{"orpha":261629,"name":"Alagille syndrome due to a NOTCH2 point mutation","type":"Etiological subtype","group":"Subtype of disorder","status":"active","flags":[],"synonyms":["Alagille-Watson syndrome due to a NOTCH2 point mutation","Arteriohepatic dysplasia due to a NOTCH2 point mutation","Syndromic bile duct paucity due to a NOTCH2 point mutation"],"definition":null,"note":"This disease is described under Alagille syndrome","url":"https://raremap.alftech.space/d/ORPHA-261629/","orphanet_url":"https://www.orpha.net/en/disease/detail/261629","names":{"fr":{"name":"Syndrome d'Alagille dû à une mutation ponctuelle de NOTCH2","synonyms":["Dysplasie artério-hépatique due à une mutation ponctuelle de NOTCH2","Paucité des voies biliaires syndromique due à une mutation ponctuelle de NOTCH2","Syndrome d'Alagille-Watsons dû à une mutation ponctuelle de NOTCH2"]},"de":{"name":"Alagille-Syndrom durch NOTCH2-Gen-Punktmutationen","synonyms":["Alagille-Watson-Syndrom durch NOTCH2-Gen-Punktmutationen","Dysplasie, arteriohepatische, durch NOTCH2-Gen-Punktmutationen","Gallenganghypoplasie, intrahepatische, durch NOTCH2-Gen-Punktmutationen"]},"es":{"name":"Síndrome de Alagille por una mutación puntual en el gen NOTCH2","synonyms":["Displasia arteriohepática por una mutación puntual en el gen NOTCH2","Síndrome de Alagille-Watson por una mutación puntual en el gen NOTCH2","Síndrome de escasez de conductos biliares por una mutación puntual en el gen NOTCH2"]},"it":{"name":"Sindrome di Alagille da mutazione puntiforme di NOTCH2","synonyms":["Displasia arterio-epatica da mutazione puntiforme di NOTCH2","Paucità sindromica delle vie biliari da mutazione puntiforme di NOTCH2","Sindrome di Alagille-Watson da mutazione puntiforme di NOTCH2"]},"nl":{"name":"Syndroom van Alagille als gevolg van een NOTCH2-puntmutatie","synonyms":["Arteriohepatische dysplasie als gevolg van een NOTCH2-puntmutatie","Galwegaandoening als gevolg van een NOTCH2-puntmutatie","Syndroom van Alagille-Watson als gevolg van een NOTCH2-puntmutatie"]},"pt":{"name":"Síndrome Alagille por uma mutação pontual no NOTCH2"},"pl":{"name":"Zespół Alagille'a z powodu mutacji punktowej NOTCH2","synonyms":["Dysplazja tętniczo-wątrobowa z powodu mutacji punktowej NOTCH2","Syndromiczna skąpość dróg żółciowych z powodu mutacji punktowej NOTCH2","Zespół Alagille'a i Watsona z powodu mutacji punktowej NOTCH2"]},"cs":{"name":"Alagilleův syndrom způsobený NOTCH2 bodovou mutací","synonyms":["Alagilleův-Watsonův syndrom způsobený NOTCH2 bodovou mutací","Arteriohepatická dysplázie způsobená NOTCH2 bodovou mutací","Syndromická nedostatečnost způsobená bodovou mutací NOTCH2","Alagille-Watsonův syndrom způsobený NOTCH2 bodovou mutací"]},"uk":{"name":"Синдром Алажіля, зумовлений точковою мутацією NOTCH2","synonyms":["Синдром Алажиля-Вотсона, зумовлений мутацією точки NOTCH2","Артеріопечінкова дисплазія внаслідок мутації точки NOTCH2","Синдром недостатності жовчних проток внаслідок мутації точки NOTCH2"]},"zh":{"name":"NOTCH2基因点突变所致Alagille综合征","synonyms":["NOTCH2基因点突变所致综合症性胆管缺乏"]},"tr":{"name":"NOTCH2 nokta mutasyonuna bağlı Alagille sendromu","synonyms":["NOTCH2 nokta mutasyonuna bağlı Alagille-Watson sendromu","NOTCH2 nokta mutasyonuna bağlı arteriyohepatik displazi","NOTCH2 nokta mutasyonuna bağlı sendromik safra kanalı yetersizliği"]}},"xrefs":[{"source":"OMIM","code":"610205","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q44.7","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LB20.0Y","qualifier":"NTBT","icd_relation":"attributed","validated":true,"icd11_uri":"null"},{"source":"MONDO","code":"0012439","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1857761","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":52,"name":"Alagille syndrome","classifications":[147,148,156,182,183,188,189,202,233]}],"children":[],"genes":[{"symbol":"NOTCH2","name":"notch receptor 2","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"21934706[PMID]","hgnc":"7882","ensembl":"ENSG00000134250","omim":"600275","loci":["1p12"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":[],"prevalence":[],"phenotypes":null}