MCID: CTC001
MIFTS: 52

Catecholaminergic Polymorphic Ventricular Tachycardia malady

Genetic diseases, Rare diseases, Cardiovascular diseases categories

Aliases & Classifications for Catecholaminergic Polymorphic Ventricular Tachycardia

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Sources:
21GeneReviews, 45NIH Rare Diseases, 22GeneTests, 23Genetics Home Reference, 47Novoseek, 51Orphanet, 24GTR, 65UMLS, 28ICD10 via Orphanet
See all 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
Syncopal Paroxysmal Tachycardia 45 51
Bidirectional Tachycardia 51 65
 
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
Paroxysmal Familial Ventricular Fibrillation 65
Paroxysmal Ventricular Fibrillation 51
Familial Ventricular Tachycardia 65
Syncopal Tachyarythmia 51
Multifocal Pvcs 65
Cvpt 45


Classifications:



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


External Ids:

Orphanet51 3286
ICD10 via Orphanet28 I47.2

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 long qt syndrome, and has symptoms including vertigo, sudden cardiac death and cardiac rhythm disorder/arrhythmia. An important gene associated with Catecholaminergic Polymorphic Ventricular Tachycardia is TRDN (Triadin), and among its related pathways are Endochondral Ossification and Uptake and actions of bacterial toxins. Affiliated tissues include heart and testes, and related mouse phenotypes are homeostasis/metabolism 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) is a rhythm disorder of the ventricles of... more...

GeneReviews summary for cvt

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 65)
idRelated DiseaseScoreTop Affiliating Genes
1ventricular tachycardia, catecholaminergic polymorphic, 130.4ANK2, CALM1, DSG2, LMNA, RYR2
2long qt syndrome10.9
3syncope10.8
4ventricular tachycardia, catecholaminergic polymorphic, 5, with or without muscle weakness10.8
5ventricular tachycardia, catecholaminergic polymorphic, 310.7
6cardiac arrest10.7
7atrial fibrillation10.7
8brugada syndrome10.6
9calm1-related catecholaminergic polymorphic ventricular tachycardia10.6
10casq2-related catecholaminergic polymorphic ventricular tachycardia10.6
11ryr2-related catecholaminergic polymorphic ventricular tachycardia10.6
12trdn-related catecholaminergic polymorphic ventricular tachycardia10.6
13cardiomyopathy10.6
14sudden cardiac death10.6
15cardiac arrhythmia, ankyrin-b-related10.4
16single ventricular heart10.4
17arrhythmogenic right ventricular cardiomyopathy10.4
18malignant hyperthermia10.4
19short qt syndrome10.4
20bidirectional tachycardia10.4
21left ventricular noncompaction10.4
22paroxysmal ventricular fibrillation10.4
23ventricular fibrillation, familial, 110.4
24ventricular fibrillation, paroxysmal familial, 210.4
25nephrosclerosis10.2CALM1, CALM2
26idiopathic ventricular fibrillation, not brugada type10.2
27otosalpingitis10.2CALM1, CALM2
28otomycosis10.2CALM1, CALM2
29ventricular tachycardia, catecholaminergic polymorphic, 210.2
30ventricular tachycardia, catecholaminergic polymorphic, 410.2
31pulmonary embolism10.2
32chorea gravidarum10.1CALM1, CALM2
33scrub typhus10.1RYR1, RYR2, TRDN
34mycotic corneal ulcer10.1CALM1, CALM2
35giant cell tumor10.1CALM1, CALM2
36keratosis palmoplantaris striata10.1KCNH2, KCNJ2
37hypokalemic periodic paralysis, type 110.1KCNJ2, RYR1, TRDN
38hypertrichosis terminalis, generalized, with or without gingival hyperplasia10.1KCNH2, KCNJ2, TRDN
39long qt syndrome 1410.1CALM1, CALM2, CALM3
40bleeding disorder, platelet-type, 1510.1CALM1, CALM2, CALM3
41long qt syndrome 1510.1CALM1, CALM2, CALM3
42psammomatous meningioma10.0ASPH, CALR, RYR1, RYR2
43familial dupuytren contracture10.0LMNA, SCN5A
44atrial heart septal defect9.9ANK2, KCNJ2, RYR2, SCN5A
45left-sided gallbladder9.9LMNA, RYR2, SCN5A
46heart lipoma9.9KCNH2, KCNJ2, SCN5A
47familial isolated arrhythmogenic ventricular dysplasia, left dominant form9.9DSG2, LMNA, RYR2
48right temporal lobar atrophy9.9DSG2, LMNA, RYR2
49mitf-related melanoma and renal cell carcinoma predisposition syndrome9.9DSG2, LMNA, RYR2
50opitz-gbbb syndrome9.8KCNH2, KCNJ2, SCN5A, TRDN

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

Drugs & Therapeutics for Catecholaminergic Polymorphic Ventricular Tachycardia

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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 24 TRDN

Anatomical Context for Catecholaminergic Polymorphic Ventricular Tachycardia

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MalaCards organs/tissues related to Catecholaminergic Polymorphic Ventricular Tachycardia:

33
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:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053765.9ANK2, ASPH, ATP2A2, CALR, CASQ2, FKBP1B
2MP:00053695.7ASPH, ATP2A2, CALR, CASQ2, FKBP1B, KCNH2
3MP:00053855.6ANK2, ASPH, ATP2A2, CALR, CASQ2, FKBP1B
4MP:00107685.3ANK2, ASPH, ATP2A2, CALR, DSG2, FKBP1B

Publications for Catecholaminergic Polymorphic Ventricular Tachycardia

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Articles related to Catecholaminergic Polymorphic Ventricular Tachycardia:

(show top 50)    (show all 205)
idTitleAuthorsYear
1
Catecholaminergic polymorphic ventricular tachycardia: disease with different faces. (26082524)
2015
2
Exon 3 deletion of ryanodine receptor causes left ventricular noncompaction, worsening catecholaminergic polymorphic ventricular tachycardia, and sudden cardiac arrest. (26018045)
2015
3
Sudden Cardiac Arrest During Sex in Patients with Either Catecholaminergic Polymorphic Ventricular Tachycardia or Long-QT Syndrome: A Rare But Shocking Experience. (25514987)
2015
4
Gender Differences in the Inheritance Mode of RYR2 Mutations in Catecholaminergic Polymorphic Ventricular Tachycardia Patients. (26114861)
2015
5
Thoracoscopic Left Cardiac Sympathetic Denervation for a Patient with Catecholaminergic Polymorphic Ventricular Tachycardia and Recurrent Implantable Cardioverter-Defibrillator Shocks. (26078933)
2015
6
Sensitivity and negative predictive value of treadmill exercise stress testing for the diagnosis of catecholaminergic polymorphic ventricular tachycardia. Response. (25936659)
2015
7
Paralogue annotation identifies novel pathogenic variants in patients with Brugada syndrome and catecholaminergic polymorphic ventricular tachycardia. (24136861)
2014
8
Clinical utility gene card for: Catecholaminergic polymorphic ventricular tachycardia (CPVT). (23549275)
2014
9
Sinus node dysfunction in catecholaminergic polymorphic ventricular tachycardia: risk factor and potential therapeutic target? (25112803)
2014
10
Catecholaminergic polymorphic ventricular tachycardia in a child with Brugada pattern on ECG: One patient with two diseases? (25016147)
2014
11
Triple mode of action of flecainide in catecholaminergic polymorphic ventricular tachycardia: reply. (23536607)
2013
12
Ca2+ signaling in human induced pluripotent stem cell-derived cardiomyocytes (iPS-CM) from normal and catecholaminergic polymorphic ventricular tachycardia (CPVT)-afflicted subjects. (23684427)
2013
13
New data on catecholaminergic polymorphic ventricular tachycardia in Japan: from the bench to the bedside. (23708865)
2013
14
Catecholaminergic polymorphic ventricular tachycardia detected by an implantable loop recorder in a child. (23917010)
2013
15
Catecholaminergic polymorphic ventricular tachycardia found in an adolescent after a methylenedioxymethamphetamine and marijuana-induced cardiac arrest. (22584762)
2012
16
Clinical characteristics and mutational analysis of the RyR2 gene in seven Czech families with catecholaminergic polymorphic ventricular tachycardia. (22519458)
2012
17
Flecainide and antiarrhythmic effects in a mouse model of catecholaminergic polymorphic ventricular tachycardia. (22867967)
2012
18
Effects of flecainide therapy on inappropriate shocks and arrhythmias in catecholaminergic polymorphic ventricular tachycardia. (22672791)
2012
19
Catecholaminergic polymorphic ventricular tachycardia. (23022705)
2012
20
A classic electrocardiographic manifestation of catecholaminergic polymorphic ventricular tachycardia. (21806698)
2012
21
Treatment of asymptomatic catecholaminergic polymorphic ventricular tachycardia. (22642633)
2012
22
Familial evaluation in catecholaminergic polymorphic ventricular tachycardia: disease penetrance and expression in cardiac ryanodine receptor mutation-carrying relatives. (22787013)
2012
23
Flecainide suppresses defibrillator-induced storming in catecholaminergic polymorphic ventricular tachycardia. (22553997)
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
Biophysical and molecular characterization of a novel de novo KCNJ2 mutation associated with Andersen-Tawil syndrome and catecholaminergic polymorphic ventricular tachycardia mimicry. (21148745)
2011
29
Molecular basis of catecholaminergic polymorphic ventricular tachycardia. (19121813)
2009
30
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
31
Increased Ca2+ sensitivity of the ryanodine receptor mutant RyR2R4496C underlies catecholaminergic polymorphic ventricular tachycardia. (19096022)
2009
32
Ten-year follow-up of cardiac sympathectomy in a young woman with catecholaminergic polymorphic ventricular tachycardia and an implantable cardioverter defibrillator. (19298566)
2009
33
Left cardiac sympathetic denervation for the treatment of long QT syndrome and catecholaminergic polymorphic ventricular tachycardia using video-assisted thoracic surgery. (19467503)
2009
34
Search for cardiac calcium cycling gene mutations in familial ventricular arrhythmias resembling catecholaminergic polymorphic ventricular tachycardia. (19216760)
2009
35
Catecholaminergic polymorphic ventricular tachycardia: a current overview. (19371192)
2009
36
Mechanisms and clinical management of inherited channelopathies: long QT syndrome, Brugada syndrome, catecholaminergic polymorphic ventricular tachycardia, and short QT syndrome. (19631908)
2009
37
Protein kinase A-dependent biophysical phenotype for V227F-KCNJ2 mutation in catecholaminergic polymorphic ventricular tachycardia. (19843922)
2009
38
The long QT syndrome and catecholaminergic polymorphic ventricular tachycardia. (19602163)
2009
39
A Novel mutation of F189L in CASQ2 in families with catecholaminergic polymorphic ventricular tachycardia]. (18543230)
2008
40
Catecholaminergic polymorphic ventricular tachycardia-related mutations R33Q and L167H alter calcium sensitivity of human cardiac calsequestrin. (18399795)
2008
41
A novel early onset lethal form of catecholaminergic polymorphic ventricular tachycardia maps to chromosome 7p14-p22. (17666061)
2007
42
Unraveling the mechanisms of catecholaminergic polymorphic ventricular tachycardia. (17959506)
2006
43
Catecholaminergic polymorphic ventricular tachycardia: recent mechanistic insights. (15913575)
2005
44
Catecholaminergic polymorphic ventricular tachycardia: RYR2 mutations, bradycardia, and follow up of the patients. (16272262)
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:

5 (show all 32)
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.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.1298T> C (p.Leu433Pro)single nucleotide variantPathogenicrs121918602GRCh37Chr 1, 237617696: 237617696
6RYR2NM_001035.2(RYR2): c.6982C> T (p.Pro2328Ser)single nucleotide variantPathogenicrs121918603GRCh37Chr 1, 237802368: 237802368
7RYR2NM_001035.2(RYR2): c.13957G> T (p.Val4653Phe)single nucleotide variantLikely pathogenic, Pathogenicrs121918604GRCh37Chr 1, 237961337: 237961337
8RYR2NM_001035.2(RYR2): c.12602A> G (p.Gln4201Arg)single nucleotide variantPathogenicrs121918605GRCh37Chr 1, 237947614: 237947614
9RYR2NM_001035.2(RYR2): c.14579C> G (p.Ala4860Gly)single nucleotide variantPathogenicrs121918606GRCh37Chr 1, 237982481: 237982481
10RYR2NM_001035.2(RYR2): c.11570A> G (p.Tyr3857Cys)single nucleotide variantLikely pathogenicrs587782975GRCh37Chr 1, 237935324: 237935324
11RYR2NM_001035.2(RYR2): c.365G> A (p.Arg122His)single nucleotide variantLikely pathogenicrs727503396GRCh37Chr 1, 237532889: 237532889
12DSG2NM_001943.3(DSG2): c.166G> A (p.Val56Met)single nucleotide variantPathogenic, risk factorrs121913013GRCh37Chr 18, 29099850: 29099850
13CASQ2NM_001232.3(CASQ2): c.919G> C (p.Asp307His)single nucleotide variantPathogenicrs121434549GRCh37Chr 1, 116247833: 116247833
14CASQ2NM_001232.3(CASQ2): c.500T> A (p.Leu167His)single nucleotide variantPathogenicrs121434550GRCh37Chr 1, 116280877: 116280877
15RYR2NM_001035.2(RYR2): c.1847C> T (p.Ser616Leu)single nucleotide variantLikely pathogenicrs730880187GRCh38Chr 1, 237492973: 237492973
16RYR2NM_001035.2(RYR2): c.3271G> A (p.Glu1091Lys)single nucleotide variantLikely pathogenicrs730880191GRCh38Chr 1, 237566623: 237566623
17RYR2NM_001035.2(RYR2): c.12325A> G (p.Met4109Val)single nucleotide variantLikely pathogenicrs730880196GRCh38Chr 1, 237784037: 237784037
18RYR2NM_001035.2(RYR2): c.14726C> T (p.Thr4909Ile)single nucleotide variantLikely pathogenicrs730880201GRCh38Chr 1, 237830600: 237830600
19RYR2NM_001035.2(RYR2): c.169-199_273+819deldeletionPathogenicGRCh37Chr 1, 237493979: 237495101
20CALM1NM_006888.4(CALM1): c.161A> T (p.Asn54Ile)single nucleotide variantLikely pathogenic, Pathogenicrs267607276GRCh37Chr 14, 90867729: 90867729
21CALM1NM_006888.4(CALM1): c.293A> G (p.Asn98Ser)single nucleotide variantLikely pathogenic, Pathogenicrs267607277GRCh37Chr 14, 90870730: 90870730
22CASQ2NM_001232.3(CASQ2): c.62delA (p.Glu21Glyfs)deletionPathogenicrs397507555GRCh37Chr 1, 116311101: 116311101
23RYR2NM_001035.2(RYR2): c.12544G> C (p.Glu4182Gln)single nucleotide variantLikely pathogenicrs397516508GRCh37Chr 1, 237947556: 237947556
24RYR2NM_001035.2(RYR2): c.506G> A (p.Arg169Gln)single nucleotide variantLikely pathogenic, Pathogenicrs397516539GRCh37Chr 1, 237540665: 237540665
25CASQ2NM_001232.3(CASQ2): c.578_580delTCAinsAC (p.Ile193Asnfs)indelLikely pathogenicrs397516643GRCh37Chr 1, 116275548: 116275550
26LMNANM_005572.3(LMNA): c.1201C> T (p.Arg401Cys)single nucleotide variantPathogenicrs61094188GRCh37Chr 1, 156106048: 156106048
27TRDNTRDN, 4-BP DEL, 53ACAGdeletionPathogenic
28TRDNNM_006073.3(TRDN): c.613C> T (p.Gln205Ter)single nucleotide variantPathogenicrs397515458GRCh37Chr 6, 123825044: 123825044
29TRDNNM_006073.3(TRDN): c.176C> G (p.Thr59Arg)single nucleotide variantPathogenicrs397515459GRCh37Chr 6, 123892124: 123892124
30ANK2NM_001148.4(ANK2): c.10708G> A (p.Glu3570Lys)single nucleotide variantLikely pathogenic, Pathogenicrs180843436GRCh37Chr 4, 114282005: 114282005
31SCN5ANM_198056.2(SCN5A): c.1567C> T (p.Arg523Cys)single nucleotide variantLikely pathogenic, Pathogenicrs199473119GRCh37Chr 3, 38645526: 38645526
32SCN5ANM_000335.4(SCN5A): c.5126C> T (p.Ser1709Leu)single nucleotide variantLikely pathogenic, Pathogenicrs137854604GRCh37Chr 3, 38592734: 38592734

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 56)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.6CALM1, CALM2, CALM3
2
Show member pathways
9.6CALM1, CALM2, CALM3
3
Show member pathways
9.6CALM1, CALM2, CALM3
49.6CALM1, CALM2, CALM3
5
Show member pathways
9.6CALM1, CALM2, CALM3
69.6CALM1, CALM2, CALM3
79.6CALM1, CALM2, CALM3
89.6CALM1, CALM2, CALM3
99.6CALM1, CALM2, CALM3
109.6CALM1, CALM2, CALM3
11
Show member pathways
9.6CALM1, CALM2, CALM3
12
Show member pathways
9.6CALM1, CALM2, CALM3
139.6CALM1, CALM2, CALM3
14
Inositol phosphate metabolism (REACTOME)
Show member pathways
9.6CALM1, CALM2, CALM3
159.6CALM1, CALM2, CALM3
16
Show member pathways
9.6CALM1, CALM2, CALM3
17
Show member pathways
9.6CALM1, CALM2, CALM3
18
Show member pathways
9.6CALM1, CALM2, CALM3
199.6CALM1, CALM2, CALM3
209.6CALM1, CALM2, CALM3
219.6CALM1, CALM2, CALM3
229.6CALM1, CALM2, CALM3
23
p38 MAPK signaling pathway (Pathway Interaction Database)
Show member pathways
9.6CALM1, CALM2, CALM3
249.6CALM1, CALM2, CALM3
259.6CALM1, CALM2, CALM3
269.6CALM1, CALM2, CALM3
279.6CALM1, CALM2, CALM3
289.6CALM1, CALM2, CALM3
299.6CALM1, CALM2, CALM3
309.6CALM1, CALM2, CALM3
319.6CALM1, CALM2, CALM3
329.4ATP2A2, RYR1
33
Show member pathways
9.3CALM1, CALM2, CALM3, RYR2
349.3CALM1, CALM2, CALM3, KCNJ2
35
Show member pathways
9.3CALM1, CALM2, CALM3, KCNJ2
36
Show member pathways
9.3CALM1, CALM2, CALM3, RYR1
37
Show member pathways
8.9CALM1, CALM2, CALM3, CALR
38
Show member pathways
8.8CALM1, CALM2, CALM3, KCNJ2, RYR1, RYR2
39
Show member pathways
8.8CALM1, CALM2, CALM3, KCNJ2, RYR1, RYR2
408.7ATP2A2, CALM1, CALM2, CALM3
41
Show member pathways
8.7ATP2A2, CALM1, CALM2, CALM3
42
Show member pathways
8.7CALM1, CALM2, CALM3, LMNA, RYR1, RYR2
43
Show member pathways
8.5ATP2A2, CALM1, CALM2, CALM3, RYR2
448.5ATP2A2, CALM1, CALR, RYR1
458.2ATP2A2, CALM1, CALM2, CALM3, RYR1, RYR2
46
Show member pathways
8.2ATP2A2, CALM1, CALM2, CALM3, RYR2, SCN5A
47
Show member pathways
7.9ASPH, ATP2A2, FKBP1B, RYR1, RYR2, TRDN
487.9ATP2A2, CALM1, CALM2, CALM3, KCNH2, KCNJ2
49
Show member pathways
7.4ATP2A2, CALM1, CALM2, CALM3, CALR, CASQ2
507.0ANK2, ATP2A2, CASQ2, FKBP1B, KCNH2, KCNJ2

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:

(show all 19)
idNameGO IDScoreTop Affiliating Genes
1junctional membrane complexGO:003031410.4CASQ2, RYR1, TRDN
2spindle microtubuleGO:000587610.2CALM1, CALM2, CALM3
3vesicleGO:003198210.2CALM1, CALM2, CALM3
4spindle poleGO:000092210.1CALM1, CALM2, CALM3
5growth coneGO:003042610.0CALM1, CALM2, CALM3
6sarcomereGO:003001710.0CALM1, CALM2, CALM3, RYR2
7T-tubuleGO:00303159.9ANK2, KCNJ2, RYR1, SCN5A
8junctional sarcoplasmic reticulum membraneGO:00147019.7ASPH, CASQ2, RYR1, RYR2, TRDN
9sarcoplasmic reticulum lumenGO:00330189.6ASPH, CALR, CASQ2, TRDN
10smooth endoplasmic reticulumGO:00057909.5CALR, KCNJ2, RYR1, RYR2
11intercalated discGO:00147049.0ANK2, ATP2A2, DSG2, KCNJ2, SCN5A
12calcium channel complexGO:00347048.8ASPH, CALM1, CALM2, CALM3, CASQ2, FKBP1B
13Z discGO:00300188.7ANK2, CASQ2, FKBP1B, RYR2, SCN5A
14perinuclear region of cytoplasmGO:00484718.5ANK2, ATP2A2, CALR, KCNH2, LMNA
15sarcoplasmic reticulum membraneGO:00330178.4ASPH, ATP2A2, CASQ2, FKBP1B, RYR1, RYR2
16sarcoplasmic reticulumGO:00165298.3ATP2A2, CALR, CASQ2, FKBP1B, RYR1, RYR2
17plasma membraneGO:00058866.4ANK2, ASPH, CALM1, CALM2, CALM3, DSG2
18cytoplasmGO:00057376.1ANK2, ASPH, CALM1, CALM2, CALM3, CALR
19membraneGO:00160206.1ASPH, ATP2A2, CALR, DSG2, FKBP1B, KCNH2

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

(show top 50)    (show all 82)
idNameGO IDScoreTop Affiliating Genes
1regulation of SA node cell action potentialGO:009890710.7ANK2, RYR2
2Purkinje myocyte to ventricular cardiac muscle cell signalingGO:008602910.5CASQ2, RYR2
3positive regulation of sequestering of calcium ionGO:005128410.5FKBP1B, RYR2
4cellular response to caffeineGO:007131310.2CASQ2, RYR1, RYR2
5regulation of cardiac muscle cell contractionGO:008600410.2ANK2, KCNJ2, SCN5A
6negative regulation of peptidyl-threonine phosphorylationGO:001080110.1CALM1, CALM2, CALM3
7regulation of rhodopsin mediated signaling pathwayGO:002240010.1CALM1, CALM2, CALM3
8positive regulation of cyclic nucleotide metabolic processGO:003080110.1CALM1, CALM2, CALM3
9positive regulation of protein autophosphorylationGO:003195410.1CALM1, CALM2, CALM3
10regulation of cytokinesisGO:003246510.1CALM1, CALM2, CALM3
11positive regulation of protein dephosphorylationGO:003530710.1CALM1, CALM2, CALM3
12positive regulation of cyclic-nucleotide phosphodiesterase activityGO:005134310.1CALM1, CALM2, CALM3
13regulation of high voltage-gated calcium channel activityGO:190184110.1CALM1, CALM2, CALM3
14regulation of cell communication by electrical coupling involved in cardiac conductionGO:190184410.1CALM1, CALM2, CALM3
15positive regulation of phosphoprotein phosphatase activityGO:003251610.0CALM1, CALM2, CALM3
16regulation of cell communication by electrical couplingGO:001064910.0ASPH, CASQ2, TRDN
17positive regulation of peptidyl-threonine phosphorylationGO:001080010.0CALM1, CALM2, CALM3
18regulation of ventricular cardiac muscle cell membrane repolarizationGO:006030710.0ANK2, KCNH2, SCN5A
19release of sequestered calcium ion into cytosolGO:005120910.0FKBP1B, RYR1, RYR2
20cytosolic calcium ion homeostasisGO:005148010.0FKBP1B, RYR1, RYR2
21regulation of membrane repolarizationGO:00603069.9CASQ2, KCNH2, KCNJ2
22activation of adenylate cyclase activityGO:00071909.9CALM1, CALM2, CALM3
23response to corticosteroneGO:00514129.9CALM1, CALM2, CALM3
24glycogen catabolic processGO:00059809.9CALM1, CALM2, CALM3
25regulation of cardiac muscle cell membrane potentialGO:00860369.9ANK2, ATP2A2, TRDN
26positive regulation of protein serine/threonine kinase activityGO:00719029.9CALM1, CALM2, CALM3
27regulation of cardiac muscle contraction by calcium ion signalingGO:00108829.9ANK2, ATP2A2, RYR2
28sarcoplasmic reticulum calcium ion transportGO:00702969.9ANK2, ATP2A2, RYR2
29nitric oxide metabolic processGO:00462099.8CALM1, CALM2, CALM3
30regulation of nitric-oxide synthase activityGO:00509999.8CALM1, CALM2, CALM3
31release of sequestered calcium ion into cytosol by sarcoplasmic reticulumGO:00148089.8FKBP1B, RYR1, RYR2, TRDN
32ventricular cardiac muscle cell action potentialGO:00860059.8ANK2, KCNH2, RYR2, SCN5A
33positive regulation of nitric-oxide synthase activityGO:00510009.8CALM1, CALM2, CALM3
34response to amphetamineGO:00019759.7CALM1, CALM2, CALM3
35regulation of cardiac muscle contractionGO:00551179.6ANK2, CALM1, CALM2, CALM3, RYR2
36positive regulation of heart rateGO:00104609.5ATP2A2, RYR2, SCN5A
37positive regulation of ryanodine-sensitive calcium-release channel activityGO:00603169.4ASPH, CALM1, CALM2, CALM3, TRDN
38regulation of heart rate by cardiac conductionGO:00860919.3ANK2, DSG2, KCNH2, KCNJ2, SCN5A
39negative regulation of ryanodine-sensitive calcium-release channel activityGO:00603159.2CALM1, CALM2, CALM3, CASQ2, FKBP1B, TRDN
40detection of calcium ionGO:00055139.1ASPH, CALM1, CALM2, CALM3, CASQ2, RYR2
41regulation of ryanodine-sensitive calcium-release channel activityGO:00603149.1ASPH, CALM3, FKBP1B
42muscle contractionGO:00069368.8ASPH, CALM1, CALM2, CALM3, RYR1, TRDN
43cardiac muscle contractionGO:00600488.6ANK2, CASQ2, KCNH2, RYR2, SCN5A
44calcium ion transmembrane transportGO:00705888.3ASPH, ATP2A2, FKBP1B, RYR1, RYR2
45cellular calcium ion homeostasisGO:00068748.2ANK2, ATP2A2, CALR, RYR1, RYR2, TRDN
46regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulumGO:00108808.1ASPH, CALM1, CALM2, CALM3, CASQ2, FKBP1B
47regulation of heart rateGO:00020278.1ANK2, CALM1, CALM2, CALM3, CASQ2, FKBP1B
48ion transmembrane transportGO:00342208.1ASPH, ATP2A2, CASQ2, FKBP1B, RYR1, RYR2
49regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ionGO:00108817.8ANK2, ASPH, CALM1, CALM2, CALM3, CASQ2
50transmembrane transportGO:00550857.1ASPH, ATP2A2, CASQ2, FKBP1B, KCNH2, RYR1

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

(show all 23)
idNameGO IDScoreTop Affiliating Genes
1calcium-release channel activityGO:001527810.7RYR1, RYR2
2voltage-gated potassium channel activity involved in cardiac muscle cell action potential repolarizationGO:008600810.4KCNH2, KCNJ2
3ryanodine-sensitive calcium-release channel activityGO:000521910.2FKBP1B, RYR1, RYR2
4nitric-oxide synthase regulator activityGO:003023510.2CALM1, CALM2, CALM3
5titin bindingGO:003143210.2CALM1, CALM2, CALM3
6type 3 metabotropic glutamate receptor bindingGO:003180010.2CALM1, CALM2, CALM3
7N-terminal myristoylation domain bindingGO:003199710.2CALM1, CALM2, CALM3
8protein phosphatase activator activityGO:007254210.2CALM1, CALM2, CALM3
9protein serine/threonine kinase activator activityGO:004353910.2CALM1, CALM2, CALM3
10thioesterase bindingGO:003199610.2CALM1, CALM2, CALM3
11adenylate cyclase bindingGO:000817910.2CALM1, CALM2, CALM3
12phosphatidylinositol 3-kinase bindingGO:004354810.2CALM1, CALM2, CALM3
13calcium-dependent protein bindingGO:00483069.9CALM1, CALM2, CALM3, CASQ2
14phospholipase bindingGO:00432749.7CALM1, CALM2, CALM3
15ion channel activityGO:00052169.7KCNH2, RYR1, RYR2, SCN5A
16kinase activityGO:00163019.6CALM1, CALM2, CALM3
17protein domain specific bindingGO:00199049.6CALM1, CALM2, CALM3, SCN5A
18protein kinase bindingGO:00199019.3ANK2, CALM1, CALM2, CALM3, RYR2, SCN5A
19enzyme bindingGO:00198998.9ANK2, ATP2A2, RYR1, RYR2, SCN5A
20nitric-oxide synthase bindingGO:00509988.9CALM1, CALM2, CALM3, SCN5A
21ion channel bindingGO:00443258.1ANK2, ASPH, CALM1, CALM2, CALM3, FKBP1B
22calcium ion bindingGO:00055097.1ASPH, ATP2A2, CALM1, CALM2, CALM3, CALR
23protein bindingGO:00055154.4ANK2, ASPH, ATP2A2, CALM1, CALM2, CALM3

Sources for Catecholaminergic Polymorphic Ventricular Tachycardia

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
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64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet