{"orpha":231568,"name":"Autosomal dominant generalized dystrophic epidermolysis bullosa","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Generalized DDEB"],"definition":"A rare dystrophic epidermolysis bullosa (DEB) characterized by generalized blistering, milia formation, atrophic scarring, and dystrophic nails.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-231568/","orphanet_url":"https://www.orpha.net/en/disease/detail/231568","names":{"fr":{"name":"Epidermolyse bulleuse dystrophique généralisée autosomique dominante","synonyms":["EBDD généralisée"],"definition":"Épidermolyse bulleuse dystrophique (EBD) rare caractérisée par la formation généralisée de bulles, de grains de milium, de cicatrices atrophiques, ainsi que par une dystrophie des ongles."},"de":{"name":"Epidermolysis bullosa, dystrophe, generalisierte, autosomal-dominante","synonyms":["DDEB vom Typ Pasini und Cockayne-Touraine","DDEB-gen","Epidermolysis bullosa, dystrophe, autosomal-dominante, Typ Pasini und Cockayne-Touraine","Generalisierte dominante EBD"],"definition":"Eine seltene Form der dystrophen Epidermolysis bullosa (DEB), die durch generalisierte Blasenbildung, Milienbildung, atrophische Narbenbildung und dystrophische Nägel gekennzeichnet ist."},"es":{"name":"Epidermólisis ampollosa distrófica generalizada autosómica dominante","synonyms":["DDEB generalizada","Epidermólisis bullosa distrófica generalizada autosómica dominante"],"definition":"Es una epidermólisis ampollosa distrófica (EAD) poco frecuente caracterizada por ampollas generalizadas, formación de milia, cicatrización atrófica y distrofia ungueal."},"it":{"name":"Epidermolisi bollosa distrofica generalizzata autosomica dominante","definition":"Si tratta di un'epidermolisi bollosa distrofica (DEB) rara, caratterizzata da vesciche generalizzate, milia, cicatrici atrofiche e distrofia ungueale."},"nl":{"name":"Autosomaal dominante gegeneraliseerde dystrofische epidermolysis bullosa","synonyms":["Gegeneraliseerde DDEB"],"definition":"Een zeldzame dystrofische epidermolysis bullosa (DEB), gekenmerkt door gegeneraliseerde blaarvorming, vorming van milia, atrofische littekenvorming, en dystrofische nagels."},"pt":{"name":"Epidermólise bolhosa distrófica generalizada autossómica dominante","definition":"Epidermólise bolhosa distrófica rara (DEB) caracterizada por vesículas generalizadas, formação de milia, cicatrizes atróficas e unhas distróficas."},"pl":{"name":"Pęcherzowe oddzielanie się naskórka uogólnione dystroficzne autosomalne dominująca","synonyms":["Autosomalne dominujące pęcherzowe oddzielanie się naskórka postać dystroficzna, typy Pasiniego i Cockayne'a i Touraine'a","Dystroficzne dominujące pęcherzowe oddzielanie się naskórka, postać uogólniona"]},"cs":{"name":"Generalizovaná dominantní epidermolysis bullosa dystrophica","synonyms":["DDEB, generalizovaná","DDEB-gen","Autozomálně dominantní epidermolysis bullosa dystrophica, Pasiniho a Cockayneův-Touraineův typ","DDEB, Pasiniho a Cockayneův-Touraineův typ","Autozomálně dominantní epidermolysis bullosa dystrophica, Pasiniho a Cockayne-Touraineův typ","DDEB, Pasiniho a Cockayne-Touraineův typ"]},"uk":{"name":"Аутосомно-домінантний генералізований дистрофічний бульозний епідермоліз","synonyms":["Узагальнений DDEB"],"definition":"A rare dystrophic epidermolysis bullosa (DEB) characterized by generalized blistering, milia formation, atrophic scarring, and dystrophic nails."},"zh":{"name":"全身性显性大疱性营养不良型表皮松解症","synonyms":["Pasini 和 Cockayne-Tourain型常染色体显性营养不良型大疱性表皮松解症"],"definition":"泛发型显性营养不良性大疱性表皮松解症（DDEB-gen）是营养不良性大疱性表皮松解症（DEB，见该词条）的一个亚型，以前被称为DDEB，Pasini和Cockayne-Touraine型，其特征是泛发性水疱、粟粒疹形成、萎缩性瘢痕和指甲营养不良。"},"tr":{"name":"Jeneralize dominant distrofik epidermolizis bülloza","synonyms":["DDEB-gen","DDEB, jeneralize","DDEB, Pasini ve Cockayne-Touraine tipleri","Otozomal dominant distrofik epidermolizis bülloza, Pasini ve Cockayne-Touraine tipleri"]}},"xrefs":[{"source":"OMIM","code":"131750","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q81.2","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"EC32","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1235671891"},{"source":"MONDO","code":"0007549","qualifier":"E","icd_relation":null,"validated":true},{"source":"MONDO","code":"7549","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5679846","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"2139","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[{"type":"Moved to","orpha":79407,"name":"Autosomal dominant dystrophic epidermolysis bullosa, Cockayne-Touraine type","status":"inactive"},{"type":"Moved to","orpha":216989,"name":"Autosomal dominant dystrophic epidermolysis bullosa, Pasini type","status":"inactive"}],"preferential_parent":{"orpha":89826,"name":"Rare skin disease"},"parents":[{"orpha":303,"name":"Dystrophic epidermolysis bullosa","classifications":[147,152,156,187,233]}],"children":[],"genes":[{"symbol":"COL7A1","name":"collagen type VII alpha 1 chain","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":null,"hgnc":"2214","ensembl":"ENSG00000114270","omim":"120120","loci":["3p21.31"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["Infancy","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":"2020-10-12","source":"20301481[PMID]_31065125[PMID]_29963685[PMID]","terms":[{"hpo":"HP:0008066","label":"Abnormal blistering of the skin","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000987","label":"Atypical scarring of skin","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0031045","label":"Acral blistering","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001810","label":"Dystrophic toenail","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001030","label":"Fragile skin","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001056","label":"Milia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0008404","label":"Nail dystrophy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001817","label":"Absent fingernail","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001802","label":"Absent toenail","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001075","label":"Atrophic scars","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0008391","label":"Dystrophic fingernails","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0031446","label":"Erosion of oral mucosa","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0200097","label":"Oral mucosal blisters","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0008390","label":"Recurrent loss of toenails and fingernails","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0200041","label":"Skin erosion","frequency":"Occasional (29-5%)","criteria":null}]}}