Hprt-Related Gout malady
Categories: Genetic diseases, Neuronal diseases, Nephrological diseases, Metabolic diseases, Blood diseases, Rare diseases, Bone diseases
Aliases & Descriptions for Hprt-Related Gout:
Orphanet epidemiological data:52
Inheritance: X-linked recessive; Age of onset: All ages; Age of death: normal life expectancy
Inheritance: x-linked recessive inheritance
Global: Genetic diseases, Metabolic diseases, Rare diseases
Anatomical: Neuronal diseases, Nephrological diseases, Blood diseases, Bone diseases
Rare neurological diseases
Rare renal diseases
Inborn errors of metabolism
Rare haematological diseases
OMIM:50 Virtually complete deficiency of HPRT residual activity is associated with the Lesch-Nyhan syndrome (LNS; 300322),... (300323) more...
MalaCards based summary: Hprt-Related Gout, also known as kelley-seegmiller syndrome, is related to gout, hprt1-related and lesch-nyhan syndrome, and has symptoms including renal insufficiency, nephrolithiasis and podagra. An important gene associated with Hprt-Related Gout is HPRT1 (Hypoxanthine Phosphoribosyltransferase 1), and among its related pathways are Pyrimidine metabolism (KEGG) and Purine metabolism.
UniProtKB/Swiss-Prot:68 Gout HPRT-related: Characterized by partial enzyme activity and hyperuricemia.
Diseases in the Gout family:
Diseases related to Hprt-Related Gout via text searches within MalaCards or GeneCards Suite gene sharing:
Graphical network of diseases related to Hprt-Related Gout:
Genetic tests related to Hprt-Related Gout:
UniProtKB/Swiss-Prot genetic disease variations for Hprt-Related Gout:68 (show all 27)
Clinvar genetic disease variations for Hprt-Related Gout:5 (show all 16)
Search GEO for disease gene expression data for Hprt-Related Gout.
Pathways related to Hprt-Related Gout according to GeneCards Suite gene sharing:
Biological processes related to Hprt-Related Gout according to GeneCards Suite gene sharing:
29ICD10 via Orphanet
38MESH via Orphanet
51OMIM via Orphanet
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
67UMLS via Orphanet