{"orpha":79234,"name":"Crigler-Najjar syndrome type 1","type":"Clinical subtype","group":"Subtype of disorder","status":"active","flags":[],"synonyms":["Bilirubin uridinediphosphate glucuronosyltransferase deficiency type 1","Bilirubin-UGT deficiency type 1"],"definition":"A form of Crigler Najjar syndrome (CNS), a hereditary disorder of hepatic bilirubin conjugation, characterized by severe neonatal unconjugated hyperbilirubinemia due to a complete absence of hepatic UDP-glucuronosyltransferase 1A1. The disorder clinically manifests with neonatal, isolated, severe and permanent jaundice with a permanent risk of bilirubin encephalopathy.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-79234/","orphanet_url":"https://www.orpha.net/en/disease/detail/79234","names":{"fr":{"name":"Syndrome de Crigler-Najjar type 1","synonyms":["Déficit en bilirubine uridine-diphosphate glucuronosyltransférase type 1","Déficit en bilirubine-UGT type 1"],"definition":"Forme du syndrome de Crigler Najjar (SCN), trouble héréditaire du métabolisme et de l'excrétion de la bilirubine, caractérisé par une hyperbilirubinémie non conjuguée néonatale sévère due à une absence complète de l'UDP-glucuronosyltransférase 1A1 hépatique. La maladie se manifeste cliniquement par un ictère néonatal, isolé, sévère et permanent, avec un risque permanent d'encéphalopathie bilirubinique."},"de":{"name":"Crigler-Najjar-Syndrom Typ 1","synonyms":["Bilirubin UDP-Glucuronosyltransferase-Mangel Typ 1","Bilirubin-UGT-Defizienz Typ 1","Bilirubin-UGT-Mangel Typ 1","Hyperbilirubinämie, hereditäre unkonjugierte, Typ 1"],"definition":"Ein Subtyp des Crigler-Najjar-Syndroms (CNS), einer erblichen Störung der hepatischen Bilirubinkonjugation, die durch eine schwere unkonjugierte neonatale Hyperbilirubinämie aufgrund des vollständigen Fehlens der hepatischen UDP-Glucuronosyltransferase 1A1 gekennzeichnet ist. Klinisch äußert sich die Störung durch eine isolierte, schwere und dauerhafte Neugeborenengelbsucht mit dem ständigen Risiko einer Bilirubin-Enzephalopathie."},"es":{"name":"Síndrome de Crigler-Najjar tipo 1","synonyms":["Deficiencia de bilirrubina uridinadifosfato glucuronosiltransferasa tipo 1","Deficiencia de bilirrubina-UGT tipo 1"],"definition":"Es una forma del síndrome de Crigler Najjar (SCN), un trastorno hereditario poco frecuente del metabolismo de la bilirrubina, caracterizado por hiperbilirrubinemia no conjugada debido a la ausencia total de UDP-glucuronosiltransferasa 1A1 hepática. El trastorno se manifiesta clínicamente con ictericia neonatal aislada, grave y permanente con riesgo de desarrollar encefalopatía por bilirrubina."},"it":{"name":"Sindrome di Crigler-Najjar tipo 1","synonyms":["Deficit di UGT, tipo 1","Deficit di bilirubina uridina-difosfato glucuronosiltransferasi tipo 1","Deficit di bilirubina-UGT tipo 1","Iperbilirubinemia ereditaria non coniugata, tipo 1"],"definition":"Si tratta di una forma della sindrome di Crigler-Najjar (CSN), una malattia ereditaria della coniugazione epatica della bilirubina, caratterizzata da grave iperbilirubinemia non coniugata neonatale, secondaria all'assenza completa dell'UDP-glucuronosiltransferasi 1A1 epatica. Dal punto di vista clinico, la malattia si manifesta con ittero neonatale isolato, grave e permanente. I pazienti sono costantemente a rischio di sviluppare un'encefalopatia da bilirubina."},"nl":{"name":"Syndroom van Crigler-Najjar type 1","synonyms":["Bilirubine-UGT-deficiëntie type 1","Deficiëntie van bilirubine-uridinedifosfaat-glucuronosyltransferase type 1"],"definition":"Een vorm van syndroom van Crigler-Najjar (CNS), een erfelijke stoornis van conjugatie van bilirubine in lever, gekenmerkt door ernstige neonatale niet-geconjugeerde hyperbilirubinemie als gevolg van volledige afwezigheid van hepatisch UDP-glucuronosyltransferase 1A1. De aandoening manifesteert zich klinisch met neonatale, geïsoleerde, ernstige en permanente geelzucht met een permanent risico op bilirubine-encefalopathie."},"pt":{"name":"Síndrome Crigler-Najjar tipo 1","synonyms":["Deficiência de bilirrubina-UGT tipo 1"],"definition":"Forma da síndrome Crigler Najjar (SCN), uma doença hereditária da conjugação da bilirrubina hepática, caracterizada por hiperbilirrubinemia neonatal não conjugada grave devido à ausência completa de UDP-glucuronosiltransferase 1A1 hepática. A doença manifesta-se clinicamente com icterícia neonatal, isolada, grave e permanente com risco permanente de encefalopatia bilirrubínica."},"pl":{"name":"Zespół Criglera i Najjara typu 1","synonyms":["Dziedziczna niesprzężona hiperbilirubinemia typu 1","Niedobór bilirubiny-UGT typu 1","Niedobór UGT typu 1","Niedobór urydynodifosforan-glukonylotransferazy bilirubiny typu 1"]},"cs":{"name":"Criglerův-Najjarův syndrom I. typu","synonyms":["Deficit bilirubin-uridin-difosfát-glukuronosyl-transferázy, typ 1","Deficit bilirubin-UGT, typ 1","Hereditární nekonjugovaná hyperbilirubinémie, typ 1","Deficit UGT, typ 1","Crigler-Najjarův syndrom I. typu"]},"uk":{"name":"Синдром Криглера-Найяра, тип 1","synonyms":["Дефіцит уридиндифосфатглюкуронозилтрансферази білірубіну, тип 1","Дефіцит білірубіну-УГТ тип 1"],"definition":"A form of Crigler Najjar syndrome (CNS), a hereditary disorder of hepatic bilirubin conjugation, characterized by severe neonatal unconjugated hyperbilirubinemia due to a complete absence of hepatic UDP-glucuronosyltransferase 1A1. The disorder clinically manifests with neonatal, isolated, severe and permanent jaundice with a permanent risk of bilirubin encephalopathy."},"zh":{"name":"Crigler-Najjar综合征1型","synonyms":["胆红素尿苷二磷酸葡萄糖醛酸转移酶缺乏症1型"]},"tr":{"name":"Crigler-Najjar sendromu tip 1","synonyms":["UGT eksikliği tip 1","Bilirubin-UGT eksikliği tip 1","Kalıtsal konjuge olmayan hiperbilirubinemi tip 1","Bilirubin üridindifosfat glukuronosiltransferaz eksikliği tip 1"]}},"xrefs":[{"source":"OMIM","code":"218800","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"E80.5","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"5C58.00","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1098453659"},{"source":"MONDO","code":"0021020","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0010324","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"47","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10057034","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":57146,"name":"Rare hepatic disease"},"parents":[{"orpha":205,"name":"Crigler-Najjar syndrome","classifications":[150,156,183,233]}],"children":[],"genes":[{"symbol":"UGT1A1","name":"UDP glucuronosyltransferase family 1 member A1","gene_type":"Disorder-associated locus","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"9039987[PMID]_9497253[PMID]","hgnc":"12530","ensembl":"ENSG00000241635","omim":"191740","loci":["2q37.1"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Neonatal"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Worldwide","status":"Not yet validated","source":"ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":"9347003[PMID]_12983120[PMID]","terms":[{"hpo":"HP:0001392","label":"Abnormality of the liver","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001080","label":"Biliary tract abnormality","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0008947","label":"Floppy infant","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001343","label":"Kernicterus","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003265","label":"Neonatal hyperbilirubinemia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0006579","label":"Prolonged neonatal jaundice","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0008282","label":"Unconjugated hyperbilirubinemia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000750","label":"Delayed speech and language development","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000365","label":"Hearing impairment","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001249","label":"Intellectual disability","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002354","label":"Memory impairment","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012246","label":"Oculomotor nerve palsy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001250","label":"Seizure","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001337","label":"Tremor","frequency":"Occasional (29-5%)","criteria":null}]}}