OBO ID: DOID:2749
Term Name: glycogen storage disease I Search Ontology:
Synonyms:
  • deficiency of glucose-6-phosphatase
  • glycogen storage disease type I
  • Glycogen storage disease, type I
  • glycogenosis type I
  • von Gierke disease
  • von Gierke's disease
Definition: A glycogen storage disease that has_material_basis_in deficiency of the glucose-6-phosphatase enzyme which impairs the ability of the liver to produce free glucose from glycogen and from gluconeogenesis and is characterized by accumulation of glycogen and fat in the liver and kidneys, resulting in hepatomegaly and renomegaly. (3)
References:
Ontology: Human Disease   (DOID:2749)
OTHER glycogen storage disease I PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
G6PC1 Glycogen storage disease Ia 232200
SLC37A4 Glycogen storage disease Ic 232240
Glycogen storage disease Ib 232220
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None