{"orpha":79408,"name":"Autosomal recessive generalized dystrophic epidermolysis bullosa, severe form","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Autosomal recessive dystrophic epidermolysis bullosa generalisata gravis","Autosomal recessive dystrophic epidermolysis bullosa, Hallopeau-Siemens type","Generalized RDEB, severe form","RDEB generalisata gravis","RDEB, Hallopeau-Siemens type","Severe generalized RDEB"],"definition":"A severe form of dystrophic epidermolysis bullosa (DEB) characterized by generalized cutaneous and mucosal blistering and scarring associated with severe deformities and major extracutaneous involvement.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-79408/","orphanet_url":"https://www.orpha.net/en/disease/detail/79408","names":{"fr":{"name":"Epidermolyse bulleuse dystrophique généralisée autosomique récessive, forme sévère","synonyms":["EBDR généralisée, forme sévère","EBDR type Hallopeau-Siemens","Epidermolyse bulleuse dystrophique autosomique récessive type Hallopeau-Siemens"],"definition":"Forme sévère d'épidermolyse bulleuse dystrophique (DEB) caractérisée par la formation généralisée de bulles et de cicatrices cutanées et muqueuses associées à des déformations sévères et à une atteinte extracutanée majeure."},"de":{"name":"Epidermolysis bullosa, dystrophe, generalisierte schwere, autosomal-rezessive","synonyms":["Epidermolysis bullosa generalisata gravis, dystrophe, autosomal-rezessive Form","Epidermolysis bullosa, dystrophe, autosomal-rezessive, Typ Hallopeau-Siemens","RDEB Typ Hallopeau-Siemens","RDEB generalisata gravis","RDEB, generalisierte schwere","Schwere generalisierte rezessive DEB"],"definition":"Eine schwerer Subtyp der dystrophen Epidermolysis bullosa (DEB), der durch eine generalisierte Blasenbildung an Haut und Schleimhäuten und Narbenbildung in Verbindung mit schweren Fehlbildungen und einer starken extrakutanen Beteiligung gekennzeichnet ist."},"es":{"name":"Epidermólisis ampollosa distrófica generalizada grave autosómica recesiva","synonyms":["Epidermólisis ampollosa distrófica autosómica recesiva tipo Hallopeau-Siemens","Epidermólisis bullosa distrófica generalizada grave autosómica recesiva","RDEB generalizada grave","RDEB, tipo Hallopeau-Siemens"],"definition":"Es una forma grave de epidermólisis ampollosa distrófica (EAD) caracterizada por ampollas y cicatrices cutáneas y mucosas generalizadas asociadas a deformidades graves y afectación extracutánea importante."},"it":{"name":"Epidermolisi bollosa distrofica generalizzata autosomica recessiva, forma grave","synonyms":["Epidermolisi bollosa distrofica autosomica recessiva, tipo Hallopeau-Siemens","Epidermolisi bollosa distrofica recessiva generalizzata grave","RDEB generalizzata grave","RDEB generalizzata gravis","RDEB generalizzata, forma grave","RDEB, tipo Hallopeau-Siemens"],"definition":"Si tratta di una forma grave di epidermolisi bollosa distrofica (DEB), caratterizzata da vesciche e cicatrici generalizzate che interessano la cute e le mucose, associate a gravi deformità e a un significativo coinvolgimento extracutaneo."},"nl":{"name":"Autosomaal recessieve gegeneraliseerde dystrofische epidermolysis bullosa, ernstige vorm","synonyms":["Autosomaal recessieve dystrofische epidermolysis bullosa generalisata gravis","Autosomaal recessieve dystrofische epidermolysis bullosa, Hallopeau-Siemens-type","Ernstige gegeneraliseerde RDEB","Gegeneraliseerde RDEB, ernstige vorm","RDEB generalisata gravis","RDEB, Hallopeau-Siemens-type"],"definition":"Een ernstige vorm van dystrofische epidermolysis bullosa (DEB), gekenmerkt door gegeneraliseerde cutane en mucosale blaar- en littekenvorming, geassocieerd met ernstige misvormingen en aanzienlijke extracutane betrokkenheid."},"pt":{"name":"Epidermólise bolhosa distrófica generalizada autossómica recessiva, forma grave","synonyms":["Epidermólise bolhosa distrófica, autossómica recessiva, tipo Hallopeau-Siemens"],"definition":"Uma forma grave de epidermólise bolhosa distrófica (DEB) caracterizada por vesículas e cicatrizes cutâneas e mucosas generalizadas associadas a deformidades graves e extenso envolvimento extracutâneo."},"pl":{"name":"Pęcherzowe oddzielanie się naskórka uogólnione dystroficzne autosomalne recesywne, forma ciężka","synonyms":["Autosomalne recesywne pęcherzowe oddzielanie się naskórka, typ Hallopeau i Siemensa","Ciężkie uogólnione recesywne pęcherzowe oddzielanie się naskórka"]},"cs":{"name":"Těžká generalizovaná recesivní dystrofická epidermolysis bullosa","synonyms":["RDEB generalizata gravis","RDEB-sev gen","Autozomálně recesivní epidermolysis bullosa generalisata gravis","Autozomálně recesivní dystrofická epidermolysis bullosa, Hallopeauův-Siemensův typ","RDEB, Hallopeauův-Siemensův typ","Těžká generalizovaná RDEB","Autozomálně recesivní dystrofická epidermolysis bullosa, Hallopeau-Siemensův typ","RDEB, Hallopeau-Siemensův typ"]},"uk":{"name":"Аутосомно-рецесивний дистрофічний бульозний епідермоліз, важкий","synonyms":["Аутосомно-рецесивний дистрофічний бульозний епідермоліз (bullosa generalisata gravis)","Аутосомно-рецесивний дистрофічний бульозний епідермоліз, тип Халлопо-Сіменса","Генералізований РДБЕ, важка форма","РДБЕ generalisata gravis","РДБЕ, тип Халлопо-Сіменса","Тяжкий генералізований РДБЕ"],"definition":"A severe form of dystrophic epidermolysis bullosa (DEB) characterized by generalized cutaneous and mucosal blistering and scarring associated with severe deformities and major extracutaneous involvement."},"zh":{"name":"重度全身性隐性营养不良性大疱性表皮松解症","synonyms":["常染色体隐性遗传性营养不良性大疱性表皮松解症，Hallopeau-Siemens型"]},"tr":{"name":"Ağır jeneralize resesif distrofik epidermolizis bülloza","synonyms":["RDEB-sev gen","Ağır jeneralize RDEB","RDEB generalisata gravis","RDEB, Hallopeau-Siemens tipi","Otozomal Çekinik distrofik epidermoliz bülloza generalisata gravis","Otozomal Çekinik distrofik epidermoliz bülloza, Hallopeau-Siemens tipi"]}},"xrefs":[{"source":"OMIM","code":"226600","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":"365362994"},{"source":"MONDO","code":"0009179","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4510043","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"6308","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]},{"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"]},{"symbol":"MMP1","name":"matrix metallopeptidase 1","gene_type":"gene with protein product","association":"Modifying germline mutation in","status":"Not yet assessed","source":null,"hgnc":"7155","ensembl":"ENSG00000196611","omim":"120353","loci":["11q22.2"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Neonatal"],"prevalence":[{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.3,"area":"United States","status":"Validated","source":"31920360[PMID]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 100 000","value":1.3,"area":"Europe","status":"Validated","source":"31920360[PMID]"},{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.963,"area":"Europe","status":"Validated","source":"31920360[PMID]_ORPHANET"},{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.2222,"area":"United States","status":"Validated","source":"31920360[PMID]_ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2020-06-19","source":"24690439[PMID]_20301481[PMID]","terms":[{"hpo":"HP:0008066","label":"Abnormal blistering of the skin","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001903","label":"Anemia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001075","label":"Atrophic scars","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000670","label":"Carious teeth","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0012532","label":"Chronic pain","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001371","label":"Flexion contracture","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001030","label":"Fragile skin","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0004386","label":"Gastrointestinal inflammation","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001510","label":"Growth delay","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001056","label":"Milia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0004057","label":"Mitten deformity","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0200097","label":"Oral mucosal blisters","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000478","label":"Abnormality of the eye","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001965","label":"Abnormality of the scalp","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001798","label":"Anonychia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000739","label":"Anxiety","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0032676","label":"Chronic cutaneous wound","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000716","label":"Depression","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0031446","label":"Erosion of oral mucosa","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0011354","label":"Generalized abnormality of skin","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001891","label":"Iron deficiency anemia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0008404","label":"Nail dystrophy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002860","label":"Squamous cell carcinoma","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0031903","label":"Abnormal circulating selenium concentration","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100508","label":"Abnormality of vitamin metabolism","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:0001057","label":"Aplasia cutis congenita","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012622","label":"Chronic kidney disease","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0200020","label":"Corneal erosion","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012056","label":"Cutaneous melanoma","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0011936","label":"Decreased plasma total carnitine","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0031831","label":"Decreased serum zinc","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000823","label":"Delayed puberty","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001644","label":"Dilated cardiomyopathy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002015","label":"Dysphagia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0004791","label":"Esophageal ulceration","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0008366","label":"Foot joint contracture","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002020","label":"Gastroesophageal reflux","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000099","label":"Glomerulonephritis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000794","label":"IgA deposition in the glomerulus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100512","label":"Low levels of vitamin D","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0004395","label":"Malnutrition","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000160","label":"Narrow mouth","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000938","label":"Osteopenia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000939","label":"Osteoporosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001581","label":"Recurrent skin infections","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001917","label":"Renal amyloidosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000083","label":"Renal insufficiency","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012227","label":"Urethral stricture","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002839","label":"Urinary bladder sphincter dysfunction","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000572","label":"Visual loss","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000079","label":"Abnormality of the urinary system","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0031464","label":"Genital blistering","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0012252","label":"Abnormal respiratory system morphology","frequency":"Excluded (0%)","criteria":null},{"hpo":"HP:0002671","label":"Basal cell carcinoma","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}]}}