phosphoribosylpyrophosphate synthetase superactivity
MeSH: C567064ORPHA: 3222
Overview
human disease
Available Treatments (0)
No treatments linked yet
Clinical trials or compassionate use may be available — consult a specialist.
Clinical Presentation
Signs and symptoms associated with phosphoribosylpyrophosphate synthetase superactivity, sourced from HPO and Orphanet clinical annotations.
Sensorineural hearing impairmentAtaxiaHyperuricemiaRenal insufficiencyIntellectual disabilityHypotoniaAbnormal aortic morphologyAbnormal speech patternStrabismusAbnormality of eye movementHypertensionCardiomyopathyArrhythmia
Classification & Codes
MeSH Code
C567064Orphanet Code
ORPHA:3222phosphoribosylpyrophosphate synthetase superactivity
| MeSH | C567064 |
| Orphanet | ORPHA:3222 |
| Treatments | 0 drug(s) |
| Symptoms on record | 13 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO