Details of Disease | DrugMAP

General Information of Disease (ID: DIS52OBL)

Disease Name	Hypertrophic cardiomyopathy 6
Synonyms	cardiomyopathy, familial hypertrophic, 6; hypertrophic cardiomyopathy 6; CMH6; cardiomyopathy, familial hypertrophic 6; hypertrophic cardiomyopathy type 6; hypertrophic cardiomyopathy caused by mutation in PRKAG2; PRKAG2 hypertrophic cardiomyopathy; cardiomyopathy, familial hypertrophic, type 6; cardiomyopathy, hypertrophic 6
Definition	Any hypertrophic cardiomyopathy in which the cause of the disease is a mutation in the PRKAG2 gene.
Disease Hierarchy	DIS5DQIA: PRKAG2-related cardiomyopathy DISQG2AI: Hypertrophic cardiomyopathy DISQ89HN: Familial hypertrophic cardiomyopathy DIS52OBL: Hypertrophic cardiomyopathy 6
Disease Identifiers	MONDO ID MONDO_0010946 MESH ID C563436 UMLS CUI C1833236 OMIM ID 600858 MedGen ID 331466

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
PRKAG2	OTHTAM54	Definitive	Autosomal dominant	[1]
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References

1	Integrative Analysis of PRKAG2 Cardiomyopathy iPS and Microtissue Models Identifies AMPK as a Regulator of Metabolism, Survival, and Fibrosis. Cell Rep. 2016 Dec 20;17(12):3292-3304. doi: 10.1016/j.celrep.2016.11.066.