{"orpha":89842,"name":"Autosomal recessive generalized dystrophic epidermolysis bullosa, intermediate form","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Autosomal recessive dystrophic epidermolysis bullosa generalisata mitis","Autosomal recessive dystrophic epidermolysis bullosa, non-Hallopeau-Siemens type","Generalized RDEB, intermediate form","RDEB, non-Hallopeau-Siemens type"],"definition":"A rare dystrophic epidermolysis bullosa (DEB) characterized by generalized cutaneous and mucosal blistering that is not associated with severe deformities.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-89842/","orphanet_url":"https://www.orpha.net/en/disease/detail/89842","names":{"fr":{"name":"Epidermolyse bulleuse dystrophique généralisée autosomique récessive, forme intermédiaire","synonyms":["EBDR généralisée, forme intermédiaire","EBDR type non-Hallopeau-Siemens","Epidermolyse bulleuse dystrophique autosomique récessive type non-Hallopeau-Siemens"],"definition":"Épidermolyse bulleuse dystrophique (EBD) rare caractérisée par la formation généralisée de bulles sur la peau et les muqueuses, non associée à des malformations sévères."},"de":{"name":"Epidermolysis bullosa, dystrophe, generalisierte, autosomal-rezessive, intermediäre Form","synonyms":["Epidermolysis bullosa, dystrophe, rezessive, non-Hallopeau-Siemens Typ","RDEB Typ non-Hallopeau-Siemens","RDEB generalisata mitis","RDEB, generalisiert intermediär"],"definition":"Eine seltene Form der dystrophen Epidermolysis bullosa (DEB), die durch eine generalisierte Blasenbildung der Haut und Schleimhäute gekennzeichnet ist, die aber nicht mit schweren Fehlbildungen einhergeht."},"es":{"name":"Epidermólisis ampollosa distrófica generalizada intermedia autosómica recesiva","synonyms":["Epidermólisis ampollosa distrófica autosómica recesiva tipo no Hallopeau-Siemens","Epidermólisis ampollosa distrófica generalizada mitis autosómica recesiva","Epidermólisis bullosa distrófica generalizada intermedia autosómica recesiva","RDEB generalizada forma intermedia","RDEB tipo no Hallopeau-Siemens"],"definition":"Es una epidermólisis ampollosa distrófica (EAD) poco frecuente caracterizada por ampollas generalizadas en la piel y las mucosas que no se asocia con deformidades graves."},"it":{"name":"Epidermolisi bollosa distrofica generalizzata autosomica recessiva, forma intermedia","synonyms":["Epidermolisi bollosa distrofica generalizzata mite autosomica recessiva","Epidermolisi bollosa distrofica recessiva, tipo non-Hallopeau-Siemens","RDEB generalizzata, forma intermedia","RDEB, tipo non-Hallopeau-Siemens"],"definition":"Si tratta di un'epidermolisi bollosa distrofica (DEB) rara, caratterizzata da vesciche generalizzate della cute e delle mucose, non associate a deformità gravi."},"nl":{"name":"Autosomaal recessieve gegeneraliseerde dystrofische epidermolysis bullosa, intermediaire vorm","synonyms":["Autosomaal recessieve dystrofische epidermolysis bullosa generalisata mitis","Autosomaal recessieve dystrofische epidermolysis bullosa, niet-Hallopeau-Siemens-type","Gegeneraliseerde RDEB, intermediaire vorm","RDEB, niet-Hallopeau-Siemens-type"],"definition":"Een zeldzame dystrofische epidermolysis bullosa (DEB), gekenmerkt door gegeneraliseerde cutane en mucosale blaarvorming die niet geassocieerd is met ernstige misvormingen."},"pt":{"name":"Epidermólise bolhosa distrófica generalizada autossómica recessiva, forma intermédia","definition":"Epidermólise bolhosa distrófica rara (EBD) caracterizada por vesículas cutâneas e mucosas generalizadas que não está associada a deformidades graves."},"pl":{"name":"Autosomalne recesywne uogólnione oddzielanie się naskórka, forma pośrednia","synonyms":["Autosomalne recesywne dystroficzna pęcherzowe oddzielanie naskórka, uogólnione inne","Autosomalne recesywne dystroficzne pęcherzowe oddzielanie naskórka, pośrednie","Recesywne pęcherzowe oddzielanie się naskórka, postać dystroficzna typu non-Hallopeau i Siemensa"]},"cs":{"name":"Recesivní dystrofická epidermolysis bullosa-generalizovaná jiná","synonyms":["Generalizovaná mitis RDEB","RDEB generalisata mitis","RDEB-O","RDEB-generalizovaná","Autozomálně recesivní dystrofická epidermolysis bullosa generalisata mitis","Autozomálně recesivní dystrofická epidermolysis bullosa, generalizovaná","RDEB, non-Hallopeauův-Siemensův typ","Recesivní dystrofická epidermolysis bullosa, non-Hallopeauův-Siemensův typ","RDEB, non-Hallopeau-Siemensův typ","Recesivní dystrofická epidermolysis bullosa, non-Hallopeau-Siemensův typ"]},"uk":{"name":"Аутосомно-рецесивний генералізований дистрофічний бульозний епідермоліз, помірно виражена форма","synonyms":["Аутосомно-рецесивний дистрофічний бульозний епідермоліз (bullosa generalisata mitis)","Аутосомно-рецесивний дистрофічний бульозний епідермоліз, не тип Галлопо-Сіменса","Узагальнена РДБЕ, проміжна форма","РДБЕ, не типу Галлопа-Сіменса"],"definition":"A rare dystrophic epidermolysis bullosa (DEB) characterized by generalized cutaneous and mucosal blistering that is not associated with severe deformities."},"zh":{"name":"隐性营养不良型大疱性表皮松解症，全身型中间型","synonyms":["泛发性常染色体隐性遗传性营养不良型大疱性表皮松解症"]},"tr":{"name":"Resesif distrofik epidermolizis bülloza, orta jeneralize","synonyms":["RDEB-O","Jeneralize mitis RDEB","RDEB-jeneralize diğer","RDEB generalisata mitis","RDEB, jeneralize ara","RDEB, Hallopeau olmayan Siemens tipi","Çekinik distrofik epidermolizis bülloza-jeneralize diğer","Çekinik distrofik epidermolizis bülloza, Hallopeau-Siemens tipi olmayan","Otozomal çekinik distrofik epidermolizis bülloza generalisata mitis","Otozomal çekinik distrofik epidermolizis bülloza, jeneralize diğer"]}},"xrefs":[{"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":"576052816"},{"source":"UMLS","code":"C4511044","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"12794","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[{"type":"Referred to","orpha":89841,"name":"OBSOLETE: Centripetalis recessive dystrophic epidermolysis bullosa","status":"inactive"}],"preferential_parent":{"orpha":89826,"name":"Rare skin disease"},"parents":[{"orpha":303,"name":"Dystrophic epidermolysis bullosa","classifications":[147,152,156,187,233]},{"orpha":519288,"name":"Rare disorder with corneal involvement as a major feature","classifications":[189]},{"orpha":522558,"name":"Rare genetic disorder with corneal involvement as a major feature","classifications":[156]}],"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":["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":"2020-09-07","source":"31487386[PMID]_20301481[PMID]","terms":[{"hpo":"HP:0008066","label":"Abnormal blistering of the skin","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0031903","label":"Abnormal circulating selenium concentration","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001903","label":"Anemia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000987","label":"Atypical scarring of skin","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0004325","label":"Decreased body weight","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001030","label":"Fragile skin","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001510","label":"Growth delay","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002031","label":"Abnormal esophagus morphology","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000670","label":"Carious teeth","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0032676","label":"Chronic cutaneous wound","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002019","label":"Constipation","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003234","label":"Decreased circulating carnitine concentration","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0040303","label":"Decreased serum iron","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0031831","label":"Decreased serum zinc","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002015","label":"Dysphagia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0010450","label":"Esophageal stenosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002043","label":"Esophageal stricture","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001508","label":"Failure to thrive","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0011968","label":"Feeding difficulties","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002020","label":"Gastroesophageal reflux","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003073","label":"Hypoalbuminemia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0007400","label":"Irregular hyperpigmentation","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0100512","label":"Low levels of vitamin D","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0004395","label":"Malnutrition","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001056","label":"Milia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001581","label":"Recurrent skin infections","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003202","label":"Skeletal muscle atrophy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0200041","label":"Skin erosion","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001802","label":"Absent toenail","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012390","label":"Anal fissure","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0010296","label":"Ankyloglossia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001798","label":"Anonychia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000739","label":"Anxiety","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001057","label":"Aplasia cutis congenita","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0200020","label":"Corneal erosion","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000823","label":"Delayed puberty","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000716","label":"Depression","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001644","label":"Dilated cardiomyopathy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001371","label":"Flexion contracture","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0011471","label":"Gastrostomy tube feeding in infancy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0004057","label":"Mitten deformity","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002164","label":"Nail dysplasia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000160","label":"Narrow mouth","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003764","label":"Nevus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000572","label":"Visual loss","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002860","label":"Squamous cell carcinoma","frequency":"Very rare (<4-1%)","criteria":null}]}}