DISEASES

Disease-gene associations mined from literature

Human genes for lethal congenital glycogen storage disease of heart

Lethal congenital glycogen storage disease of heart [DOID:0090101]

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:  lethal congenital glycogen storage disease of heart,  DOID:0090101,  lethal congenital glycogen storage disease of hearts,  fatal congenital hypertrophic cardiomyopathy due to GSD,  fatal congenital hypertrophic cardiomyopathy due to glycogenosis ...