Ventricular tachycardia, catecholaminergic polymorphic, 2

Preferred Label : Ventricular tachycardia, catecholaminergic polymorphic, 2;

Symbol : CPVT2;

CISMeF acronym : CPVT2; VTSIP;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Ventricular tachycardia, stress-induced polymorphic; VTSIP;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the calsequestrin-2 gene (CASQ2, 114251.0002);

Prefixed ID : #611938;

Details

Origin ID

611938;

UMLS CUI

C2677794;

Automatic exact mappings (from CISMeF team)
- ryanodine receptor 2 [ORDO Gene]
Broader ORDO disease(s)
- Catecholaminergic polymorphic ventricular tachycardia [ORDO Disease]
Currated CISMeF NLP mapping
- Catecholaminergic Polymorphic Ventricular Tachycardia Type 2 [NCIt concept]
- catecholaminergic polymorphic ventricular tachycardia 2 [DO Concept]
- catecholaminergic polymorphic ventricular tachycardia 2 [Disease (Nov.)]
- polymorphic catecholergic ventricular tachycardia [MeSH Supplementary Concept]
- stress-induced polymorphic ventricular tachycardia [MeSH concept]
DO Cross reference
- catecholaminergic polymorphic ventricular tachycardia 2 [DO Concept]
Genes related to phenotype
- Calsequestrin 2 [OMIM gene]
HPO term(s)
- Autosomal recessive inheritance [HPO term]
- Bradycardia [HPO term]
- Seizure [HPO term]
- Sudden death [HPO term]
- Syncope [HPO term]
- Ventricular tachycardia [HPO term]
ORDO concept(s)
- Catecholaminergic polymorphic ventricular tachycardia [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Catecholaminergic Polymorphic Ventricular Tachycardia Type 2 [NCIt concept]
- catecholaminergic polymorphic ventricular tachycardia 2 [Disease (Nov.)]
- stress-induced polymorphic ventricular tachycardia [MeSH concept]
Validated automatic mappings to NTBT
- catecholaminergic polymorphic ventricular tachycardia [Disease (Nov.)]

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