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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