Information on Prolidase deficiency
Basic details
Name: Prolidase deficiency | Acronym:
Alt. names:
Gene: PEPD | MOI: Autosomal recessive | Mechanism of action:
No. of cases in DB: 0 | First reported in: 1990
Last updated on: 2023-02-28 16:41:18 by
Description
Individuals may have a number of manifestations, including frequent and severe respiratory and other infections, and antiinfectious prophylaxis and early and aggressive treatment of infections may be beneficial. Refs. PMIDs: 4828441; 874681; 908977; 7095220; 6727550; 1972707; 8198124; 8900231; 12384772; 16470701; 18340504; 19308961; 19937054
Management
Description of management option has not been reviewed yet.
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0 reported cases added to GenIA
| SubjectID | Sex | Fam.ID | AD | AFM | Validity | Country | Population | Reference & Pub.code |
|---|
AD: Age at genetic diagnosis; AFM: age at first manifestation; PMID: PubMed ID; GRID: GenIA reference ID (ref. not in PubMed).
Summary of clinical findings
[Considering only Definitive and Possible cases]
| Rank | Clinical term | Present | Absent | Unreported |
|---|---|---|---|---|
| 1 | Splenomegaly |
15 (65.2%) | 0 (0.0%) | 8 (34.8%) |
| 2 | Skin ulcer |
14 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 3 | Hypergammaglobulinaemia |
13 (92.9%) | 0 (0.0%) | 1 (7.1%) |
| 4 | Asthma |
7 (30.4%) | 0 (0.0%) | 16 (69.6%) |
| 5 | Reduced tissue peptidase D activity |
5 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 6 | Depressed nasal bridge |
4 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 7 | Eczema |
4 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 8 | Elevated circulating AST levels |
4 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 9 | Hepatomegaly |
4 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 10 | Hypertelorism |
4 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 11 | Prolonged neonatal jaundice |
4 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 12 | Prominent forehead |
4 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 13 | Proptosis |
4 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 14 | Recurrent infections |
4 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 15 | Anemia |
3 (75.0%) | 0 (0.0%) | 1 (25.0%) |
| 16 | Petechiae |
3 (75.0%) | 0 (0.0%) | 1 (25.0%) |
| 17 | Thrombocytopenia |
3 (75.0%) | 0 (0.0%) | 1 (25.0%) |
| 18 | Failure to thrive |
2 (50.0%) | 0 (0.0%) | 2 (50.0%) |
| 19 | Febrile seizure (within the age range of 3 months to 6 years) |
2 (50.0%) | 0 (0.0%) | 2 (50.0%) |
| 20 | Mild global developmental delay |
2 (50.0%) | 0 (0.0%) | 2 (50.0%) |
| 21 | Systemic lupus erythematosus |
2 (10.5%) | 0 (0.0%) | 17 (89.5%) |
Please mind that full curation of this condition has not started yet. Please contact us if you want to volunteer.
Summary of treatment outcomes
[Considering only Definitive and Possible cases]
| Treatment ⓘ | Responses & clinical indications |
|---|
Please mind that full curation of this condition has not started yet. Please contact us if you want to volunteer.