{"orpha":79302,"name":"Congenital bile acid synthesis defect type 3","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["BASD3","Oxysterol 7-alpha-hydroxylase deficiency"],"definition":"Congenital bile acid synthesis defect type 3 (BAS defect type 3) is a severe anomaly of bile acid synthesis characterized by severe neonatal cholestatic liver disease.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-79302/","orphanet_url":"https://www.orpha.net/en/disease/detail/79302","names":{"fr":{"name":"Déficit congénital de synthèse des acides biliaires type 3","synonyms":["DSAB3","Déficit en oxystérol 7-alpha-hydroxylase"],"definition":"Le déficit congénital de synthèse des acides biliaires (SAB) type 3 est une anomalie sévère de la SAB caractérisée par une maladie hépatique cholestastique néonatale sévère."},"de":{"name":"Gallensäuresynthesedefekt, kongenitaler, Typ 3","synonyms":["BASD3","Oxysterol 7-alpha-Hydroxylase-Mangel"],"definition":"Der Typ 3 der Kongenitalen Defekte der Gallensäure-Synthese (BAS-Defekt Typ 3), eine der Anomalien der Gallensäuren-Synthese, ist gekennzeichnet durch sehr schweren Verlauf mit cholestatischer Hepatopathie."},"es":{"name":"Defecto congénito de la síntesis de ácidos biliares tipo 3","synonyms":["BASD3","Deficiencia de oxiesterol 7-alfa-hidroxilasa"],"definition":"El defecto congénito de la síntesis ácidos biliares de tipo 3 (Defecto de la SAB, tipo 3) es una anomalía grave de la síntesis de ácidos biliares (ver este término), caracterizada por una grave enfermedad hepática colestásica neonatal."},"it":{"name":"Difetto congenito della sintesi degli acidi biliari, tipo 3"},"nl":{"name":"Congenitaal defect van galzuursynthese type 3","synonyms":["BASD3","Deficiëntie van oxysterol 7-alfa-hydroxylase"],"definition":"Congenitaal defect van galzuursynthese type 3 (BAS defect type 3) is een ernstige anomalie van synthese van galzuur, gekenmerkt door ernstige neonatale cholestatische leverziekte."},"pt":{"name":"Defeito congénito da síntese de ácidos biliares tipo 3","synonyms":["BASD3","Deficiência de oxiesterol 7-alfa-hidroxilase"],"definition":"A deficiência congénita da síntese dos ácidos biliares tipo 3 (deficiência da BAS tipo 3) é uma anomalia grave da síntese dos ácidos biliares (ver este termo), caracterizada por doença hepática colestática neonatal grave."},"pl":{"name":"Wrodzony defekt syntezy kwasów żółciowych typu 3","synonyms":["BASD3","Niedobór 7-alfa-hydroksylazy oksysterolowej"]},"cs":{"name":"Vrozený defekt syntézy žlučových kyselin, typ 3","synonyms":["Deficit oxysterol-7-alfa-hydroxylázy"]},"uk":{"name":"Вроджений дефект синтезу жовчних кислот, тип 3","synonyms":["BASD3","Дефіцит оксистерол-7-альфа-гідроксилази"],"definition":"Congenital bile acid synthesis defect type 3 (BAS defect type 3) is a severe anomaly of bile acid synthesis (see this term) characterized by severe neonatal cholestatic liver disease."},"zh":{"name":"先天性胆汁酸合成缺陷2型","synonyms":["氧固醇7-α-羟化酶缺乏症"]},"tr":{"name":"Doğumsal safra asidi sentez bozukluğu tip 3","synonyms":["BASD3","Oksisterol 7-alfa-hidroksilaz eksikliği"]}},"xrefs":[{"source":"OMIM","code":"613812","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"K76.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"5C52.11","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"2022512995"},{"source":"MONDO","code":"0013439","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C566340","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4304715","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":57146,"name":"Rare hepatic disease"},"parents":[{"orpha":485631,"name":"Congenital bile acid synthesis defect","classifications":[150,156,183,233]}],"children":[],"genes":[{"symbol":"CYP7B1","name":"cytochrome P450 family 7 subfamily B member 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"9802883[PMID]","hgnc":"2652","ensembl":"ENSG00000172817","omim":"603711","loci":["8q12.3"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":2.0,"area":"Worldwide","status":"Validated","source":"9802883[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_9802883[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2021-11-26","source":"17682975[PMID]_18367963[PMID]","terms":[{"hpo":"HP:0100508","label":"Abnormality of vitamin metabolism","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001408","label":"Bile duct proliferation","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001396","label":"Cholestasis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001394","label":"Cirrhosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0031964","label":"Elevated circulating alanine aminotransferase concentration","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003155","label":"Elevated circulating alkaline phosphatase concentration","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0031956","label":"Elevated circulating aspartate aminotransferase concentration","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002630","label":"Fat malabsorption","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001399","label":"Hepatic failure","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001433","label":"Hepatosplenomegaly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002904","label":"Hyperbilirubinemia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000952","label":"Jaundice","frequency":"Frequent (79-30%)","criteria":null}]}}