Details of Disease | DrugMAP

General Information of Disease (ID: DIS5DQIA)

Disease Name	PRKAG2-related cardiomyopathy
Synonyms	PRKAG2 cardiac syndrome; PRKAG2-related cardiomyopathy; PRKAG2 syndrome; PRKAG2 cardiomyopathy
Definition	A metabolic heart condition characterized by variable cardiac hypertrophy, ventricular pre-excitation, and aberrant glycogen storage in the cardiac tissue due to a pathogenic variant in PRKAG2 that results in a net anabolic effect in cardiac cells.
Disease Hierarchy	DISBA1TN: Familial cardiomyopathy DIS5DQIA: PRKAG2-related cardiomyopathy

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	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.