lethal congenital glycogen storage disease of heart

Term ID

DOID:0090101

Synonyms

• fatal congenital hypertrophic cardiomyopathy due to glycogenosis
• fatal congenital hypertrophic cardiomyopathy due to GSD
• fatal congenital nonlysosomal cardiac glycogenosis
• phosphorylase kinase deficiency 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. (2)

References

• ICD10CM:E74.0
• ICD10CM:G73.6
• MIM:261740
• ORDO:439854

Ontology

Human Disease   ( DOID:0090101 )