{"orpha":704,"name":"Pemphigus vulgaris","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"A rare autoimmune bullous skin diseases characterized by painful, flaccid blisters and erosions of the oral mucosa, predominantly involving the buccal area, and with or without extension to the epidermis. Mucosa of the larynx, oesophagus, conjunctiva, nose, genitalia and anus, are less frequently affected.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-704/","orphanet_url":"https://www.orpha.net/en/disease/detail/704","names":{"fr":{"name":"Pemphigus vulgaire","synonyms":["Pemphigus profond"],"definition":"Un groupe de maladies rares de la peau d'origine auto-immune, caractérisées par la formation de vésicules flasques et par des érosions des muqueuses, affectant principalement la région buccale, s'étendant parfois à l'épiderme. Les muqueuses du larynx, de l'oesophage, de la conjonctive, du nez, des organes génitaux et de l'anus sont moins souvent atteintes."},"de":{"name":"Pemphigus vulgaris","definition":"Eine seltene bullöse Autoimmunerkrankung der Haut, die durch schmerzhafte, schlaffe Blasen und Erosionen der Mundschleimhaut gekennzeichnet ist und vorwiegend den Wangenbereich betrifft, mit oder ohne Ausdehnung auf die Epidermis. Seltener sind die Schleimhäute des Kehlkopfes, der Speiseröhre, der Bindehaut, der Nase, der Genitalien und des Anus betroffen."},"es":{"name":"Pénfigo vulgar","definition":"Es una enfermedad cutánea ampollosa autoinmune poco frecuente caracterizada por ampollas flácidas dolorosas y erosiones de la mucosa oral, que afectan predominantemente a la zona bucal, y con o sin afectación de la epidermis. La mucosa de la laringe, el esófago, la conjuntiva, la nariz, los genitales y el ano se ven afectados con menor frecuencia."},"it":{"name":"Pemfigo volgare","definition":"Il pemfigo volgare è una malattia cutanea bollosa autoimmune rara caratterizzata da vesciche flaccide e dolorose, e da erosioni della mucosa orale, che colpiscono prevalentemente la bocca, con o senza interessamento dell'epidermide. Le mucose della laringe, dell'esofago, della congiuntiva, nel naso, dei genitali e dell'ano sono interessate più raramente."},"nl":{"name":"Pemphigus vulgaris","synonyms":["Gewone vorm van pemfigus"],"definition":"Een zeldzame auto-immune bulleuze huidaandoening, gekarakteriseerd door pijnlijke, slappe blaren en erosies van orale mucosa, met betrokkenheid van hoofdzakelijk wang, en met of zonder extensie naar epidermis. Slijmvlies van larynx, oesofagus, conjunctiva, neus, genitaliën en anus zijn minder vaak aangetast."},"pt":{"name":"Pênfigo vulgar"},"pl":{"name":"Pęcherzyca zwykła"},"cs":{"name":"Pemphigus vulgaris"},"uk":{"name":"Пухирчатка вульгарна","definition":"A rare autoimmune bullous skin diseases characterized by painful, flaccid blisters and erosions of the oral mucosa, predominantly involving the buccal area, and with or without extension to the epidermis. Mucosa of the larynx, oesophagus, conjunctiva, nose, genitalia and anus, are less frequently affected."},"zh":{"name":"寻常型天疱疮"},"tr":{"name":"Pemfigus vulgaris"}},"xrefs":[{"source":"OMIM","code":"169610","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"L10.0","qualifier":"E","icd_relation":"specific","validated":true},{"source":"ICD-11","code":"EB40.0","qualifier":"E","icd_relation":"specific","validated":true,"icd11_uri":"278358681"},{"source":"MONDO","code":"0008219","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0030809","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"4270","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10052802","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]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["Not applicable"],"onset":["Adult","Childhood","Elderly"],"prevalence":[{"type":"Annual incidence","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.13,"area":"France","status":"Validated","source":"7829889[PMID]"},{"type":"Point prevalence","qualification":"Value and class","class":"1-5 / 10 000","value":18.0,"area":"Europe","status":"Validated","source":"European Medicines Agency[OTHER]"},{"type":"Annual incidence","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.7,"area":"United Kingdom","status":"Validated","source":"18614511[PMID]"},{"type":"Annual incidence","qualification":"Value and class","class":"<1 / 1 000 000","value":0.076,"area":"Finland","status":"Validated","source":"6187153[PMID]"},{"type":"Annual incidence","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.47,"area":"Bulgaria","status":"Validated","source":"10692058[PMID]"},{"type":"Annual incidence","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.42,"area":"United States","status":"Validated","source":"7416755[PMID]"},{"type":"Annual incidence","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.25,"area":"Tunisia","status":"Validated","source":"7829889[PMID]"},{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 100 000","value":9.482,"area":"Germany","status":"Validated","source":"27456755[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2023-09-14","source":"32809695[PMID]_31819769[PMID]_36204194[PMID]","terms":[{"hpo":"HP:0100792","label":"Acantholysis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000987","label":"Atypical scarring of skin","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002960","label":"Autoimmunity","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0031446","label":"Erosion of oral mucosa","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0008872","label":"Feeding difficulties in infancy","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0200097","label":"Oral mucosal blisters","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0100838","label":"Recurrent cutaneous abscess formation","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002719","label":"Recurrent infections","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001025","label":"Urticaria","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001824","label":"Weight loss","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0008066","label":"Abnormal blistering of the skin","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:4000013","label":"Anti-desmoglein-1 antibody positivity","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:4000014","label":"Anti-desmoglein-3 antibody positivity","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000739","label":"Anxiety","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000716","label":"Depression","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0011968","label":"Feeding difficulties","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0034194","label":"Suprabasal cleavage","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002293","label":"Alopecia of scalp","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012531","label":"Pain","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0030351","label":"Urticarial plaque","frequency":"Very rare (<4-1%)","criteria":null}]}}