Details of Disease

General Information of Disease (ID: DIS9AWAE)

Disease Name Catecholaminergic polymorphic ventricular tachycardia 2
Synonyms
ventricular tachycardia, catecholaminergic polymorphic, 2; CPVT2; ventricular tachycardia, stress-induced polymorphic; catecholaminergic polymorphic ventricular tachycardia 2; CASQ2 catecholaminergic polymorphic ventricular tachycardia; catecholaminergic polymorphic ventricular tachycardia caused by mutation in CASQ2; CVPT2; catecholaminergic polymorphic ventricular tachycardia type 2; ventricular tachycardia, catecholaminergic polymorphic, type 2
Definition Any catecholaminergic polymorphic ventricular tachycardia in which the cause of the disease is a mutation in the CASQ2 gene.
Disease Hierarchy
DISSAS1A: Catecholaminergic polymorphic ventricular tachycardia
DIS9AWAE: Catecholaminergic polymorphic ventricular tachycardia 2
Disease Identifiers
MONDO ID
MONDO_0012762
MESH ID
C536334
UMLS CUI
C2677794
OMIM ID
611938
MedGen ID
393837

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 2 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
RYR2 OT0PF19E moderate Genetic Variation [1]
CASQ2 OT09MNQ8 Definitive Autosomal recessive [2]
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References

1 Functional abnormalities in iPSC-derived cardiomyocytes generated from CPVT1 and CPVT2 patients carrying ryanodine or calsequestrin mutations.J Cell Mol Med. 2015 Aug;19(8):2006-18. doi: 10.1111/jcmm.12581. Epub 2015 Jul 8.
2 Clinical phenotype and functional characterization of CASQ2 mutations associated with catecholaminergic polymorphic ventricular tachycardia. Circulation. 2006 Sep 5;114(10):1012-9. doi: 10.1161/CIRCULATIONAHA.106.623793. Epub 2006 Aug 14.