{"orpha":276066,"name":"Bile acid CoA ligase deficiency and defective amidation","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"Bile acid CoA ligase deficiency and defective amidation is an anomaly of bile acid synthesis characterized by fat malabsorption, neonatal cholestasis and growth failure.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-276066/","orphanet_url":"https://www.orpha.net/en/disease/detail/276066","names":{"fr":{"name":"Insuffisance en acides biliaires-CoA ligase et défaut d'amidation","definition":"L'insuffisance en acides biliaires-CoA ligase et défaut d'amidation est une anomalie de la synthèse des acides biliaires caractérisée par une malabsorption des graisses, une cholestase néonatale et un retard de croissance staturo-pondérale."},"de":{"name":"Gallensäuren-CoA-Ligase-Mangel - Amidierungs-Defekt"},"es":{"name":"Deficiencia de ácido biliar CoA ligasa y amidación defectuosa","definition":"Es una anomalía de la síntesis de ácidos biliares caracterizada por malabsorción de grasas, colestasis neonatal y retraso del crecimiento."},"it":{"name":"Deficit di CoA ligasi degli acidi biliari e difetto dell'amidazione"},"nl":{"name":"Deficiëntie van galzuur-CoA-ligase en defect van amidatie","definition":"Een anomalie van synthese van galzuur, gekenmerkt door malabsorptie van vet, neonatale cholestase, en groeifalen."},"pt":{"name":"Deficiência de CoA ligase biliar e defeito da síntese de amidas"},"pl":{"name":"Niedobór i wadliwa amidacja ligazy kwas tłuszczowy:CoA"},"cs":{"name":"Deficit cholát-CoA ligázy a porucha amidace","synonyms":["Porucha amidace žlučových kyselin"]},"uk":{"name":"Дефіцит КоА-лігази жовчних кислот і дефектне амідування","definition":"Bile acid CoA ligase deficiency and defective amidation is an anomaly of bile acid synthesis (see this term) characterized by fat malabsorption, neonatal cholestasis and growth failure."},"zh":{"name":"胆汁酸辅酶A连接酶缺乏和酰胺化缺陷","definition":"胆汁酸辅酶A连接酶缺乏和酰胺化缺陷会导致胆汁酸合成的异常(见该词条)，其特征是脂肪吸收不良、新生儿胆汁淤积和生长障碍。"},"tr":{"name":"Safra asidi CoA ligaz eksikliği ve defektif amidasyon"}},"xrefs":[{"source":"ICD-10","code":"K76.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"5C52.11","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0017165","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4274079","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":57146,"name":"Rare hepatic disease"},"parents":[{"orpha":163631,"name":"Bile acid synthesis defect with cholestasis and malabsorption","classifications":[150,156,183,233]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["Unknown"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Worldwide","status":"Not yet validated","source":"ORPHANET"}],"phenotypes":null}