{"orpha":79404,"name":"Severe generalized junctional epidermolysis bullosa","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Epidermolysis bullosa letalis","JEB-H","Junctional epidermolysis bullosa generalisata gravis","Junctional epidermolysis bullosa, Herlitz type","Junctional epidermolysis bullosa, Herlitz-Pearson type","Severe generalized JEB"],"definition":"A severe form of junctional epidermolysis bullosa (JEB) characterized by blisters and extensive erosions, localized to the skin and mucous membranes.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-79404/","orphanet_url":"https://www.orpha.net/en/disease/detail/79404","names":{"fr":{"name":"Epidermolyse bulleuse jonctionnelle généralisée sévère","synonyms":["EBJ généralisée sévère","EBJ-H","Epidermolyse bulleuse jonctionnelle létale","Epidermolyse bulleuse jonctionnelle type Herlitz","Epidermolyse bulleuse jonctionnelle type Herlitz-Pearson"],"definition":"Forme sévère d'épidermolyse bulleuse jonctionnelle (EBJ) caractérisée par la formation de bulles et d'érosions étendues, localisées sur la peau et les muqueuses."},"de":{"name":"Epidermolysis bullosa, junctionale, generalisierte schwere","synonyms":["Epidermolysis bullosa junctionalis generalisata gravis","Epidermolysis bullosa junctionalis, Herlitz","Epidermolysis bullosa junctionalis, Typ Herlitz-Pearson","Epidermolysis bullosa letalis","Epidermolysis bullosa, junktionale, Typ Herlitz","JEB, generalisierte schwere","JEB-H"],"definition":"Eine schwere Form der junktionalen Epidermolysis bullosa (JEB), die durch Blasen und ausgedehnte Erosionen auf der Haut und den Schleimhäuten gekennzeichnet ist."},"es":{"name":"Epidermólisis ampollosa juntural generalizada grave","synonyms":["Epidermólisis ampollosa juntural tipo Herlitz","Epidermólisis ampollosa juntural tipo Herlitz-Pearson","Epidermólisis ampollosa letal","Epidermólisis bullosa juntural generalizada grave","JEB generalizada grave"],"definition":"Es una forma grave de epidermólisis ampollosa juntural (EAJ) caracterizada por ampollas y erosiones extensas, localizadas en la piel y en las membranas mucosas."},"it":{"name":"Epidermolisi bollosa giunzionale generalizzata grave","synonyms":["Epidermolisi bollosa giunzionale generalizzata gravis","Epidermolisi bollosa giunzionale, tipo Herlitz","Epidermolisi bollosa giunzionale, tipo Herlitz-Pearson","Epidermolisi bollosa letale","JEB generalizzata grave","JEB-H"],"definition":"Si tratta di una forma grave di epidermolisi bollosa giunzionale (JEB), caratterizzata da vesciche ed erosioni estese, che interessano la cute e le mucose."},"nl":{"name":"Ernstige gegeneraliseerde junctionele epidermolysis bullosa","synonyms":["Ernstige gegeneraliseerde JEB","JEB-H","Junctionele epidermolysis bullosa generalisata gravis","Junctionele epidermolysis bullosa, Herlitz-Pearson-type","Junctionele epidermolysis bullosa, Herlitz-type","Epidermolysis bullosa letalis"],"definition":"Een ernstige vorm van junctionele epidermolysis bullosa (JEB), gekenmerkt door blaren en omvangrijke erosies gesitueerd op huid en slijmvlies."},"pt":{"name":"Epidermólise bolhosa junctional generalizada grave","synonyms":["Epidermólise bolhosa juncional tipo Herlitz","Epidermólise bolhosa letal","JEB-H"],"definition":"Forma grave de epidermólise bolhosa juncional (EBJ) caracterizada por vesículas e erosões cutâneas extensas, localizadas na pele e nas membranas mucosas."},"pl":{"name":"Pęcherzowe oddzielanie się naskórka ciężkie uogólnione graniczne","synonyms":["Pęcherzowe oddzielanie się naskórka łączące, typ Herlitz i Pearsona","Pęcherzowe oddzielanie się naskórka, postać śmiertelna"]},"cs":{"name":"Junkční epidermolysis bullosa, Herlitzův typ","synonyms":["Epidermolysis bullosa letalis","JEB-H","Junkční epidermolysis bullosa generalisata gravis","Junkční epidermolysis bullosa, Herlitzův-Pearsonův typ","Junkční epidermolysis bullosa, Herlitz-Pearsonův typ"]},"uk":{"name":"Важкий генералізований межовий бульозний епідермоліз","synonyms":["Бульозний епідермоліз летальний","БЕЗ-H","Генералізований бульозний епідермоліз зєднання (bullosa generalisata gravis)","Бульозний епідермоліз зєднання, тип Герліца","Бульозний епідермоліз зєднання, тип Герліца-Пірсона","Тяжкий генералізований БЕЗ"],"definition":"A severe form of junctional epidermolysis bullosa (JEB) characterized by blisters and extensive erosions, localized to the skin and mucous membranes."},"zh":{"name":"交界型大疱性表皮松解症，重度全身型","synonyms":["交界型大疱性表皮松解症，Herlitz-Pearson型"]},"tr":{"name":"Junctional epidermolizis bülloza, ağır jeneralize","synonyms":["JEB-H","JEB, jeneralize ağır","Epidermolizis bülloza letalis","Kavşak epidermolizis bülloza, Herlitz tipi","Kavşak epidermolizis bülloza generalisata gravis","Kavşak epidermolizis bülloza, Herlitz-Pearson tipi"]}},"xrefs":[{"source":"OMIM","code":"226700","qualifier":"E","icd_relation":null,"validated":true},{"source":"OMIM","code":"619786","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q81.1","qualifier":"E","icd_relation":"specific","validated":true},{"source":"ICD-11","code":"EC31","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1267734927"},{"source":"MONDO","code":"0009182","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0079683","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"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]},{"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":"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":["Infancy","Neonatal"],"prevalence":[{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.17,"area":"Worldwide","status":"Validated","source":"ORPHANET"},{"type":"Prevalence at birth","qualification":"Value and class","class":"<1 / 1 000 000","value":0.04,"area":"United States","status":"Validated","source":"[EXPERT]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.4,"area":"Netherlands","status":"Validated","source":"21801158[PMID]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"<1 / 1 000 000","value":0.07,"area":"Italy","status":"Validated","source":"[EXPERT]"},{"type":"Point prevalence","qualification":"Class only","class":"1-9 / 1 000 000","value":0.0,"area":"Europe","status":"Not yet validated","source":"ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2020-06-15","source":"20301304[PMID]_27375110[PMID]_22512697[PMID]","terms":[{"hpo":"HP:0008066","label":"Abnormal blistering of the skin","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001597","label":"Abnormal nail morphology","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0011830","label":"Abnormal oral mucosa morphology","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0006297","label":"Enamel hypoplasia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001508","label":"Failure to thrive","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:0020117","label":"Hypoplastic dermoepidermal hemidesmosomes","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001581","label":"Recurrent skin infections","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0200041","label":"Skin erosion","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0200035","label":"Skin plaque","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001211","label":"Abnormal fingertip morphology","frequency":"Frequent (79-30%)","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:0002094","label":"Dyspnea","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0031446","label":"Erosion of oral mucosa","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001609","label":"Hoarse voice","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0004395","label":"Malnutrition","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001818","label":"Paronychia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0010307","label":"Stridor","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003111","label":"Abnormal blood ion concentration","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000481","label":"Abnormal cornea morphology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000014","label":"Abnormality of the bladder","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002087","label":"Abnormality of the upper respiratory tract","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001596","label":"Alopecia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001057","label":"Aplasia cutis congenita","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0010476","label":"Aplasia/Hypoplasia of the bladder","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002019","label":"Constipation","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001944","label":"Dehydration","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001644","label":"Dilated cardiomyopathy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000081","label":"Duplicated collecting system","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100518","label":"Dysuria","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000969","label":"Edema","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002043","label":"Esophageal stricture","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0004386","label":"Gastrointestinal inflammation","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001615","label":"Hoarse cry","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000126","label":"Hydronephrosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000072","label":"Hydroureter","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001602","label":"Laryngeal stenosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0004057","label":"Mitten deformity","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000003","label":"Multicystic kidney dysplasia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0008404","label":"Nail dystrophy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000939","label":"Osteoporosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002090","label":"Pneumonia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000010","label":"Recurrent urinary tract infections","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000107","label":"Renal cyst","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0008682","label":"Renal tubular epithelial necrosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002098","label":"Respiratory distress","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002878","label":"Respiratory failure","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100806","label":"Sepsis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002860","label":"Squamous cell carcinoma","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001955","label":"Unexplained fevers","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0006000","label":"Ureteral obstruction","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000070","label":"Ureterocele","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012227","label":"Urethral stricture","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000016","label":"Urinary retention","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002013","label":"Vomiting","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001662","label":"Bradycardia","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0002107","label":"Pneumothorax","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0000999","label":"Pyoderma","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0001250","label":"Seizure","frequency":"Very rare (<4-1%)","criteria":null}]}}