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phosphoribosylpyrophosphate synthetase superactivity

Disease Summary
Associated Targets (1)
Tbio

1


GARD Rare
Mondo Description Phosphoribosylpyrophosphate (PRPP) synthetase superactivity is an X-linked disorder of purine metabolism associated with hyperuricemia and hyperuricosuria, comprised of two forms: an early-onset severe form characterized by gout, urolithiasis, and neurodevelopmental anomalies (severe PRPP synthetase superactivity) and a mild late-onset form with no neurologic involvement (mild PRPP synthetase superactivity).
Uniprot Description Familial disorder characterized by excessive purine production, gout and uric acid urolithiasis.
Mondo Term and Equivalent IDs
MONDO:0010395:  phosphoribosylpyrophosphate synthetase superactivity
DOID:0111260: 
MESH:C567064: 
Orphanet:3222: 
SCTID:723454008: 
UMLS:C1970827: