Information on FMF-AD
Name: Familial Mediterranean Fever, AD | Acronym: FMF-AD
Alt. names: autosomal dominant Familial Mediterranean Fever
Gene: MEFV | MOI: Autosomal dominant | Mechanism of action:
No. of cases in DB: 0 | First reported in: 1997
Last updated on: 2023-02-28 by
Description
is an autoinflammatory disorder characterized by recurrent short episodes of fever and serositis resulting in pain in the abdomen, chest, joints and muscles.
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.
Summary of clinical findings
[Considering only Definitive and Possible cases]
| Rank | Clinical phenotype | Present | Absent | Unreported |
|---|---|---|---|---|
| 1 | Arthralgia |
5 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 2 | Polyarthritis |
5 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 3 | proteinuria |
5 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 4 | Recurrent fevers |
5 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 5 | Erysipelas |
4 (80.0%) | 0 (0.0%) | 1 (20.0%) |
| 6 | Pleuritis |
4 (80.0%) | 0 (0.0%) | 1 (20.0%) |
| 7 | Renal amyloidosis |
2 (40.0%) | 0 (0.0%) | 3 (60.0%) |
| 8 | Renal insufficiency |
2 (40.0%) | 0 (0.0%) | 3 (60.0%) |
Age of onset
distribution
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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.
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).