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Hypoxanthine guanine phosphoribosyltransferase partial deficiency

Disease definition

Kelley-Seegmiller syndrome (KSS) is the mildest form of hypoxanthine-guanine phosphoribosyltransferase (HPRT) deficiency (see this term), a hereditary disorder of purine metabolism, and is associated with uric acid overproduction (UAO) leading to urolithiasis, and early-onset gout.

ORPHA:79233

  • Synonym(s):
    • HPRT deficiency, grade I
    • HPRT partial deficiency
    • HPRT-related gout
    • HPRT-related hyperuricemia
    • HPRT1 partial deficiency
    • Hypoxanthine guanine phosphoribosyltransferase 1 partial deficiency
    • Hypoxanthine guanine phosphoribosyltransferase deficiency, grade I
    • Kelley-Seegmiller syndrome
  • Prevalence: Unknown
  • Inheritance: X-linked recessive 
  • Age of onset: All ages
  • ICD-10: E79.8
  • OMIM: 300323
  • UMLS: C0268117
  • MeSH: -
  • GARD: -
  • MedDRA: -

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