Details of Disease

General Information of Disease (ID: DISH2941)

Disease Name Hypertrophic cardiomyopathy 17
Synonyms
cardiomyopathy, familial hypertrophic, 17; cardiomyopathy familial hypertrophic 17; hypertrophic cardiomyopathy type 17; hypertrophic cardiomyopathy caused by mutation in JPH2; JPH2 hypertrophic cardiomyopathy; cardiomyopathy, familial hypertrophic, type 17; cardiomyopathy, hypertrophic, 17; CMH17
Definition Any hypertrophic cardiomyopathy in which the cause of the disease is a mutation in the JPH2 gene.
Disease Hierarchy
DISQG2AI: Hypertrophic cardiomyopathy
DISQ89HN: Familial hypertrophic cardiomyopathy
DISH2941: Hypertrophic cardiomyopathy 17
Disease Identifiers
MONDO ID
MONDO_0013474
UMLS CUI
C3151264
OMIM ID
613873
MedGen ID
462614

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 1 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
JPH2 OTL9YH7V Strong Autosomal dominant [1]
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References

1 Mutations in JPH2-encoded junctophilin-2 associated with hypertrophic cardiomyopathy in humans. J Mol Cell Cardiol. 2007 Jun;42(6):1026-35. doi: 10.1016/j.yjmcc.2007.04.006. Epub 2007 Apr 18.