{"orpha":521432,"name":"Congenital cataract-severe neonatal hepatopathy-global developmental delay syndrome","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"A rare genetic disease characterized by congenital cataract, neonatal hepatic failure and cholestatic jaundice, and global developmental delay. Neonatal death due to progressive liver failure has been reported.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-521432/","orphanet_url":"https://www.orpha.net/en/disease/detail/521432","names":{"fr":{"name":"Syndrome de cataracte congénitale-hépatopathie néonatale sévère-retard global de développement","definition":"Maladie génétique rare caractérisée par une cataracte congénitale, une insuffisance hépatique néonatale, un ictère cholestatique, et un retard global de développement. Chez les nouveau-nés, des cas d'insuffisance hépatique progressive engageant le pronostic vital ont été rapportés."},"de":{"name":"Kongenitale Katarakt-schwere neonatale Hepatopathie-allgemeine Entwicklungsverzögerung-Syndrom","definition":"Eine sehr seltene genetische Erkrankung, die durch kongenitale Katarakt, neonatales Leberversagen und cholestatische Gelbsucht sowie eine globale Entwicklungsverzögerung gekennzeichnet ist."},"es":{"name":"Síndrome congénito de cataratas-hepatopatía neonatal grave-retraso global del desarrollo","definition":"Es una enfermedad genética poco frecuente caracterizada por cataratas congénitas, insuficiencia hepática neonatal e ictericia colestásica y retraso global del desarrollo psicomotor. Se ha descrito la muerte neonatal debido a insuficiencia hepática progresiva."},"it":{"name":"Sindrome cataratta congenita-grave epatopatia neonatale-ritardo dello sviluppo globale","definition":"Si tratta di una malattia genetica rara, caratterizzata da cataratta congenita, insufficienza epatica neonatale, ittero colestatico e ritardo dello sviluppo globale. Sono stati descritti casi di morte neonatale causati dall'insufficienza epatica progressiva."},"nl":{"name":"Congenitaal cataract - ernstige neonatale hepatopathie - algehele ontwikkelingsachterstand-syndroom","definition":"Een zeldzame, genetische aandoening, gekarakteriseerd door congenitaal cataract, neonataal leverfalen en cholestatische geelzucht, en algehele ontwikkelingsachterstand. Neonatale sterfte als gevolg van progressief leverfalen werd reeds gerapporteerd."},"pt":{"name":"Síndrome de catarata-hepatopatia neonatal grave-perturbação global do desenvolvimento congénita"},"pl":{"name":"Zespół wrodzonej zaćmy- ciężkiej hepatopatii noworodków-uogólnionego opóźnienia w rozwoju"},"cs":{"name":"Syndrom zahrnující vrozenou kataraktu, těžkou novorozeneckou hepatopatii a celkové opoždění vývoje"},"uk":{"name":"Синдром вродженої катаракти-тяжкої неонатальної гепатопатії-глобальної затримки розвитку","definition":"A rare genetic disease characterized by congenital cataract, neonatal hepatic failure and cholestatic jaundice, and global developmental delay. Neonatal death due to progressive liver failure has been reported."},"zh":{"name":"先天性白内障-严重新生儿肝病-全身发育迟缓综合征","definition":"一种罕见的遗传性疾病，特点是先天性白内障、新生儿肝功能衰竭和胆汁性黄疸以及全面发育迟缓。据报道，新生儿会因进行性肝衰竭而死亡。"},"tr":{"name":"Doğumsal katarakt-ağır yenidoğan hepatopati-yaygın gelişme geriliği sendromu"}},"xrefs":[{"source":"ICD-10","code":"Q87.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"DB99.Y","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"33853","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5681444","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":57146,"name":"Rare hepatic disease"},"parents":[{"orpha":156607,"name":"Genetic biliary tract disease","classifications":[156]},{"orpha":101941,"name":"Rare biliary tract disease","classifications":[183]},{"orpha":98641,"name":"Syndromic cataract","classifications":[189]},{"orpha":522548,"name":"Syndromic genetic cataract","classifications":[156]}],"children":[],"genes":[{"symbol":"CYP51A1","name":"cytochrome P450 family 51 subfamily A member 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"27878435[PMID]","hgnc":"2649","ensembl":"ENSG00000001630","omim":"601637","loci":["7q21.2"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Neonatal"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_27878435[PMID]"},{"type":"Cases/families","qualification":"Case(s)","class":null,"value":2.0,"area":"Worldwide","status":"Validated","source":"27878435[PMID]"}],"phenotypes":null}