MCID: CTC001
MIFTS: 67

Catecholaminergic Polymorphic Ventricular Tachycardia malady

Genetic diseases, Rare diseases categories

Summaries for Catecholaminergic Polymorphic Ventricular Tachycardia

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NIH Rare Diseases:43 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 atrial fibrillation, and has symptoms including vertigo, sudden cardiac death and cardiac rhythm disorder/arrhythmia. An important gene associated with Catecholaminergic Polymorphic Ventricular Tachycardia is CASQ2 (calsequestrin 2 (cardiac muscle)), and among its related pathways are Netrin Signaling and Adrenergic signaling in cardiomyocytes. The compounds dibucaine 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 homeostasis/metabolism.

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: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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Sources:
21GeneReviews, 43NIH Rare Diseases, 22GeneTests, 23Genetics Home Reference, 45Novoseek, 49Orphanet, 24GTR, 4CDC, 62UMLS, 28ICD10 via Orphanet
See all sources

Catecholaminergic Polymorphic Ventricular Tachycardia, Aliases & Descriptions:

Name: Catecholaminergic Polymorphic Ventricular Tachycardia 21 43 22 23 49
Catecholamine-Induced Polymorphic Ventricular Tachycardia 21 43 23 62
Familial Polymorphic Ventricular Tachycardia 21 43 23 62
Cpvt 21 43 23 49
Multifocal Ventricular Premature Beats 43 49 62
Ventricular Fibrillation, Idiopathic 43 22 45
Familial Paroxysmal Ventricular Fibrillation, Not Brugada Type 43 49
Ventricular Tachycardia, Catecholaminergic Polymorphic 45 24
Idiopathic Ventricular Fibrillation, Not Brugada Type 43 49
Bidirectional Tachycardia Induced by Catecholamine 43 49
Polymorphic Catecholergic Ventricular Tachycardia 43 62
Ventricular Fibrillation, Paroxysmal Familial 43 24
Malignant Paroxysmal Ventricular Tachycardia 43 49
Double Tachycardia Induced by Catecholamines 43 49
 
Paroxysmal Ventricular Fibrillation 43 49
Syncopal Paroxysmal Tachycardia 43 49
Bidirectional Tachycardia 43 49
Syncopal Tachyarythmia 43 49
Fpvt 21 23
Ivf 43 4
Ventricular Tachycardia, Catecholaminergic Polymorphic, 1 62
Ventricular Tachycardia, Stress-Induced Polymorphic 62
Bidirectional Tachycardia Induced by Catecholamines 23
Stress-Induced Polymorphic Ventricular Tachycardia 43
Ventricular Tachycardia, Familial Polymorphic 45
Paroxysmal Familial Ventricular Fibrillation 43
Idiopathic Ventricular Fibrillation 43
Cvpt 43


Classifications:

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


Characteristics (Orphanet epidemiological data):

49
catecholaminergic polymorphic ventricular tachycardia:
Inheritance: Autosomal dominant,Autosomal recessive; Prevalence: 1-5/10000 (Europe); Age of onset: Childhood; Age of death: any age
familial paroxysmal ventricular fibrillation, not brugada type:
Inheritance: Autosomal dominant,Not applicable; Age of onset: All ages


External Ids:

Orphanet49 3286, 228140
ICD10 via Orphanet28 I47.2, I49.0

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

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

(show top 50)    (show all 93)
idRelated DiseaseScoreTop Affiliating Genes
1long qt syndrome31.2KCNJ2, SCN5A, ANK2, RYR2
2atrial fibrillation31.0KCNJ2, SCN5A, RYR2
3brugada syndrome30.9SCN5A, ANK2
4malignant hyperthermia30.6CALM1, CASQ2, RYR2, RYR1
5arrhythmogenic right ventricular cardiomyopathy30.6SCN5A, RYR2, RYR1
6bidirectional tachycardia11.0
7syncope10.8
8ventricular tachycardia, catecholaminergic polymorphic, 210.7
9ventricular tachycardia, catecholaminergic polymorphic, 410.7
10ventricular tachycardia, catecholaminergic polymorphic, 310.6
11ventricular tachycardia, catecholaminergic polymorphic, 110.6
12ventricular fibrillation, paroxysmal familial, 210.6
13ovarian hyperstimulation syndrome10.6
14right bundle branch block10.6
15infertility10.6
16ventricular tachycardia, catecholaminergic polymorphic, 5, with or without muscle weakness10.5
17ryr2-related catecholaminergic polymorphic ventricular tachycardia10.5
18casq2-related catecholaminergic polymorphic ventricular tachycardia10.5
19trdn-related catecholaminergic polymorphic ventricular tachycardia10.5
20calm1-related catecholaminergic polymorphic ventricular tachycardia10.5
21polycystic ovary syndrome10.5
22endometriosis10.5
23cardiac arrhythmia, ankyrin-b-related10.4
24short qt syndrome10.4
25adenomyosis10.4
26endotheliitis10.4
27wolff-parkinson-white syndrome10.3
28thrombophilia10.3
29ectopic pregnancy10.3
30ventricular fibrillation, familial, 110.3
31ovarian cyst10.2
32left ventricular noncompaction10.2
33obesity10.2
34azoospermia10.2
35vaginitis10.2
36pulmonary embolism10.2
37beckwith-wiedemann syndrome10.1
38premature ovarian failure10.1
39hyperandrogenism10.1
40bacterial vaginosis10.1
41placenta accreta10.1
42endometritis10.1
43blindness10.1
44central core myopathy10.0RYR2
45congenital heart disease10.0RYR2, KCNJ2
46central core disease10.0RYR1, RYR2
47hypokalemic periodic paralysis, type 110.0RYR1, KCNJ2
48familial atrial fibrillation10.0SCN5A
49congenital heart block10.0SCN5A, CALR
50noonan syndrome 110.0RYR1, RYR2, SCN5A

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:

 49
  • 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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Drug clinical trials:

Search ClinicalTrials for Catecholaminergic Polymorphic Ventricular Tachycardia

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 Panels22
2 Idiopathic Ventricular Fibrillation22
3 Catecholaminergic Polymorphic Ventricular Tachycardia22 24 TRDN
4 Paroxysmal Familial Ventricular Fibrillation24

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:

37
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053696.9RYR1, KCNJ2, SCN5A, FKBP1B, ASPH, CALR
2MP:00053766.6FKBP1B, ASPH, ANK2, CALR, CASQ2, RYR2
3MP:00053856.2KCNJ2, SCN5A, FKBP1B, ASPH, ANK2, CALR
4MP:00107685.9KCNJ2, SCN5A, FKBP1B, ASPH, ANK2, CALR

Publications for Catecholaminergic Polymorphic Ventricular Tachycardia

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Articles related to Catecholaminergic Polymorphic Ventricular Tachycardia:

(show top 50)    (show all 186)
idTitleAuthorsYear
1
Sudden Cardiac Arrest During Sex in Patients with Either Catecholaminergic Polymorphic Ventricular Tachycardia or Long-QT Syndrome: A Rare But Shocking Experience. (25514987)
2015
2
Paralogue annotation identifies novel pathogenic variants in patients with Brugada syndrome and catecholaminergic polymorphic ventricular tachycardia. (24136861)
2014
3
Clinical utility gene card for: Catecholaminergic polymorphic ventricular tachycardia (CPVT). (23549275)
2014
4
Sinus node dysfunction in catecholaminergic polymorphic ventricular tachycardia: risk factor and potential therapeutic target? (25112803)
2014
5
Catecholaminergic polymorphic ventricular tachycardia in a child with Brugada pattern on ECG: One patient with two diseases? (25016147)
2014
6
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
7
Triple mode of action of flecainide in catecholaminergic polymorphic ventricular tachycardia: reply. (23536607)
2013
8
Ca2+ signaling in human induced pluripotent stem cell-derived cardiomyocytes (iPS-CM) from normal and catecholaminergic polymorphic ventricular tachycardia (CPVT)-afflicted subjects. (23684427)
2013
9
New data on catecholaminergic polymorphic ventricular tachycardia in Japan: from the bench to the bedside. (23708865)
2013
10
Catecholaminergic polymorphic ventricular tachycardia detected by an implantable loop recorder in a child. (23917010)
2013
11
Abnormal propagation of calcium waves and ultrastructural remodeling in recessive catecholaminergic polymorphic ventricular tachycardia. (23674379)
2013
12
Catecholaminergic polymorphic ventricular tachycardia found in an adolescent after a methylenedioxymethamphetamine and marijuana-induced cardiac arrest. (22584762)
2012
13
Clinical characteristics and mutational analysis of the RyR2 gene in seven Czech families with catecholaminergic polymorphic ventricular tachycardia. (22519458)
2012
14
Flecainide and antiarrhythmic effects in a mouse model of catecholaminergic polymorphic ventricular tachycardia. (22867967)
2012
15
Effects of flecainide therapy on inappropriate shocks and arrhythmias in catecholaminergic polymorphic ventricular tachycardia. (22672791)
2012
16
Catecholaminergic polymorphic ventricular tachycardia. (23022705)
2012
17
A classic electrocardiographic manifestation of catecholaminergic polymorphic ventricular tachycardia. (21806698)
2012
18
Treatment of asymptomatic catecholaminergic polymorphic ventricular tachycardia. (22642633)
2012
19
Familial evaluation in catecholaminergic polymorphic ventricular tachycardia: disease penetrance and expression in cardiac ryanodine receptor mutation-carrying relatives. (22787013)
2012
20
Flecainide suppresses defibrillator-induced storming in catecholaminergic polymorphic ventricular tachycardia. (22553997)
2012
21
Guidelines for the diagnosis and management of Catecholaminergic Polymorphic Ventricular Tachycardia. (22119737)
2012
22
Mechanism underlying catecholaminergic polymorphic ventricular tachycardia and approaches to therapy. (21872879)
2011
23
Case of undiagnosed catecholaminergic polymorphic ventricular tachycardia presenting with ventricular fibrillation after administration of succinylcholine during anesthesia for modified electroconvulsive therapy. (21682817)
2011
24
Mutation-linked defective interdomain interactions within ryanodine receptor cause aberrant CaA^a8_release leading to catecholaminergic polymorphic ventricular tachycardia. (21768539)
2011
25
Mechanism of antiarrhythmic effects of flecainide in catecholaminergic polymorphic ventricular tachycardia. (21885838)
2011
26
Biophysical and molecular characterization of a novel de novo KCNJ2 mutation associated with Andersen-Tawil syndrome and catecholaminergic polymorphic ventricular tachycardia mimicry. (21148745)
2011
27
Molecular basis of catecholaminergic polymorphic ventricular tachycardia. (19121813)
2009
28
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
29
Increased Ca2+ sensitivity of the ryanodine receptor mutant RyR2R4496C underlies catecholaminergic polymorphic ventricular tachycardia. (19096022)
2009
30
Ten-year follow-up of cardiac sympathectomy in a young woman with catecholaminergic polymorphic ventricular tachycardia and an implantable cardioverter defibrillator. (19298566)
2009
31
Left cardiac sympathetic denervation for the treatment of long QT syndrome and catecholaminergic polymorphic ventricular tachycardia using video-assisted thoracic surgery. (19467503)
2009
32
Search for cardiac calcium cycling gene mutations in familial ventricular arrhythmias resembling catecholaminergic polymorphic ventricular tachycardia. (19216760)
2009
33
Catecholaminergic polymorphic ventricular tachycardia: a current overview. (19371192)
2009
34
Mechanisms and clinical management of inherited channelopathies: long QT syndrome, Brugada syndrome, catecholaminergic polymorphic ventricular tachycardia, and short QT syndrome. (19631908)
2009
35
Protein kinase A-dependent biophysical phenotype for V227F-KCNJ2 mutation in catecholaminergic polymorphic ventricular tachycardia. (19843922)
2009
36
The long QT syndrome and catecholaminergic polymorphic ventricular tachycardia. (19602163)
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:

7 (show all 22)
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.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
9DPP6DPP6: c.52-141059C> Tsingle nucleotide variantLikely pathogenic, PathogenicGRCh38Chr 7, 154305155: 154305155
10CASQ2NM_001232.3(CASQ2): c.919G> C (p.Asp307His)single nucleotide variantPathogenicrs121434549GRCh37Chr 1, 116247833: 116247833
11CASQ2CASQ2, 16-BP DEL, NT339deletionPathogenic
12CASQ2NM_001232.3(CASQ2): c.500T> A (p.Leu167His)single nucleotide variantPathogenicrs121434550GRCh37Chr 1, 116280877: 116280877
13RYR2NM_001035.2: c.169-199_273+819del1123deletionPathogenicGRCh37Chr 1, 237493979: 237495101
14CALM1NM_006888.4(CALM1): c.161A> T (p.Asn54Ile)single nucleotide variantPathogenicrs267607276GRCh37Chr 14, 90867729: 90867729
15CALM1NM_006888.4(CALM1): c.293A> G (p.Asn98Ser)single nucleotide variantPathogenicrs267607277GRCh37Chr 14, 90870730: 90870730
16CASQ2NM_001232.3(CASQ2): c.62delA (p.Glu21Glyfs)deletionPathogenicrs397507555GRCh37Chr 1, 116311101: 116311101
17CASQ2NM_001232.3(CASQ2): c.97C> T (p.Arg33Ter)single nucleotide variantPathogenicrs397507556GRCh37Chr 1, 116311066: 116311066
18CASQ2NM_001232.3(CASQ2): c.578_580delTCAinsAC (p.Ile193Asnfs)indelLikely pathogenicrs397516643GRCh37Chr 1, 116275548: 116275550
19TRDNTRDN, 4-BP DEL, 53ACAGdeletionPathogenic
20TRDNNM_006073.3(TRDN): c.613C> T (p.Gln205Ter)single nucleotide variantPathogenicrs397515458GRCh37Chr 6, 123825044: 123825044
21TRDNNM_006073.3(TRDN): c.176C> G (p.Thr59Arg)single nucleotide variantPathogenicrs397515459GRCh37Chr 6, 123892124: 123892124
22SCN5ANM_000335.4(SCN5A): c.5126C> T (p.Ser1709Leu)single nucleotide variantPathogenicrs137854604GRCh37Chr 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/GeneDecks:

(show all 15)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.6RYR1, RYR2
29.6RYR2, CALM1, SCN5A
3
Show member pathways
9.4CAMP, CALM1, KCNJ2
49.3ANK2, SCN5A
5
Show member pathways
9.3TRDN, RYR2, RYR1
6
Show member pathways
9.3RYR1, RYR2, CALM1
7
Show member pathways
9.3CALM1, RYR2, RYR1
89.3RYR1, RYR2, CALM1
99.1CALR, RYR2, RYR1
109.1RYR1, CALR, CALM1
11
Show member pathways
9.0SCN5A, CALM1, RYR2, RYR1
12
Show member pathways
8.9KCNJ2, CALM1, RYR2, RYR1
13
Show member pathways
8.9KCNJ2, CALM1, RYR2, RYR1
14
Show member pathways
Calcium Regulation in the Cardiac Cell38
8.6CALM1, CALR, CASQ2, RYR2, RYR1
157.9RYR2, CASQ2, ANK2, FKBP1B, SCN5A, 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 33)
idCompoundScoreTop Affiliating Genes
1dibucaine45 1311.2SCN5A, CALM1
24-chloro-m-cresol459.9RYR1, RYR2
3cyclic adp-ribose459.9RYR1, RYR2
4naphthoquinone459.9TRDN, RYR1
5procaine45 30 1311.9RYR1, RYR2
6dantrolene30 45 1311.9RYR2, RYR1
7ruthenium red309.9RYR2, RYR1
8isoflurane51 45 1311.8RYR1, CALM1
92-mercaptoethanol459.7RYR1, TRDN
10ca2+309.7RYR2, RYR1
11ruthenium459.7TRDN, RYR2, RYR1
12mg2+309.6RYR1, RYR2, KCNJ2
13carvedilol45 51 30 1312.4RYR1, RYR2, FKBP1B
14thapsigargin45 6110.4RYR1, RYR2, CALR
15halothane45 51 30 1312.4RYR1, CALR
16tacrolimus45 51 1311.3FKBP1B, RYR2, RYR1
17sodium45 2610.3RYR2, CAMP, CALR, SCN5A
18caffeine45 30 3 51 26 1314.2RYR1, RYR2, TRDN, FKBP1B
19aspartate459.2SCN5A, CAMP, CASQ2, RYR1
20chloride459.1CALR, CAMP, RYR2, RYR1
21dihydropyridine459.0ASPH, CALR, TRDN, RYR1
22magnesium45 26 1311.0KCNJ2, CALR, RYR2, RYR1
23phospholipid458.9RYR1, RYR2, CAMP
24arginine458.8RYR1, CALR, SCN5A, KCNJ2
25nitric oxide45 26 1310.8CALR, CAMP, RYR2, RYR1
26inositol 1,4,5 trisphosphate458.7ANK2, CALR, RYR2, RYR1
27isoproterenol45 139.7KCNJ2, FKBP1B, CAMP, RYR2, RYR1
28glutamate458.6CALR, CAMP, RYR2, RYR1
29potassium45 26 1310.5KCNJ2, SCN5A, DPP6, CAMP, RYR2, RYR1
30lipid458.4RYR1, RYR2, CAMP, CALR, FKBP1B
31serine458.3RYR1, CAMP, CALR, DPP6, SCN5A
32ryanodine45 30 619.1RYR1, FKBP1B, ASPH, ANK2, CALR, CASQ2
33calcium45 51 26 138.7KCNJ2, SCN5A, FKBP1B, ASPH, ANK2, CALM1

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 14)
idNameGO IDScoreTop Affiliating Genes
1voltage-gated calcium channel complexGO:00058919.8TRDN, CASQ2
2junctional membrane complexGO:00303149.7RYR1, TRDN
3smooth endoplasmic reticulumGO:00057909.5RYR1, KCNJ2
4sarcoplasmic reticulumGO:00165299.3CASQ2, TRDN, RYR2, RYR1
5sarcoplasmic reticulum lumenGO:00330189.2TRDN, CASQ2, CALR, ASPH
6intercalated discGO:00147049.1KCNJ2, SCN5A, ANK2
7intracellularGO:00056228.9CASQ2, CALR, ANK2
8calcium channel complexGO:00347048.9FKBP1B, ASPH, CASQ2, TRDN, RYR2
9junctional sarcoplasmic reticulum membraneGO:00147018.8ASPH, CASQ2, TRDN, RYR2, RYR1
10Z discGO:00300188.8RYR2, CASQ2, ANK2, FKBP1B
11endoplasmic reticulumGO:00057838.6SCN5A, ASPH, CALR, TRDN
12T-tubuleGO:00303158.5KCNJ2, SCN5A, ANK2, RYR1
13sarcoplasmic reticulum membraneGO:00330178.3RYR1, RYR2, TRDN, CASQ2, ASPH, FKBP1B
14plasma membraneGO:00058867.3KCNJ2, SCN5A, ASPH, ANK2, TRDN, RYR2

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

(show all 41)
idNameGO IDScoreTop Affiliating Genes
1Purkinje myocyte to ventricular cardiac muscle cell signalingGO:008602910.3CASQ2, RYR2
2sequestering of calcium ionGO:005120810.1CASQ2, CALR
3membrane depolarization during cardiac muscle cell action potentialGO:008601210.1KCNJ2, SCN5A
4regulation of membrane repolarizationGO:006030610.1KCNJ2, CASQ2
5positive regulation of sequestering of calcium ionGO:005128410.1FKBP1B, RYR2
6cardiac muscle cell action potential involved in contractionGO:008600210.0KCNJ2, SCN5A
7cell communication by electrical coupling involved in cardiac conductionGO:008606410.0FKBP1B, RYR2
8response to redox stateGO:005177510.0FKBP1B, RYR2
9positive regulation of ryanodine-sensitive calcium-release channel activityGO:006031610.0ASPH, TRDN
10detection of calcium ionGO:00055139.8RYR2, CASQ2, ASPH
11regulation of cell communication by electrical couplingGO:00106499.8TRDN, CASQ2, ASPH
12protein maturation by protein foldingGO:00224179.8CALR, FKBP1B
13negative regulation of ryanodine-sensitive calcium-release channel activityGO:00603159.8FKBP1B, CASQ2, TRDN
14response to caffeineGO:00310009.8RYR2, RYR1
15calcium-mediated signaling using intracellular calcium sourceGO:00355849.8FKBP1B, RYR2
16cellular response to caffeineGO:00713139.7RYR1, RYR2, CASQ2
17sarcoplasmic reticulum calcium ion transportGO:00702969.7ANK2, RYR2
18regulation of cardiac muscle cell membrane potentialGO:00860369.7ANK2, TRDN
19membrane depolarization during SA node cell action potentialGO:00860469.7SCN5A, ANK2
20SA node cell to atrial cardiac muscle cell communicationGO:00860709.7ANK2, SCN5A
21regulation of release of sequestered calcium ion into cytosolGO:00512799.7ANK2, TRDN
22regulation of ryanodine-sensitive calcium-release channel activityGO:00603149.6FKBP1B, ASPH
23regulation of cardiac muscle cell contractionGO:00860049.6SCN5A, ANK2
24release of sequestered calcium ion into cytosolGO:00512099.6RYR1, RYR2
25regulation of cardiac muscle contractionGO:00551179.5ANK2, RYR2
26regulation of ventricular cardiac muscle cell membrane repolarizationGO:00603079.5ANK2, SCN5A
27ventricular cardiac muscle cell action potentialGO:00860059.5RYR2, ANK2, SCN5A
28cytosolic calcium ion homeostasisGO:00514809.5FKBP1B, RYR2, RYR1
29calcium ion transmembrane transportGO:00705889.4ASPH, FKBP1B
30ion transmembrane transportGO:00342209.4CASQ2, TRDN, RYR2, RYR1
31regulation of heart rate by cardiac conductionGO:00860919.4KCNJ2, SCN5A, ANK2
32cellular response to calcium ionGO:00712779.3ASPH, SCN5A
33muscle contractionGO:00069369.3ASPH, TRDN, RYR1
34regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulumGO:00108809.3TRDN, CASQ2, ASPH, FKBP1B
35regulation of heart rateGO:00020279.2SCN5A, ANK2, CASQ2, RYR2
36cardiac muscle contractionGO:00600489.2SCN5A, ANK2, CASQ2, RYR2
37release of sequestered calcium ion into cytosol by sarcoplasmic reticulumGO:00148089.2FKBP1B, TRDN, RYR2, RYR1
38transmembrane transportGO:00550859.1CASQ2, TRDN, RYR2, RYR1
39cellular calcium ion homeostasisGO:00068749.0ANK2, CALR, TRDN, RYR2
40regulation of protein stabilityGO:00316479.0ASPH, ANK2
41regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ionGO:00108818.5RYR2, CASQ2, ANK2, ASPH, FKBP1B

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

(show all 9)
idNameGO IDScoreTop Affiliating Genes
1calcium-release channel activityGO:00152789.7RYR2, RYR1
2calcium channel activityGO:00052629.6RYR1, RYR2
3calmodulin bindingGO:00055169.3RYR1, RYR2, SCN5A
4ryanodine-sensitive calcium-release channel activityGO:00052199.2FKBP1B, RYR2, RYR1
5protein binding, bridgingGO:00306749.1TRDN, ANK2
6enzyme bindingGO:00198999.0SCN5A, ANK2, RYR2
7calcium ion bindingGO:00055098.5ASPH, CALR, CASQ2, RYR2, RYR1
8ion channel bindingGO:00443257.9RYR2, TRDN, ANK2, ASPH, FKBP1B, SCN5A
9protein bindingGO:00055156.1SCN5A, FKBP1B, ASPH, ANK2, CALR, CAMP

Products for genes affiliated with Catecholaminergic Polymorphic Ventricular Tachycardia

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4CDC
15ExPASy
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
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