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GENATLAS PHENOTYPE
last update : 3/07/2006
Symbol GHPR
Location Xq26.3
Name gout, HPRT-related
Other name(s)
  • Kelley-Seegmiller syndrome
  • HPRT1 partial deficiency
  • hypoxanthine guanine phosphoribosyltransferase 1 deficiency, partial
  • Corresponding gene HPRT1
    Main clinical features
  • clinical manifestations of excessive purine production, renal stones, uric acid nephropathy, and renal obstruction
  • Genetic determination sex linked
    Function/system disorder metabolism/purine or pyrimidine
    Type disease
    Gene product
    Name hypoxanthine guanine phosphoribosyl transferase 1
    Remark(s) mutation in the HPRT gene associated to complete deficiency of erythrocyte activity, with hyperuricemia and gout but without Lesch-Nyhan disease