Click here to close Hello! We notice that you are using Internet Explorer, which is not supported by Xenbase and may cause the site to display incorrectly. We suggest using a current version of Chrome, FireFox, or Safari.
Summary Literature (0)
DOID:2749 - glycogen storage disease I


Disease Ontology 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.

Synonyms: Glycogen storage disease, type I (disorder); deficiency of glucose-6-phosphatase; glycogen storage disease type I; glycogenosis type I; von Gierke disease; von Gierke's disease

Referenced OMIM:
OMIM:232200 - GLYCOGEN STORAGE DISEASE Ia; GSD1A
OMIM:232220 - GLYCOGEN STORAGE DISEASE Ib; GSD1B
OMIM:232240 - GLYCOGEN STORAGE DISEASE Ic; GSD1C

Human Disease Resources: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee

Xenbase Genes : slc37a4, g6pc.1, g6pc.2, g6pc.3

Other Model Organisms: AGR, MGI, ZFIN, FlyBase, WormBase, RGD
Parent(s): glycogen storage disease (is_a)


Xenbase: The Xenopus laevis and X. tropicalis resource.
Version: 4.11.3


Major funding for Xenbase is provided by grant P41 HD064556