CPVT
MCID: VNT013
MIFTS: 41

Ventricular Tachycardia, Catecholaminergic Polymorphic, 1 (CPVT) malady

Genetic diseases, Rare diseases categories
Download this MalaCard

Summaries for Ventricular Tachycardia, Catecholaminergic Polymorphic, 1

About this section


Fully expand this MalaCard
MalaCards based summary: Ventricular Tachycardia, Catecholaminergic Polymorphic, 1, also known as catecholaminergic polymorphic ventricular tachycardia, is related to catecholaminergic polymorphic ventricular tachycardia and malignant hyperthermia, and has symptoms including cardiac rhythm disorder/arrhythmia, dizziness and collapse/sudden death/cardiac arrest/cardiorespiratory arrest. An important gene associated with Ventricular Tachycardia, Catecholaminergic Polymorphic, 1 is RYR2 (ryanodine receptor 2 (cardiac)), and among its related pathways are Oxytocin signaling pathway and Ca-dependent events. The compounds caffeine and ruthenium have been mentioned in the context of this disorder. Affiliated tissues include heart, and related mouse phenotype muscle.

Descriptions from OMIM:46 604772,611938,614021,614916,615441

Aliases & Classifications for Ventricular Tachycardia, Catecholaminergic Polymorphic, 1

About this section
Sources:
48Orphanet, 62UMLS, 46OMIM, 26ICD10 via Orphanet
See all sources

Ventricular Tachycardia, Catecholaminergic Polymorphic, 1, Aliases & Descriptions:

Name: Ventricular Tachycardia, Catecholaminergic Polymorphic, 1 46
Catecholaminergic Polymorphic Ventricular Tachycardia 48 62
Multifocal Ventricular Premature Beats 48 62
Paroxysmal Ventricular Fibrillation 48 62
Bidirectional Tachycardia 48 62
Bidirectional Tachycardia Induced by Catecholamine 48
 
Double Tachycardia Induced by Catecholamines 48
Malignant Paroxysmal Ventricular Tachycardia 48
Syncopal Paroxysmal Tachycardia 48
Syncopal Tachyarythmia 48
Cpvt 48


Classifications:

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


Characteristics (Orphanet epidemiological data):

48
catecholaminergic polymorphic ventricular tachycardia:
Inheritance: Autosomal dominant,Autosomal recessive; Prevalence: 1-5/10000; Age of onset: Childhood; Age of death: Any age


External Ids:

ICD10 via Orphanet26 I47.2

Related Diseases for Ventricular Tachycardia, Catecholaminergic Polymorphic, 1

About this section

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 Ventricular Tachycardia, Catecholaminergic Polymorphic, 1 via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show all 20)
idRelated DiseaseScoreTop Affiliating Genes
1catecholaminergic polymorphic ventricular tachycardia30.4CASQ2, RYR2
2malignant hyperthermia30.1RYR2, CASQ2, CALM1
3bidirectional tachycardia11.0
4paroxysmal ventricular fibrillation10.8
5long qt syndrome10.8
6syncope10.8
7brugada syndrome10.6
8calm1-related catecholaminergic polymorphic ventricular tachycardia10.5
9ryr2-related catecholaminergic polymorphic ventricular tachycardia10.5
10casq2-related catecholaminergic polymorphic ventricular tachycardia10.5
11trdn-related catecholaminergic polymorphic ventricular tachycardia10.5
12arrhythmogenic right ventricular cardiomyopathy10.4
13andersen-tawil syndrome10.4
14short qt syndrome10.4
15familial ventricular tachycardia10.4
16long qt syndrome 410.4
17ventricular fibrillation, familial, 110.2
18hypokalemic periodic paralysis10.2
19pulmonary embolism10.2
20congenital heart disease10.0RYR2, TRDN

Graphical network of diseases related to Ventricular Tachycardia, Catecholaminergic Polymorphic, 1:



Diseases related to ventricular tachycardia, catecholaminergic polymorphic, 1

Symptoms for Ventricular Tachycardia, Catecholaminergic Polymorphic, 1

About this section

Symptoms by clinical synopsis from OMIM:

604772

Clinical features from OMIM:

604772,611938,614021,614916,615441

Symptoms:

48
  • cardiac rhythm disorder/arrhythmia
  • dizziness
  • collapse/sudden death/cardiac arrest/cardiorespiratory arrest

HPO human phenotypes related to Ventricular Tachycardia, Catecholaminergic Polymorphic, 1:

(show all 6)
id Description Frequency HPO Source Accession
1 vertigo typical (50%) HP:0002321
2 sudden cardiac death occasional (7.5%) HP:0001645
3 atrial fibrillation rare (5%) HP:0005110
4 autosomal dominant inheritance HP:0000006
5 seizures HP:0001250
6 syncope HP:0001279

Drugs & Therapeutics for Ventricular Tachycardia, Catecholaminergic Polymorphic, 1

About this section

Drug clinical trials:

Search ClinicalTrials for Ventricular Tachycardia, Catecholaminergic Polymorphic, 1

Search NIH Clinical Center for Ventricular Tachycardia, Catecholaminergic Polymorphic, 1

Genetic Tests for Ventricular Tachycardia, Catecholaminergic Polymorphic, 1

About this section

Anatomical Context for Ventricular Tachycardia, Catecholaminergic Polymorphic, 1

About this section

MalaCards organs/tissues related to Ventricular Tachycardia, Catecholaminergic Polymorphic, 1:

32
Heart

Animal Models for Ventricular Tachycardia, Catecholaminergic Polymorphic, 1 or affiliated genes

About this section

MGI Mouse Phenotypes related to Ventricular Tachycardia, Catecholaminergic Polymorphic, 1:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053698.5RYR2, TRDN, CASQ2

Publications for Ventricular Tachycardia, Catecholaminergic Polymorphic, 1

About this section

Variations for Ventricular Tachycardia, Catecholaminergic Polymorphic, 1

About this section

UniProtKB/Swiss-Prot genetic disease variations for Ventricular Tachycardia, Catecholaminergic Polymorphic, 1:

64 (show all 39)
id Symbol AA change Variation ID SNP ID
1RYR2p.Leu433ProVAR_011395
2RYR2p.Ser2246LeuVAR_011396
3RYR2p.Pro2328SerVAR_011397
4RYR2p.Asn2386IleVAR_011398
5RYR2p.Arg2474SerVAR_011399
6RYR2p.Asn4104LysVAR_011400
7RYR2p.Gln4201ArgVAR_011401
8RYR2p.Arg4497CysVAR_011402
9RYR2p.Val4653PheVAR_011403
10RYR2p.Val2306IleVAR_023694
11RYR2p.Pro4902LeuVAR_023695
12RYR2p.Arg4959GlnVAR_023696
13RYR2p.Pro164SerVAR_044086
14RYR2p.Arg176GlnVAR_044087
15RYR2p.Arg414LeuVAR_044088
16RYR2p.Ile419PheVAR_044089
17RYR2p.Arg420TrpVAR_044090rs190140598
18RYR2p.Glu2311AspVAR_044092
19RYR2p.Ala2387ProVAR_044093
20RYR2p.Tyr2392CysVAR_044094
21RYR2p.Ala2403ThrVAR_044095
22RYR2p.Thr2504MetVAR_044096
23RYR2p.Leu3778PheVAR_044097
24RYR2p.Gly3946SerVAR_044098
25RYR2p.Asn4097SerVAR_044099
26RYR2p.Glu4146LysVAR_044100
27RYR2p.Thr4158ProVAR_044101
28RYR2p.Phe4499CysVAR_044102
29RYR2p.Met4504IleVAR_044103
30RYR2p.Ala4510ThrVAR_044104
31RYR2p.Ala4607ProVAR_044105
32RYR2p.Gly4671ArgVAR_044106
33RYR2p.Val4771IleVAR_044107
34RYR2p.Ile4848ValVAR_044108
35RYR2p.Ala4860GlyVAR_044109
36RYR2p.Ile4867MetVAR_044110
37RYR2p.Val4880AlaVAR_044111
38RYR2p.Asn4895AspVAR_044112
39RYR2p.Glu4950LysVAR_044113

Clinvar genetic disease variations for Ventricular Tachycardia, Catecholaminergic Polymorphic, 1:

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

Expression for genes affiliated with Ventricular Tachycardia, Catecholaminergic Polymorphic, 1

About this section
Expression patterns in normal tissues for genes affiliated with Ventricular Tachycardia, Catecholaminergic Polymorphic, 1

Search GEO for disease gene expression data for Ventricular Tachycardia, Catecholaminergic Polymorphic, 1.

Pathways for genes affiliated with Ventricular Tachycardia, Catecholaminergic Polymorphic, 1

About this section

Pathways related to Ventricular Tachycardia, Catecholaminergic Polymorphic, 1 according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Show member pathways
9.4RYR2, CALM1
2
Show member pathways
9.4RYR2, CALM1
3
Show member pathways
9.4CALM1, RYR2
4
Show member pathways
9.4CALM1, RYR2
59.4CALM1, RYR2
69.4RYR2, CALM1
7
Show member pathways
9.3RYR2, TRDN
89.1RYR2, CASQ2
9
Show member pathways
Calcium Regulation in the Cardiac Cell37
8.6RYR2, CASQ2, CALM1

Compounds for genes affiliated with Ventricular Tachycardia, Catecholaminergic Polymorphic, 1

About this section

Compounds related to Ventricular Tachycardia, Catecholaminergic Polymorphic, 1 according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1caffeine44 28 2 50 24 1114.3RYR2, TRDN
2ruthenium449.2TRDN, RYR2
3ryanodine44 28 6110.5CASQ2, TRDN, RYR2
4calcium44 50 24 1110.7RYR2, CALM1, CASQ2, TRDN

GO Terms for genes affiliated with Ventricular Tachycardia, Catecholaminergic Polymorphic, 1

About this section

Cellular components related to Ventricular Tachycardia, Catecholaminergic Polymorphic, 1 according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1Z discGO:0300189.1RYR2, CASQ2
2sarcoplasmic reticulum lumenGO:0330188.9CASQ2, TRDN
3voltage-gated calcium channel complexGO:0058918.7TRDN, CASQ2
4junctional sarcoplasmic reticulum membraneGO:0147018.7RYR2, TRDN, CASQ2
5calcium channel complexGO:0347048.6CASQ2, TRDN, RYR2
6sarcoplasmic reticulum membraneGO:0330178.6CASQ2, TRDN, RYR2
7sarcoplasmic reticulumGO:0165298.5CASQ2, TRDN, RYR2

Biological processes related to Ventricular Tachycardia, Catecholaminergic Polymorphic, 1 according to GeneCards/GeneDecks:

(show all 13)
idNameGO IDScoreTop Affiliating Genes
1release of sequestered calcium ion into cytosol by sarcoplasmic reticulumGO:0148089.6TRDN, RYR2
2Purkinje myocyte to ventricular cardiac muscle cell signalingGO:0860299.4CASQ2, RYR2
3cellular response to caffeineGO:0713139.4RYR2, CASQ2
4cellular calcium ion homeostasisGO:0068749.3RYR2, TRDN
5regulation of cell communication by electrical couplingGO:0106499.3CASQ2, TRDN
6detection of calcium ionGO:0055139.3RYR2, CASQ2
7negative regulation of ryanodine-sensitive calcium-release channel activityGO:0603159.2CASQ2, TRDN
8regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ionGO:0108819.2CASQ2, RYR2
9regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulumGO:0108809.1CASQ2, TRDN
10regulation of heart rateGO:0020279.1CASQ2, RYR2
11cardiac muscle contractionGO:0600489.0RYR2, CASQ2
12ion transmembrane transportGO:0342208.7CASQ2, RYR2, TRDN
13transmembrane transportGO:0550858.2TRDN, RYR2, CASQ2

Molecular functions related to Ventricular Tachycardia, Catecholaminergic Polymorphic, 1 according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1ion channel bindingGO:0443259.3RYR2, TRDN

Products for genes affiliated with Ventricular Tachycardia, Catecholaminergic Polymorphic, 1

About this section
  • Antibodies
  • Proteins
  • Lysates

Sources for Ventricular Tachycardia, Catecholaminergic Polymorphic, 1

About this section
3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet