| Dataset | CTD Gene-Disease Associations |
| Category | disease or phenotype associations |
| Type | disease |
| 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) |
| External Link | http://ctdbase.org/detail.go?type=disease&acc=MESH:C567064 |
| Similar Terms | |
| Downloads & Tools |
1 genes/proteins associated with the disease Phosphoribosylpyrophosphate Synthetase Superactivity from the curated CTD Gene-Disease Associations dataset.
| Symbol | Name | Standardized Value |
|---|---|---|
| PRPS1 | phosphoribosyl pyrophosphate synthetase 1 | 2.88009 |
