Details of Disease

General Information of Disease (ID: DISO7LHK)

Disease Name Hypertrophic cardiomyopathy 14
Synonyms
cardiomyopathy, familial hypertrophic, 14; hypertrophic cardiomyopathy type 14; cardiomyopathy familial hypertrophic 14; MYH6 hypertrophic cardiomyopathy; hypertrophic cardiomyopathy caused by mutation in MYH6; CMH14; cardiomyopathy, familial hypertrophic, type 14; cardiomyopathy, hypertrophic, 14
Definition Any hypertrophic cardiomyopathy in which the cause of the disease is a mutation in the MYH6 gene.
Disease Hierarchy
DISQG2AI: Hypertrophic cardiomyopathy
DISQ89HN: Familial hypertrophic cardiomyopathy
DISO7LHK: Hypertrophic cardiomyopathy 14
Disease Identifiers
MONDO ID
MONDO_0013197
MESH ID
C567684
UMLS CUI
C2750467
OMIM ID
613251
MedGen ID
442484

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
MYH6 OT3YNCH1 Strong Autosomal dominant [1]
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References

1 Mutation in myosin heavy chain 6 causes atrial septal defect. Nat Genet. 2005 Apr;37(4):423-8. doi: 10.1038/ng1526. Epub 2005 Feb 27.