Summary Literature (0)

DOID:0111260 - phosphoribosylpyrophosphate synthetase superactivity

Disease Ontology Definition:An inherited metabolic disorder characterized by increased synthesis of phosphoribosylpyrophosphate resulting in increased production of uric acid and purine that has_material_basis_in X-linked recessive inheritance of mutations in PRPS1 on Xq22.3 that result in increased activity of the gene. The mild form of the disease has late-juvenile or early adult onset while the more severe form has infantile or early-childhood onset.

Synonyms: PRPP synthetase superactivity, PRPS1 superactivity,

Xenbase Genes : prps1



Other Model Organisms: AGR, MGI, ZFIN, FlyBase, WormBase, RGD

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee