" /> Hyperuricemia, hprt-related - CISMeF





Preferred Label : Hyperuricemia, hprt-related;

Symbol : HRH;

CISMeF acronym : HRH;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Gout, hprt-related; Hprt1 deficiency, partial; Hypoxanthine guanine phosphoribosyltransferase 1 deficiency, partial; Hprt deficiency, partial; Kelley-seegmiller syndrome;

Description : Virtually complete deficiency of HPRT residual activity is associated with the Lesch-Nyhan syndrome (LNS; 300322), whereas partial deficiency (at least 8%) is associated with the Kelley-Seegmiller syndrome. LNS is characterized by abnormal metabolic and neurologic manifestations. In contrast, Kelley-Seegmiller syndrome is usually associated only with the clinical manifestations of excessive purine production. Renal stones, uric acid nephropathy, and renal obstruction are often the presenting symptoms of Kelley-Seegmiller syndrome, but rarely of LNS. After puberty, the hyperuricemia in Kelley-Seegmiller syndrome may cause gout (summary by Zoref-Shani et al., 2000).;

Inheritance : X-linked recessive;

Molecular basis : Caused by mutation in the hypoxanthine phosphoribosyltransferase gene (HPRT1, 308000.0001);

Laboratory abnormalities : Hyperuricemia; Hyperuricosuria;

Prefixed ID : #300323;

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29/07/2025


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