Details of Disease

General Information of Disease (ID: DIS9GQ2Q)

Disease Name Hypertrophic cardiomyopathy 12
Synonyms
cardiomyopathy, familial hypertrophic, 12; cardiomyopathy, hypertrophic, 12; CSRP3 hypertrophic cardiomyopathy; hypertrophic cardiomyopathy 12; cardiomyopathy, familial hypertrophic, type 12; cardiomyopathy familial hypertrophic 12; CMH12; hypertrophic cardiomyopathy type 12; hypertrophic cardiomyopathy caused by mutation in CSRP3
Definition Any hypertrophic cardiomyopathy in which the cause of the disease is a mutation in the CSRP3 gene.
Disease Hierarchy
DISQG2AI: Hypertrophic cardiomyopathy
DISQ89HN: Familial hypertrophic cardiomyopathy
DIS9GQ2Q: Hypertrophic cardiomyopathy 12
Disease Identifiers
MONDO ID
MONDO_0012804
UMLS CUI
C2677491
OMIM ID
612124
MedGen ID
393755

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
CSRP3 OTECBJMV Strong Autosomal dominant [1]
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References

1 Beyond the sarcomere: CSRP3 mutations cause hypertrophic cardiomyopathy. Hum Mol Genet. 2008 Sep 15;17(18):2753-65. doi: 10.1093/hmg/ddn160. Epub 2008 May 27.