{"orpha":79303,"name":"Congenital bile acid synthesis defect type 2","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["BASD2","Cholestasis with delta(4)-3-oxosteroid 5-beta-reductase deficiency"],"definition":"Congenital bile acid synthesis defect type 2 (BAS defect type 2) is an anomaly of bile acid synthesis characterized by severe and rapidly progressive cholestatic liver disease, and malabsorption of fat and fat-soluble vitamins.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-79303/","orphanet_url":"https://www.orpha.net/en/disease/detail/79303","names":{"fr":{"name":"Déficit congénital de synthèse des acides biliaires type 2","synonyms":["Cholestase par déficit en delta(4)-3-oxostéroïde 5-bêta-reductase","DSAB2"],"definition":"Le déficit congénital de synthèse des acides biliaires (SAB) type 2 est une anomalie de la SAB caractérisée par une cholestase hépatique sévère et rapidement progressive avec malabsorption des graisses et des vitamines liposolubles."},"de":{"name":"Gallensäuresynthesedefekt, kongenitaler, Typ 2","synonyms":["BASD2","Cholestase mit delta(4)-3-Oxosteroid 5-beta-Reduktase-Mangel"],"definition":"Der Typ 2 der Kongenitalen Defekte der Gallensäure-Synthese (BAS-Defekt Typ 2) ist eine Anomalie der Gallensäuren-Synthese und gekennzeichnet durch schwere und schnell progrediente cholestatische Hepatopathie.mit Malabsorption von Fett und fettlöslichen Vitaminen."},"es":{"name":"Defecto congénito de la síntesis de ácidos biliares tipo 2","synonyms":["BASD2","Colestasis con deficiencia de delta(4)-3-oxosteroide 5-beta-reductasa"],"definition":"El defecto congénito de la síntesis de ácidos biliares de tipo 2 (Defecto de la SAB, tipo 2) es una anomalía de la síntesis de ácidos biliares (ver este término) que se caracteriza por una enfermedad hepática colestásica progresiva grave y rápida, así como por la malabsorción de grasas y de vitaminas liposolubles."},"it":{"name":"Difetto congenito della sintesi degli acidi biliari, tipo 2"},"nl":{"name":"Congenitaal defect van galzuursynthese type 2","synonyms":["BASD2","Cholestase met deficiëntie van delta(4)-3-oxosteroïd 5-bèta-reductase"],"definition":"Congenitaal defect van galzuursynthese type 2 (BAS defect type 2) is een anomalie van galzuursynthese, gekenmerkt door ernstige en snel progressieve cholestatische leverziekte, en malabsorptie van vet en vetoplosbare vitaminen."},"pt":{"name":"Defeito congénito da síntese de ácidos biliares tipo 2","synonyms":["BASD2","Colestase com deficiência de delta(4)-3-oxoesteroide 5-beta-reductase"],"definition":"A deficiência congénita da síntese dos ácidos biliares tipo 2 (deficiência BAS tipo 2) é uma anomalia da síntese dos ácidos biliares (ver este termo), caracterizada por doença hepática colestática grave e rapidamente progressiva e má absorção de gorduras e vitaminas soluveis em gordura."},"pl":{"name":"Wrodzony defekt syntezy kwasów żółciowych typu 2","synonyms":["BASD2","Cholestaza z niedoborem delta(4)-3-oksosteroido 5-beta-reduktazy"]},"cs":{"name":"Vrozený defekt syntézy žlučových kyselin, typ 2","synonyms":["Cholestáza, s deficitem delta(4)-3-oxosteroid-5-beta-reduktázy"]},"uk":{"name":"Вроджений дефект синтезу жовчних кислот, тип 2","synonyms":["BASD2","Холестаз при дефіциті дельта(4)-3-оксостероїдної 5-бета-редуктази"],"definition":"Congenital bile acid synthesis defect type 2 (BAS defect type 2) is an anomaly of bile acid synthesis (see this term) characterized by severe and rapidly progressive cholestatic liver disease, and malabsorption of fat and fat-soluble vitamins."},"zh":{"name":"先天性胆汁酸合成缺陷3型","synonyms":["胆汁淤积伴δ（4）-3-酮基-5-β-还原酶缺乏"]},"tr":{"name":"Doğumsal safra asidi sentez bozukluğu tip 2","synonyms":["BASD2","Delta (4) -3-oksosteroid 5-beta-redüktaz eksikliği ile seyreden kolestaz"]}},"xrefs":[{"source":"OMIM","code":"235555","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":"383380992"},{"source":"MONDO","code":"0009339","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C535443","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1856127","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"10045","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":"AKR1D1","name":"aldo-keto reductase family 1 member D1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"12970144[PMID]","hgnc":"388","ensembl":"ENSG00000122787","omim":"604741","loci":["7q33"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Worldwide","status":"Not yet validated","source":"ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2021-11-29","source":"3198770[PMID]_12970144[PMID]","terms":[{"hpo":"HP:0012379","label":"Abnormal enzyme/coenzyme activity","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0200084","label":"Giant cell hepatitis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002904","label":"Hyperbilirubinemia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0030984","label":"Abnormal serum bile acid concentration","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003256","label":"Abnormality of the coagulation cascade","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001396","label":"Cholestasis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002908","label":"Conjugated hyperbilirubinemia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0040319","label":"Dark urine","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003155","label":"Elevated circulating alkaline phosphatase concentration","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002910","label":"Elevated circulating hepatic transaminase concentration","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001978","label":"Extramedullary hematopoiesis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001508","label":"Failure to thrive","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:0001397","label":"Hepatic steatosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002240","label":"Hepatomegaly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0025435","label":"Increased circulating lactate dehydrogenase concentration","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000952","label":"Jaundice","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0100513","label":"Low levels of vitamin E","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0008897","label":"Postnatal growth retardation","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0006579","label":"Prolonged neonatal jaundice","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003645","label":"Prolonged partial thromboplastin time","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0008151","label":"Prolonged prothrombin time","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002570","label":"Steatorrhea","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0011040","label":"Abnormality of the intrahepatic bile duct","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000107","label":"Renal cyst","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002748","label":"Rickets","frequency":"Occasional (29-5%)","criteria":null}]}}