{"orpha":205,"name":"Crigler-Najjar syndrome","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Bilirubin uridinediphosphate glucuronosyltransferase deficiency","Bilirubin-UGT deficiency"],"definition":"A rare hereditary disorder of bilirubin metabolism characterized by unconjugated hyperbilirubinemia due to a either a complete (type 1) or partial and inducible (type 2) hepatic deficit of UDP-glucuronosyltransferase 1A1 activity. The disorder manifests with neonatal jaundice with a risk of developing bilirubin encephalopathy.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-205/","orphanet_url":"https://www.orpha.net/en/disease/detail/205","names":{"fr":{"name":"Syndrome de Crigler-Najjar","synonyms":["Déficit en bilirubine uridine-diphosphate glucuronosyltransférase","Déficit en bilirubine-UGT"],"definition":"Trouble héréditaire rare du métabolisme de la bilirubine, caractérisé par une hyper-bilirubinémie non conjuguée due à un déficit hépatique complet (de type 1) ou partiel et inductible (de type 2) de l'activité de l'UDP-glucuronosyltransférase 1A1. La maladie se manifeste par un ictère néonatal avec un risque de développer une encéphalopathie bilirubinique."},"de":{"name":"Crigler-Najjar-Syndrom","synonyms":["Bilirubin-UGT-Defizienz","Bilirubin-UGT-Mangel","Bilirubin-Uridindiphosphat-Glucuronosyltransferase-Mangel","Hyperbilirubinämie, hereditäre unkonjugierte"],"definition":"Eine seltene hereditäre Störung des Bilirubinstoffwechsels, die durch eine Hyperbilirubinämie ohne Konjugate aufgrund eines vollständigen (Typ 1) oder teilweisen und induzierbaren (Typ 2) hepatischen Verlusts der UDP-Glucuronosyltransferase 1A1-Aktivität gekennzeichnet ist. Die Störung äußert sich als Neugeborenenikterus mit dem Risiko der Entwicklung einer Bilirubinenzephalopathie."},"es":{"name":"Síndrome de Crigler-Najjar","synonyms":["Deficiencia de bilirrubina uridinadifosfato glucuronosiltransferasa","Deficiencia de bilirrubina-UGT"],"definition":"Es un trastorno hereditario poco frecuente del metabolismo de la bilirrubina caracterizado por hiperbilirrubinemia no conjugada debida a un déficit hepático completo (tipo 1) o parcial e inducible (tipo 2) de la actividad UDP-glucuronosiltransferasa 1A1. El trastorno se manifiesta como una ictericia neonatal con riesgo de desarrollar encefalopatía por bilirrubina."},"it":{"name":"Sindrome di Crigler-Najjar","synonyms":["Deficit di bilirubina uridina-difosfato glucuronosiltransferasi","Deficit di bilirubina-UGT"],"definition":"La sindrome di Crigler-Najjar (CNS) è una malattia ereditaria rara del metabolismo della bilirubina, caratterizzata da iperbilirubinemia non coniugata secondaria ad un deficit epatico completo (tipo 1) o parziale e inducibile (tipo 2) dell'attività dell'UDP-glucuronosiltransferasi 1A1. La malattia si manifesta con ittero neonatale e predisposizione all'encefalopatia da bilirubina."},"nl":{"name":"Syndroom van Crigler-Najjar","synonyms":["Bilirubine-UGT-deficiëntie","Deficiëntie van bilirubine-uridinedifosfaat-glucuronosyltransferase"],"definition":"Een zeldzame erfelijke stoornis van bilirubinemetabolisme, gekenmerkt door niet-geconjugeerde hyperbilirubinemie als gevolg van volledige deficiëntie (type 1) of verminderde en induceerbare activiteit (type 2) van UDP-glucuronosyltransferase 1A1 in lever. De aandoening manifesteert zich met neonatale geelzucht, met risico op ontwikkeling van bilirubine-encefalopathie."},"pt":{"name":"Síndrome Crigler-Najjar","synonyms":["Deficiência de bilirrubina uridinadifosfato glucuronosiltransferase","Deficiência de bilirrubina-UGT"],"definition":"Doença hereditária rara do metabolismo da bilirrubina caracterizada por hiperbilirrubinemia não conjugada devido a um défice hepático completo (tipo 1) ou parcial e induzível (tipo 2) da atividade da UDP-glucuronosiltransferase 1A1. A doença manifesta-se com icterícia neonatal com risco de desenvolver encefalopatia por bilirrubina."},"pl":{"name":"Zespół Criglera i Najjara","synonyms":["Dziedziczna nieskoniugowana hiperbilirubinemia","Niedobór bilirubiny-UGT","Niedobór UGT","Niedobór urydynodifosforanu glukuronylotransferazy bilirubiny"]},"cs":{"name":"Criglerův-Najjarův syndrom","synonyms":["Deficit bilirubin-UDP transferasy","Deficit bilirubin-UGT","Deficit UGT","Kongenitální hyperbilirubinémie","Kongenitální nonhemolytická žloutenka","Familiární nekonjugovaná hyperbilirubinémie","Dědičná nekonjugovaná hyperbilirubinémie","Crigler-Najjarův syndrom"]},"uk":{"name":"Синдром Криглера-Наджара","synonyms":["Дефіцит білірубін-уридиндифосфатглюкуронозилтрансферази","Дефіцит білірубін-УГТ"],"definition":"A rare hereditary disorder of bilirubin metabolism characterized by unconjugated hyperbilirubinemia due to a either a complete (type 1) or partial and inducible (type 2) hepatic deficit of UDP-glucuronosyltransferase 1A1 activity. The disorder manifests with neonatal jaundice with a risk of developing bilirubin encephalopathy."},"zh":{"name":"Crigler-Najjar综合征","synonyms":["胆红素尿苷二磷酸葡糖醛酸转移酶缺乏症"]},"tr":{"name":"Crigler-Najjar sendromu","synonyms":["UGT eksikliği","Bilirubin-UGT eksikliği","Kalıtsal konjuge olmayan hiperbilirubinemi","Bilirubin üridindifosfat glukuronosiltransferaz eksikliği"]}},"xrefs":[{"source":"OMIM","code":"218800","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"606785","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"E80.5","qualifier":"E","icd_relation":"specific","validated":true},{"source":"ICD-11","code":"5C58.00","qualifier":"E","icd_relation":"specific","validated":true,"icd11_uri":"291439191"},{"source":"MONDO","code":"0009044","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"D003414","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5551003","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10011386","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":57146,"name":"Rare hepatic disease"},"parents":[{"orpha":309816,"name":"Disorder of bilirubin metabolism and excretion","classifications":[150,156]},{"orpha":506210,"name":"Rare disorder potentially indicated for liver transplant","classifications":[233]},{"orpha":101940,"name":"Rare metabolic liver disease","classifications":[156,183]}],"children":[{"orpha":79234,"name":"Crigler-Najjar syndrome type 1","type":"Clinical subtype"},{"orpha":79235,"name":"Crigler-Najjar syndrome type 2","type":"Clinical subtype"}],"genes":[],"genes_via_subtypes":[{"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"],"via":{"orpha":79234,"name":"Crigler-Najjar syndrome type 1"}},{"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":"16456422[PMID]_17098698[PMID]","hgnc":"12530","ensembl":"ENSG00000241635","omim":"191740","loci":["2q37.1"],"via":{"orpha":79235,"name":"Crigler-Najjar syndrome type 2"}}],"inheritance":["Autosomal recessive"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.1,"area":"Europe","status":"Validated","source":"[EXPERT]"},{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 100 000","value":1.0,"area":"Europe","status":"Validated","source":"European Medicines Agency 2014[OTHER]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2024-04-19","source":"32965842[PMID]","terms":[{"hpo":"HP:0000952","label":"Jaundice","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003265","label":"Neonatal hyperbilirubinemia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0008282","label":"Unconjugated hyperbilirubinemia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001252","label":"Hypotonia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002033","label":"Poor suck","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0006958","label":"Abnormal auditory evoked potentials","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100543","label":"Cognitive impairment","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001259","label":"Coma","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002329","label":"Drowsiness","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0006297","label":"Enamel hypoplasia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000365","label":"Hearing impairment","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001433","label":"Hepatosplenomegaly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0025430","label":"High-pitched cry","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002383","label":"Infectious encephalitis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001343","label":"Kernicterus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001254","label":"Lethargy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002354","label":"Memory impairment","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000597","label":"Ophthalmoparesis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002179","label":"Opisthotonus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000989","label":"Pruritus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001250","label":"Seizure","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002321","label":"Vertigo","frequency":"Occasional (29-5%)","criteria":null}]}}