{"orpha":412181,"name":"Epidermolysis bullosa simplex due to BP230 deficiency","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["DST-related epidermolysis bullosa simplex","EBS due to BP230 deficiency"],"definition":"A rare, inherited, epidermolysis bullosa simplex characterized by mild, predominantly acral, trauma-induced skin fragility, resulting in blisters. Blisters mostly affect the feet, including the dorsal side.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-412181/","orphanet_url":"https://www.orpha.net/en/disease/detail/412181","names":{"fr":{"name":"Epidermolyse bulleuse simple par déficit en BP230","synonyms":["EBS par déficit en BP230","Epidermolyse bulleuse simple associée à DST"],"definition":"Epidermolyse bulleuse simple rare et héréditaire, caractérisée par une légère fragilité cutanée induite par un traumatisme, à prédominance acrale, provoquant des cloques. Ces dernières touchent principalement les pieds, y compris la face dorsale."},"de":{"name":"Epidermolysis bullosa simplex durch BP230-Mangel","synonyms":["EBS durch BP230-Defizienz","Epidermolysis bullosa simplex, DST-assoziierte"],"definition":"Eine hereditäre Form der Epidermolysis bullosa simplex, die durch eine leichte, vorwiegend akrale, traumabedingte Hautbrüchigkeit gekennzeichnet ist, die zu Blasen führt. Die Blasen treten meist an den Füßen auf, auch auf der Rückenseite."},"es":{"name":"Epidermólisis ampollosa simple por deficiencia de BP230","synonyms":["EBS por deficiencia de BP230","Epidermólisis ampollosa simple asociada a DST","Epidermólisis bullosa simple por deficiencia de BP230"],"definition":"Es una epidermólisis ampollosa simple, poco frecuente y hereditaria, caracterizada por leve fragilidad cutánea de predominio acral que da lugar a ampollas que afectan preferentemente a los pies, incluida la cara dorsal."},"it":{"name":"Epidermolisi bollosa semplice da deficit di BP230","synonyms":["EBS da deficit di BP230","Epidermolisi bollosa semplice DST-correlata"],"definition":"Si tratta di un'epidermolisi bollosa semplice ereditaria rara, caratterizzata da una lieve fragilità della cute, prevalentemente nella regione acrale, indotta dai traumi, con la conseguente formazione di vesciche, localizzate soprattutto sui piedi, compreso il dorso."},"nl":{"name":"Epidermolysis bullosa simplex door BP230-deficiëntie","synonyms":["DST-gerelateerde epidermolysis bullosa simplex","EBS door BP230-deficiëntie"],"definition":"Een zeldzame, erfelijke epidermolysis bullosa simplex, gekenmerkt door milde, voornamelijk acrale, door trauma geïnduceerde fragiliteit van huid, met blaarvorming tot gevolg. Blaren treffen meestal de voeten, inclusief de dorsale zijde."},"pt":{"name":"Epidermólise bolhosa simples por deficiência BP230"},"pl":{"name":"Postać prosta pęcherzowego oddzielania się naskórka spowodowana niedoborem BP230","synonyms":["Postać prosta pęcherzowego oddzielania się naskórka związana z DST"]},"cs":{"name":"Epidermolysis bullosa simplex způsobená deficitem BP230","synonyms":["DST-vázaná epidermolysis bullosa simplex","EBS-AR BP230"]},"uk":{"name":"Простий бульозний епідермоліз, зумовлений дефіцитом BP230","synonyms":["Простий бульозний епідермоліз, повязаний з ДСТ","ПБЕ через дефіцит BP230"],"definition":"A rare, inherited, epidermolysis bullosa simplex characterized by mild, predominantly acral, trauma-induced skin fragility, resulting in blisters. Blisters mostly affect the feet, including the dorsal side."},"zh":{"name":"BP230缺陷所致单纯型大疱性表皮松解","synonyms":["与DST相关的表皮松解性大疱"],"definition":"由于BP230缺乏而导致的单纯型大疱性表皮松解症是一种罕见的，遗传性的，基底单纯型大疱性表皮松解症，其特征是轻度（主要是急性）创伤引起的皮肤脆弱，导致水泡形成。主要是脚部水泡（包括背侧），并且通常几厘米大。"},"tr":{"name":"BP230 eksikliğine bağlı epidermolizis bülloza simpleks","synonyms":["EBS-AR BP230","DST-ilişkili epidermolizis bülloza simpleks"]}},"xrefs":[{"source":"OMIM","code":"615425","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q81.0","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"EC30","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1762624893"},{"source":"MONDO","code":"0014180","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4750917","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":89826,"name":"Rare skin disease"},"parents":[{"orpha":595346,"name":"Epidermolysis bullosa simplex without extracutaneous involvement","classifications":[156,187]}],"children":[],"genes":[{"symbol":"DST","name":"dystonin","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"22113475[PMID]","hgnc":"1090","ensembl":"ENSG00000151914","omim":"113810","loci":["6p12.1"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Adult"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":2.0,"area":"Worldwide","status":"Validated","source":"20164846[PMID]_22113475[PMID]_24690439[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_20164846[PMID]_22113475[PMID]_24690439[PMID]"}],"phenotypes":null}