orotic aciduria
ICD-10: D53.0MeSH: C537136ORPHA: 30
Overview
pyrimidine metabolic disorder that is characterized by an excessive secretion of orotic acid in urine
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 orotic aciduria, sourced from HPO and Orphanet clinical annotations.
Global developmental delayAnemiaOroticaciduriaAminoaciduriaOrotic acid crystalluriaAbnormality of the ureterHypertelorismWide nasal bridgeDownslanted palpebral fissuresHip dysplasiaPatent ductus arteriosusSplenomegalyRecurrent respiratory infectionsAbnormal toenail morphologyAbnormal T cell physiologyPosteriorly rotated ears
Classification & Codes
ICD-10 Code
D53.0MeSH Code
C537136Orphanet Code
ORPHA:30orotic aciduria
| ICD-10 | D53.0 |
| MeSH | C537136 |
| Orphanet | ORPHA:30 |
| Treatments | 0 drug(s) |
| Symptoms on record | 16 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO