{"orpha":46486,"name":"Mucous membrane pemphigoid","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Cicatricial pemphigoid","Mucosal pemphigoid","Mucosynechial pemphigoid"],"definition":"A rare autoimmune bullous skin disease characterized clinically by blistering of the mucous membranes followed by scarring, and immunologically characterized by IgG, IgA and/or C3 deposits on the epidermal basement membrane. The disease principally involves the oral mucosa, but may also affect ocular, pharyngolaryngeal, genital, and esophageal mucous membranes.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-46486/","orphanet_url":"https://www.orpha.net/en/disease/detail/46486","names":{"fr":{"name":"Pemphigoïde des membranes muqueuses","synonyms":["Pemphigoïde cicatricielle","Pemphigoïde des muqueuses","Pemphigoïde mucosynechiante"],"definition":"Dermatite bulleuse auto-immune rare caractérisée cliniquement par une éruption bulleuse des muqueuses avec formation ultérieure de cicatrices, et immunologiquement par des dépôts d'IgG, d'IgA et/ou de C3 sur la membrane basale épidermique. La maladie touche principalement la muqueuse buccale, mais peut également affecter les muqueuses oculaires, pharyngolaryngées, génitales et oesophagiennes."},"de":{"name":"Schleimhautpemphigoid","synonyms":["Pemphigoid, membranöses muköses","Pemphigoid, vernarbendes"],"definition":"Eine seltene bullöse Autoimmunerkrankung der Haut, die klinisch durch Blasenbildung auf den Schleimhäuten mit anschließender Narbenbildung und immunologisch durch IgG-, IgA- und/oder C3-Ablagerungen auf der epidermalen Basalmembran gekennzeichnet ist. Die Krankheit betrifft hauptsächlich die Mundschleimhaut, kann aber auch die Schleimhäute der Augen, des Rachens, der Genitalien und der Speiseröhre betreffen."},"es":{"name":"Penfigoide de la membrana mucosa","synonyms":["Penfigoide cicatricial","Penfigoide mucosinequial","Penfigoide mucoso"],"definition":"Es una enfermedad cutánea ampollosa autoinmune poco frecuente caracterizada clínicamente por el desarrollo de ampollas en las mucosas seguido de lesiones cicatriciales. Inmunológicamente se caracterizará por depósitos de IgG, IgA y/o C3 en la membrana basal epidérmica. La enfermedad afectará principalmente a la mucosa oral, pero también puede afectar a las mucosas oculares, faringolaríngeas, genitales y esofágicas."},"it":{"name":"Pemfigo delle membrane mucose","synonyms":["Pemfigo cicatriziale","Pemfigoide delle mucose","Pemfigoide mucosinechiale"],"definition":"Il pemfigo delle membrane mucose è una malattia cutanea bollosa autoimmune rara, caratterizzata, dal punto di vista clinico, dalla formazione di vesciche sulle mucose e, successivamente, di cicatrici. Dal punto di vista immunologico è caratterizzata da depositi di IgG, IgA e/o C3 sulla membrana basale epidermica. La malattia colpisce prevalentemente la mucosa orale, ma può interessare anche le mucose degli occhi, della faringe e della laringe, dei genitali e dell'esofago."},"nl":{"name":"Slijmvliespemfigoïd","synonyms":["Cicatricieel pemfigoïd","Mucosaal pemfigoïd","Mucosynechiaal pemfigoïd"],"definition":"Een zeldzame auto-immune bulleuze huidaandoening, klinisch gekarakteriseerd door blaarvorming van slijmvlies gevolgd door littekenvorming, en immunologisch gekenmerkt door afzettingen van IgG, IgA en/of C3 op epidermale basale membraan. De ziekte treft voornamelijk wangslijmvlies, maar kan ook oculair, faryngolaryngeaal, genitaal, en oesofageaal slijmvlies aantasten."},"pt":{"name":"Penfigoide da membrana mucosa","synonyms":["Penfigoide cicatricial","Penfigoide mucosinequial","Penfigoide mucoso"],"definition":"O penfigóide das membranas mucosas é uma dermatose bolhosa caracterizada clinicamente por bolhas nas membranas mucosas seguidas de cicatrizes, e imunologicamente por depósitos de IgG, IgA e/ou C3 na membrana basal da epiderme."},"pl":{"name":"Pemfigoid bliznowaciejący","synonyms":["Cicatricial pemphigoid","Mucosynechial pemphigoid","Pemfigoid błon śluzowych"]},"cs":{"name":"Mukózní membranózní pemphigoid","synonyms":["Pemphigoid v jizvě","Slizniční pemphigoid"]},"uk":{"name":"Пемфігоїд слизової оболонки","synonyms":["Рубцевий пемфігоїд","Слизовий пемфігоїд","Мукосинехіальний пемфігоїд"],"definition":"A rare autoimmune bullous skin disease characterized clinically by blistering of the mucous membranes followed by scarring, and immunologically characterized by IgG, IgA and/or C3 deposits on the epidermal basement membrane. The disease principally involves the oral mucosa, but may also affect ocular, pharyngolaryngeal, genital, and esophageal mucous membranes."},"zh":{"name":"粘膜类天疱疮","synonyms":["粘膜粘连性类天疱疮"]},"tr":{"name":"Mukoza zarı pemfigoid","synonyms":["Mukozal pemfigoid","Sikatrisyel pemfigoid","Mukozineşiyal pemfigoid"]}},"xrefs":[{"source":"OMIM","code":"164185","qualifier":"NTBT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"L12.1","qualifier":"NTBT","icd_relation":"inclusion","validated":true},{"source":"ICD-11","code":"EB41.1","qualifier":"E","icd_relation":"specific","validated":true,"icd11_uri":"1456138933"},{"source":"MONDO","code":"0018746","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0030804","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"5913","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10057052","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":89826,"name":"Rare skin disease"},"parents":[{"orpha":79669,"name":"Autoimmune bullous skin disease","classifications":[187]},{"orpha":98567,"name":"Rare eyelid malposition disorder","classifications":[147,189]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["Not applicable"],"onset":["Adolescent","Adult","Childhood","Elderly","Infancy"],"prevalence":[{"type":"Annual incidence","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.13,"area":"France","status":"Validated","source":"7826096[PMID]_23237497[PMID]"},{"type":"Annual incidence","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.2,"area":"Germany","status":"Validated","source":"19170813[PMID]_23237497[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Europe","status":"Not yet validated","source":"ORPHANET"},{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 100 000","value":2.456,"area":"Germany","status":"Validated","source":"27456755[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":null,"terms":[{"hpo":"HP:0002960","label":"Autoimmunity","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0200097","label":"Oral mucosal blisters","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000987","label":"Atypical scarring of skin","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000230","label":"Gingivitis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0008066","label":"Abnormal blistering of the skin","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000618","label":"Blindness","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0007957","label":"Corneal opacity","frequency":"Occasional (29-5%)","criteria":null}]}}