Details of Disease

General Information of Disease (ID: DIS0J29O)

Disease Name Hypertrophic cardiomyopathy 15
Synonyms
cardiomyopathy, familial hypertrophic, 15; VCL hypertrophic cardiomyopathy; hypertrophic cardiomyopathy type 15; cardiomyopathy, familial hypertrophic, type 15; hypertrophic cardiomyopathy caused by mutation in VCL; CMH15; cardiomyopathy, hypertrophic, 15; cardiomyopathy familial hypertrophic 15
Definition Any hypertrophic cardiomyopathy in which the cause of the disease is a mutation in the VCL gene.
Disease Hierarchy
DISQG2AI: Hypertrophic cardiomyopathy
DISQ89HN: Familial hypertrophic cardiomyopathy
DIS0J29O: Hypertrophic cardiomyopathy 15
Disease Identifiers
MONDO ID
MONDO_0013200
UMLS CUI
C2750459
OMIM ID
613255
MedGen ID
413312

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
VCL OTPQ0JYS Limited Autosomal dominant [1]
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References

1 Classification of Genes: Standardized Clinical Validity Assessment of Gene-Disease Associations Aids Diagnostic Exome Analysis and Reclassifications. Hum Mutat. 2017 May;38(5):600-608. doi: 10.1002/humu.23183. Epub 2017 Feb 13.