Details of Disease

General Information of Disease (ID: DIS4PP6I)

Disease Name Hypertrophic cardiomyopathy 11
Synonyms
cardiomyopathy, familial hypertrophic, 11; ACTC1 hypertrophic cardiomyopathy; cardiomyopathy, familial hypertrophic, type 11; hypertrophic cardiomyopathy caused by mutation in ACTC1; CMH11; hypertrophic cardiomyopathy type 11; cardiomyopathy, hypertrophic, 11; cardiomyopathy familial hypertrophic 11; hypertrophic cardiomyopathy 11
Definition Any hypertrophic cardiomyopathy in which the cause of the disease is a mutation in the ACTC1 gene.
Disease Hierarchy
DISQG2AI: Hypertrophic cardiomyopathy
DISQ89HN: Familial hypertrophic cardiomyopathy
DIS4PP6I: Hypertrophic cardiomyopathy 11
Disease Identifiers
MONDO ID
MONDO_0012799
MESH ID
C567419
UMLS CUI
C2677506
OMIM ID
612098
MedGen ID
436962

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
ACTC1 OTJU04B1 Definitive Autosomal dominant [1]
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References

1 Inherited and de novo mutations in the cardiac actin gene cause hypertrophic cardiomyopathy. J Mol Cell Cardiol. 2000 Sep;32(9):1687-94. doi: 10.1006/jmcc.2000.1204.