{"orpha":117,"name":"Behçet disease","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"A rare, chronic, relapsing, multisystemic vasculitis characterized by mucocutaneous lesions, as well as articular, vascular, ocular and central nervous system manifestations.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-117/","orphanet_url":"https://www.orpha.net/en/disease/detail/117","names":{"fr":{"name":"Maladie de Behçet","definition":"Vascularite chronique, récidivante et multisystèmique rare, caractérisée par des lésions mucocutanées, des manifestations articulaires, vasculaires, oculaires et du système nerveux central."},"de":{"name":"Behçet-Syndrom","synonyms":["Behçet-Krankheit","Morbus Adamantiades-Behçet"],"definition":"Eine seltene chronisch-rezidivierende, multisystemische Vaskulitis, die durch mukokutane Läsionen und artikuläre, vaskuläre, okuläre und das Zentralnervensystem betreffende Symptome gekennzeichnet ist."},"es":{"name":"Enfermedad de Behçet","definition":"Es una vasculitis multisistémica crónica y recurrente caracterizada por lesiones mucocutáneas, así como por manifestaciones articulares, vasculares, oculares y del sistema nervioso central."},"it":{"name":"Malattia di Behçet","definition":"La malattia di Behçet (BD) è una vasculite multisistemica recidivante cronica rara, caratterizzata da lesioni mucocutanee, articolari, vascolari e oculari, e da sintomi a carico del sistema nervoso centrale."},"nl":{"name":"Ziekte van Behçet","definition":"Een zeldzame, chronische, recidiverende, multisystemische vasculitis, gekarakteriseerd door mucocutane laesies, alsook articulaire, vasculaire en oculaire manifestaties en manifestaties van centraal zenuwstelsel."},"pt":{"name":"Doença Behçet","definition":"Vasculite multissistémica rara, crónica e recidivante, caracterizada por lesões mucocutâneas, bem como manifestações articulares, vasculares, oculares e do sistema nervoso central."},"pl":{"name":"Choroba Behçeta"},"cs":{"name":"Behçetův syndrom"},"uk":{"name":"Хвороба Бехчета","definition":"A rare, chronic, relapsing, multisystemic vasculitis characterized by mucocutaneous lesions, as well as articular, vascular, ocular and central nervous system manifestations."},"zh":{"name":"白塞病"},"tr":{"name":"Behçet hastalığı"}},"xrefs":[{"source":"OMIM","code":"109650","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"M35.2","qualifier":"E","icd_relation":"specific","validated":true},{"source":"ICD-11","code":"4A62","qualifier":"E","icd_relation":"specific","validated":true,"icd11_uri":"1668927157"},{"source":"MONDO","code":"0007191","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"D001528","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0004943","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"848","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10004213","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98023,"name":"Rare systemic or rheumatologic disease"},"parents":[{"orpha":290842,"name":"Autoinflammatory syndrome with skin involvement","classifications":[187]},{"orpha":166484,"name":"Inflammatory and autoimmune disease with epilepsy","classifications":[181]},{"orpha":567558,"name":"Non-genetic systemic disease with glomerulopathy as a major feature","classifications":[188,233]},{"orpha":156140,"name":"Predominantly large-vessel vasculitis","classifications":[196,198]},{"orpha":280926,"name":"Systemic diseases with anterior uveitis","classifications":[189]},{"orpha":280933,"name":"Systemic diseases with panuveitis","classifications":[189]},{"orpha":280930,"name":"Systemic diseases with posterior uveitis","classifications":[189]},{"orpha":324936,"name":"Unclassified autoinflammatory syndrome","classifications":[196]},{"orpha":324953,"name":"Unclassified autoinflammatory syndrome of childhood","classifications":[231]}],"children":[],"genes":[{"symbol":"C4A","name":"complement C4A (Chido/Rodgers blood group)","gene_type":"gene with protein product","association":"Major susceptibility factor in","status":"Assessed","source":"23918728[PMID]","hgnc":"1323","ensembl":"ENSG00000244731","omim":"120810","loci":["6p21.33"]},{"symbol":"CCR1","name":"C-C motif chemokine receptor 1","gene_type":"gene with protein product","association":"Major susceptibility factor in","status":"Assessed","source":"26097239[PMID]","hgnc":"1602","ensembl":"ENSG00000163823","omim":"601159","loci":["3p21.31"]},{"symbol":"ERAP1","name":"endoplasmic reticulum aminopeptidase 1","gene_type":"gene with protein product","association":"Major susceptibility factor in","status":"Assessed","source":"26097239[PMID]","hgnc":"18173","ensembl":"ENSG00000164307","omim":"606832","loci":["5q15"]},{"symbol":"FAS","name":"Fas cell surface death receptor","gene_type":"gene with protein product","association":"Major susceptibility factor in","status":"Assessed","source":"26136352[PMID]","hgnc":"11920","ensembl":"ENSG00000026103","omim":"134637","loci":["10q23.31"]},{"symbol":"HLA-B","name":"major histocompatibility complex, class I, B","gene_type":"gene with protein product","association":"Major susceptibility factor in","status":"Assessed","source":"20622878[PMID]","hgnc":"4932","ensembl":"ENSG00000234745","omim":"142830","loci":["6p21.33"]},{"symbol":"IFNGR1","name":"interferon gamma receptor 1","gene_type":"gene with protein product","association":"Major susceptibility factor in","status":"Assessed","source":"33393726[PMID]","hgnc":"5439","ensembl":"ENSG00000027697","omim":"107470","loci":["6q23.3"]},{"symbol":"IL10","name":"interleukin 10","gene_type":"gene with protein product","association":"Major susceptibility factor in","status":"Assessed","source":"20622878[PMID]_26015771[PMID]","hgnc":"5962","ensembl":"ENSG00000136634","omim":"124092","loci":["1q32.1"]},{"symbol":"IL12A","name":"interleukin 12A","gene_type":"gene with protein product","association":"Major susceptibility factor in","status":"Assessed","source":"25799145[PMID]","hgnc":"5969","ensembl":"ENSG00000168811","omim":"161560","loci":["3q25.33"]},{"symbol":"IL12A-AS1","name":"IL12A antisense RNA 1","gene_type":"Non-coding RNA","association":"Major susceptibility factor in","status":"Assessed","source":"26097239[PMID]","hgnc":"49094","ensembl":"ENSG00000244040","omim":null,"loci":["3q25.33"]},{"symbol":"IL23R","name":"interleukin 23 receptor","gene_type":"gene with protein product","association":"Major susceptibility factor in","status":"Assessed","source":"23633568[PMID]","hgnc":"19100","ensembl":"ENSG00000162594","omim":"607562","loci":["1p31.3"]},{"symbol":"KLRC4","name":"killer cell lectin like receptor C4","gene_type":"gene with protein product","association":"Major susceptibility factor in","status":"Assessed","source":"26097239[PMID]","hgnc":"6377","ensembl":"ENSG00000183542","omim":"602893","loci":["12p13.2"]},{"symbol":"MEFV","name":"MEFV innate immunity regulator, pyrin","gene_type":"gene with protein product","association":"Major susceptibility factor in","status":"Assessed","source":"23633568[PMID]","hgnc":"6998","ensembl":"ENSG00000103313","omim":"608107","loci":["16p13.3"]},{"symbol":"STAT4","name":"signal transducer and activator of transcription 4","gene_type":"gene with protein product","association":"Major susceptibility factor in","status":"Assessed","source":"23001997[PMID]_26097239[PMID]","hgnc":"11365","ensembl":"ENSG00000138378","omim":"600558","loci":["2q32.2-q32.3"]},{"symbol":"TLR4","name":"toll like receptor 4","gene_type":"gene with protein product","association":"Major susceptibility factor in","status":"Assessed","source":"23633568[PMID]","hgnc":"11850","ensembl":"ENSG00000136869","omim":"603030","loci":["9q33.1"]},{"symbol":"UBAC2","name":"UBA domain containing 2","gene_type":"gene with protein product","association":"Major susceptibility factor in","status":"Assessed","source":"21918955[PMID]_22455605[PMID]","hgnc":"20486","ensembl":"ENSG00000134882","omim":null,"loci":["13q32.3"]}],"genes_via_subtypes":[],"inheritance":["Multigenic/multifactorial"],"onset":["Adolescent","Adult","Childhood"],"prevalence":[{"type":"Annual incidence","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.66,"area":"Spain","status":"Validated","source":"10743812[PMID]"},{"type":"Annual incidence","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.24,"area":"Italy","status":"Validated","source":"17266063[PMID]"},{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 100 000","value":5.2,"area":"United States","status":"Validated","source":"19405011[PMID]"},{"type":"Annual incidence","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.58,"area":"Iran, Islamic Republic of","status":"Validated","source":"21199472[PMID]"},{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 100 000","value":7.1,"area":"France","status":"Validated","source":"19035493[PMID]"},{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 100 000","value":3.8,"area":"Italy","status":"Validated","source":"17266063[PMID]"},{"type":"Point prevalence","qualification":"Value and class","class":"1-5 / 10 000","value":11.1,"area":"United Kingdom","status":"Validated","source":"36068543[PMID]"},{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 100 000","value":1.2,"area":"Sweden","status":"Validated","source":"7904097[PMID]"},{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 100 000","value":1.5,"area":"Portugal","status":"Validated","source":"10519357[PMID]"},{"type":"Point prevalence","qualification":"Value and class","class":"1-5 / 10 000","value":10.0,"area":"Japan","status":"Validated","source":"19035493[PMID]_[EXPERT]"},{"type":"Point prevalence","qualification":"Value and class","class":">1 / 1000","value":225.0,"area":"Turkey","status":"Validated","source":"19035493[PMID]_[EXPERT]"},{"type":"Point prevalence","qualification":"Value and class","class":"1-5 / 10 000","value":16.7,"area":"Iran, Islamic Republic of","status":"Validated","source":"10519357[PMID]"},{"type":"Point prevalence","qualification":"Value and class","class":"1-5 / 10 000","value":15.2,"area":"Israel","status":"Validated","source":"16897122[PMID]"},{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 100 000","value":1.4,"area":"Taiwan, Province of China","status":"Not yet validated","source":"22899470[PMID]"},{"type":"Annual incidence","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.8,"area":"Taiwan, Province of China","status":"Validated","source":"22899470[PMID]"},{"type":"Point prevalence","qualification":"Value and class","class":"1-5 / 10 000","value":20.0,"area":"Saudi Arabia","status":"Validated","source":"10519357[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"1-9 / 100 000","value":0.0,"area":"Europe","status":"Not yet validated","source":"ORPHANET"},{"type":"Annual incidence","qualification":"Value and class","class":"1-9 / 100 000","value":1.51,"area":"Korea, Republic of","status":"Validated","source":"32770715[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2024-01-26","source":"33622338[PMID]_37414674[PMID]_36611332[PMID]","terms":[{"hpo":"HP:0001369","label":"Arthritis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0012378","label":"Fatigue","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001945","label":"Fever","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001287","label":"Meningitis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002076","label":"Migraine","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:0000155","label":"Oral ulcer","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0100796","label":"Orchitis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0200034","label":"Papule","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000613","label":"Photophobia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0011107","label":"Recurrent aphthous stomatitis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001482","label":"Subcutaneous nodule","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002633","label":"Vasculitis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002027","label":"Abdominal pain","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0008066","label":"Abnormal blistering of the skin","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001061","label":"Acne","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002829","label":"Arthralgia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001289","label":"Confusion","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0011227","label":"Elevated circulating C-reactive protein concentration","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003565","label":"Elevated erythrocyte sedimentation rate","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012219","label":"Erythema nodosum","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001288","label":"Gait disturbance","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002239","label":"Gastrointestinal hemorrhage","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003249","label":"Genital ulcers","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002315","label":"Headache","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001269","label":"Hemiparesis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0100326","label":"Immunologic hypersensitivity","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012649","label":"Increased inflammatory response","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0007813","label":"Nongranulomatous uveitis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012121","label":"Panuveitis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0025532","label":"Positive pathergy test","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0200039","label":"Pustule","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002638","label":"Superficial thrombophlebitis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0004936","label":"Venous thrombosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:4000041","label":"AA amyloidosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001637","label":"Abnormal myocardium morphology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0007256","label":"Abnormal pyramidal sign","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002039","label":"Anorexia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001659","label":"Aortic regurgitation","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0004420","label":"Arterial thrombosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001251","label":"Ataxia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000708","label":"Atypical behavior","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0010885","label":"Avascular necrosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000618","label":"Blindness","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000518","label":"Cataract","frequency":"Occasional 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(29-5%)","criteria":null},{"hpo":"HP:0002383","label":"Infectious encephalitis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000737","label":"Irritability","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001097","label":"Keratoconjunctivitis sicca","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:0002354","label":"Memory impairment","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001653","label":"Mitral regurgitation","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001658","label":"Myocardial infarction","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012819","label":"Myocarditis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100614","label":"Myositis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0033430","label":"Non-infectious meningitis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100653","label":"Optic neuritis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001733","label":"Pancreatitis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003401","label":"Paresthesia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001701","label":"Pericarditis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002202","label":"Pleural effusion","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002102","label":"Pleuritis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002204","label":"Pulmonary embolism","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002113","label":"Pulmonary infiltrates","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001954","label":"Recurrent fever","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000083","label":"Renal insufficiency","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000488","label":"Retinopathy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100654","label":"Retrobulbar optic neuritis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001250","label":"Seizure","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001744","label":"Splenomegaly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002321","label":"Vertigo","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001824","label":"Weight loss","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002014","label":"Diarrhea","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0000099","label":"Glomerulonephritis","frequency":"Very rare (<4-1%)","criteria":null}]}}