phosphoribosylpyrophosphate synthetase superactivity
Findings
No curated finding names phosphoribosylpyrophosphate synthetase superactivity yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
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).
Definition from the Mondo Disease Ontology (MONDO:0010395), read 2026-09-29. CC BY 4.0.
- Inheritance
- X-linked recessive inheritance
- Onset and course
- Congenital onset · Death in childhood
HPO, annotations 2026-09-02
Features
41 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Convex nasal ridgeHPOHP:0000444
- 1 of 1 reported patient
- CryptorchidismHPOHP:0000028
- 1 of 1 reported patient
- Depressed nasal bridgeHPOHP:0005280
- 1 of 1 reported patient
- Downslanted palpebral fissuresHPOHP:0000494
- 1 of 1 reported patient
- EpicanthusHPOHP:0000286
- 3 of 3 reported patients
- GlaucomaHPOHP:0000501
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- PRPS1HGNC:9462
- Definitive · G2P · X-linked · 2015
- Strong · Labcorp Genetics (formerly Invitae) · X-linked · 2018
- Strong · PanelApp Australia · X-linked · 2025
- Moderate · Natera · X-linked recessive · 2023
- Limited · ClinGen · X-linked · 2020
Where it sits
- A kind of
Other names
4 names
Resolves to: phosphoribosylpyrophosphate synthetase superactivity
- Also called
- gout, PRPS-related, X-linked recessivephosphoribosylpyrophosphate synthetase superactivity, X-linked recessivePRPP synthetase superactivityPRPS1 superactivity