CPVT
MCID: CTC001
MIFTS: 57

Catecholaminergic Polymorphic Ventricular Tachycardia (CPVT) malady

Genetic diseases, Rare diseases categories
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Summaries for Catecholaminergic Polymorphic Ventricular Tachycardia

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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 based summary: Catecholaminergic Polymorphic Ventricular Tachycardia, also known as catecholamine-induced polymorphic ventricular tachycardia, is related to long qt syndrome and arrhythmogenic right ventricular cardiomyopathy. An important gene associated with Catecholaminergic Polymorphic Ventricular Tachycardia is RYR2 (ryanodine receptor 2 (cardiac)), and among its related pathways are Netrin Signaling and Ion channel transport. The compounds 4-chloro-m-cresol and cyclic adp-ribose 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:65 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

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Catecholaminergic Polymorphic Ventricular Tachycardia, Aliases & Descriptions:

Name: Catecholaminergic Polymorphic Ventricular Tachycardia 19 42 20 22 21
Catecholamine-Induced Polymorphic Ventricular Tachycardia 19 42 21 62
Familial Polymorphic Ventricular Tachycardia 19 42 21 62
Polymorphic Catecholergic Ventricular Tachycardia 42 62
Multifocal Ventricular Premature Beats 42 62
Cpvt 19 21
Fpvt 19 21
Ventricular Tachycardia, Catecholaminergic Polymorphic, 1 62
Ventricular Tachycardia, Catecholaminergic Polymorphic 44
 
Ventricular Tachycardia, Stress-Induced Polymorphic 62
Bidirectional Tachycardia Induced by Catecholamines 21
Bidirectional Tachycardia Induced by Catecholamine 42
Stress-Induced Polymorphic Ventricular Tachycardia 42
Ventricular Tachycardia, Familial Polymorphic 44
Double Tachycardia Induced by Catecholamines 42
Malignant Paroxysmal Ventricular Tachycardia 42
Syncopal Paroxysmal Tachycardia 42
Cvpt 42


Classifications:

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


Related Diseases for Catecholaminergic Polymorphic Ventricular Tachycardia

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Diseases in the Ventricular Tachycardia, Catecholaminergic Polymorphic, 1 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, 2
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 23)
idRelated DiseaseScoreTop Affiliating Genes
1long qt syndrome31.2RYR2, ANK2, KCNJ2
2arrhythmogenic right ventricular cardiomyopathy30.5RYR1, RYR2
3malignant hyperthermia30.1CALM1, CASQ2, RYR1, RYR2
4syncope10.8
5ventricular tachycardia, catecholaminergic polymorphic, 110.7
6brugada syndrome10.6
7ryr2-related catecholaminergic polymorphic ventricular tachycardia10.5
8casq2-related catecholaminergic polymorphic ventricular tachycardia10.5
9trdn-related catecholaminergic polymorphic ventricular tachycardia10.5
10calm1-related catecholaminergic polymorphic ventricular tachycardia10.5
11ventricular tachycardia, catecholaminergic polymorphic, 210.5
12ventricular tachycardia, catecholaminergic polymorphic, 5, with or without muscle weakness10.5
13ventricular tachycardia, catecholaminergic polymorphic, 310.5
14ventricular tachycardia, catecholaminergic polymorphic, 410.5
15andersen-tawil syndrome10.4
16short qt syndrome10.4
17familial ventricular tachycardia10.4
18long qt syndrome 410.4
19congenital heart disease10.2RYR2, KCNJ2
20central core myopathy10.0RYR1, RYR2
21hypokalemic periodic paralysis9.8RYR1, KCNJ2
22dilated cardiomyopathy9.8RYR1, RYR2, CALR
23sudden cardiac death multi-gene panels9.5KCNJ2, FKBP1B, ANK2, RYR2, RYR1

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



Diseases related to catecholaminergic polymorphic ventricular tachycardia

Symptoms for Catecholaminergic Polymorphic Ventricular Tachycardia

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Drugs & Therapeutics for Catecholaminergic Polymorphic Ventricular Tachycardia

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Drug clinical trials:

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Search NIH Clinical Center for Catecholaminergic Polymorphic Ventricular Tachycardia

Genetic Tests for Catecholaminergic Polymorphic Ventricular Tachycardia

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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

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MalaCards organs/tissues related to Catecholaminergic Polymorphic Ventricular Tachycardia:

32
Heart, Testes

Animal Models for Catecholaminergic Polymorphic Ventricular Tachycardia or affiliated genes

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MGI Mouse Phenotypes related to Catecholaminergic Polymorphic Ventricular Tachycardia:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053697.2RYR1, KCNJ2, FKBP1B, ASPH, CALR, CASQ2
2MP:00107686.6FKBP1B, ASPH, ANK2, CALR, CAMP, RYR2
3MP:00053856.6KCNJ2, FKBP1B, ASPH, ANK2, CALR, CASQ2
4MP:00053766.4KCNJ2, FKBP1B, ASPH, ANK2, CALR, CASQ2

Publications for Catecholaminergic Polymorphic Ventricular Tachycardia

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Articles related to Catecholaminergic Polymorphic Ventricular Tachycardia:

(show top 50)    (show all 176)
idTitleAuthorsYear
1
Paralogue annotation identifies novel pathogenic variants in patients with Brugada syndrome and catecholaminergic polymorphic ventricular tachycardia. (24136861)
2014
2
Clinical utility gene card for: Catecholaminergic polymorphic ventricular tachycardia (CPVT). (23549275)
2014
3
Sinus node dysfunction in catecholaminergic polymorphic ventricular tachycardia: risk factor and potential therapeutic target? (25112803)
2014
4
Catecholaminergic polymorphic ventricular tachycardia in a child with Brugada pattern on ECG: One patient with two diseases? (25016147)
2014
5
A novel cardiac ryanodine receptor gene (RyR2) mutation in an athlete with aborted sudden cardiac death: a case of adult-onset catecholaminergic polymorphic ventricular tachycardia. (25092222)
2014
6
Triple mode of action of flecainide in catecholaminergic polymorphic ventricular tachycardia: reply. (23536607)
2013
7
Ca2+ signaling in human induced pluripotent stem cell-derived cardiomyocytes (iPS-CM) from normal and catecholaminergic polymorphic ventricular tachycardia (CPVT)-afflicted subjects. (23684427)
2013
8
New data on catecholaminergic polymorphic ventricular tachycardia in Japan: from the bench to the bedside. (23708865)
2013
9
Catecholaminergic polymorphic ventricular tachycardia detected by an implantable loop recorder in a child. (23917010)
2013
10
Abnormal propagation of calcium waves and ultrastructural remodeling in recessive catecholaminergic polymorphic ventricular tachycardia. (23674379)
2013
11
Catecholaminergic polymorphic ventricular tachycardia found in an adolescent after a methylenedioxymethamphetamine and marijuana-induced cardiac arrest. (22584762)
2012
12
Clinical characteristics and mutational analysis of the RyR2 gene in seven Czech families with catecholaminergic polymorphic ventricular tachycardia. (22519458)
2012
13
Flecainide and antiarrhythmic effects in a mouse model of catecholaminergic polymorphic ventricular tachycardia. (22867967)
2012
14
Effects of flecainide therapy on inappropriate shocks and arrhythmias in catecholaminergic polymorphic ventricular tachycardia. (22672791)
2012
15
Catecholaminergic polymorphic ventricular tachycardia. (23022705)
2012
16
A classic electrocardiographic manifestation of catecholaminergic polymorphic ventricular tachycardia. (21806698)
2012
17
Treatment of asymptomatic catecholaminergic polymorphic ventricular tachycardia. (22642633)
2012
18
Familial evaluation in catecholaminergic polymorphic ventricular tachycardia: disease penetrance and expression in cardiac ryanodine receptor mutation-carrying relatives. (22787013)
2012
19
Flecainide suppresses defibrillator-induced storming in catecholaminergic polymorphic ventricular tachycardia. (22553997)
2012
20
Guidelines for the diagnosis and management of Catecholaminergic Polymorphic Ventricular Tachycardia. (22119737)
2012
21
Calsequestrin mutations and catecholaminergic polymorphic ventricular tachycardia. (22421959)
2012
22
Bidirectional ventricular tachycardia: a hallmark of catecholaminergic polymorphic ventricular tachycardia. (22557844)
2012
23
Mechanism underlying catecholaminergic polymorphic ventricular tachycardia and approaches to therapy. (21872879)
2011
24
Case of undiagnosed catecholaminergic polymorphic ventricular tachycardia presenting with ventricular fibrillation after administration of succinylcholine during anesthesia for modified electroconvulsive therapy. (21682817)
2011
25
Mutation-linked defective interdomain interactions within ryanodine receptor cause aberrant CaA^a8_release leading to catecholaminergic polymorphic ventricular tachycardia. (21768539)
2011
26
Mechanism of antiarrhythmic effects of flecainide in catecholaminergic polymorphic ventricular tachycardia. (21885838)
2011
27
Biophysical and molecular characterization of a novel de novo KCNJ2 mutation associated with Andersen-Tawil syndrome and catecholaminergic polymorphic ventricular tachycardia mimicry. (21148745)
2011
28
Molecular basis of catecholaminergic polymorphic ventricular tachycardia. (19121813)
2009
29
The RYR2-encoded ryanodine receptor/calcium release channel in patients diagnosed previously with either catecholaminergic polymorphic ventricular tachycardia or genotype negative, exercise-induced long QT syndrome: a comprehensive open reading frame mutational analysis. (19926015)
2009
30
Increased Ca2+ sensitivity of the ryanodine receptor mutant RyR2R4496C underlies catecholaminergic polymorphic ventricular tachycardia. (19096022)
2009
31
Ten-year follow-up of cardiac sympathectomy in a young woman with catecholaminergic polymorphic ventricular tachycardia and an implantable cardioverter defibrillator. (19298566)
2009
32
Left cardiac sympathetic denervation for the treatment of long QT syndrome and catecholaminergic polymorphic ventricular tachycardia using video-assisted thoracic surgery. (19467503)
2009
33
Search for cardiac calcium cycling gene mutations in familial ventricular arrhythmias resembling catecholaminergic polymorphic ventricular tachycardia. (19216760)
2009
34
Catecholaminergic polymorphic ventricular tachycardia: a current overview. (19371192)
2009
35
Mechanisms and clinical management of inherited channelopathies: long QT syndrome, Brugada syndrome, catecholaminergic polymorphic ventricular tachycardia, and short QT syndrome. (19631908)
2009
36
Protein kinase A-dependent biophysical phenotype for V227F-KCNJ2 mutation in catecholaminergic polymorphic ventricular tachycardia. (19843922)
2009
37
Incidence and risk factors of arrhythmic events in catecholaminergic polymorphic ventricular tachycardia. (19398665)
2009
38
A Novel mutation of F189L in CASQ2 in families with catecholaminergic polymorphic ventricular tachycardia]. (18543230)
2008
39
Catecholaminergic polymorphic ventricular tachycardia-related mutations R33Q and L167H alter calcium sensitivity of human cardiac calsequestrin. (18399795)
2008
40
A novel early onset lethal form of catecholaminergic polymorphic ventricular tachycardia maps to chromosome 7p14-p22. (17666061)
2007
41
Unraveling the mechanisms of catecholaminergic polymorphic ventricular tachycardia. (17959506)
2006
42
Catecholaminergic polymorphic ventricular tachycardia: recent mechanistic insights. (15913575)
2005
43
Catecholaminergic polymorphic ventricular tachycardia: RYR2 mutations, bradycardia, and follow up of the patients. (16272262)
2005
44
Calcium channel antagonism reduces exercise-induced ventricular arrhythmias in catecholaminergic polymorphic ventricular tachycardia patients with RyR2 mutations. (15720454)
2005
45
Catecholaminergic polymorphic ventricular tachycardia, recurrent syncope, and implantable loop recorder. (15175074)
2004
46
Genes, exercise and sudden death: molecular basis of familial catecholaminergic polymorphic ventricular tachycardia. (15176428)
2004
47
RYR2 and CASQ2 mutations in patients suffering from catecholaminergic polymorphic ventricular tachycardia. (12551888)
2003
48
Absence of calsequestrin 2 causes severe forms of catecholaminergic polymorphic ventricular tachycardia. (12386154)
2002
49
Mutations in the cardiac ryanodine receptor gene (hRyR2) underlie catecholaminergic polymorphic ventricular tachycardia. (11208676)
2001
50
Catecholaminergic polymorphic ventricular tachycardia in children. A 7-year follow-up of 21 patients. (7867192)
1995

Variations for Catecholaminergic Polymorphic Ventricular Tachycardia

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Clinvar genetic disease variations for Catecholaminergic Polymorphic Ventricular Tachycardia:

6
id Gene Name Type Significance SNP ID Assembly Location
1RYR2NM_001035.2(RYR2): c.6737C> T (p.Ser2246Leu)single nucleotide variantPathogenicrs121918597GRCh37Chr 1, 237798237: 237798237
2RYR2NM_001035.2(RYR2): c.7422G> C (p.Arg2474Ser)single nucleotide variantPathogenicrs121918598GRCh37Chr 1, 237811823: 237811823
3RYR2NM_001035.2(RYR2): c.12312C> G (p.Asn4104Lys)single nucleotide variantPathogenicrs121918599GRCh37Chr 1, 237947324: 237947324
4RYR2NM_001035.2(RYR2): c.13489C> T (p.Arg4497Cys)single nucleotide variantPathogenicrs121918600GRCh37Chr 1, 237954741: 237954741
5RYR2NM_001035.2(RYR2): c.6982C> T (p.Pro2328Ser)single nucleotide variantPathogenicrs121918603GRCh37Chr 1, 237802368: 237802368
6RYR2NM_001035.2(RYR2): c.13957G> T (p.Val4653Phe)single nucleotide variantPathogenicrs121918604GRCh37Chr 1, 237961337: 237961337
7RYR2NM_001035.2(RYR2): c.12602A> G (p.Gln4201Arg)single nucleotide variantPathogenicrs121918605GRCh37Chr 1, 237947614: 237947614
8RYR2NM_001035.2(RYR2): c.14579C> G (p.Ala4860Gly)single nucleotide variantPathogenicrs121918606GRCh37Chr 1, 237982481: 237982481
9RYR2NM_001035.2: c.169-199_273+819del1123deletionPathogenicGRCh37Chr 1, 237493979: 237495101

Expression for genes affiliated with Catecholaminergic Polymorphic Ventricular Tachycardia

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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

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

(show all 12)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.6RYR1, RYR2
2
Show member pathways
9.2RYR1, RYR2, TRDN
3
Show member pathways
9.2CAMP, CALM1, KCNJ2
49.2CALR, RYR2, RYR1
59.0CALM1, RYR2, RYR1
6
Show member pathways
9.0RYR1, RYR2, CALM1
7
Show member pathways
9.0RYR1, RYR2, CALM1
88.9CALM1, CALR, RYR1
9
Show member pathways
8.7KCNJ2, CALM1, RYR2, RYR1
10
Show member pathways
8.7RYR1, RYR2, CALM1, KCNJ2
11
Show member pathways
Calcium Regulation in the Cardiac Cell37
8.3CALM1, CALR, CASQ2, RYR2, RYR1
128.2RYR2, CASQ2, ANK2, FKBP1B, KCNJ2

Compounds for genes affiliated with Catecholaminergic Polymorphic Ventricular Tachycardia

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

(show all 31)
idCompoundScoreTop Affiliating Genes
14-chloro-m-cresol449.9RYR1, RYR2
2cyclic adp-ribose449.9RYR1, RYR2
3procaine44 28 1111.9RYR1, RYR2
4dantrolene28 44 1111.9RYR2, RYR1
5naphthoquinone449.9RYR1, TRDN
6ruthenium red289.9RYR2, RYR1
72-mercaptoethanol449.7RYR1, TRDN
8ca2+289.7RYR1, RYR2
9ruthenium449.6TRDN, RYR2, RYR1
10mg2+289.6RYR1, RYR2, KCNJ2
11isoflurane50 44 1111.6CALM1, RYR1
12pip2449.5RYR1, KCNJ2
13spermine28 44 24 1112.4CALR, KCNJ2
14thapsigargin44 6110.4CALR, RYR2, RYR1
15carvedilol44 50 28 1112.4RYR1, RYR2, FKBP1B
16halothane44 50 28 1112.3CALR, RYR1
17tacrolimus44 50 1111.3RYR1, RYR2, FKBP1B
18phospholipid449.3CAMP, RYR2, RYR1
19potassium44 24 1111.2KCNJ2, CAMP, RYR2, RYR1
20chloride449.1CALR, CAMP, RYR2, RYR1
21caffeine44 28 2 50 24 1114.1RYR1, RYR2, TRDN, FKBP1B
22magnesium44 24 1111.1RYR1, RYR2, CALR, KCNJ2
23dihydropyridine449.1ASPH, CALR, TRDN, RYR1
24nitric oxide44 24 1111.0RYR1, RYR2, CAMP, CALR
25glutamate448.9CALR, CAMP, RYR2, RYR1
26atp44 289.8RYR1, RYR2, CAMP, CALR
27isoproterenol44 119.7KCNJ2, FKBP1B, CAMP, RYR2, RYR1
28inositol 1,4,5 trisphosphate448.7ANK2, CALR, RYR2, RYR1
29lipid448.5FKBP1B, CALR, CAMP, RYR2, RYR1
30ryanodine44 28 619.1RYR1, FKBP1B, ASPH, ANK2, CALR, CASQ2
31calcium44 50 24 118.9KCNJ2, FKBP1B, ASPH, ANK2, CALM1, CALR

GO Terms for genes affiliated with Catecholaminergic Polymorphic Ventricular Tachycardia

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

(show all 13)
idNameGO IDScoreTop Affiliating Genes
1voltage-gated calcium channel complexGO:0058919.9TRDN, CASQ2
2junctional membrane complexGO:0303149.6TRDN, RYR1
3smooth endoplasmic reticulumGO:0057909.6RYR1, KCNJ2
4sarcoplasmic reticulum lumenGO:0330189.2TRDN, CASQ2, CALR, ASPH
5intercalated discGO:0147049.2KCNJ2, ANK2
6sarcoplasmic reticulumGO:0165299.2CASQ2, TRDN, RYR2, RYR1
7T-tubuleGO:0303158.8RYR1, ANK2, KCNJ2
8calcium channel complexGO:0347048.8FKBP1B, ASPH, CASQ2, TRDN, RYR2
9junctional sarcoplasmic reticulum membraneGO:0147018.7ASPH, CASQ2, TRDN, RYR2, RYR1
10Z discGO:0300188.7FKBP1B, ANK2, CASQ2, RYR2
11intracellularGO:0056228.6CASQ2, CALR, ANK2
12sarcoplasmic reticulum membraneGO:0330178.2RYR1, RYR2, TRDN, CASQ2, ASPH, FKBP1B
13plasma membraneGO:0058867.6ASPH, ANK2, TRDN, RYR2, RYR1, KCNJ2

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

(show all 34)
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
5positive regulation of ryanodine-sensitive calcium-release channel activityGO:06031610.0ASPH, TRDN
6cell communication by electrical coupling involved in cardiac conductionGO:08606410.0FKBP1B, RYR2
7response to redox stateGO:0517759.9FKBP1B, RYR2
8protein maturation by protein foldingGO:0224179.9CALR, FKBP1B
9calcium-mediated signaling using intracellular calcium sourceGO:0355849.8FKBP1B, RYR2
10detection of calcium ionGO:0055139.8RYR2, CASQ2, ASPH
11regulation of cell communication by electrical couplingGO:0106499.8TRDN, CASQ2, ASPH
12response to caffeineGO:0310009.8RYR2, RYR1
13negative regulation of ryanodine-sensitive calcium-release channel activityGO:0603159.7TRDN, CASQ2, FKBP1B
14regulation of ryanodine-sensitive calcium-release channel activityGO:0603149.7FKBP1B, ASPH
15sarcoplasmic reticulum calcium ion transportGO:0702969.7ANK2, RYR2
16regulation of cardiac muscle cell membrane potentialGO:0860369.7ANK2, TRDN
17cellular response to caffeineGO:0713139.7CASQ2, RYR2, RYR1
18regulation of release of sequestered calcium ion into cytosolGO:0512799.6ANK2, TRDN
19regulation of cardiac muscle contractionGO:0551179.5ANK2, RYR2
20calcium ion transmembrane transportGO:0705889.5ASPH, FKBP1B
21release of sequestered calcium ion into cytosolGO:0512099.5RYR2, RYR1
22regulation of heart rateGO:0020279.4ANK2, CASQ2, RYR2
23ventricular cardiac muscle cell action potentialGO:0860059.4RYR2, ANK2
24cardiac muscle contractionGO:0600489.4ANK2, CASQ2, RYR2
25cytosolic calcium ion homeostasisGO:0514809.4RYR1, RYR2, FKBP1B
26muscle contractionGO:0069369.4ASPH, TRDN, RYR1
27regulation of heart rate by cardiac conductionGO:0860919.3ANK2, KCNJ2
28ion transmembrane transportGO:0342209.3RYR1, RYR2, TRDN, CASQ2
29regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulumGO:0108809.3FKBP1B, ASPH, CASQ2, TRDN
30release of sequestered calcium ion into cytosol by sarcoplasmic reticulumGO:0148089.1FKBP1B, TRDN, RYR2, RYR1
31transmembrane transportGO:0550859.1CASQ2, TRDN, RYR2, RYR1
32cellular calcium ion homeostasisGO:0068749.0ANK2, CALR, TRDN, RYR2
33regulation of protein stabilityGO:0316478.9ANK2, ASPH
34regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ionGO:0108818.5RYR2, CASQ2, ANK2, ASPH, FKBP1B

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

(show all 7)
idNameGO IDScoreTop Affiliating Genes
1calcium channel activityGO:0052629.6RYR1, RYR2
2calcium-release channel activityGO:0152789.5RYR2, RYR1
3ryanodine-sensitive calcium-release channel activityGO:0052199.2FKBP1B, RYR2, RYR1
4protein binding, bridgingGO:0306749.0TRDN, ANK2
5calcium ion bindingGO:0055098.5ASPH, CALR, CASQ2, RYR2, RYR1
6ion channel bindingGO:0443258.2RYR2, TRDN, ANK2, ASPH, FKBP1B
7protein bindingGO:0055156.4FKBP1B, ASPH, ANK2, CALR, CAMP, CASQ2

Products for genes affiliated with Catecholaminergic Polymorphic Ventricular Tachycardia

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Sources for Catecholaminergic Polymorphic Ventricular Tachycardia

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3CDC
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14FMA
22GTR
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25ICD10
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27ICD9CM
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