{"orpha":79301,"name":"Congenital bile acid synthesis defect type 1","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["3-beta-hydroxy-delta-5-C27-steroid oxidoreductase deficiency","BASD1"],"definition":"Congenital bile acid synthesis defect type 1 (BAS defect type 1) is the most common anomaly of bile acid synthesis characterized by variable manifestations of progressive cholestatic liver disease, and fat malabsorption.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-79301/","orphanet_url":"https://www.orpha.net/en/disease/detail/79301","names":{"fr":{"name":"Déficit congénital de synthèse des acides biliaires type 1","synonyms":["Déficit en 3-bêta-hydroxy-delta-5-C27-steroïde oxydoréductase","DSAB1"],"definition":"Le déficit congénital de synthèse des acides biliaires type 1 est la plus fréquente des anomalies de la synthèse des acides biliaires (SAB). Il est caractérisé par diverses manifestations de cholestase hépatique progressive et de malabsorption des lipides."},"de":{"name":"Gallensäuresynthesedefekt, kongenitaler, Typ 1","synonyms":["3-beta-Hydroxy-Delta-5-C27-Steroid-Oxidoreduktase-Mangel","BASD1"],"definition":"Der Typ 1 der Kongenitalen Defekte der Gallensäure-Synthese (BAS-Defekt Typ 1) ist die häufigste Anomalie der Gallensäure-Synthese und gekennzeichnet durch unterschiedliche Zeichen einer progredienten cholestatischen Lebererkrankung und Fett-Malabsorption."},"es":{"name":"Defecto congénito de la síntesis de ácidos biliares tipo 1","synonyms":["BASD1","Deficiencia de 3-beta-hidroxi-delta-5-C27-esteroide oxidorreductasa"],"definition":"El defecto congénito de la síntesis de ácidos biliares tipo 1 (defecto de la SAB, tipo 1) es la anomalía más común de la síntesis de ácidos biliares (ver este término), caracterizada por manifestaciones variables de enfermedad hepática colestásica progresiva y de malabsorción de grasas."},"it":{"name":"Difetto congenito della sintesi degli acidi biliari, tipo 1"},"nl":{"name":"Congenitaal defect van galzuursynthese type 1","synonyms":["BASD1","Deficiëntie van 3-bèta-hydroxy-delta-5-C27-steroïd-oxidoreductase"],"definition":"Congenitaal defect van galzuursynthese type 1 (BAS defect type 1) is de meest voorkomende anomalie van galzuursynthese, gekenmerkt door variabele manifestaties van progressieve cholestatische leverziekte, en malabsorptie van vet."},"pt":{"name":"Defeito congénito da síntese de ácidos biliares tipo 1","synonyms":["BASD1","Deficiência de 3-beta-hidroxi-delta-5-C27-esteroide oxidoreductase"],"definition":"A deficiência congénita da síntese dos ácidos biliares tipo 1 (deficiência dos BAS tipo 1) é a anomalia mais comum da síntese dos ácidos biliares (ver este termo), sendo caracterizada por manifestações variáveis de doença hepática colestática progressiva, e má absorção de gordura."},"pl":{"name":"Wrodzony defekt syntezy kwasów żółciowych typu 1","synonyms":["BASD1","Niedobór oksydoreduktazy 3-beta-hydroksy-delta-5-C27-steroidowej"]},"cs":{"name":"Vrozený defekt syntézy žlučových kyselin, typ 1","synonyms":["Deficit 3-beta-hydroxy-delta-5-C27-steroid-oxidoreduktázy"]},"uk":{"name":"Вроджений дефект синтезу жовчних кислот, тип 1","synonyms":["Дефіцит 3-бета-гідрокси-дельта-5-С27-стероїдооксидоредуктази","BASD1"],"definition":"Congenital bile acid synthesis defect type 1 (BAS defect type 1) is the most common anomaly of bile acid synthesis (see this term) characterized by variable manifestations of progressive cholestatic liver disease, and fat malabsorption."},"zh":{"name":"先天性胆汁酸合成缺陷1型","synonyms":["3-β-羟基-δ-5-C27-类固醇氧化还原酶缺乏症"]},"tr":{"name":"Doğumsal safra asidi sentez bozukluğu tip 1","synonyms":["BASD1","3-beta-hidroksi-delta-5-C27-steroid oksidoredüktaz eksikliği"]}},"xrefs":[{"source":"OMIM","code":"607765","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":"352753987"},{"source":"MONDO","code":"0011906","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C535442","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1843116","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"9813","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":"HSD3B7","name":"hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 7","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"12679481[PMID]","hgnc":"18324","ensembl":"ENSG00000099377","omim":"607764","loci":["16p11.2"]}],"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":"2016-06-01","source":null,"terms":[{"hpo":"HP:0001080","label":"Biliary tract abnormality","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002910","label":"Elevated circulating hepatic transaminase concentration","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001508","label":"Failure to thrive","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002240","label":"Hepatomegaly","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000952","label":"Jaundice","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002024","label":"Malabsorption","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0006566","label":"Neonatal cholestatic liver disease","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001928","label":"Abnormality of coagulation","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002239","label":"Gastrointestinal hemorrhage","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001744","label":"Splenomegaly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001892","label":"Abnormal bleeding","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001394","label":"Cirrhosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000662","label":"Nyctalopia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000939","label":"Osteoporosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0009830","label":"Peripheral neuropathy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000989","label":"Pruritus","frequency":"Occasional (29-5%)","criteria":null}]}}