Hyperuricemia, Hprt-Related (HRH)

Hyperuricemia, Hprt-Related(来自ICD-11)

别称:

Hprt-Related Gout

Kelley-Seegmiller Syndrome

Hprt Deficiency, Partial

Hypoxanthine Guanine Phosphoribosyltransferase 1 Partial Deficiency

Hypoxanthine Guanine Phosphoribosyltransferase Deficiency, Grade I

Hypoxanthine Guanine Phosphoribosyltransferase Partial Deficiency

Partial Hypoxanthine-Guanine Phosphoribosyltransferase Deficiency

Hrpt-Related Hyperuricemia

Hprt-Related Hyperuricemia

Hprt1 Deficiency, Partial

Hprt Deficiency, Grade I

Hprt1 Partial Deficiency

Hprt Partial Deficiency

Gout, Hprt-Related

Hrh

Hypoxanthine Guanine Phosphoribosyltransferase 1 Deficiency, Partial

Hyperuricemia, Hrpt-Related

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Basic Information

Medical Symptom

Gene & Mutation

Related Drugs

Disease Model

References Literature

Hyperuricemia, Hprt-Related, also known as hprt-related gout, is related to disorder of purine metabolism and nephrolithiasis. An important gene associated with Hyperuricemia, Hprt-Related is HPRT1 (Hypoxanthine Phosphoribosyltransferase 1), and among its related pathways/superpathways are Metabolism and Diseases of glycosylation. Affiliated tissues include kidney, and related phenotypes are intellectual disability and nephropathy

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