prolidase deficiency
MeSH: D056732ORPHA: 742
Overview
medical condition
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 prolidase deficiency, sourced from HPO and Orphanet clinical annotations.
Low anterior hairlineHypertelorismMicrognathiaHearing impairmentAbnormality of the middle earDepressed nasal ridgeVisual impairmentProptosisCarious teethDry skinHyperkeratosisThin skinPalmoplantar keratodermaPruritusCutaneous photosensitivityHirsutismArachnodactylyAbnormal fingernail morphologyIntellectual disabilitySplenomegalyAbnormal facial shapeRecurrent respiratory infectionsWhite forelockGeneralized hirsutismHepatomegalyAbnormality of the immune systemGenu valgumAbnormal hip bone morphologyReduced bone mineral densityDepressed nasal bridgeCrusting erythematous dermatitisBilateral single transverse palmar creasesAbnormal retinal pigmentationAplasia/Hypoplasia of the skinHypoplasia of the zygomatic boneErythemaRecurrent cystitisPapuleSkin ulcer
Classification & Codes
MeSH Code
D056732Orphanet Code
ORPHA:742prolidase deficiency
| MeSH | D056732 |
| Orphanet | ORPHA:742 |
| Treatments | 0 drug(s) |
| Symptoms on record | 39 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO