{"orpha":342,"name":"Familial Mediterranean fever","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Benign paroxysmal peritonitis","Benign recurrent polyserositis","FMF","Familial paroxysmal polyserositis","Periodic disease"],"definition":"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.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-342/","orphanet_url":"https://www.orpha.net/en/disease/detail/342","names":{"fr":{"name":"Fièvre méditerranéenne familiale","synonyms":["FMF","Maladie périodique","Polysérosite paroxystique familiale","Polysérosite récurrente bénigne","Péritonite paroxystique bénigne"],"definition":"La fièvre méditerranéenne familiale (FMF) est une maladie auto-inflammatoire caractérisée par des crises fébriles brèves récurrentes et sérite provoquant des douleurs abdominales, à la poitrine, arthralgies et myalgies."},"de":{"name":"Mittelmeerfieber, familiäres","synonyms":["FMF","Periodische Krankheit","Peritonitis, benigne paroxysmale","Polyserositis, benigne rekurrierende","Polyserositis, paroxysmale, familiäre Form"],"definition":"Das Familiäre Mittelmeer-Fieber (FMF) ist eine auto-inflammatorische Erkrankung und gekennzeichnet durch rezidivierende Episoden von Fieber und Serositis mit Schmerzen im Abdomen, im Thorax und in den Gelenken und Muskeln. Das FMF wird primär im südöstlichen Bereich des Mittelmeeres gefunden."},"es":{"name":"Fiebre mediterránea familiar","synonyms":["Enfermedad periódica","FMF","Peritonitis paroxística benigna","Peritonitis paroxística familiar","Poliserositis recurrente benigna"],"definition":"La fiebre mediterránea familiar (FMF) es un síndrome autoinflamatorio caracterizado por episodios recurrentes y cortos de fiebre y serositis que producen dolor en el abdomen, el pecho, las articulaciones y los músculos. La FMF tiene una alta prevalencia en el sureste mediterráneo."},"it":{"name":"Febbre mediterranea familiare","synonyms":["FMF","Malattia periodica","Peritonite parossistica benigna","Polisierosite parossistica familiare","Polisierosite ricorrente benigna"],"definition":"La febbre mediterranea familiare (FMF) è una malattia autoinfiammatoria con brevi episodi ricorrenti di febbre e sierosite, che esitano in dolore addominale, toracico, articolare e muscolare. È tipica nel Sud-Est del Mediterraneo."},"nl":{"name":"Familiale Middellandse Zeekoorts","synonyms":["FMF","Familiale mediterrane koorts","Familiale paroxysmale polyserositis","Goedaardige paroxysmale peritonitis","Goedaardige terugkerende polyserositis","Periodieke ziekte"],"definition":"Familiale mediterrane koorts (FMF) is een autoinflammatoire aandoening die wordt gekenmerkt door terugkerende korte episodes van koorts en serositis, die resulteren in pijn in de buik, borst, gewrichten en spieren. FMF wordt vooral aangetroffen in het zuidoostelijke Middellandse Zeegebied."},"pt":{"name":"Febre mediterrânica familiar","synonyms":["Doença periódica"],"definition":"A Febre Mediterrânica Familiar (FMF) é uma doença autoinflamatória caracterizada por curtos episódios recorrentes de febre e serosite resultando em dor no abdómen, tórax, articulações e músculos. É encontrada principalmente na região sudeste do mediterrâneo."},"pl":{"name":"Rodzinna gorączka śródziemnomorska","synonyms":["FMF","Gorączka przejściowa","Łagodne napadowe zapalenie otrzewnej","Łagodne nawrotowe zapalenie wielosurowicze","Rodzinne napadowe zapalenie wielosurowicze"]},"cs":{"name":"Familiární středozemská horečka","synonyms":["Benigní paroxysmální peritonitis","Benigní rekurentní polyserozitida","FMF","Familiární paroxysmální polyserozitida","Periodická nemoc"]},"uk":{"name":"Сімейна середземноморська лихоманка","synonyms":["Доброякісний пароксизмальний перитоніт","Доброякісний рецидивуючий полісерозит","Сімейний пароксизмальний полісерозит","FMF","Періодичне захворювання"],"definition":"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."},"zh":{"name":"家族性地中海热","synonyms":["家族性阵发性多浆膜炎"]},"tr":{"name":"Ailesel Akdeniz ateşi","synonyms":["FMF","Periyodik hastalık","Selim paroksismal peritonit","Selim tekrarlayan poliserozit","Ailesel paroksismal poliserozit"]}},"xrefs":[{"source":"OMIM","code":"134610","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"249100","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"E85.0","qualifier":"NTBT","icd_relation":"inclusion","validated":true},{"source":"ICD-11","code":"4A60.0","qualifier":"E","icd_relation":"specific","validated":true,"icd11_uri":"1373335705"},{"source":"MONDO","code":"0018088","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"D010505","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0031069","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"6421","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10016207","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98023,"name":"Rare systemic or rheumatologic disease"},"parents":[{"orpha":290839,"name":"Autoinflammatory syndrome with immune deficiency","classifications":[156,195]},{"orpha":567556,"name":"Genetic systemic disease with glomerulopathy as a major feature","classifications":[156,188,233]},{"orpha":324924,"name":"Hereditary periodic fever syndrome","classifications":[156,196,231]}],"children":[],"genes":[{"symbol":"MEFV","name":"MEFV innate immunity regulator, pyrin","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":null,"hgnc":"6998","ensembl":"ENSG00000103313","omim":"608107","loci":["16p13.3"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant","Autosomal recessive"],"onset":["Adolescent","Adult","Childhood","Infancy"],"prevalence":[{"type":"Point prevalence","qualification":"Value and class","class":">1 / 1000","value":175.0,"area":"Turkey","status":"Not yet validated","source":"9858443[PMID]_15515780[PMID]_15643295[PMID]"},{"type":"Point prevalence","qualification":"Value and class","class":">1 / 1000","value":200.0,"area":"Armenia","status":"Validated","source":"18403822[PMID]"},{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 100 000","value":2.5,"area":"Sweden","status":"Validated","source":"23194659[PMID]"},{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.23,"area":"Japan","status":"Not yet validated","source":"23111802[PMID]_ORPHANET"},{"type":"Point prevalence","qualification":"Class only","class":"1-5 / 10 000","value":0.0,"area":"Europe","status":"Not yet validated","source":"ORPHANET"},{"type":"Annual incidence","qualification":"Value and class","class":"1-5 / 10 000","value":14.0,"area":"Specific population","status":"Not yet validated","source":"ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2024-02-07","source":"20301405[PMID]_32806879[PMID]","terms":[{"hpo":"HP:0002027","label":"Abdominal pain","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002829","label":"Arthralgia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002019","label":"Constipation","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001945","label":"Fever","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003326","label":"Myalgia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002017","label":"Nausea and vomiting","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001369","label":"Arthritis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0025406","label":"Asthenia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0100749","label":"Chest pain","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002014","label":"Diarrhea","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001055","label":"Erysipelas","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0010783","label":"Erythema","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012378","label":"Fatigue","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0011899","label":"Hyperfibrinogenemia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0033748","label":"Hypoesthesia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001974","label":"Increased total leukocyte count","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000737","label":"Irritability","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002745","label":"Oral leukoplakia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002102","label":"Pleuritis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0005764","label":"Polyarticular arthritis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0004396","label":"Poor appetite","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000093","label":"Proteinuria","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001250","label":"Seizure","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002360","label":"Sleep abnormality","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0006554","label":"Acute hepatic failure","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0011034","label":"Amyloidosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000739","label":"Anxiety","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0011675","label":"Arrhythmia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001541","label":"Ascites","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000716","label":"Depression","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003565","label":"Elevated erythrocyte sedimentation rate","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0005244","label":"Gastrointestinal infarctions","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0005214","label":"Intestinal obstruction","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003419","label":"Low back pain","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002716","label":"Lymphadenopathy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002024","label":"Malabsorption","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001287","label":"Meningitis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001658","label":"Myocardial infarction","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000121","label":"Nephrocalcinosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000112","label":"Nephropathy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000100","label":"Nephrotic syndrome","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100796","label":"Orchitis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002758","label":"Osteoarthritis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001733","label":"Pancreatitis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0010741","label":"Pedal edema","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002586","label":"Peritonitis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000988","label":"Skin rash","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001744","label":"Splenomegaly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002633","label":"Vasculitis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001701","label":"Pericarditis","frequency":"Very rare (<4-1%)","criteria":null}]}}