primary hyperoxaluria
MeSH: D006960ORPHA: 416
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 primary hyperoxaluria, sourced from HPO and Orphanet clinical annotations.
HyperoxaluriaCalcium oxalate nephrolithiasisNephrocalcinosisAbnormality of the dentitionRetinopathyOptic disc pallorOptic atrophyHematuriaFailure to thriveMetabolic acidosisBone painRecurrent fracturesElevated circulating hepatic transaminase concentrationIntermittent claudicationGeneralized osteosclerosisAbnormal dental pulp morphologyReduced visual acuityPeripheral neuropathyRootless teethChoroidal neovascularizationAciduriaChronic kidney diseaseHeart blockArterial occlusionRaynaud phenomenonElevated urine glycolateGangreneAcrocyanosisHypercalciuriaStage 5 chronic kidney diseaseCutis marmorataCardiomyopathyCalcinosis cutis
Classification & Codes
MeSH Code
D006960Orphanet Code
ORPHA:416primary hyperoxaluria
| MeSH | D006960 |
| Orphanet | ORPHA:416 |
| Treatments | 0 drug(s) |
| Symptoms on record | 33 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO