{"orpha":79402,"name":"Intermediate generalized junctional epidermolysis bullosa","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Generalized atrophic benign epidermolysis bullosa","Generalized junctional epidermolysis bullosa, non-Herlitz type","Intermediate generalized JEB","Junctional epidermolysis bullosa generalisata mitis","Junctional epidermolysis bullosa, Disentis type"],"definition":"A form of junctional epidermolysis bullosa (JEB) characterized by generalized skin blistering, atrophic scarring, nail dystrophy or nail absence, and enamel hypoplasia, with extracutaneous involvement.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-79402/","orphanet_url":"https://www.orpha.net/en/disease/detail/79402","names":{"fr":{"name":"Epidermolyse bulleuse jonctionnelle généralisée, forme intermédiaire","synonyms":["EBJ généralisée intermédiaire","Epidermolyse bulleuse jonctionnelle généralisée atrophique","Epidermolyse bulleuse jonctionnelle généralisée type non-Herlitz","Epidermolyse bulleuse jonctionnelle type Disentis"],"definition":"Forme d'épidermolyse bulleuse jonctionnelle (JEB) caractérisée par la formation généralisée de bulles, de cicatrices atrophiques, une dystrophie des ongles, voire une onychomadèse, et une hypoplasie de l'émail et une atteinte extracutanée."},"de":{"name":"Epidermolysis bullosa, junktionale, generalisierte intermediäre","synonyms":["Epidermolysis bullosa junctionalis generalisata mitis","Epidermolysis bullosa, atrophische benigne generalisierte","Epidermolysis bullosa, generalisierte junktionale, non-Herlitz Typ","Epidermolysis bullosa, junktionale, Typ Disentis","GABEB","JEB, generalisierte intermediäre","JEB-nH"],"definition":"Eine Form der junktionalen Epidermolysis bullosa (JEB), die durch generalisierte Hautblasenbildung, atrophische Narbenbildung, Nageldystrophie oder das Fehlen von Nägeln und Zahnschmelzhypoplasie mit extrakutaner Beteiligung gekennzeichnet ist."},"es":{"name":"Epidermólisis ampollosa juntural generalizada intermedia","synonyms":["Epidermólisis ampollosa generalizada atrófica benigna","Epidermólisis ampollosa juntural generalizada mitis","Epidermólisis ampollosa juntural generalizada tipo no Herlitz","Epidermólisis ampollosa juntural tipo Disentis","Epidermólisis bullosa juntural generalizada intermedia","GABEB","JEB generalizada intermedia"],"definition":"Es una forma de epidermólisis ampollosa juntural (EAJ) caracterizada por ampollas generalizadas en la piel, cicatrización atrófica, distrofia ungueal o ausencia de uñas e hipoplasia del esmalte, con afectación extracutánea."},"it":{"name":"Epidermolisi bollosa giunzionale generalizzata intermedia","synonyms":["Epidermolisi bollosa benigna atrofica generalizzata","Epidermolisi bollosa giunzionale generalizzata mite","Epidermolisi bollosa giunzionale generalizzata mitis","Epidermolisi bollosa giunzionale generalizzata, tipo non-Herlitz","Epidermolisi bollosa giunzionale, tipo Disentis","JEB generalizzata intermedia"],"definition":"Si tratta di una forma di epidermolisi bollosa giunzionale (JEB), caratterizzata da vesciche cutanee generalizzate, cicatrici atrofiche, distrofia/agenesia delle unghie, ipoplasia dello smalto e interessamento extracutaneo."},"nl":{"name":"Intermediaire gegeneraliseerde junctionele epidermolysis bullosa","synonyms":["Gegeneraliseerde atrofische goedaardige epidermolysis bullosa","Gegeneraliseerde junctionele epidermolysis bullosa, niet-Herlitz-type","Intermediaire gegeneraliseerde JEB","Junctionele epidermolysis bullosa generalisata mitis","Junctionele epidermolysis bullosa, Disentis-type"],"definition":"Een vorm van junctionele epidermolysis bullosa (JEB), gekenmerkt door gegeneraliseerde blaarvorming op huid, atrofische littekenvorming, nageldystrofie of afwezigheid van nagels, en hypoplasie van tandglazuur, met extracutane betrokkenheid."},"pt":{"name":"Epidermólise bolhosa junctional generalizada intermédia","synonyms":["Epidermólise bolhosa benigna atrófica generalizada","Epidermólise bolhosa juncional generalizada, tipo não-Herlitz","Epidermólise bolhosa juncional, tipo Disentis","Epidermólise bolhosa junctional generalizada, tipo não-Herlitz"],"definition":"Forma de epidermólise bolhosa juncional (EBJ) caracterizada por vesículas cutâneas generalizadas, cicatrizes atróficas, distrofia ungueal ou ausência ungueal e hipoplasia do esmalte, com envolvimento extracutâneo."},"pl":{"name":"Pęcherzowe oddzielanie się naskórka pośrednie graniczne","synonyms":["Pęcherzowe oddzielanie się naskórka postać łącząca, typ Disentis","Uogólnione zanikowe łagodne pęcherzowe oddzielanie się naskórka"]},"cs":{"name":"Generalizovaná junkční epidermolysis bullosa, non-Herlitzův typ","synonyms":["GABEB","Generalizovaná atrofická benigní epidermolysis bullosa","JEB-nH gen","Junkční epidermolysis bullosa generalisata mitis","Junkční epidermolysis bullosa, Disentisův typ"]},"uk":{"name":"Помірний генералізований межовий бульозний епідермоліз","synonyms":["Генералізований атрофічний доброякісний бульозний епідермоліз","Генералізований бульозний епідермоліз зєднання, не за типом Герліца","Проміжний узагальнений БЕЗ","Бульозний епідермоліз зєднання генералізований мітичний","Бульозний епідермоліз зєднання, тип Disentis"],"definition":"A form of junctional epidermolysis bullosa (JEB) characterized by generalized skin blistering, atrophic scarring, nail dystrophy or nail absence, and enamel hypoplasia, with extracutaneous involvement."},"zh":{"name":"交界型大疱性表皮松解症，中间型","synonyms":["泛发性交界性大疱性表皮松解症，非Herlitz型"]},"tr":{"name":"Junctional epidermolizis bülloza, orta jeneralize","synonyms":["GABEB","JEB-nH gen","JEB, jeneralize orta seviye","Kavşak epidermolizis bülloza, Disentis tipi","Jeneralize atrofik selim epidermolizis bülloza","Kavşak epidermolizis bülloza generalisata mitis","Jeneralize kavşak epidermolizis bülloza, Herlitz olmayan tip"]}},"xrefs":[{"source":"OMIM","code":"226650","qualifier":"NTBT","icd_relation":null,"validated":true},{"source":"OMIM","code":"619783","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"619785","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"619787","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"619816","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q81.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"EC31","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1027624622"},{"source":"MONDO","code":"0019307","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0432326","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[{"type":"Referred to","orpha":89840,"name":"OBSOLETE: Junctional epidermolysis bullosa, non-Herlitz type","status":"inactive"}],"preferential_parent":{"orpha":89826,"name":"Rare skin disease"},"parents":[{"orpha":305,"name":"Junctional epidermolysis bullosa","classifications":[147,156,187]},{"orpha":98027,"name":"Rare disease with odontological manifestation","classifications":[197]}],"children":[],"genes":[{"symbol":"COL17A1","name":"collagen type XVII alpha 1 chain","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"20301304[PMID]","hgnc":"2194","ensembl":"ENSG00000065618","omim":"113811","loci":["10q25.1"]},{"symbol":"ITGB4","name":"integrin subunit beta 4","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"10792571[PMID]_16473856[PMID]_20301304[PMID]","hgnc":"6158","ensembl":"ENSG00000132470","omim":"147557","loci":["17q25.1"]},{"symbol":"LAMA3","name":"laminin subunit alpha 3","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"20301304[PMID]","hgnc":"6483","ensembl":"ENSG00000053747","omim":"600805","loci":["18q11.2"]},{"symbol":"LAMB3","name":"laminin subunit beta 3","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"20301304[PMID]","hgnc":"6490","ensembl":"ENSG00000196878","omim":"150310","loci":["1q32.2"]},{"symbol":"LAMC2","name":"laminin subunit gamma 2","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"20301304[PMID]","hgnc":"6493","ensembl":"ENSG00000058085","omim":"150292","loci":["1q25.3"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Neonatal"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Worldwide","status":"Not yet validated","source":"ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":null,"terms":[{"hpo":"HP:0008066","label":"Abnormal blistering of the skin","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001000","label":"Abnormality of skin pigmentation","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001057","label":"Aplasia cutis congenita","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001075","label":"Atrophic scars","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001056","label":"Milia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0200097","label":"Oral mucosal blisters","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0004552","label":"Scarring alopecia of scalp","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002231","label":"Sparse body hair","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001903","label":"Anemia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001798","label":"Anonychia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0008404","label":"Nail dystrophy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0006297","label":"Enamel hypoplasia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001510","label":"Growth delay","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000982","label":"Palmoplantar keratoderma","frequency":"Occasional (29-5%)","criteria":null}]}}