Information on OMPP
Basic details
Name: Interleukin 1 receptor antagonist deficiency | Acronym: OMPP
Alt. names: OSTEOMYELITIS, STERILE MULTIFOCAL, WITH PERIOSTITIS AND PUSTULOSIS
Gene: IL1RN | MOI: Autosomal recessive | Mechanism of action:
No. of cases in DB: 0 | First reported in: 2009
Last updated on: 2023-02-28 16:41:18 by
Description
Individuals may present in infancy with manifestations including rash, pain, and oral lesions, which may advance to more severe findings such as progressive skin lesions, vasculitis, skeletal lesions, pulmonary disease, and severe inflammatory response syndrome, and medical treatment (eg, with anakinra) has been described as effective . Refs. PMIDs: 19494218; 19494219
Management
Description of management option has not been reviewed yet.
Please mind that full curation of this condition has not started yet. Please contact us if you want to volunteer.
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 | Neonatal onset |
12 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 2 | Osteolysis |
11 (91.7%) | 0 (0.0%) | 1 (8.3%) |
| 3 | Broad ribs |
9 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 4 | Joint swelling |
9 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 5 | Fetal distress |
5 (55.6%) | 0 (0.0%) | 4 (44.4%) |
| 6 | Elevated C-reactive protein |
4 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 7 | Fused cervical vertebrae |
4 (50.0%) | 0 (0.0%) | 4 (50.0%) |
| 8 | elevated ESR |
3 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 9 | Epidermal acanthosis |
3 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 10 | Abscess |
2 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 11 | Failure to thrive in infancy |
2 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 12 | Hyperkeratosis |
2 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 13 | Motor delay |
2 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 14 | Flaring of rib cage |
1 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 15 | Neutrophilia |
1 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 16 | Osteomyelitis |
1 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 17 | Osteopenia |
1 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 18 | Pulmonary fibrosis |
1 (11.1%) | 0 (0.0%) | 8 (88.9%) |
| 19 | Pustule |
1 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 20 | Skin rash |
1 (99.9%) | 0 (0.0%) | 0 (0.0%) |
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.