DISEASES

Disease-gene associations mined from literature

Human genes for phosphoglycerate kinase 1 deficiency

Phosphoglycerate kinase 1 deficiency [DOID:0111933]

A glucose metabolism disease characterized by impaired ability to break down glucose resulting in the variable presentation of hemolytic anemia, myopathy, and neurologic anomalies that has_material_basis_in hemizygous or homozygous mutation in PGK1 on chromosome Xq21.1.

Synonyms:  phosphoglycerate kinase 1 deficiency,  DOID:0111933,  glycogenosis due to phosphoglycerate kinase 1 deficiency,  glycogen storage disease due to phosphoglycerate kinase 1 deficiency,  GSD due to phosphoglycerate kinase 1 deficiency ...