{"orpha":79409,"name":"Recessive dystrophic epidermolysis bullosa inversa","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["RDEB inversa","RDEB-I"],"definition":"A rare subtype of dystrophic epidermolysis bullosa (DEB) characterized by blisters and erosions which from adolescence or early adulthood are primarily confined to flexural skin sites.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-79409/","orphanet_url":"https://www.orpha.net/en/disease/detail/79409","names":{"fr":{"name":"Epidermolyse bulleuse dystrophique inversée autosomique récessive","synonyms":["EBDR inversée"],"definition":"Sous-type rare d'épidermolyse bulleuse dystrophique (EDB) caractérisé par la formation, à partir de l'adolescence ou du début de l'âge adulte, de bulles et d'érosions principalement confinées aux zones intertrigineuses."},"de":{"name":"Epidermolysis bullosa inversa, dystrophe, rezessive","synonyms":["Inverse rezessive DEB","Inverse rezessive dystrophe Epidermolysis bullosa","RDEB inversa","RDEB-I"],"definition":"Ein seltener Subtyp der dystrophen Epidermolysis bullosa (DEB), der durch Blasen und Erosionen gekennzeichnet ist, die sich ab dem Jugend- oder frühen Erwachsenenalter hauptsächlich auf die beugenden Hautstellen beschränken."},"es":{"name":"Epidermólisis ampollosa distrófica invertida recesiva","synonyms":["Epidermólisis ampollosa distrófica invertida autosómica recesiva","Epidermólisis bullosa distrófica invertida recesiva","RDEB invertida"],"definition":"Es un subtipo poco frecuente de epidermólisis ampollosa distrófica (EAD) caracterizado por ampollas y erosiones de inicio en la adolescencia o la edad adulta temprana que se localizan, principalmente, en las áreas de flexión de la piel."},"it":{"name":"Epidermolisi bollosa inversa distrofica recessiva","synonyms":["Epidermolisi bollosa distrofica recessiva inversa","Epidermolisi bollosa inversa distrofica autosomica recessiva","RDEB inversa","RDEB-I"],"definition":"Si tratta di un sottotipo raro di epidermolisi bollosa distrofica (DEB), caratterizzato da vesciche ed erosioni che esordiscono durante l'adolescenza o la prima età adulta, e interessano prevalentemente le aree flessorie della cute."},"nl":{"name":"Recessieve dystrofische epidermolysis bullosa inversa","synonyms":["RDEB inversa","RDEB-I"],"definition":"Een zeldzaam subtype van dystrofische epidermolysis bullosa (DEB), gekenmerkt door blaren en erosies die vanaf de adolescentie of vroege volwassenheid hoofdzakelijk beperkt blijven tot huid aan buigzijden."},"pt":{"name":"Epidermólise bolhosa distrófica recessiva inversa","synonyms":["RDEB-I"],"definition":"Um subtipo raro de epidermólise bolhosa distrófica (EBD) caracterizado por vesículas e erosões que, desde a adolescência ou no início na idade adulta, se limitam principalmente aos locais de flexão da pele."},"pl":{"name":"Pęcherzowe oddzielanie się naskórka dystroficzne odwrócone","synonyms":["Dystroficzne pęcherzowe oddzielanie się naskórka odwrócone","Odwrócone recesywne dystroficzne pęcherzowe oddzielanie się naskórka"]},"cs":{"name":"Recesivní dystrofická epidermolysis bullosa inversa","synonyms":["Dystrofická epidermolysis bullosa inversa","Inverzní RDEB","Inverzní recesivní dystrofická epidermolysis bullosa","RDEB-I"]},"uk":{"name":"Рецесивний дистрофічний бульозний епідермоліз інверсний","synonyms":["РДБЕ inversa","РДБЕ-I"],"definition":"A rare subtype of dystrophic epidermolysis bullosa (DEB) characterized by blisters and erosions which from adolescence or early adulthood are primarily confined to flexural skin sites."},"zh":{"name":"隐性营养不良性大疱性表皮松解症，相反型","synonyms":["反向性隐性营养不良性大疱性表皮松解症"]},"tr":{"name":"Resesif distrofik epidermolizis bülloza inversa","synonyms":["RDEB-I","Ters RDEB","Distrofik epidermolizis bülloza inversa","Ters Çekinik distrofik epidermolizis bülloza"]}},"xrefs":[{"source":"OMIM","code":"226600","qualifier":"NTBT","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":"495465277"},{"source":"MONDO","code":"0019310","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1275113","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"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 recessive"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":100.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2020-06-22","source":"24690439[PMID]_20301481[PMID]","terms":[{"hpo":"HP:0001030","label":"Fragile skin","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0008066","label":"Abnormal blistering of the skin","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000079","label":"Abnormality of the urinary system","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001798","label":"Anonychia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001075","label":"Atrophic scars","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000670","label":"Carious teeth","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0004386","label":"Gastrointestinal inflammation","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0031464","label":"Genital blistering","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0011355","label":"Localized skin lesion","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:0200097","label":"Oral mucosal blisters","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001903","label":"Anemia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002043","label":"Esophageal stricture","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001510","label":"Growth delay","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0004057","label":"Mitten deformity","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0007446","label":"Palmoplantar blistering","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000402","label":"Stenosis of the external auditory canal","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012227","label":"Urethral stricture","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0025416","label":"Vaginal stricture","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012252","label":"Abnormal respiratory system morphology","frequency":"Excluded (0%)","criteria":null},{"hpo":"HP:0000478","label":"Abnormality of the eye","frequency":"Excluded (0%)","criteria":null},{"hpo":"HP:0001965","label":"Abnormality of the scalp","frequency":"Excluded (0%)","criteria":null},{"hpo":"HP:0002671","label":"Basal cell carcinoma","frequency":"Excluded (0%)","criteria":null},{"hpo":"HP:0012056","label":"Cutaneous melanoma","frequency":"Excluded (0%)","criteria":null},{"hpo":"HP:0006297","label":"Enamel hypoplasia","frequency":"Excluded (0%)","criteria":null},{"hpo":"HP:0000982","label":"Palmoplantar keratoderma","frequency":"Excluded (0%)","criteria":null},{"hpo":"HP:0002860","label":"Squamous cell carcinoma","frequency":"Excluded (0%)","criteria":null}]}}