Information on FMF-AR
Basic details
Name: Familial Mediterranean fever, AR | Acronym: FMF-AR
Alt. names: Autosomal recessive Familial Mediterranean fever
Gene: MEFV | MOI: Autosomal recessive | Mechanism of action:
No. of cases in DB: 0 | First reported in:
Last updated on: 2023-02-28 16:41:18 by
Description
a disorder characterized by recurrent attacks of fever and inflammation in the peritoneum, synovium, or pleura, accompanied by pain. Amyloidosis with renal failure is a complication and may develop without overt crises
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 | Recurrent fevers |
520 (63.5%) | 0 (0.0%) | 299 (36.5%) |
| 2 | Abdominal pain |
353 (79.2%) | 0 (0.0%) | 93 (20.9%) |
| 3 | Episodic abdominal pain |
349 (71.5%) | 0 (0.0%) | 139 (28.5%) |
| 4 | Arthralgia |
218 (56.9%) | 0 (0.0%) | 165 (43.1%) |
| 5 | Arthritis |
218 (38.9%) | 0 (0.0%) | 343 (61.1%) |
| 6 | Peritonitis |
164 (93.7%) | 0 (0.0%) | 11 (6.3%) |
| 7 | Chest pain |
125 (33.5%) | 0 (0.0%) | 248 (66.5%) |
| 8 | Aphthous oral ulcer |
89 (23.9%) | 0 (0.0%) | 284 (76.1%) |
| 9 | Pleuritis |
54 (47.0%) | 0 (0.0%) | 61 (53.0%) |
| 10 | Vomiting |
34 (7.6%) | 0 (0.0%) | 412 (92.4%) |
| 11 | Diarrhea |
30 (6.7%) | 0 (0.0%) | 416 (93.3%) |
| 12 | Renal amyloidosis |
17 (3.8%) | 0 (0.0%) | 429 (96.2%) |
| 13 | Chronic constipation |
16 (3.6%) | 0 (0.0%) | 430 (96.4%) |
| 14 | Erysipelas |
13 (11.3%) | 0 (0.0%) | 102 (88.7%) |
| 15 | Orchitis |
11 (3.0%) | 0 (0.0%) | 362 (97.1%) |
| 16 | Crohn's disease |
6 (5.2%) | 0 (0.0%) | 109 (94.8%) |
| 17 | Stage 5 chronic kidney disease |
6 (5.2%) | 0 (0.0%) | 109 (94.8%) |
| 18 | Amyloidosis |
5 (4.4%) | 0 (0.0%) | 110 (95.7%) |
| 19 | Splenomegaly |
5 (4.4%) | 0 (0.0%) | 110 (95.7%) |
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.