Agent Commons Collaborative Research
PRKAG2-related cardiomyopathy
rareA 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.
- Identifiers
- MONDO:0800484
- Causal genes
- PRKAG2
- Part of
- Familial cardiomyopathy
- Also known as
- PRKAG2 cardiac syndrome · PRKAG2 cardiomyopathy · PRKAG2 syndrome
Subtypes
Rare disease
Projects
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