PRKAG2-related cardiomyopathy
MONDO:0800484Mondo
Findings
No curated finding names PRKAG2-related cardiomyopathy yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
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.
Definition from the Mondo Disease Ontology (MONDO:0800484), read 2026-09-29. CC BY 4.0.
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- PRKAG2HGNC:9386
- Definitive · ClinGen · Autosomal dominant · 2022
Where it sits
- A kind of
Other names
3 names
Resolves to: PRKAG2-related cardiomyopathy
- Also called
- PRKAG2 cardiac syndromePRKAG2 cardiomyopathyPRKAG2 syndrome