{"orpha":300333,"name":"Nephrotic syndrome-epidermolysis bullosa-sensorineural deafness syndrome","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["EBS with nephropathy","Epidermolysis bullosa simplex with nephropathy","Nephrotic syndrome-hearing loss-epidermolysis bullosa syndrome"],"definition":"A rare, genetic, renal disease characterized by hereditary nephritis leading to nephrotic syndrome and end-stage renal failure associated with sensorineural hearing loss and pretibial skin blistering followed by atrophy. Other reported manifestations include bilateral lacrimal duct stenosis, dystrophic teeth and nails, bilateral cervical ribs, unilateral kidney, distal vaginal agenesis and anemia due to beta-thalassemia minor.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-300333/","orphanet_url":"https://www.orpha.net/en/disease/detail/300333","names":{"fr":{"name":"Syndrome d'épidermolyse bulleuse-syndrome néphrotique-surdité neurosensorielle","synonyms":["EBS avec néphropathie","Epidermolyse bulleuse simple avec néphropathie"],"definition":"Maladie rénale rare, d'origine génétique, caractérisée par une néphrite héréditaire conduisant à un syndrome néphrotique et à une insuffisance rénale terminale associée à une perte auditive neurosensorielle et à des cloques cutanées affectant les zones prétibiales suivies d'une atrophie. Parmi les autres manifestations rapportées figurent une sténose bilatérale du canal lacrymal, une dystrophie des dents et des ongles, des côtes cervicales bilatérales, une agénésie rénale unilatérale, une agénésie vaginale distale et une anémie due à la bêta-thalassémie mineure."},"de":{"name":"Nephrotisches Syndrom-Epidermolysis bullosa-sensorineurale Schwerhörigkeit-Syndrom","synonyms":["EBS mit Nephropathie","Epidermolysis bullosa simplex mit Nephropathie","Nephrotisches Syndrom-Hörverlust-Epidermolysis bullosa-Syndrom"],"definition":"Eine seltene Nierenerkrankung, die durch hereditäre Nephritis gekennzeichnet ist und zu nephrotischem Syndrom und Nierenversagen im Endstadium führt, verbunden mit sensorineuralem Hörverlust und Blasenbildung an der Haut der Unterschenkel, gefolgt von Atrophie. Zu den weiteren berichteten Symptomen gehören bilaterale Tränenkanalstenose, dystrophische Zähne und Nägel, bilaterale Halsrippen, einseitige Niere, distale Vaginalagenesie und Anämie aufgrund von Beta-Thalassämie minor."},"es":{"name":"Síndrome nefrótico-sordera neurosensorial-epidermólisis ampollosa pretibial","synonyms":["EBS con nefropatía","Epidermólisis ampollosa simple con nefropatía","Síndrome de epidermólisis ampollosa-hipoacusia-síndrome nefrótico"],"definition":"Es una enfermedad renal, genética y poco frecuente, caracterizada por nefritis hereditaria que conduce a un síndrome nefrótico e insuficiencia renal terminal asociado a hipoacusia neurosensorial y ampollas cutáneas pretibiales seguidas de atrofia. Otras manifestaciones descritas incluyen estenosis bilateral del conducto lagrimal, dientes y uñas distróficas, costillas cervicales bilaterales, riñón unilateral, agenesia vaginal distal y anemia debida a beta-talasemia menor."},"it":{"name":"Sindrome nefrosica, epidermolisi bollosa, sordità neurosensoriale","synonyms":["EBS con nefropatia","Epidermolisi bollosa semplice con nefropatia","Sindrome nefrosica, sordità, epidermolisi bollosa"],"definition":"La sindrome nefrosica con sordità ed epidermolisi bollosa pretibiale è una malattia rara genetica del rene, caratterizzata da nefrite ereditaria, con conseguente sindrome nefrosica ed insufficienza renale terminale, associata a sordità neurosensoriale e vesciche cutanee pretibiali, seguite da atrofia. Altri segni clinici sono la stenosi bilaterale dei dotti lacrimali, la distrofia dei denti e delle unghie, le costole cervicali bilaterali, l'agenesia di un rene, l'agenesia della porzione distale della vagina e l'anemia da beta talassemia minore."},"nl":{"name":"Nefrotisch syndroom - epidermolysis bullosa - sensorineurale doofheid-syndroom","synonyms":["EBS met nefropathie","Epidermolysis bullosa simplex met nefropathie","Nefrotisch syndroom - gehoorverlies - epidermolysis bullosa-syndroom"],"definition":"Een zeldzame, genetische aandoening van nier, gekenmerkt door erfelijke nefritis die leidt tot nefrotisch syndroom en terminaal nierfalen geassocieerd met sensorineuraal gehoorverlies en blaarvorming van pretibiale huid gevolgd door atrofie. Overige manifestaties die werden gerapporteerd, zijn onder meer bilaterale stenose van traankanalen, dystrofische tanden en nagels, bilaterale halsribben, unilaterale nier, agenesie van distale vagina, en anemie door beta-thalassemia minor."},"pt":{"name":"Síndrome nefrótico-epidermólise bolhosa-surdez neurossensorial","synonyms":["Epidermólise bolhosa simples com nefropatia"]},"pl":{"name":"Zespół niedosłuchu czuciowo-nerwowego, pęcherzowego oddzielania się naskórka i zespołu nerczycowego","synonyms":["Zespół zespołu nefrotycznego, utraty słuchu, przedpiszczelowego pęcherzowego oddzielania się naskórka"]},"cs":{"name":"Syndrom zahrnující nefrotický syndrom, hluchotu a pretibiální epidermolysis bullosa","synonyms":["Syndrom zahrnující nefrotický syndrom, ztrátu sluchu a pretibiální epidermolysis bullosa"]},"uk":{"name":"Нефротичний синдром-бульозний епідермоліз-сенсоневральнаї глухота","synonyms":["EBS з нефропатією","Простий бульозний епідермоліз з нефропатією","Нефротичний синдром - втрата слуху - бульозний епідермоліз"],"definition":"A rare, genetic, renal disease characterized by hereditary nephritis leading to nephrotic syndrome and end-stage renal failure associated with sensorineural hearing loss and pretibial skin blistering followed by atrophy. Other reported manifestations include bilateral lacrimal duct stenosis, dystrophic teeth and nails, bilateral cervical ribs, unilateral kidney, distal vaginal agenesis and anemia due to beta-thalassemia minor."},"zh":{"name":"肾病综合征-耳聋-胫前表皮大疱性松解症综合征","synonyms":["肾病综合征-听力损失-胫前表皮大疱性松解症综合征"],"definition":"肾病综合征-耳聋-大疱性表皮松解综合征是一种罕见的遗传性肾脏疾病，其特征是遗传性肾炎导致肾病综合征和终末期肾功能衰竭，伴感音神经性听力损失和胫前皮肤起疱并萎缩。其他报告的表现包括双侧泪道狭窄、牙齿和指甲营养不良、双侧颈肋、单侧肾、远端阴道发育不良和轻型β-地中海贫血引起的贫血。"},"tr":{"name":"Nefrotik sendrom-sağırlık-pretibial epidermolizis bülloza sendromu","synonyms":["Nefrotik sendrom-işitme kaybı-pretibial epidermolizis bülloza sendromu"]}},"xrefs":[{"source":"OMIM","code":"609057","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"N04.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"GB41","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0012190","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4751113","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93626,"name":"Rare renal disease"},"parents":[{"orpha":567562,"name":"Disorder with multisystemic involvement and glomerulopathy","classifications":[156,188,233]},{"orpha":595351,"name":"Epidermolysis bullosa simplex with extracutaneous involvement","classifications":[156,187]},{"orpha":90642,"name":"Rare syndromic genetic deafness","classifications":[147,156,200]}],"children":[],"genes":[{"symbol":"CD151","name":"CD151 molecule (Raph blood group)","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"15265795[PMID]","hgnc":"1630","ensembl":"ENSG00000177697","omim":"602243","loci":["11p15.5"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Adolescent"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":3.0,"area":"Worldwide","status":"Validated","source":"15265795[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_15265795[PMID]"}],"phenotypes":null}