MCID: VNT010
MIFTS: 27

Ventricular Tachycardia, Catecholaminergic Polymorphic, 2 malady

Genetic diseases, Cardiovascular diseases, Rare diseases categories

Aliases & Classifications for Ventricular Tachycardia, Catecholaminergic Polymorphic, 2

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Aliases & Descriptions for Ventricular Tachycardia, Catecholaminergic Polymorphic, 2:

Name: Ventricular Tachycardia, Catecholaminergic Polymorphic, 2 49 11 24 67
Stress-Induced Polymorphic Ventricular Tachycardia 67
Malignant Paroxysmal Ventricular Tachycardia 67
Double Tachycardia Induced by Catecholamines 67
Multifocal Ventricular Premature Beats 67
Paroxysmal Ventricular Fibrillation 67
 
Syncopal Paroxysmal Tachycardia 67
Bidirectional Tachycardia 67
Syncopal Tachyarythmia 67
Vtsip 67
Cpvt2 67


Classifications:



External Ids:

OMIM49 611938
MedGen34 C2677794
MeSH36 D017180

Summaries for Ventricular Tachycardia, Catecholaminergic Polymorphic, 2

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UniProtKB/Swiss-Prot:67 Ventricular tachycardia, catecholaminergic polymorphic, 2: An arrhythmogenic disorder characterized by stress-induced, bidirectional ventricular tachycardia that may degenerate into cardiac arrest and cause sudden death. Patients present with recurrent syncope, seizures, or sudden death after physical activity or emotional stress.

MalaCards based summary: Ventricular Tachycardia, Catecholaminergic Polymorphic, 2, also known as stress-induced polymorphic ventricular tachycardia, is related to bidirectional tachycardia and paroxysmal ventricular fibrillation, and has symptoms including autosomal recessive inheritance, seizures and syncope. An important gene associated with Ventricular Tachycardia, Catecholaminergic Polymorphic, 2 is CASQ2 (Calsequestrin 2 (Cardiac Muscle)).

Description from OMIM:49 611938

Related Diseases for Ventricular Tachycardia, Catecholaminergic Polymorphic, 2

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Graphical network of 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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Symptoms by clinical synopsis from OMIM:

611938

Clinical features from OMIM:

611938

HPO human phenotypes related to Ventricular Tachycardia, Catecholaminergic Polymorphic, 2:

id Description Frequency HPO Source Accession
1 autosomal recessive inheritance HP:0000007
2 seizures HP:0001250
3 syncope HP:0001279
4 sudden death HP:0001699
5 ventricular tachycardia HP:0004756

Drugs & Therapeutics for Ventricular Tachycardia, Catecholaminergic Polymorphic, 2

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Interventional clinical trials:

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

Genetic Tests for Ventricular Tachycardia, Catecholaminergic Polymorphic, 2

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Genetic tests related to Ventricular Tachycardia, Catecholaminergic Polymorphic, 2:

id Genetic test Affiliating Genes
1 Ventricular Tachycardia, Catecholaminergic Polymorphic, 224

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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Publications for Ventricular Tachycardia, Catecholaminergic Polymorphic, 2

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Variations for Ventricular Tachycardia, Catecholaminergic Polymorphic, 2

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

67
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:

5
id Gene Variation Type Significance SNP ID Assembly Location
1CASQ2NM_001232.3(CASQ2): c.919G> C (p.Asp307His)single nucleotide variantPathogenicrs121434549GRCh37Chr 1, 116247833: 116247833
2CASQ2NM_001232.3(CASQ2): c.339_354del16 (p.Ser113Argfs)deletionPathogenicrs786205106GRCh37Chr 1, 116283415: 116283430
3CASQ2NM_001232.3(CASQ2): c.500T> A (p.Leu167His)single nucleotide variantPathogenicrs121434550GRCh37Chr 1, 116280877: 116280877
4CASQ2NM_001232.3(CASQ2): c.62delA (p.Glu21Glyfs)deletionPathogenicrs397507555GRCh37Chr 1, 116311101: 116311101
5CASQ2NM_001232.3(CASQ2): c.97C> T (p.Arg33Ter)single nucleotide variantPathogenicrs397507556GRCh37Chr 1, 116311066: 116311066
6CASQ2NM_001232.3(CASQ2): c.578_580delTCAinsAC (p.Ile193Asnfs)indelLikely pathogenicrs397516643GRCh37Chr 1, 116275548: 116275550

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

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

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Sources for Ventricular Tachycardia, Catecholaminergic Polymorphic, 2

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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
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet