{"orpha":79168,"name":"Disorder of bile acid synthesis","type":"Category","group":"Group of disorders","status":"active","flags":[],"synonyms":[],"definition":"A group of sterol metabolism disorders due to enzyme deficiencies of bile acid synthesis (BAS) in infants, children and adults, with variable manifestations that include cholestasis, neurological disease, and fat malabsorption. Nine inborn errors have been described, 7 of which lead to liver cholestasis.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-79168/","orphanet_url":"https://www.orpha.net/en/disease/detail/79168","names":{"fr":{"name":"Anomalie de la synthèse des acides biliaires","definition":"Les anomalies de la synthèse des acides biliaires (SAB) sont un groupe d'anomalies du métabolisme des stérols dus à divers déficits enzymatiques. Elles s'expriment chez le nourrisson, l'enfant ou l'adulte par une symptomatologie variable avec, notamment, cholestase, troubles neurologiques et malabsorption des graisses. Neuf déficits sont décrits, dont 7 entraînent une cholestase hépatique."},"de":{"name":"Gallensäuresynthesedefekt","definition":"Zur Gruppe der Stoffwechselstörungen der Sterole gehörren die Enzymdefekte der Gallensäuren-Synthese (BAS). Zu den verschiedenen Symptomen bei Säuglingen, Kindern und Erwachsenen gehören Cholestase, neurologische Störungen und Fett-Malabsorption. Neun Enzymdefekte wurden beschrieben, 7 von ihnen führen zu hepatischer Cholestase."},"es":{"name":"Anomalía en la síntesis de ácidos biliares","definition":"Es un grupo de trastornos del metabolismo del esterol debidos a deficiencias enzimáticas de la síntesis de ácidos biliares (SAB) en lactantes, niños y adultos, con manifestaciones variables que incluyen colestasis, enfermedades neurológicas y malabsorción de grasas. Hasta la fecha, se han descrito nueve errores congénitos, siete de los cuales conducen a la colestasis hepática."},"it":{"name":"Malattia della sintesi degli acidi biliari"},"nl":{"name":"Aandoening van galzuursynthese","definition":"Een groep van stoornissen van sterolmetabolisme door enzymdeficiënties van galzuursynthese bij zuigelingen, kinderen en volwassenen, met variabele manifestaties waaronder cholestase, neurologische ziekte, en malabsorptie van vet. Er werden negen aangeboren defecten beschreven, waarvan er zeven leiden tot cholestase van lever."},"pt":{"name":"doença da síntese de ácidos biliares","definition":"As anomalias da síntese de ácidos biliares são um grupo de patologias do metabolismo do esterol causadas por deficiências enzimáticas da síntese de ácidos biliares (BAS) em lactentes, crianças e adultos, com manifestações variáveis que incluem colestase, doença neurológica, e má absorção da gordura."},"pl":{"name":"Zaburzenie syntezy kwasóe żółciowych"},"cs":{"name":"Poruchy syntézy žlučových kyselin"},"uk":{"name":"Порушення синтезу жовчних кислот","definition":"A group of sterol metabolism disorders due to enzyme deficiencies of bile acid synthesis (BAS) in infants, children and adults, with variable manifestations that include cholestasis, neurological disease, and fat malabsorption. Nine inborn errors have been described, 7 of which lead to liver cholestasis."},"zh":{"name":"胆汁酸合成异常"},"tr":{"name":"Safra asidi sentezi bozukluğu"}},"xrefs":[{"source":"MONDO","code":"0019218","qualifier":"E","icd_relation":null,"validated":true},{"source":"MONDO","code":"19218","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0400973","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10088265","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":68367,"name":"Rare inborn error of metabolism"},"parents":[{"orpha":79226,"name":"Sterol metabolism disorder","classifications":[150,156]}],"children":[{"orpha":163631,"name":"Bile acid synthesis defect with cholestasis and malabsorption","type":"Category"},{"orpha":209902,"name":"Hypercholesterolemia due to cholesterol 7alpha-hydroxylase deficiency","type":"Disease"},{"orpha":84065,"name":"Idiopathic malabsorption due to bile acid synthesis defects","type":"Disease"}],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":["All ages"],"prevalence":[{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.6,"area":"Europe","status":"Validated","source":"European Medicines Agency[OTHER]"}],"phenotypes":null}