DISEASES

Disease-gene associations mined from literature

Human genes for glycogen storage disease IXa

Glycogen storage disease IXa [DOID:0111042]

A glycogen storage disease IX characterized by hepatomegaly, growth retardation, elevation of glutamate-pyruvate transaminase and glutamate-oxaloacetate transaminase, hypercholesterolemia, hypertriglyceridemia, and fasting hyperketosis, but symptoms gradually disappear with age, that has_material_basis_in X-linked inheritance of mutation in the PHKA2 gene on chromosome Xp22.

Synonyms:  glycogen storage disease IXa,  DOID:0111042,  glycogen storage disease IXas,  GSD type 9A,  GSD type IXa ...