HRPT-related hyperuricemia (DOID:0112127)
Alliance: disease page
Synonyms: HPRT1 partial deficiency; HPRT deficiency, grade I; HPRT partial deficiency; HPRT-related gout; HPRT-related hyperuricemia; hypoxanthine guanine phosphoribosyltransferase 1 partial deficiency; hypoxanthine guanine phosphoribosyltransferase deficiency, grade I; hypoxanthine guanine phosphoribosyltransferase partial deficiency; Kelley-Seegmiller syndrome
Alt IDs: OMIM:300323, ORDO:79233
Definition: A hyperuricemia characterized by excessive purine production often resulting in renal stones, uric acid nephropathy, and renal obstruction that has_material_basis_in hemizygous mutation in the HPRT1 gene on chromosome Xq26.2-q26.3.