MCID: VNT010
MIFTS: 25

Ventricular Tachycardia, Catecholaminergic Polymorphic, 2 malady

Categories: Genetic diseases, Cardiovascular diseases, Rare diseases

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 50 68 25 12
Stress-Induced Polymorphic Ventricular Tachycardia 68
Malignant Paroxysmal Ventricular Tachycardia 68
Double Tachycardia Induced by Catecholamines 68
Multifocal Ventricular Premature Beats 68
Paroxysmal Ventricular Fibrillation 68
 
Syncopal Paroxysmal Tachycardia 68
Bidirectional Tachycardia 68
Syncopal Tachyarythmia 68
Vtsip 68
Cpvt2 68

Characteristics:

HPO:

62
ventricular tachycardia, catecholaminergic polymorphic, 2:
Inheritance: autosomal recessive inheritance
Mortality/Aging: sudden death


Classifications:



External Ids:

OMIM50 611938
MedGen35 C2677794
MeSH37 D017180

Summaries for Ventricular Tachycardia, Catecholaminergic Polymorphic, 2

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UniProtKB/Swiss-Prot:68 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 paroxysmal ventricular fibrillation and bidirectional tachycardia, and has symptoms including seizures, syncope and seizures. An important gene associated with Ventricular Tachycardia, Catecholaminergic Polymorphic, 2 is CASQ2 (Calsequestrin 2).

Description from OMIM:50 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 seizures HP:0001250
2 syncope HP:0001279
3 ventricular tachycardia HP:0004756

UMLS symptoms related to Ventricular Tachycardia, Catecholaminergic Polymorphic, 2:


seizures, syncope

Drugs & Therapeutics for Ventricular Tachycardia, Catecholaminergic Polymorphic, 2

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Interventional clinical trials:

idNameStatusNCT IDPhase
1Renal Nerve Stimulation and Renal Denervation in Patients With Sympathetic Ventricular ArrhythmiasRecruitingNCT02856373Phase 2

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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, 225

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:

68
id Symbol AA change Variation ID SNP ID
1CASQ2p.Asp307HisVAR_016075rs121434549
2CASQ2p.Leu167HisVAR_044118rs121434550
3CASQ2p.Arg33GlnVAR_055234rs749547712
4CASQ2p.Lys180ArgVAR_076546

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

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
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet