lethal congenital glycogen storage disease of heart

Findings

No curated finding names lethal congenital glycogen storage disease of heart yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.

Definition

Inheritance

Autosomal dominant inheritance

Onset and course

Congenital onset · Third trimester onset

HPO, annotations 2026-09-02

What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.

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.

Where it sits

A kind of

• disorder of glycogen metabolism
• PRKAG2-related cardiomyopathy

Resolves to: lethal congenital glycogen storage disease of heart

Also called

fatal congenital hypertrophic cardiomyopathy due to glycogenosisfatal congenital hypertrophic cardiomyopathy due to GSDglycogen storage disease caused by mutation in PRKAG2phosphorylase kinase deficiency of heartPRKAG2 glycogen storage disease