Details of Disease

General Information of Disease (ID: DIS0VJ91)

Disease Name Hypertrophic cardiomyopathy 8
Synonyms
CMH8; cardiomyopathy, hypertrophic, mid-left ventricular chamber type, 1; hypertrophic cardiomyopathy caused by mutation in MYL3; cardiomyopathy, familial hypertrophic, type 8; hypertrophic cardiomyopathy type 8; cardiomyopathy, hypertrophic, 8; MYL3 hypertrophic cardiomyopathy; cardiomyopathy hypertrophic mid-left ventricular chamber type 1; cardiomyopathy, familial hypertrophic, 8; hypertrophic cardiomyopathy 8
Definition Any hypertrophic cardiomyopathy in which the cause of the disease is a mutation in the MYL3 gene.
Disease Hierarchy
DISQG2AI: Hypertrophic cardiomyopathy
DISQ89HN: Familial hypertrophic cardiomyopathy
DIS0VJ91: Hypertrophic cardiomyopathy 8
Disease Identifiers
MONDO ID
MONDO_0012111
MESH ID
C563866
UMLS CUI
C1837471
OMIM ID
608751
MedGen ID
324806

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
MYL3 OTKD3RSX Definitive Autosomal dominant [1]
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References

1 Results of clinical genetic testing of 2,912 probands with hypertrophic cardiomyopathy: expanded panels offer limited additional sensitivity. Genet Med. 2015 Nov;17(11):880-8. doi: 10.1038/gim.2014.205. Epub 2015 Jan 22.