Disease

lethal congenital glycogen storage disease of heart

Definition

A glycogen storage disease characterized by glycogenosis confined to the heart, hypoglycemia and cyanosis, and has_material_basis_in autosomal dominant inheritance of heterozygous mutation in the gene encoding the noncatalytic gamma-2 subunit of AMP-activated protein kinase (PRKAG2) on chromosome 7q36.

Synonyms

fatal congenital hypertrophic cardiomyopathy due to glycogenosis
fatal congenital hypertrophic cardiomyopathy due to GSD

Cross References

Parent Terms

Child Terms

None

Sources of Associations

Associated Genes

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Associated Alleles

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Associated Models

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