CPVT
MCID: VNT010
MIFTS: 37

Ventricular Tachycardia, Catecholaminergic Polymorphic, 2 (CPVT) malady

Genetic diseases, Rare diseases categories

Summaries for Ventricular Tachycardia, Catecholaminergic Polymorphic, 2

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48OMIM, 34MalaCards
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MalaCards: Ventricular Tachycardia, Catecholaminergic Polymorphic, 2, also known as bidirectional 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, 2 is CASQ2 (calsequestrin 2 (cardiac muscle)), and among its related pathways are Antiarrhythmic Pathway, Pharmacodynamics and Adrenergic signaling in cardiomyocytes. The compounds caffeine and ruthenium have been mentioned in the context of this disorder. Related mouse phenotype muscle.

Description from OMIM:48 611938,614021,614916,604772,615441

Aliases & Classifications for Ventricular Tachycardia, Catecholaminergic Polymorphic, 2

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50Orphanet, 63UMLS, 48OMIM, 60SNOMED-CT via Orphanet, 27ICD10 via Orphanet
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Classifications:

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


Characteristics (Orphanet epidemiological data):

50
bidirectional tachycardia:
Inheritance: Autosomal dominant,Autosomal recessive; Prevalence: 1-5/10000; Age of onset: Childhood; Age of death: Any age


Aliases & Descriptions:

ventricular tachycardia, catecholaminergic polymorphic, 2 48
bidirectional tachycardia 50 63
ventricular tachycardia, catecholaminergic polymorphic, 1 63
catecholaminergic polymorphic ventricular tachycardia 50
bidirectional tachycardia induced by catecholamine 50
malignant paroxysmal ventricular tachycardia 50
double tachycardia induced by catecholamines 50
paroxysmal familial ventricular fibrillation 63
multifocal ventricular premature beats 50
paroxysmal ventricular fibrillation 50
syncopal paroxysmal tachycardia 50
syncopal tachyarythmia 50
cpvt 50


External Ids:

SNOMED-CT via Orphanet60 419671004
ICD10 via Orphanet27 I47.2

Related Diseases for Ventricular Tachycardia, Catecholaminergic Polymorphic, 2

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18GeneCards, 19GeneDecks
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Diseases in the Ventricular Tachycardia, Catecholaminergic Polymorphic, 2 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, 1
Ventricular Tachycardia, Catecholaminergic Polymorphic, 3 Ventricular Tachycardia, Catecholaminergic Polymorphic, 4

Diseases related to Ventricular Tachycardia, Catecholaminergic Polymorphic, 2 via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show all 21)
idRelated DiseaseScoreTop Affiliating Genes
1catecholaminergic polymorphic ventricular tachycardia32.3CASQ2, RYR2
2malignant hyperthermia30.5RYR2, CASQ2, CALM1
3bidirectional tachycardia10.9
4long qt syndrome10.8
5paroxysmal ventricular fibrillation10.8
6syncope10.7
7brugada syndrome10.6
8ryr2-related catecholaminergic polymorphic ventricular tachycardia10.5
9casq2-related catecholaminergic polymorphic ventricular tachycardia10.5
10trdn-related catecholaminergic polymorphic ventricular tachycardia10.5
11calm1-related catecholaminergic polymorphic ventricular tachycardia10.5
12ventricular tachycardia, catecholaminergic polymorphic, 110.5
13andersen-tawil syndrome10.4
14short qt syndrome10.4
15familial ventricular tachycardia10.4
16long qt syndrome 410.4
17ventricular fibrillation, familial, 110.2
18hypokalemic periodic paralysis10.1
19pulmonary embolism10.1
20sudden cardiac death multi-gene panels10.0RYR2, CASQ2
21congenital heart disease10.0RYR2, TRDN

Graphical network of the top 20 diseases related to Ventricular Tachycardia, Catecholaminergic Polymorphic, 2:



Diseases related to ventricular tachycardia, catecholaminergic polymorphic, 2

Symptoms for Ventricular Tachycardia, Catecholaminergic Polymorphic, 2

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48OMIM, 50Orphanet
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Symptoms by clinical synopsis from OMIM:

611938

Clinical features from OMIM:

611938,614021,614916,604772,615441

Symptoms:

50
  • cardiac rhythm disorder/arrhythmia
  • dizziness
  • collapse/sudden death/cardiac arrest/cardiorespiratory arrest

Drugs & Therapeutics for Ventricular Tachycardia, Catecholaminergic Polymorphic, 2

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6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials
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Approved drugs:

Search CenterWatch for Ventricular Tachycardia, Catecholaminergic Polymorphic, 2

Drug clinical trials:

Search ClinicalTrials for Ventricular Tachycardia, Catecholaminergic Polymorphic, 2

Search NIH Clinical Center for Ventricular Tachycardia, Catecholaminergic Polymorphic, 2

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Genetic Tests for Ventricular Tachycardia, Catecholaminergic Polymorphic, 2

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Anatomical Context for Ventricular Tachycardia, Catecholaminergic Polymorphic, 2

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Animal Models for Ventricular Tachycardia, Catecholaminergic Polymorphic, 2 or affiliated genes

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38MGI
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MGI Mouse Phenotypes related to Ventricular Tachycardia, Catecholaminergic Polymorphic, 2:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053698.5RYR2, TRDN, CASQ2

Publications for Ventricular Tachycardia, Catecholaminergic Polymorphic, 2

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Variations for Ventricular Tachycardia, Catecholaminergic Polymorphic, 2

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65UniProtKB/Swiss-Prot, 1 National Center for Biotechnology Information (Clinvar)
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UniProtKB/Swiss-Prot genetic disease variations for Ventricular Tachycardia, Catecholaminergic Polymorphic, 2:

65
id Symbol AA change Variation ID SNP ID
1CASQ2p.Asp307HisVAR_016075
2CASQ2p.Leu167HisVAR_044118
3CASQ2p.Arg33GlnVAR_055234

Clinvar genetic disease variations for Ventricular Tachycardia, Catecholaminergic Polymorphic, 2:

1 (show all 15)
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
13CASQ2NM_001232.3(CASQ2): c.62delA (p.Glu21Glyfs)deletionPathogenicrs397507555GRCh37Chr 1, 116311101: 116311101
14CASQ2NM_001232.3(CASQ2): c.97C> T (p.Arg33Ter)single nucleotide variantPathogenicrs397507556GRCh37Chr 1, 116311066: 116311066
15SCN5ANM_000335.4(SCN5A): c.5126C> T (p.Ser1709Leu)single nucleotide variantPathogenicrs137854604GRCh37Chr 3, 38592734: 38592734

Expression for genes affiliated with Ventricular Tachycardia, Catecholaminergic Polymorphic, 2

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2BioGPS, 16Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Ventricular Tachycardia, Catecholaminergic Polymorphic, 2

Search GEO for disease gene expression data for Ventricular Tachycardia, Catecholaminergic Polymorphic, 2.

Pathways for genes affiliated with Ventricular Tachycardia, Catecholaminergic Polymorphic, 2

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Sources:
51PathCards, 52PharmGKB, 31KEGG, 56Reactome, 61Thomson Reuters, 54QIAGEN, 39NCBI BioSystems Database
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Pathways related to Ventricular Tachycardia, Catecholaminergic Polymorphic, 2 according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.3RYR2, CASQ2
29.3CALM1, RYR2
39.3CALM1, RYR2
4
Show member pathways
9.3RYR2, CALM1
5
Show member pathways
9.3RYR2, CALM1
6
Show member pathways
9.3RYR2, CALM1
7
Show member pathways
9.3RYR2, CALM1
8
Show member pathways
9.0RYR2, TRDN
9
Show member pathways
Calcium Regulation in the Cardiac Cell39
8.8RYR2, CASQ2, CALM1

Compounds for genes affiliated with Ventricular Tachycardia, Catecholaminergic Polymorphic, 2

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46Novoseek, 30IUPHAR, 3BitterDB, 52PharmGKB, 25HMDB, 12DrugBank, 62Tocris Bioscience
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Compounds related to Ventricular Tachycardia, Catecholaminergic Polymorphic, 2 according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1caffeine46 30 3 52 25 1214.0RYR2, TRDN
2ruthenium468.9RYR2, TRDN
3ryanodine46 30 6210.5RYR2, TRDN, CASQ2
4calcium46 52 25 1210.7CALM1, CASQ2, TRDN, RYR2

GO Terms for genes affiliated with Ventricular Tachycardia, Catecholaminergic Polymorphic, 2

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17Gene Ontology
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Cellular components related to Ventricular Tachycardia, Catecholaminergic Polymorphic, 2 according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1Z discGO:0300189.3RYR2, CASQ2
2sarcoplasmic reticulum lumenGO:0330189.0TRDN, CASQ2
3voltage-gated calcium channel complexGO:0058918.8TRDN, CASQ2
4junctional sarcoplasmic reticulum membraneGO:0147018.7RYR2, TRDN, CASQ2
5calcium channel complexGO:0347048.6RYR2, TRDN, CASQ2
6sarcoplasmic reticulum membraneGO:0330178.6CASQ2, TRDN, RYR2
7sarcoplasmic reticulumGO:0165298.5CASQ2, TRDN, RYR2

Biological processes related to Ventricular Tachycardia, Catecholaminergic Polymorphic, 2 according to GeneCards/GeneDecks:

(show all 13)
idNameGO IDScoreTop Affiliating Genes
1Purkinje myocyte to ventricular cardiac muscle cell signalingGO:0860299.6RYR2, CASQ2
2cellular response to caffeineGO:0713139.6CASQ2, RYR2
3detection of calcium ionGO:0055139.5CASQ2, RYR2
4regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ionGO:0108819.4RYR2, CASQ2
5regulation of cell communication by electrical couplingGO:0106499.4TRDN, CASQ2
6regulation of heart rateGO:0020279.3RYR2, CASQ2
7negative regulation of ryanodine-sensitive calcium-release channel activityGO:0603159.3TRDN, CASQ2
8release of sequestered calcium ion into cytosol by sarcoplasmic reticulumGO:0148089.3RYR2, TRDN
9regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulumGO:0108809.2TRDN, CASQ2
10cardiac muscle contractionGO:0600489.2CASQ2, RYR2
11cellular calcium ion homeostasisGO:0068749.0RYR2, TRDN
12ion transmembrane transportGO:0342208.7RYR2, TRDN, CASQ2
13transmembrane transportGO:0550858.2RYR2, TRDN, CASQ2

Molecular functions related to Ventricular Tachycardia, Catecholaminergic Polymorphic, 2 according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1ion channel bindingGO:0443259.0RYR2, TRDN

Products for genes affiliated with Ventricular Tachycardia, Catecholaminergic Polymorphic, 2

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Sources for Ventricular Tachycardia, Catecholaminergic Polymorphic, 2

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4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
30IUPHAR
31KEGG
36MeSH
37MESH via Orphanet
38MGI
41NCIt
42NDF-RT
45NINDS
46Novoseek
48OMIM
49OMIM via Orphanet
53PubMed
54QIAGEN
60SNOMED-CT via Orphanet
63UMLS
64UMLS via Orphanet