MCID: VNT010
MIFTS: 28

Ventricular Tachycardia, Catecholaminergic Polymorphic, 2

Categories: Genetic diseases, Cardiovascular diseases, Rare diseases

Aliases & Classifications for Ventricular Tachycardia, Catecholaminergic Polymorphic, 2

MalaCards integrated aliases for Ventricular Tachycardia, Catecholaminergic Polymorphic, 2:

Name: Ventricular Tachycardia, Catecholaminergic Polymorphic, 2 54 71 29 13
Stress-Induced Polymorphic Ventricular Tachycardia 71 69
Bidirectional Tachycardia 71 69
Ventricular Tachycardia, Catecholaminergic Polymorphic, 1 69
Catecholaminergic Polymorphic Ventricular Tachycardia 2 12
Double Tachycardia Induced by Catecholamines 71
Malignant Paroxysmal Ventricular Tachycardia 71
Paroxysmal Familial Ventricular Fibrillation 69
Multifocal Ventricular Premature Beats 71
Multifocal Premature Ventricular Beats 69
Paroxysmal Ventricular Fibrillation 71
Syncopal Paroxysmal Tachycardia 71
Syncopal Tachyarythmia 71
Multifocal Pvcs 69
Cvpt2 12
Vtsip 71
Cpvt2 71

Characteristics:

OMIM:

54
Inheritance:
autosomal recessive


HPO:

32
ventricular tachycardia, catecholaminergic polymorphic, 2:
Inheritance autosomal recessive inheritance
Mortality/Aging sudden death


Classifications:



Summaries for Ventricular Tachycardia, Catecholaminergic Polymorphic, 2

UniProtKB/Swiss-Prot : 71 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. CPVT2 inheritance is autosomal recessive.

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 ventricular tachycardia. An important gene associated with Ventricular Tachycardia, Catecholaminergic Polymorphic, 2 is CASQ2 (Calsequestrin 2).

Disease Ontology : 12 A catecholaminergic polymorphic ventricular tachycardia that is characterized by autosomal recessive inheritance and has material basis in homozygous or compound heterozygous mutation in the CASQ2 gene on chromosome 1p13

Description from OMIM: 611938

Related Diseases for Ventricular Tachycardia, Catecholaminergic Polymorphic, 2

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



Diseases related to Ventricular Tachycardia, Catecholaminergic Polymorphic, 2

Symptoms & Phenotypes for Ventricular Tachycardia, Catecholaminergic Polymorphic, 2

Symptoms via clinical synopsis from OMIM:

54

Neurologic- Central Nervous System:
seizures

Cardiovascular- Heart:
sudden death
bradycardia, relative resting
syncope
polymorphic ventricular tachycardia induced by physical activity, stress, or catecholamine infusion


Clinical features from OMIM:

611938

Human phenotypes related to Ventricular Tachycardia, Catecholaminergic Polymorphic, 2:

32
id Description HPO Frequency HPO Source Accession
1 seizures 32 HP:0001250
2 syncope 32 HP:0001279
3 ventricular tachycardia 32 HP:0004756

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


seizures, syncope

Drugs & Therapeutics for Ventricular Tachycardia, Catecholaminergic Polymorphic, 2

Interventional clinical trials:


id Name Status NCT ID Phase Drugs
1 Renal Nerve Stimulation and Renal Denervation in Patients With Sympathetic Ventricular Arrhythmias Recruiting NCT02856373 Phase 2

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

Genetic Tests for Ventricular Tachycardia, Catecholaminergic Polymorphic, 2

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

id Genetic test Affiliating Genes
1 Ventricular Tachycardia, Catecholaminergic Polymorphic, 2 29

Anatomical Context for Ventricular Tachycardia, Catecholaminergic Polymorphic, 2

Publications for Ventricular Tachycardia, Catecholaminergic Polymorphic, 2

Variations for Ventricular Tachycardia, Catecholaminergic Polymorphic, 2

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

71
id Symbol AA change Variation ID SNP ID
1 CASQ2 p.Asp307His VAR_016075 rs121434549
2 CASQ2 p.Leu167His VAR_044118 rs121434550
3 CASQ2 p.Arg33Gln VAR_055234 rs749547712
4 CASQ2 p.Lys180Arg VAR_076546

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

6
id Gene Variation Type Significance SNP ID Assembly Location
1 CASQ2 NM_001232.3(CASQ2): c.919G> C (p.Asp307His) single nucleotide variant Pathogenic rs121434549 GRCh37 Chromosome 1, 116247833: 116247833
2 CASQ2 NM_001232.3(CASQ2): c.339_354del16 (p.Ser113Argfs) deletion Pathogenic rs786205106 GRCh37 Chromosome 1, 116283415: 116283430
3 CASQ2 NM_001232.3(CASQ2): c.500T> A (p.Leu167His) single nucleotide variant Pathogenic rs121434550 GRCh37 Chromosome 1, 116280877: 116280877
4 CASQ2 NM_001232.3(CASQ2): c.62delA (p.Glu21Glyfs) deletion Pathogenic rs397507555 GRCh37 Chromosome 1, 116311101: 116311101
5 CASQ2 NM_001232.3(CASQ2): c.97C> T (p.Arg33Ter) single nucleotide variant Pathogenic rs397507556 GRCh37 Chromosome 1, 116311066: 116311066
6 CASQ2 NM_001232.3(CASQ2): c.539A> G (p.Lys180Arg) single nucleotide variant Pathogenic rs886039816 GRCh37 Chromosome 1, 116275589: 116275589
7 CASQ2 NM_001232.3(CASQ2): c.783G> A (p.Trp261Ter) single nucleotide variant Likely pathogenic rs776874142 GRCh37 Chromosome 1, 116268129: 116268129
8 CASQ2 NM_001232.3(CASQ2): c.164A> G (p.Tyr55Cys) single nucleotide variant Likely pathogenic GRCh37 Chromosome 1, 116310999: 116310999
9 RYR2 NM_001035.2(RYR2): c.11996T> C (p.Met3999Thr) single nucleotide variant Likely pathogenic GRCh38 Chromosome 1, 237783708: 237783708

Expression for Ventricular Tachycardia, Catecholaminergic Polymorphic, 2

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

Pathways for Ventricular Tachycardia, Catecholaminergic Polymorphic, 2

GO Terms for Ventricular Tachycardia, Catecholaminergic Polymorphic, 2

Sources for Ventricular Tachycardia, Catecholaminergic Polymorphic, 2

3 CDC
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16 ExPASy
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34 ICD10 via Orphanet
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59 PubMed
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65 SNOMED-CT via HPO
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67 TGDB
68 Tocris
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70 UMLS via Orphanet
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