phosphoribosylpyrophosphate synthetase superactivity Gene Set

Dataset OMIM Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
Description Phosphoribosylpyrophosphate (PRPP) synthetase superactivity is an X-linked disorder of purine metabolism associated with hyperuricemia and hyperuricosuria, and comprising two forms: an early-onset severe form characterized by gout, urolithiasis, and neurodevelopmental anomalies, and a mild late-onset form with no neurologic involvement. (Orphanet Rare Disease Ontology, Orphanet_3222)
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1 genes associated with the phosphoribosylpyrophosphate synthetase superactivity phenotype from the curated OMIM Gene-Disease Associations dataset.

Symbol Name
PRPS1 phosphoribosyl pyrophosphate synthetase 1