prolidase deficiency
Findings
No curated finding names prolidase deficiency yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
An inherited disorder of peptide metabolism characterized by severe skin lesions, recurrent infections (involving mainly the skin and respiratory system), dysmorphic facial features, variable cognitive impairment, and splenomegaly.
Definition from the Mondo Disease Ontology (MONDO:0008221), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Childhood onset
HPO, annotations 2026-09-02
Features
63 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Depressed nasal bridgeHPOHP:0005280
- 4 of 4 reported patients
- Very frequent (80% to 99% of cases)
- Eczematoid dermatitisHPOHP:0000964
- 4 of 4 reported patients
- Elevated circulating aspartate aminotransferase concentrationHPOHP:0031956
- 4 of 4 reported patients
- HepatomegalyHPOHP:0002240
- 4 of 4 reported patients
- Occasional (5% to 29% of cases)
- HypertelorismHPOHP:0000316
- 4 of 4 reported patients
- Frequent (30% to 79% of cases)
- Prolonged neonatal jaundiceHPOHP:0006579
- 4 of 4 reported patients
Show the remaining 51
- Abnormal facial shapeHPOHP:0001999
- Very frequent (80% to 99% of cases)
- Abnormal hip bone morphologyHPOHP:0003272
- Very frequent (80% to 99% of cases)
- Abnormality of the immune systemHPOHP:0002715
- Very frequent (80% to 99% of cases)
- Abnormality of the middle earHPOHP:0000370
- Very frequent (80% to 99% of cases)
- Aplasia/Hypoplasia of the skinHPOHP:0008065
- Very frequent (80% to 99% of cases)
- Carious teethHPOHP:0000670
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- PEPDHGNC:8840
- Definitive · ClinGen · Autosomal recessive · 2025
- Definitive · G2P · Autosomal recessive · 2017
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2023
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Supportive · Orphanet · Autosomal recessive · 2021
Where it sits
Other names
1 name
Resolves to: prolidase deficiency
- Also called
- hyperimidodipeptiduria