primary hyperoxaluria type I

MeSH: C536414ORPHA: 93598

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 type I, sourced from HPO and Orphanet clinical annotations.

DysuriaRecurrent urinary tract infectionsEnuresisNephrocalcinosisNephrolithiasisAnemiaMetabolic acidosisHyperoxaluriaCalcinosisAbnormal circulating enzyme concentrationHematuriaFailure to thriveDecreased glomerular filtration rateAbnormality of the skeletal systemStage 5 chronic kidney diseaseAbnormality of the dentitionStrokeAbnormality of metabolism/homeostasisAtherosclerosis

Classification & Codes

MeSH Code

C536414

Orphanet Code

ORPHA:93598
primary hyperoxaluria type I
MeSHC536414
OrphanetORPHA:93598
Treatments0 drug(s)
Symptoms on record19 signs
Statuspublished
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO
primary hyperoxaluria type I | OrphanDrug