hprt-related gout Gene Set

Dataset OMIM Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
Description 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. (Orphanet Rare Disease Ontology, Orphanet_79233)
External Link http://www.omim.org/entry/300323
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Genes

1 genes associated with the hprt-related gout phenotype from the curated OMIM Gene-Disease Associations dataset.

Symbol Name
HPRT1 hypoxanthine phosphoribosyltransferase 1