OBO ID: DOID:0111933
Term Name: phosphoglycerate kinase 1 deficiency Search Ontology:
Synonyms:
  • glycogen storage disease due to phosphoglycerate kinase 1 deficiency
  • glycogenosis due to phosphoglycerate kinase 1 deficiency
  • GSD due to phosphoglycerate kinase 1 deficiency
  • PGK1 deficiency
Definition: 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 the PGK1 gene on chromosome Xq21.1. (3)
References:
Ontology: Human Disease   ( DOID:0111933 )
OTHER phosphoglycerate kinase 1 deficiency PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
PGK1 Phosphoglycerate kinase 1 deficiency 300653
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None