Details of Disease

General Information of Disease (ID: DISQOXW3)

Disease Name Hypertrophic cardiomyopathy 10
Synonyms
cardiomyopathy, hypertrophic, mid-left ventricular chamber type, 2; cardiomyopathy, hypertrophic, 10; hypertrophic cardiomyopathy type 10; CMH10; hypertrophic cardiomyopathy caused by mutation in MYL2; MYL2 hypertrophic cardiomyopathy; cardiomyopathy, familial hypertrophic, type 10; hypertrophic cardiomyopathy 10; cardiomyopathy, familial hypertrophic, 10
Definition Any hypertrophic cardiomyopathy in which the cause of the disease is a mutation in the MYL2 gene.
Disease Hierarchy
DISQG2AI: Hypertrophic cardiomyopathy
DISQ89HN: Familial hypertrophic cardiomyopathy
DISQOXW3: Hypertrophic cardiomyopathy 10
Disease Identifiers
MONDO ID
MONDO_0012112
MESH ID
C563865
UMLS CUI
C1834460
OMIM ID
608758
MedGen ID
331754

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
MYL2 OT78PC0C Definitive Autosomal dominant [1]
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References

1 Technical standards for the interpretation and reporting of constitutional copy-number variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics (ACMG) and the Clinical Genome Resource (ClinGen). Genet Med. 2020 Feb;22(2):245-257. doi: 10.1038/s41436-019-0686-8. Epub 2019 Nov 6.