
Catecholaminergic polymorphic ventricular tachycardia caused by a novel mutation in the cardiac ryanodine receptor. (18849218)
2008
34
A case of catecholaminergic polymorphic ventricular tachycardia caused by two calsequestrin 2 mutations. (18684293)
2008
35
U-waves and T-wave peak to T-wave end intervals in patients with catecholaminergic polymorphic ventricular tachycardia, effects of beta-blockers. (18929323)
2008
36
Sudden death in a young man with catecholaminergic polymorphic ventricular tachycardia and paroxysmal atrial fibrillation. (18554199)
2008
37
A novel early onset lethal form of catecholaminergic polymorphic ventricular tachycardia maps to chromosome 7p14-p22. (17666061)
2007
38
Association of atrial arrhythmia and sinus node dysfunction in patients with catecholaminergic polymorphic ventricular tachycardia. (17895559)
2007
39
Mutant ryanodine receptors in catecholaminergic polymorphic ventricular tachycardia generate delayed afterdepolarizations due to increased propensity to Ca2+ waves. (17347175)
2007
40
The molecular basis of catecholaminergic polymorphic ventricular tachycardia: what are the different hypotheses regarding mechanisms? (17556207)
2007
41
Diagnosis and treatment of catecholaminergic polymorphic ventricular tachycardia. (17467641)
2007
42
Arrhythmogenesis in catecholaminergic polymorphic ventricular tachycardia: insights from a RyR2 R4496C knock-in mouse model. (16825580)
2006
43
Genotypic heterogeneity and phenotypic mimicry among unrelated patients referred for catecholaminergic polymorphic ventricular tachycardia genetic testing. (16818210)
2006
44
Clinical phenotype and functional characterization of CASQ2 mutations associated with catecholaminergic polymorphic ventricular tachycardia. (16908766)
2006
45
Molecular pathogenesis of catecholaminergic polymorphic ventricular tachycardia: sex matters! (16818211)
2006
46
Casq2 deletion causes sarcoplasmic reticulum volume increase, premature Ca2+ release, and catecholaminergic polymorphic ventricular tachycardia. (16932808)
2006
47
A novel mutation in FKBP12.6 binding region of the human cardiac ryanodine receptor gene (R2401H) in a Japanese patient with catecholaminergic polymorphic ventricular tachycardia. (15749201)
2005
48
Catecholaminergic polymorphic ventricular tachycardia, recurrent syncope, and implantable loop recorder. (15175074)
2004
49
RYR2 and CASQ2 mutations in patients suffering from catecholaminergic polymorphic ventricular tachycardia. (12551888)
2003
50
Catecholaminergic polymorphic ventricular tachycardia: electrocardiographic characteristics and optimal therapeutic strategies to prevent sudden death. (12482795)
2003

Genetic Variations for Catecholaminergic Polymorphic Ventricular Tachycardia

About this section

Expression for genes affiliated with Catecholaminergic Polymorphic Ventricular Tachycardia

About this section
Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
See all sources
Expression patterns in normal tissues for genes affiliated with Catecholaminergic Polymorphic Ventricular Tachycardia

Search GEO for disease gene expression data for Catecholaminergic Polymorphic Ventricular Tachycardia.

Pathways for genes affiliated with Catecholaminergic Polymorphic Ventricular Tachycardia

About this section
Sources:
51QIAGEN, 37NCBI BioSystems Database, 53Reactome, 49PharmGKB
See all sources

Compounds for genes affiliated with Catecholaminergic Polymorphic Ventricular Tachycardia

About this section
Sources:
44Novoseek, 28IUPHAR, 11DrugBank, 24HMDB, 59Tocris Bioscience, 49PharmGKB, 2BitterDB
See all sources

Compounds related to Catecholaminergic Polymorphic Ventricular Tachycardia according to GeneCards/GeneDecks:

(show all 28)
idCompoundScoreTop Affiliating Genes
1spermine44 28 11 2412.7CALR, KCNJ2
24-chloro-m-cresol449.7RYR2, RYR1
3cyclic adp-ribose449.6RYR1, RYR2
4procaine44 28 1111.6RYR1, RYR2
5ruthenium red289.6RYR2, RYR1
6dantrolene44 28 1111.6RYR2, RYR1
7ca2+289.4RYR1, RYR2
8naphthoquinone449.4RYR1, TRDN
9mg2+289.3RYR1, RYR2, KCNJ2
102-mercaptoethanol449.3TRDN, RYR1
11ruthenium449.2TRDN, RYR2, RYR1
12thapsigargin44 5910.2RYR1, RYR2, CALR
13carvedilol44 49 28 1112.1RYR1, RYR2, FKBP1B
14tacrolimus44 49 1111.0FKBP1B, RYR2, RYR1
15halothane44 28 1110.9RYR1, CALR
16potassium44 11 2410.9KCNJ2, CAMP, RYR2, RYR1
17chloride448.9CAMP, CALR, RYR2, RYR1
18phospholipid448.9CAMP, RYR2, RYR1
19magnesium44 11 2410.8RYR1, RYR2, CALR, KCNJ2
20inositol 1,4,5 trisphosphate448.6CALR, ANK2, RYR2, RYR1
21dihydropyridine448.6CALR, TRDN, RYR1, ASPH
22caffeine44 49 28 2 11 2413.6RYR1, RYR2, FKBP1B, TRDN
23nitric oxide44 11 2410.6CAMP, CALR, RYR2, RYR1
24glutamate448.6RYR1, RYR2, CALR, CAMP
25isoproterenol44 119.5KCNJ2, CAMP, FKBP1B, RYR2, RYR1
26lipid448.2CAMP, CALR, FKBP1B, RYR2, RYR1
27ryanodine44 28 598.9ASPH, CASQ2, CALR, ANK2, TRDN, FKBP1B
28calcium44 49 11 249.2KCNJ2, CAMP, CASQ2, CALR, ANK2, TRDN

GO Terms for genes affiliated with Catecholaminergic Polymorphic Ventricular Tachycardia

About this section
Sources:
16Gene Ontology
See all sources

Cellular components related to Catecholaminergic Polymorphic Ventricular Tachycardia according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1voltage-gated calcium channel complexGO:0058919.4CASQ2, TRDN
2intracellularGO:0056229.1ANK2, CALR, CASQ2
3junctional membrane complexGO:0303149.1RYR1, TRDN
4sarcoplasmic reticulum lumenGO:0330188.9CASQ2, CALR, TRDN, ASPH
5T-tubuleGO:0303158.9ANK2, RYR1
6Z discGO:0300188.8CASQ2, ANK2, FKBP1B, RYR2
7sarcoplasmic reticulumGO:0165298.6RYR1, RYR2, TRDN, CASQ2
8calcium channel complexGO:0347048.5ASPH, RYR2, FKBP1B, TRDN, CASQ2
9junctional sarcoplasmic reticulum membraneGO:0147018.3CASQ2, TRDN, RYR2, RYR1, ASPH
10sarcoplasmic reticulum membraneGO:0330177.8ASPH, RYR1, RYR2, FKBP1B, TRDN, CASQ2

Biological processes related to Catecholaminergic Polymorphic Ventricular Tachycardia according to GeneCards/GeneDecks:

(show all 32)
idNameGO IDScoreTop Affiliating Genes
1Purkinje myocyte to ventricular cardiac muscle cell signalingGO:08602910.2CASQ2, RYR2
2sequestering of calcium ionGO:05120810.1CASQ2, CALR
3regulation of membrane repolarizationGO:06030610.1KCNJ2, CASQ2
4positive regulation of sequestering of calcium ionGO:05128410.0FKBP1B, RYR2
5cell communication by electrical coupling involved in cardiac conductionGO:0860649.9FKBP1B, RYR2
6response to redox stateGO:0517759.9FKBP1B, RYR2
7protein maturation by protein foldingGO:0224179.8CALR, FKBP1B
8sarcoplasmic reticulum calcium ion transportGO:0702969.8RYR2, ANK2
9calcium-mediated signaling using intracellular calcium sourceGO:0355849.8FKBP1B, RYR2
10detection of calcium ionGO:0055139.8CASQ2, RYR2, ASPH
11positive regulation of ryanodine-sensitive calcium-release channel activityGO:0603169.8TRDN, ASPH
12regulation of ryanodine-sensitive calcium-release channel activityGO:0603149.7FKBP1B, ASPH
13regulation of cardiac muscle contractionGO:0551179.6RYR2, ANK2
14regulation of cell communication by electrical couplingGO:0106499.6ASPH, TRDN, CASQ2
15regulation of heart rateGO:0020279.6CASQ2, ANK2, RYR2
16regulation of release of sequestered calcium ion into cytosolGO:0512799.6TRDN, ANK2
17cardiac muscle contractionGO:0600489.6RYR2, ANK2, CASQ2
18regulation of ventricular cardiac muscle cell action potentialGO:0860059.5RYR2, ANK2
19response to caffeineGO:0310009.5RYR2, RYR1
20negative regulation of ryanodine-sensitive calcium-release channel activityGO:0603159.5FKBP1B, TRDN, CASQ2
21cellular response to caffeineGO:0713139.4CASQ2, RYR2, RYR1
22regulation of heart rate by cardiac conductionGO:0860919.4KCNJ2, ANK2
23regulation of protein stabilityGO:0316479.4ASPH, ANK2
24cytosolic calcium ion homeostasisGO:0514809.2FKBP1B, RYR2, RYR1
25regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulumGO:0108809.1CASQ2, TRDN, FKBP1B, ASPH
26release of sequestered calcium ion into cytosolGO:0512099.0RYR1, RYR2
27cellular calcium ion homeostasisGO:0068749.0RYR2, TRDN, ANK2, CALR
28ion transmembrane transportGO:0342208.9RYR1, RYR2, TRDN, CASQ2
29release of sequestered calcium ion into cytosol by sarcoplasmic reticulumGO:0148088.7TRDN, FKBP1B, RYR2, RYR1
30regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ionGO:0108818.7ASPH, RYR2, FKBP1B, ANK2, CASQ2
31transmembrane transportGO:0550858.6CASQ2, TRDN, RYR2, RYR1
32muscle contractionGO:0069368.5TRDN, FKBP1B, RYR1, ASPH

Molecular functions related to Catecholaminergic Polymorphic Ventricular Tachycardia according to GeneCards/GeneDecks:

(show all 7)
idNameGO IDScoreTop Affiliating Genes
1calcium-release channel activityGO:0152789.3RYR2, RYR1
2calcium channel activityGO:0052629.3RYR1, RYR2
3protein binding, bridgingGO:0306749.0TRDN, ANK2
4ryanodine-sensitive calcium-release channel activityGO:0052198.9FKBP1B, RYR2, RYR1
5calcium ion bindingGO:0055098.2ASPH, RYR1, RYR2, CALR, CASQ2
6ion channel bindingGO:0443258.2ASPH, RYR2, FKBP1B, TRDN, ANK2
7protein bindingGO:0055156.0CAMP, CASQ2, CALR, ANK2, TRDN, FKBP1B

Products for genes affiliated with Catecholaminergic Polymorphic Ventricular Tachycardia

About this section
  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Catecholaminergic Polymorphic Ventricular Tachycardia

About this section
3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet