CPVT
MCID: VNT010
MIFTS: 36

Ventricular Tachycardia, Catecholaminergic Polymorphic, 2 (CPVT) malady

Genetic diseases category

Summaries for Ventricular Tachycardia, Catecholaminergic Polymorphic, 2

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MalaCards: Ventricular Tachycardia, Catecholaminergic Polymorphic, 2, also known as bidirectional tachycardia, is related to catecholaminergic polymorphic ventricular tachycardia and sudden cardiac death multi-gene panels, 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 Calcium signaling pathway. The compounds caffeine and ruthenium have been mentioned in the context of this disorder. Related mouse phenotype muscle.

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

Aliases & Classifications for Ventricular Tachycardia, Catecholaminergic Polymorphic, 2

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46OMIM, 48Orphanet, 60UMLS, 57SNOMED-CT via Orphanet, 26ICD10 via Orphanet
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Classifications:

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


Characteristics (Orphanet epidemiological data):

48
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 46
bidirectional tachycardia 48 60
ventricular tachycardia, catecholaminergic polymorphic, 1 60
catecholaminergic polymorphic ventricular tachycardia 48
bidirectional tachycardia induced by catecholamine 48
double tachycardia induced by catecholamines 48
malignant paroxysmal ventricular tachycardia 48
paroxysmal familial ventricular fibrillation 60
multifocal ventricular premature beats 48
paroxysmal ventricular fibrillation 48
syncopal paroxysmal tachycardia 48
syncopal tachyarythmia 48
cpvt 48


External Ids:

SNOMED-CT via Orphanet57 419671004
ICD10 via Orphanet26 I47.2

Related Diseases for Ventricular Tachycardia, Catecholaminergic Polymorphic, 2

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17GeneCards, 18GeneDecks
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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 22)
idRelated DiseaseScoreTop Affiliating Genes
1catecholaminergic polymorphic ventricular tachycardia32.2CASQ2, RYR2
2sudden cardiac death multi-gene panels30.5CASQ2, RYR2
3malignant hyperthermia30.5CALM1, CASQ2, RYR2
4long qt syndrome10.8
5brugada syndrome10.6
6ryr2-related catecholaminergic polymorphic ventricular tachycardia10.5
7casq2-related catecholaminergic polymorphic ventricular tachycardia10.5
8trdn-related catecholaminergic polymorphic ventricular tachycardia10.5
9calm1-related catecholaminergic polymorphic ventricular tachycardia10.5
10ventricular tachycardia, catecholaminergic polymorphic, 110.5
11paroxysmal familial ventricular fibrillation 110.4
12bidirectional tachycardia10.4
13andersen-tawil syndrome10.3
14short qt syndrome10.3
15familial ventricular tachycardia10.3
16long qt syndrome 410.3
17paroxysmal ventricular fibrillation10.3
18ventricular fibrillation, familial, 110.2
19hypokalemic periodic paralysis10.1
20pulmonary embolism10.1
21myopathy10.0CASQ2
22congenital heart defect10.0RYR2, TRDN

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



Diseases related to ventricular tachycardia, catecholaminergic polymorphic, 2

Clinical Features for Ventricular Tachycardia, Catecholaminergic Polymorphic, 2

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46OMIM, 48Orphanet
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Clinical features from OMIM:

611938,614021,614916,604772,615441

Clinical synopsis from OMIM:

611938

Symptoms:

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

Drugs & Therapeutics for Ventricular Tachycardia, Catecholaminergic Polymorphic, 2

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5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials
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Approved drugs:

Search CenterWatch for Ventricular Tachycardia, Catecholaminergic Polymorphic, 2

Drug clinical trials:

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

Search CenterWatch for Ventricular Tachycardia, Catecholaminergic Polymorphic, 2

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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36MGI
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MGI Mouse Phenotypes related to Ventricular Tachycardia, Catecholaminergic Polymorphic, 2:

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

Publications for Ventricular Tachycardia, Catecholaminergic Polymorphic, 2

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Genetic Variations for Ventricular Tachycardia, Catecholaminergic Polymorphic, 2

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62UniProtKB/Swiss-Prot
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Genetic disease variations for Ventricular Tachycardia, Catecholaminergic Polymorphic, 2:

62
id Symbol AA change Variation ID SNP ID
1CASQ2p.Asp307HisVAR_016075
2CASQ2p.Leu167HisVAR_044118
3CASQ2p.Arg33GlnVAR_055234

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

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1BioGPS, 15Gene 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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49PharmGKB, 29KEGG, 53Reactome, 12EMD Millipore, 37NCBI 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
29.3RYR2, CALM1
3
Hide members
9.3RYR2, CALM1
4
Hide members
8.8RYR2, CASQ2, CALM1
5
Hide members
8.5CASQ2, TRDN, RYR2
6
Hide members
8.5RYR2, TRDN, CASQ2

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

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Sources:
44Novoseek, 49PharmGKB, 28IUPHAR, 2BitterDB, 11DrugBank, 24HMDB, 59Tocris Bioscience
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Compounds related to Ventricular Tachycardia, Catecholaminergic Polymorphic, 2 according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1caffeine44 49 28 2 11 2414.0RYR2, TRDN
2ruthenium448.9RYR2, TRDN
3ryanodine44 28 5910.5RYR2, TRDN, CASQ2
4calcium44 49 11 2410.7CALM1, CASQ2, TRDN, RYR2

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

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16Gene 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:0713139.5RYR2, CASQ2
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:0148089.3TRDN, RYR2
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:0342208.8RYR2, 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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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
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet