mild phosphoribosylpyrophosphate synthetase superactivity
Findings
No curated finding names mild phosphoribosylpyrophosphate synthetase superactivity yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Mild phosphoribosylpyrophosphate (PRPP) synthetase superactivity is the mild and late-onset form of PRPP synthetase superactivity, an X-linked disorder of purine metabolism associated with hyperuricemia and hyperuricosuria, leading to urolithiasis and gout. This form is not associated with any neuropathy or central nervous system (CNS) disorders.
Definition from the Mondo Disease Ontology (MONDO:0018463), read 2026-09-29. CC BY 4.0.
Features
10 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.
- HyperuricemiaHPOHP:0002149
- Very frequent (80% to 99% of cases)
- HyperuricosuriaHPOHP:0003149
- Very frequent (80% to 99% of cases)
- Increased phosphoribosylpyrophosphate synthetase levelHPOHP:0003240
- Very frequent (80% to 99% of cases)
- ArthritisHPOHP:0001369
- Frequent (30% to 79% of cases)
- CrystalluriaHPOHP:0020074
- Frequent (30% to 79% of cases)
- Uric acid nephrolithiasisHPOHP:0000791
- Frequent (30% to 79% of cases)
- Acute kidney injury
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
- Supportive · Orphanet · X-linked · 2021
Where it sits
Other names
2 names
Resolves to: mild phosphoribosylpyrophosphate synthetase superactivity
- Also called
- mild PRPP synthetase superactivitymild PRPS1 superactivity