severe phosphoribosylpyrophosphate synthetase superactivity
Findings
No curated finding names severe phosphoribosylpyrophosphate synthetase superactivity yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Severe phosphoribosylpyrophosphate (PRPP) synthetase superactivity is the severe and early-onset form of PRPP synthetase superactivity, an X-linked disorder of purine metabolism associated with hyperuricemia and hyperuricosuria, that is characterized by urolithiasis, gout and neurodevelopmental anomalies.
Definition from the Mondo Disease Ontology (MONDO:0018464), read 2026-09-29. CC BY 4.0.
Features
21 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.
- GoutHPOHP:0001997
- Very frequent (80% to 99% of cases)
- HyperuricemiaHPOHP:0002149
- Very frequent (80% to 99% of cases)
- Increased phosphoribosylpyrophosphate synthetase levelHPOHP:0003240
- Very frequent (80% to 99% of cases)
- Neurodevelopmental abnormalityHPOHP:0012759
- Very frequent (80% to 99% of cases)
- Uric acid nephrolithiasisHPOHP:0000791
- Very frequent (80% to 99% of cases)
- Abnormality of the nervous systemHPOHP:0000707
- Frequent (30% to 79% of cases)
Show the remaining 9
- Sensorineural hearing impairmentHPOHP:0000407
- Frequent (30% to 79% of cases)
- Acute kidney injuryHPOHP:0001919
- Occasional (5% to 29% of cases)
- AtaxiaHPOHP:0001251
- Occasional (5% to 29% of cases)
- Motor polyneuropathyHPOHP:0007178
- Occasional (5% to 29% of cases)
- Peripheral neuropathyHPOHP:0009830
- Occasional (5% to 29% of cases)
- GlaucomaHPOHP:0000501
- Very rare (1% to 4% of cases)
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: severe phosphoribosylpyrophosphate synthetase superactivity
- Also called
- severe PRPP synthetase superactivitysevere PRPS1 superactivity