MCID: CTC001
MIFTS: 58

Catecholaminergic Polymorphic Ventricular Tachycardia malady

Categories: Genetic diseases, Rare diseases, Cardiovascular diseases

Aliases & Classifications for Catecholaminergic Polymorphic Ventricular Tachycardia

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Sources:
65UMLS, 21GeneReviews, 45NIH Rare Diseases, 22GeneTests, 23Genetics Home Reference, 51Orphanet, 47Novoseek, 24GTR, 28ICD10 via Orphanet
See all MalaCards sources

Aliases & Descriptions for Catecholaminergic Polymorphic Ventricular Tachycardia:

Name: Catecholaminergic Polymorphic Ventricular Tachycardia 21 45 22 23 51
Catecholamine-Induced Polymorphic Ventricular Tachycardia 21 45 22 23
Familial Polymorphic Ventricular Tachycardia 21 45 22 23
Cpvt 21 23 51
Ventricular Tachycardia, Catecholaminergic Polymorphic 47 24
Bidirectional Tachycardia Induced by Catecholamine 45 51
Stress-Induced Polymorphic Ventricular Tachycardia 45 65
Double Tachycardia Induced by Catecholamines 45 51
Malignant Paroxysmal Ventricular Tachycardia 45 51
Multifocal Ventricular Premature Beats 45 51
 
Fpvt 21 23
Ventricular Tachycardia, Catecholaminergic Polymorphic, 1 65
Bidirectional Tachycardia Induced by Catecholamines 23
Polymorphic Catecholergic Ventricular Tachycardia 45
Ventricular Tachycardia, Familial Polymorphic 47
Multifocal Premature Ventricular Beats 65
Familial Ventricular Tachycardia 65
Syncopal Paroxysmal Tachycardia 45
Multifocal Pvcs 65
Cvpt 45

Characteristics:

Orphanet epidemiological data:

51
catecholaminergic polymorphic ventricular tachycardia:
Inheritance: Autosomal dominant,Autosomal recessive; Prevalence: 1-5/10000 (Europe); Age of onset: Childhood; Age of death: any age

Classifications:



External Ids:

Orphanet51 3286
ICD10 via Orphanet28 I47.2
UMLS65 C1631597, C0340485, C0264903 C1735340, C2677794, more

Summaries for Catecholaminergic Polymorphic Ventricular Tachycardia

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NIH Rare Diseases:45 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. symptoms most often develop between 7 to 9 years of age.  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. beta blockers are used to treat cpvt.  an implantable cardioverter defibrillator (icd) may also be needed.  last updated: 1/25/2013

MalaCards based summary: Catecholaminergic Polymorphic Ventricular Tachycardia, also known as catecholamine-induced polymorphic ventricular tachycardia, is related to ventricular tachycardia, catecholaminergic polymorphic, 1 and calm1-related catecholaminergic polymorphic ventricular tachycardia, and has symptoms including vertigo, sudden cardiac death and cardiac rhythm disorder/arrhythmia. An important gene associated with Catecholaminergic Polymorphic Ventricular Tachycardia is RYR2 (Ryanodine Receptor 2), and among its related pathways are Endothelin and G13 Signaling Pathway. Affiliated tissues include heart, prostate and breast, and related mouse phenotypes are cardiovascular system and muscle.

Genetics Home Reference:23 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:68 Catecholaminergic polymorphic ventricular tachycardia (CPVT), also called familial polymorphic... more...

GeneReviews summary for NBK1289

Related Diseases for Catecholaminergic Polymorphic Ventricular Tachycardia

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Diseases in the Catecholaminergic Polymorphic Ventricular Tachycardia family:

Ventricular Tachycardia, Catecholaminergic Polymorphic, 2 Ventricular Tachycardia, Catecholaminergic Polymorphic, 1
Ventricular Tachycardia, Catecholaminergic Polymorphic, 3 Ventricular Tachycardia, Catecholaminergic Polymorphic, 4
Calm1-Related Catecholaminergic Polymorphic Ventricular Tachycardia Casq2-Related Catecholaminergic Polymorphic Ventricular Tachycardia
Ryr2-Related Catecholaminergic Polymorphic Ventricular Tachycardia Trdn-Related Catecholaminergic Polymorphic Ventricular Tachycardia

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

(show top 50)    (show all 58)
idRelated DiseaseScoreTop Affiliating Genes
1ventricular tachycardia, catecholaminergic polymorphic, 130.0ANK2, CALM1, DSG2, RYR2
2calm1-related catecholaminergic polymorphic ventricular tachycardia12.4
3casq2-related catecholaminergic polymorphic ventricular tachycardia12.4
4ryr2-related catecholaminergic polymorphic ventricular tachycardia12.4
5trdn-related catecholaminergic polymorphic ventricular tachycardia12.4
6ventricular tachycardia, catecholaminergic polymorphic, 411.5
7phlegmonous dacryocystitis10.6CALM1, CALM2
8laryngotracheitis10.6CALM1, CALM2
9pleural empyema10.6CALM1, CALM2
10long qt syndrome10.5
11bacterial meningitis10.5CALM1, CALM2
12pseudohypoaldosteronism, type iic10.5CALM1, CALM2
13syncope10.5
14leukocoria10.5CALM1, CALM2
15ureteral lymphoma10.5CALM1, CALM2
16exostosis10.5CALM1, CALM2
17cardiac arrest10.4
18prostate lymphoma10.4KCNJ2, RYR1
19endocardium disease10.4RYR2, TRDN
20myasthenia gravis10.4RYR1, RYR2
21atrial fibrillation10.4
22cardiac arrhythmia, ankyrin-b-related10.4
23brugada syndrome10.3
24primary angle-closure glaucoma10.3CALM1, CALM2
25chronic wasting disease10.3RYR1, RYR2, TRDN
26keratosis palmoplantaris striata10.3KCNH2, KCNJ2
27spoan syndrome10.3FKBP1B, RYR2, TRDN
28hypokalemic periodic paralysis, type 110.2KCNJ2, RYR1, TRDN
29aniseikonia10.2CALM1, CALM2
30cardiomyopathy10.2
31sudden cardiac death10.2
32staphyloenterotoxemia10.1CALM1, CALM2
33pyoderma gangrenosum10.1CALR, RYR1, RYR2
34bleeding disorder, platelet-type, 1510.1CALM1, CALM2, CALM3
35long qt syndrome 1510.1CALM1, CALM2, CALM3
36familial isolated arrhythmogenic ventricular dysplasia, left dominant form10.1DSG2, RYR2
37frontotemporal dementia, right temporal atrophy variant10.1DSG2, RYR2
38mitf-related melanoma and renal cell carcinoma predisposition syndrome10.1DSG2, RYR2
39arrhythmogenic right ventricular cardiomyopathy10.1
40short qt syndrome10.1
41left ventricular noncompaction10.1
42malignant hyperthermia10.1
43prostate squamous cell carcinoma10.0KCNH2, RYR2, TRDN
44hypertrichosis terminalis, generalized, with or without gingival hyperplasia10.0KCNH2, KCNJ2, TRDN
45multiple synostoses syndrome10.0KCNH2, KCNJ2, TRDN
46duodenal ulcer10.0CALM1, CALM2
47immunoglobulin a vasculitis9.9ANK2, KCNH2, KCNJ2
48stormorken syndrome9.9CALR, CASQ2, RYR1, TRDN
49specific developmental disorder9.8DSG2, RYR2, TRDN
50sudden infant death syndrome9.7KCNH2, KCNJ2, RYR2

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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Symptoms:

 51
  • cardiac rhythm disorder/arrhythmia
  • dizziness
  • collapse/sudden death/cardiac arrest/cardiorespiratory arrest

HPO human phenotypes related to Catecholaminergic Polymorphic Ventricular Tachycardia:

id Description Frequency HPO Source Accession
1 vertigo typical (50%) HP:0002321
2 sudden cardiac death occasional (7.5%) HP:0001645

UMLS symptoms related to Catecholaminergic Polymorphic Ventricular Tachycardia:


syncope, seizures

Drugs & Therapeutics for Catecholaminergic Polymorphic Ventricular Tachycardia

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Drugs for Catecholaminergic Polymorphic Ventricular Tachycardia (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1Sodium Channel Blockers1180
2Diuretics, Potassium Sparing1445
3Anti-Arrhythmia Agents2371

Interventional clinical trials:

idNameStatusNCT IDPhase
1Flecainide for Catecholaminergic Polymorphic Ventricular TachycardiaCompletedNCT01117454
2Derivation of Human Induced Pluripotent Stem (iPS) Cells to Heritable Cardiac ArrhythmiasEnrolling by invitationNCT02413450

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 Tachycardia22 TRDN

Anatomical Context for Catecholaminergic Polymorphic Ventricular Tachycardia

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MalaCards organs/tissues related to Catecholaminergic Polymorphic Ventricular Tachycardia:

33
Heart, Prostate, Breast, Liver, Lung, Testes, T cells

Animal Models for Catecholaminergic Polymorphic Ventricular Tachycardia or affiliated genes

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MGI Mouse Phenotypes related to Catecholaminergic Polymorphic Ventricular Tachycardia:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053856.8ASPH, CALR, CASQ2, FKBP1B, KCNH2, KCNJ2
2MP:00053696.2ASPH, CALR, CASQ2, FKBP1B, KCNH2, KCNJ2

Publications for Catecholaminergic Polymorphic Ventricular Tachycardia

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Articles related to Catecholaminergic Polymorphic Ventricular Tachycardia:

(show top 50)    (show all 223)
idTitleAuthorsYear
1
Clinical Challenges in Catecholaminergic Polymorphic Ventricular Tachycardia. (26948768)
2016
2
Catecholaminergic polymorphic ventricular tachycardia: disease with different faces. (26082524)
2015
3
Exon 3 deletion of ryanodine receptor causes left ventricular noncompaction, worsening catecholaminergic polymorphic ventricular tachycardia, and sudden cardiac arrest. (26018045)
2015
4
Sudden Cardiac Arrest During Sex in Patients with Either Catecholaminergic Polymorphic Ventricular Tachycardia or Long-QT Syndrome: A Rare But Shocking Experience. (25514987)
2015
5
Gender Differences in the Inheritance Mode of RYR2 Mutations in Catecholaminergic Polymorphic Ventricular Tachycardia Patients. (26114861)
2015
6
Thoracoscopic Left Cardiac Sympathetic Denervation for a Patient with Catecholaminergic Polymorphic Ventricular Tachycardia and Recurrent Implantable Cardioverter-Defibrillator Shocks. (26078933)
2015
7
Sensitivity and negative predictive value of treadmill exercise stress testing for the diagnosis of catecholaminergic polymorphic ventricular tachycardia. Response. (25936659)
2015
8
Paralogue annotation identifies novel pathogenic variants in patients with Brugada syndrome and catecholaminergic polymorphic ventricular tachycardia. (24136861)
2014
9
Clinical utility gene card for: Catecholaminergic polymorphic ventricular tachycardia (CPVT). (23549275)
2014
10
Sinus node dysfunction in catecholaminergic polymorphic ventricular tachycardia: risk factor and potential therapeutic target? (25112803)
2014
11
Catecholaminergic polymorphic ventricular tachycardia in a child with Brugada pattern on ECG: One patient with two diseases? (25016147)
2014
12
Triple mode of action of flecainide in catecholaminergic polymorphic ventricular tachycardia: reply. (23536607)
2013
13
Ca2+ signaling in human induced pluripotent stem cell-derived cardiomyocytes (iPS-CM) from normal and catecholaminergic polymorphic ventricular tachycardia (CPVT)-afflicted subjects. (23684427)
2013
14
New data on catecholaminergic polymorphic ventricular tachycardia in Japan: from the bench to the bedside. (23708865)
2013
15
Catecholaminergic polymorphic ventricular tachycardia detected by an implantable loop recorder in a child. (23917010)
2013
16
Catecholaminergic polymorphic ventricular tachycardia found in an adolescent after a methylenedioxymethamphetamine and marijuana-induced cardiac arrest. (22584762)
2012
17
Clinical characteristics and mutational analysis of the RyR2 gene in seven Czech families with catecholaminergic polymorphic ventricular tachycardia. (22519458)
2012
18
Flecainide and antiarrhythmic effects in a mouse model of catecholaminergic polymorphic ventricular tachycardia. (22867967)
2012
19
Effects of flecainide therapy on inappropriate shocks and arrhythmias in catecholaminergic polymorphic ventricular tachycardia. (22672791)
2012
20
Catecholaminergic polymorphic ventricular tachycardia. (23022705)
2012
21
A classic electrocardiographic manifestation of catecholaminergic polymorphic ventricular tachycardia. (21806698)
2012
22
Treatment of asymptomatic catecholaminergic polymorphic ventricular tachycardia. (22642633)
2012
23
Familial evaluation in catecholaminergic polymorphic ventricular tachycardia: disease penetrance and expression in cardiac ryanodine receptor mutation-carrying relatives. (22787013)
2012
24
Mechanism underlying catecholaminergic polymorphic ventricular tachycardia and approaches to therapy. (21872879)
2011
25
Case of undiagnosed catecholaminergic polymorphic ventricular tachycardia presenting with ventricular fibrillation after administration of succinylcholine during anesthesia for modified electroconvulsive therapy. (21682817)
2011
26
Mutation-linked defective interdomain interactions within ryanodine receptor cause aberrant CaA^a8_release leading to catecholaminergic polymorphic ventricular tachycardia. (21768539)
2011
27
Mechanism of antiarrhythmic effects of flecainide in catecholaminergic polymorphic ventricular tachycardia. (21885838)
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
The long QT syndrome and catecholaminergic polymorphic ventricular tachycardia. (19602163)
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
Catecholaminergic polymorphic ventricular tachycardia, recurrent syncope, and implantable loop recorder. (15175074)
2004
45
Genes, exercise and sudden death: molecular basis of familial catecholaminergic polymorphic ventricular tachycardia. (15176428)
2004
46
RYR2 and CASQ2 mutations in patients suffering from catecholaminergic polymorphic ventricular tachycardia. (12551888)
2003
47
Absence of calsequestrin 2 causes severe forms of catecholaminergic polymorphic ventricular tachycardia. (12386154)
2002
48
Catecholaminergic polymorphic ventricular tachycardia in children. A 7-year follow-up of 21 patients. (7867192)
1995
49
50

Variations for Catecholaminergic Polymorphic Ventricular Tachycardia

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Clinvar genetic disease variations for Catecholaminergic Polymorphic Ventricular Tachycardia:

5
id Gene Variation 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.1298T> C (p.Leu433Pro)single nucleotide variantPathogenicrs121918602GRCh37Chr 1, 237617696: 237617696
3DSG2NM_001943.3(DSG2): c.166G> A (p.Val56Met)single nucleotide variantPathogenic, risk factorrs121913013GRCh37Chr 18, 29099850: 29099850
4RYR2NM_001035.2(RYR2): c.527G> A (p.Arg176Gln)single nucleotide variantPathogenicrs794728708GRCh38Chr 1, 237377386: 237377386
5RYR2NM_001035.2(RYR2): c.7202G> A (p.Arg2401His)single nucleotide variantLikely pathogenic, Pathogenicrs794728756GRCh38Chr 1, 237640983: 237640983
6CALM1NM_006888.4(CALM1): c.161A> T (p.Asn54Ile)single nucleotide variantLikely pathogenic, Pathogenicrs267607276GRCh37Chr 14, 90867729: 90867729
7CALM1NM_006888.4(CALM1): c.293A> G (p.Asn98Ser)single nucleotide variantLikely pathogenic, Pathogenicrs267607277GRCh37Chr 14, 90870730: 90870730
8RYR2NM_001035.2(RYR2): c.506G> A (p.Arg169Gln)single nucleotide variantLikely pathogenic, Pathogenicrs397516539GRCh37Chr 1, 237540665: 237540665

Expression for genes affiliated with Catecholaminergic Polymorphic Ventricular Tachycardia

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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 Suite gene sharing:

(show top 50)    (show all 59)
idSuper pathwaysScoreTop Affiliating Genes
19.5CALM1, CALM2, CALM3
29.5CALM1, CALM2, CALM3
3
Show member pathways
9.5CALM1, CALM2, CALM3
49.5CALM1, CALM2, CALM3
59.5CALM1, CALM2, CALM3
69.5CALM1, CALM2, CALM3
79.5CALM1, CALM2, CALM3
8
Show member pathways
9.5CALM1, CALM2, CALM3
99.5CALM1, CALM2, CALM3
109.5CALM1, CALM2, CALM3
11
Show member pathways
9.5CALM1, CALM2, CALM3
12
Show member pathways
9.5CALM1, CALM2, CALM3
139.5CALM1, CALM2, CALM3
149.5CALM1, CALM2, CALM3
159.5CALM1, CALM2, CALM3
16
Show member pathways
9.5CALM1, CALM2, CALM3
179.5CALM1, CALM2, CALM3
189.5CALM1, CALM2, CALM3
199.5CALM1, CALM2, CALM3
20
Show member pathways
9.5CALM1, CALM2, CALM3
21
Show member pathways
9.5CALM1, CALM2, CALM3
229.5CALM1, CALM2, CALM3
23
Show member pathways
9.5CALM1, CALM2, CALM3
249.5CALM1, CALM2, CALM3
259.5CALM1, CALM2, CALM3
269.5CALM1, CALM2, CALM3
279.5CALM1, CALM2, CALM3
289.5CALM1, CALM2, CALM3
29
Show member pathways
9.5CALM1, CALM2, CALM3
309.5CALM1, CALM2, CALM3
319.5CALM1, CALM2, CALM3
32
Show member pathways
9.5CALM1, CALM2, CALM3
33
Show member pathways
9.2CALM1, CALM2, CALM3, RYR2
34
Show member pathways
9.2CALM1, CALM2, CALM3, RYR2
35
Show member pathways
9.2CALM1, CALM2, CALM3, RYR2
36
Show member pathways
9.1CALM1, CALM2, CALM3, KCNJ2
379.1CALM1, CALM2, CALM3, KCNJ2
38
Show member pathways
9.1CALM1, CALM2, CALM3, RYR1
39
Show member pathways
8.9CALM1, CALM2, CALM3, RYR1, RYR2
408.9CALM1, CALM2, CALM3, RYR1, RYR2
41
Show member pathways
8.8CALM1, CALM2, CALM3, CALR
42
Show member pathways
8.6CALM1, CALM2, CALM3, KCNH2, KCNJ2
438.6CALM1, CALM2, CALM3, KCNH2, KCNJ2
44
Show member pathways
8.5CALM1, CALM2, CALM3, KCNJ2, RYR1, RYR2
45
Show member pathways
8.5CALM1, CALM2, CALM3, KCNJ2, RYR1, RYR2
468.2ANK2, CASQ2, FKBP1B, KCNH2, KCNJ2, RYR2
47
Show member pathways
8.0CALM1, CALM2, CALM3, CALR, CASQ2, RYR1
48
Show member pathways
7.3ASPH, CALM1, CALM2, CALM3, FKBP1B, RYR1
49
Show member pathways
7.3ASPH, CALM1, CALM2, CALM3, FKBP1B, RYR1
50
Show member pathways
6.4ASPH, CALM1, CALM2, CALM3, FKBP1B, KCNH2

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 Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1sarcoplasmic reticulum membraneGO:003301710.2CASQ2, RYR1
2cellGO:000562310.2RYR1, RYR2
3T-tubuleGO:003031510.1ANK2, RYR1
4vesicleGO:00319829.8CALM1, CALM2, CALM3
5intercalated discGO:00147049.7ANK2, DSG2, KCNJ2
6plasma membraneGO:00058868.5CALM1, CALM3, DSG2, KCNH2, KCNJ2

Biological processes related to Catecholaminergic Polymorphic Ventricular Tachycardia according to GeneCards Suite gene sharing:

(show all 50)
idNameGO IDScoreTop Affiliating Genes
1regulation of cardiac muscle contraction by calcium ion signalingGO:001088210.5ANK2, RYR2
2regulation of cytosolic calcium ion concentrationGO:005148010.4RYR1, RYR2
3positive regulation of sequestering of calcium ionGO:005128410.4FKBP1B, RYR2
4positive regulation of protein autophosphorylationGO:003195410.4CALM1, CALM2
5regulation of cardiac muscle cell contractionGO:008600410.3ANK2, KCNJ2
6cellular response to caffeineGO:007131310.3CASQ2, RYR2
7positive regulation of potassium ion transmembrane transportGO:190138110.3KCNH2, KCNJ2
8regulation of membrane repolarizationGO:006030610.3KCNH2, KCNJ2
9sarcoplasmic reticulum calcium ion transportGO:007029610.2ANK2, RYR2
10regulation of ventricular cardiac muscle cell membrane repolarizationGO:006030710.2ANK2, KCNH2
11release of sequestered calcium ion into cytosol by sarcoplasmic reticulumGO:001480810.2RYR1, RYR2, TRDN
12regulation of heart rateGO:000202710.1CASQ2, FKBP1B
13ventricular cardiac muscle cell action potentialGO:008600510.0ANK2, KCNH2, RYR2
14positive regulation of phosphoprotein phosphatase activityGO:003251610.0CALM1, CALM2, CALM3
15regulation of high voltage-gated calcium channel activityGO:190184110.0CALM1, CALM2, CALM3
16protein maturation by protein foldingGO:00224179.9CALR, FKBP1B
17activation of phospholipase C activityGO:00072029.9CALM1, CALM2, CALM3
18rhodopsin mediated signaling pathwayGO:00160569.9CALM1, CALM2, CALM3
19positive regulation of protein dephosphorylationGO:00353079.9CALM1, CALM2, CALM3
20negative regulation of peptidyl-threonine phosphorylationGO:00108019.9CALM1, CALM2, CALM3
21positive regulation of peptidyl-threonine phosphorylationGO:00108009.9CALM1, CALM2, CALM3
22positive regulation of cyclic-nucleotide phosphodiesterase activityGO:00513439.9CALM1, CALM2, CALM3
23platelet degranulationGO:00025769.9CALM1, CALM2, CALM3
24inositol phosphate metabolic processGO:00436479.9CALM1, CALM2, CALM3
25nitric oxide metabolic processGO:00462099.9CALM1, CALM2, CALM3
26response to calcium ionGO:00515929.9CALM1, CALM2, CALM3
27glycogen catabolic processGO:00059809.8CALM1, CALM2, CALM3
28release of sequestered calcium ion into cytosolGO:00512099.8FKBP1B, RYR1, RYR2
29platelet activationGO:00301689.8CALM1, CALM2, CALM3
30regulation of cell communication by electrical coupling involved in cardiac conductionGO:19018449.8CALM1, CALM2, CALM3
31phosphorylationGO:00163109.7CALM1, CALM2, CALM3
32regulation of cytokinesisGO:00324659.7CALM1, CALM2, CALM3
33phototransduction, visible lightGO:00076039.7CALM1, CALM2, CALM3
34MAPK cascadeGO:00001659.7CALM1, CALM2, CALM3
35membrane organizationGO:00610249.7CALM1, CALM2, CALM3
36calcium-mediated signalingGO:00197229.7CALM1, CALM2, RYR2
37regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ionGO:00108819.7ANK2, CASQ2, FKBP1B
38regulation of heart rate by cardiac conductionGO:00860919.6ANK2, DSG2, KCNH2
39synaptic transmissionGO:00072689.6CALM1, CALM2, CALM3
40negative regulation of ryanodine-sensitive calcium-release channel activityGO:00603159.6CALM1, CALM2, CALM3, CASQ2
41positive regulation of protein serine/threonine kinase activityGO:00719029.6CALM1, CALM2, CALM3
42regulation of cell communication by electrical couplingGO:00106499.6ASPH, CASQ2, TRDN
43Fc-epsilon receptor signaling pathwayGO:00380959.5CALM1, CALM2, CALM3
44glucose metabolic processGO:00060069.5CALM1, CALM2, CALM3
45regulation of cardiac conductionGO:19037799.4FKBP1B, RYR2, TRDN
46regulation of cardiac muscle contractionGO:00551179.3ANK2, CALM1, CALM2, CALM3, RYR2
47axon guidanceGO:00074119.2ANK2, CALM1, CALM2, CALM3
48response to amphetamineGO:00019759.2CALM1, CALM2, CALM3
49muscle contractionGO:00069368.5ASPH, CALM1, CALM2, CALM3, RYR1, TRDN
50regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulumGO:00108808.5ASPH, CALM1, CALM2, CALM3, CASQ2, TRDN

Molecular functions related to Catecholaminergic Polymorphic Ventricular Tachycardia according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1calcium channel activityGO:000526210.2RYR1, RYR2
2ryanodine-sensitive calcium-release channel activityGO:000521910.0FKBP1B, RYR1
3type 3 metabotropic glutamate receptor bindingGO:00318009.6CALM1, CALM2
4Ras guanyl-nucleotide exchange factor activityGO:00050889.5CALM1, CALM2, CALM3
5calcium-dependent protein bindingGO:00483069.4CALM1, CALM2, CALM3

Sources for Catecholaminergic Polymorphic Ventricular Tachycardia

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
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29ICD9CM
30IUPHAR
31KEGG
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38MGI
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64Tumor Gene Family of Databases
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66UMLS via Orphanet