Hyperuricemia, hprt-related

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;

Détails

Origin ID

300323;

UMLS CUI

C0268117;

Automatic exact mappings (from CISMeF team)
- homosexuality, male [MeSH Descriptor]
Currated CISMeF NLP mapping
- Hypoxanthine guanine phosphoribosyltransferase partial deficiency [ORDO Disease]
- Kelley-Seegmiller syndrome [ICD-11 More detail]
- Kelley-Seegmiller syndrome [MedDRA LLT]
- Partial hypoxanthine-guanine phosphoribosyltransferase deficiency (disorder) [SNOMED CT concept]
- gout, HPRT-Related [MeSH concept]
- gout, HPRT-Related [MeSH Supplementary Concept]
Genes related to phenotype
- Hypoxanthine guanine phosphoribosyltransferase 1 [OMIM gene]
HPO term(s)
- Hyperuricemia [HPO term]
- Hyperuricosuria [HPO term]
- Nephrolithiasis [HPO term]
- Podagra [HPO term]
- Renal insufficiency [HPO term]
- X-linked recessive inheritance [HPO term]
ORDO concept(s)
- Hypoxanthine guanine phosphoribosyltransferase partial deficiency [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Hypoxanthine guanine phosphoribosyltransferase partial deficiency [ORDO Disease]
- Kelley-Seegmiller syndrome [MedDRA LLT]
- Kelley-Seegmiller syndrome [ICD-11 More detail]
- Partial hypoxanthine-guanine phosphoribosyl transferase deficiency [MedDRA LLT]
- Partial hypoxanthine-guanine phosphoribosyltransferase deficiency (disorder) [SNOMED CT concept]
- gout, HPRT-Related [MeSH Supplementary Concept]
- gout, HPRT-Related [MeSH concept]

Position du mot-clé dans l'(les) arborescence(s) :

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