{"orpha":306504,"name":"Interstitial lung disease-nephrotic syndrome-epidermolysis bullosa syndrome","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["ILNEB syndrome","JEB with interstitial lung disease and nephrotic syndrome","Junctional epidermolysis bullosa with interstitial lung disease and nephrotic syndrome"],"definition":"A life-threatening multiorgan disorder which develops in the first months of life, presenting with respiratory distress and proteinuria in the nephrotic range, and leading to severe interstitial lung disease and renal failure. Some patients additionally display cutaneous alterations, ranging from blistering and skin erosions to an epidermolysis bullosa-like phenotype, with toe nail dystrophy and sparse hair.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-306504/","orphanet_url":"https://www.orpha.net/en/disease/detail/306504","names":{"fr":{"name":"Syndrome de pneumopathie interstitielle-syndrome néphrotique-épidermolyse bulleuse","synonyms":["EBJ avec pneumopathie interstitielle et syndrome néphrotique","Epidermolyse bulleuse jonctionnelle avec pneumopathie interstitielle et syndrome néphrotique"],"definition":"Maladie multiviscérale potentiellement létale qui se développe au cours des premiers mois de vie, se manifestant par une détresse respiratoire et une protéinurie de type néphrotique, conduisant à une maladie pulmonaire interstitielle sévère et à une insuffisance rénale. Certains patients présentent en outre des lésions cutanées, allant de cloques et d'érosions cutanées à un phénotype de type épidermolyse bulleuse, accompagnée d'une dystrophie des ongles des orteils et de cheveux clairsemés."},"de":{"name":"Interstitielle Lungenkrankheit-Nephrotisches Syndrom-Epidermolysis bullosa-Syndrom","synonyms":["ILNEB-Syndrom","JEB mit interstitieller Lungenkrankheit und nephrotischem Syndrom","JEB mit respiratorischer und renaler Beteiligung","Junktionale Epidermolysis bullosa mit interstitieller Lungenkrankheit und nephrotischem Syndrom"],"definition":"Eine lebensbedrohliche Multiorganerkrankung, die sich in den ersten Lebensmonaten entwickelt, sich mit Atemnot und Proteinurie im nephrotischen Bereich manifestiert und zu schwerer interstitieller Lungenerkrankung und Nierenversagen führt. Bei einigen Patienten treten zusätzlich Hautveränderungen auf, die von Blasenbildung und Hauterosionen bis hin zu einem Epidermolysis bullosa-ähnlichen Phänotyp mit Zehennageldystrophie und schütterem Haar reichen."},"es":{"name":"Síndrome de enfermedad pulmonar intersticial-síndrome nefrótico-epidermolisis ampollosa","synonyms":["Epidermólisis ampollosa juntural con enfermedad pulmonar intersticial y síndrome nefrótico","JEB con enfermedad pulmonar intersticial y síndrome nefrótico","Síndrome ILNEB","Síndrome de enfermedad pulmonar intersticial-síndrome nefrótico-epidermolisis bullosa"],"definition":"Es un trastorno multiorgánico potencialmente letal que se desarrolla en los primeros meses de vida. Se presenta con dificultad respiratoria y proteinuria en rango nefrótico, y conduce a enfermedad pulmonar intersticial grave y fallo renal. Adicionalmente, algunos pacientes presentan alteraciones cutáneas, que varían desde ampollas y erosiones cutáneas a un fenotipo tipo epidermólisis bullosa, con distrofia ungueal en los dedos de los pies y cabello escaso."},"it":{"name":"Sindrome nefrosica, pneumopatia interstiziale, epidermolisi bollosa","synonyms":["Sindrome ILNEB","Epidermolisi bollosa giunzionale con pneumopatia interstiziale e sindrome nefrosica","JEB con pneumopatia interstiziale e sindrome nefrosica"],"definition":"La sindrome nefrosica congenita con pneumopatia interstiziale e epidermolisi bollosa è una malattia multiorgano potenzialmente letale che esordisce nei primi mesi di vita con distress respiratorio e proteinuria di tipo nefrosico, che esita in una pneumopatia interstiziale grave e nell'insufficienza renale. Alcuni pazienti presentano anche alterazioni cutanee, comprese vesciche ed erosioni della cute, fino al quadro caratteristico dell'epidermolisi bollosa, con distrofia delle unghie dei piedi e capelli radi."},"nl":{"name":"Interstitiële longziekte - nefrotisch syndroom - epidermolysis bullosa-syndroom","synonyms":["ILNEB-syndroom","JEB met interstitiële longziekte en nefrotisch syndroom","Junctionele epidermolysis bullosa met interstitiële longziekte en nefrotisch syndroom"],"definition":"Een levensbedreigende aandoening van meerdere organen die zich ontwikkelt in de eerste levensmaanden, zich presenteert met ademnood en proteïnurie in nefrotisch bereik, en leidt tot ernstige interstitiële longziekte en nierfalen. Sommige patiënten vertonen daarenboven veranderingen van huid, gaande van blaarvorming en huiderosies tot epidermolysis bullosa-achtig fenotype met dystrofie van teennagels en schaars haar."},"pt":{"name":"Síndrome nefrótico-doença pulmonar intersticial-epidermólise bolhosa","synonyms":["Síndrome ILNEB"]},"pl":{"name":"Zespół pęcherzowego oddzielania się naskórka, śródmiąższowej choroby płuc i zespołu nerczycowego","synonyms":["ILNEB syndrome","JEB with interstitial lung disease and nephrotic syndrome","Junctional epidermolysis bullosa with interstitial lung disease and nephrotic syndrome"]},"cs":{"name":"Vrozený nefrotický syndrom s intersticiální plicní fibrózou a epidermolysis bullosa","synonyms":["Vrozený ILNEB syndrom","Vrozený NEP syndrom","Syndrom zahrnující vrozenou intersticiální plicní fibrózu, nefrotický syndrom a epidermolysis bullosa","Syndrom zahrnující vrozený nefrotický syndrom, epidermolysis bullosa a plicní fibrózu"]},"uk":{"name":"Синдром інтерстиціального захворювання легень-нефротичного синдрому-бульозного епідермолізу","synonyms":["Синдром ILNEB","JEB з інтерстиціальним захворюванням легень та нефротичним синдромом","Бульозний епідермоліз з інтерстиціальним захворюванням легень та нефротичним синдромом"],"definition":"A life-threatening multiorgan disorder which develops in the first months of life, presenting with respiratory distress and proteinuria in the nephrotic range, and leading to severe interstitial lung disease and renal failure. Some patients additionally display cutaneous alterations, ranging from blistering and skin erosions to an epidermolysis bullosa-like phenotype, with toe nail dystrophy and sparse hair."},"zh":{"name":"先天性间质性肺病肾病综合征并发大疱性表皮松解症","synonyms":["交界性大疱性表皮松解症征累及呼吸道和肾脏"],"definition":"先天性肾病综合征-间质性肺病-大疱性表皮松解综合征是一种在生后几个月发展、危及生命的多器官疾病，肾病表现为呼吸窘迫和蛋白尿，导致重度间质性肺病和肾功能衰竭。部分患者可有皮肤改变，从起疱和皮肤糜烂到大疱性表皮松解症，伴趾甲营养不良和头发稀疏。"},"tr":{"name":"Solunum ve böbrek tutulumu ile seyreden kavşak epidermolizis bülloza","synonyms":["Doğumsal nefrotik sendrom-epidermolizis bülloza-pulmoner hastalık sendromu","Doğumsal interstisyel akciğer hastalığı-nefrotik sendrom-epidermolizis bülloza sendromu","Doğumsal nefrotik sendrom-interstisyel akciğer hastalığı-epidermolizis bülloza sendromu","JEB-RR","Doğumsal NEP sendromu","Doğumsal ILNEB sendromu","Solunum ve böbrek tutulumu ile seyreden JEB"]}},"xrefs":[{"source":"OMIM","code":"614748","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"J84.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0013881","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4518785","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":567562,"name":"Disorder with multisystemic involvement and glomerulopathy","classifications":[156,188,233]},{"orpha":264992,"name":"Genetic interstitial lung disease","classifications":[156]},{"orpha":305,"name":"Junctional epidermolysis bullosa","classifications":[147,156,187]},{"orpha":264670,"name":"Primary interstitial lung disease specific to childhood due to alveolar structure disorder","classifications":[184,233]}],"children":[],"genes":[{"symbol":"ITGA3","name":"integrin subunit alpha 3","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"22512183[PMID]","hgnc":"6139","ensembl":"ENSG00000005884","omim":"605025","loci":["17q21.33"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":3.0,"area":"Worldwide","status":"Validated","source":"22512483[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_22512483[PMID]"}],"phenotypes":null}