hyperprolinemia type 1
ORPHA: 419
Overview
hyperprolinemia that has material basis in homozygous or compound heterozygous mutation in the proline dehydrogenase gene on chromosome 22q11
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 hyperprolinemia type 1, sourced from HPO and Orphanet clinical annotations.
ProteinuriaNephropathySeizureProlinuriaHyperprolinemiaSchizophrenia
Classification & Codes
Orphanet Code
ORPHA:419hyperprolinemia type 1
| Orphanet | ORPHA:419 |
| Treatments | 0 drug(s) |
| Symptoms on record | 6 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO