ORPHA:342
Familial Mediterranean fever
Synonyms: Benign paroxysmal peritonitis · Benign recurrent polyserositis · FMF · Familial paroxysmal polyserositis · Periodic disease
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal dominant, Autosomal recessive
- Age of onset
- Adolescent, Adult, Childhood, Infancy
- Status
- active
Familial Mediterranean fever (FMF) is an autoinflammatory disorder characterized by recurrent short episodes of fever and serositis resulting in pain in the abdomen, chest, joints and muscles.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Familial Mediterranean fever | Benign paroxysmal peritonitis · Benign recurrent polyserositis · FMF · Familial paroxysmal polyserositis · Periodic disease |
| fr | Fièvre méditerranéenne familiale | FMF · Maladie périodique · Polysérosite paroxystique familiale · Polysérosite récurrente bénigne · Péritonite paroxystique bénigne |
| de | Mittelmeerfieber, familiäres | FMF · Periodische Krankheit · Peritonitis, benigne paroxysmale · Polyserositis, benigne rekurrierende · Polyserositis, paroxysmale, familiäre Form |
| es | Fiebre mediterránea familiar | Enfermedad periódica · FMF · Peritonitis paroxística benigna · Peritonitis paroxística familiar · Poliserositis recurrente benigna |
| it | Febbre mediterranea familiare | FMF · Malattia periodica · Peritonite parossistica benigna · Polisierosite parossistica familiare · Polisierosite ricorrente benigna |
| nl | Familiale Middellandse Zeekoorts | FMF · Familiale mediterrane koorts · Familiale paroxysmale polyserositis · Goedaardige paroxysmale peritonitis · Goedaardige terugkerende polyserositis · Periodieke ziekte |
| pt | Febre mediterrânica familiar | Doença periódica |
| pl | Rodzinna gorączka śródziemnomorska | FMF · Gorączka przejściowa · Łagodne napadowe zapalenie otrzewnej · Łagodne nawrotowe zapalenie wielosurowicze · Rodzinne napadowe zapalenie wielosurowicze |
| cs | Familiární středozemská horečka | Benigní paroxysmální peritonitis · Benigní rekurentní polyserozitida · FMF · Familiární paroxysmální polyserozitida · Periodická nemoc |
| uk | Сімейна середземноморська лихоманка | Доброякісний пароксизмальний перитоніт · Доброякісний рецидивуючий полісерозит · Сімейний пароксизмальний полісерозит · FMF · Періодичне захворювання |
| zh | 家族性地中海热 | 家族性阵发性多浆膜炎 |
| tr | Ailesel Akdeniz ateşi | FMF · Periyodik hastalık · Selim paroksismal peritonit · Selim tekrarlayan poliserozit · Ailesel paroksismal poliserozit |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 134610 | BTNT | validated | |
| OMIM | 249100 | E | validated | |
| ICD-10 | E85.0 | NTBT | inclusion | validated |
| ICD-11 | 4A60.0 | E | specific | validated |
| MONDO | 0018088 | E | validated | |
| MeSH | D010505 | E | validated | |
| UMLS | C0031069 | E | validated | |
| GARD | 6421 | E | validated | |
| MedDRA | 10016207 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
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Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (3):
- ORPHA:290839Autoinflammatory syndrome with immune deficiency
rare genetic diseases; rare immunological diseases - ORPHA:567556Genetic systemic disease with glomerulopathy as a major feature
rare genetic diseases; rare renal diseases; rare transplant-related disorders - ORPHA:324924Hereditary periodic fever syndrome
rare genetic diseases; rare systemic and rheumatological diseases; rare systemic or rheumatologic diseases of childhood
No children.
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Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| MEFV | Disease-causing germline mutation(s) in | Assessed | HGNC:6998 | ENSG00000103313 | 608107 | 16p13.3 | MEFV innate immunity regulator, pyrin |
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Prevalence and incidence
6 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | >1 / 1000 | 175 / 100 000 | Turkey | Value and class | Not yet validated | 9858443[PMID]_15515780[PMID]_15643295[PMID] |
| Point prevalence | >1 / 1000 | 200 / 100 000 | Armenia | Value and class | Validated | 18403822[PMID] |
| Point prevalence | 1-9 / 100 000 | 2.5 / 100 000 | Sweden | Value and class | Validated | 23194659[PMID] |
| Point prevalence | 1-9 / 1 000 000 | 0.23 / 100 000 | Japan | Value and class | Not yet validated | 23111802[PMID]_ORPHANET |
| Point prevalence | 1-5 / 10 000 | — | Europe | Class only | Not yet validated | ORPHANET |
| Annual incidence | 1-5 / 10 000 | 14 / 100 000 | Specific population | Value and class | Not yet validated | ORPHANET |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
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HPO phenotypes
50 annotations · validated 2024-02-07| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0002027 | Abdominal pain | |
| HP:0002829 | Arthralgia | |
| HP:0002019 | Constipation | |
| HP:0001945 | Fever | |
| HP:0003326 | Myalgia | |
| HP:0002017 | Nausea and vomiting | |
| Frequent (79-30%) | ||
| HP:0001369 | Arthritis | |
| HP:0025406 | Asthenia | |
| HP:0100749 | Chest pain | |
| HP:0002014 | Diarrhea | |
| HP:0001055 | Erysipelas | |
| HP:0010783 | Erythema | |
| HP:0012378 | Fatigue | |
| HP:0011899 | Hyperfibrinogenemia | |
| HP:0033748 | Hypoesthesia | |
| HP:0001974 | Increased total leukocyte count | |
| HP:0000737 | Irritability | |
| HP:0002745 | Oral leukoplakia | |
| HP:0002102 | Pleuritis | |
| HP:0005764 | Polyarticular arthritis | |
| HP:0004396 | Poor appetite | |
| HP:0000093 | Proteinuria | |
| HP:0001250 | Seizure | |
| HP:0002360 | Sleep abnormality | |
| Occasional (29-5%) | ||
| HP:0006554 | Acute hepatic failure | |
| HP:0011034 | Amyloidosis | |
| HP:0000739 | Anxiety | |
| HP:0011675 | Arrhythmia | |
| HP:0001541 | Ascites | |
| HP:0000716 | Depression | |
| HP:0003565 | Elevated erythrocyte sedimentation rate | |
| HP:0005244 | Gastrointestinal infarctions | |
| HP:0005214 | Intestinal obstruction | |
| HP:0003419 | Low back pain | |
| HP:0002716 | Lymphadenopathy | |
| HP:0002024 | Malabsorption | |
| HP:0001287 | Meningitis | |
| HP:0001658 | Myocardial infarction | |
| HP:0000121 | Nephrocalcinosis | |
| HP:0000112 | Nephropathy | |
| HP:0000100 | Nephrotic syndrome | |
| HP:0100796 | Orchitis | |
| HP:0002758 | Osteoarthritis | |
| HP:0001733 | Pancreatitis | |
| HP:0010741 | Pedal edema | |
| HP:0002586 | Peritonitis | |
| HP:0000988 | Skin rash | |
| HP:0001744 | Splenomegaly | |
| HP:0002633 | Vasculitis | |
| Very rare (<4-1%) | ||
| HP:0001701 | Pericarditis | |
Run the differential on the 6 obligate / very frequent terms
Annotation source: 20301405[PMID]_32806879[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/342
- This record as JSON: /data/d/342.json