| H00628 | |
| H number | H00628 |
| Name | Congenital bile acid synthesis defect |
| Description | Congenital bile acid synthesis defects (CBAS) involve congenital deficiencies in enzymes responsible for catalyzing key reactions in bile acid synthesis. CBAS type 1, 2 ,3 and 4 are due to mutations in HSD3B7, AKR1D1, CYP7B1, and AMACR, respectively. Inherited mutations that impair bile acid synthesis cause a spectrum of human disease ranging from liver failure in early childhood to progressive neuropathy in adults. |
| Category | Inherited metabolic disorder |
| Network | nt06022 Bile acid biosynthesis |
| Gene | (CBAS1) HSD3B7 [HSA:80270] [KO:K12408] (CBAS2) AKR1D1 [HSA:6718] [KO:K00251] (CBAS3) CYP7B1 [HSA:9420] [KO:K07430] (CBAS4) AMACR [HSA:23600] [KO:K01796] (CBAS5) ABCD3 [HSA:5825] [KO:K05677] (CBAS6) ACOX2 [HSA:8309] [KO:K10214] |
| Pathogen | - |
| Env factor | - |
| Carcinogen | - |
| Drug | - |
| Comment | - |
| Other DBs | ICD-11: 5C52.11 ICD-10: K76.8 MeSH: C535442 C535443 C566340 C535444 C563673 C567703 OMIM: 607765 235555 613812 214950 213700 616278 617308 |
| Reference | PMID:18577977 AUTHORS Sundaram SS, Bove KE, Lovell MA, Sokol RJ TITLE Mechanisms of disease: Inborn errors of bile acid synthesis. JOURNAL Nat Clin Pract Gastroenterol Hepatol 5:456-68 (2008) DOI:10.1038/ncpgasthep1179 PMID:15937079 AUTHORS van Mil SW, Houwen RH, Klomp LW TITLE Genetics of familial intrahepatic cholestasis syndromes. JOURNAL J Med Genet 42:449-63 (2005) DOI:10.1136/jmg.2004.026187 PMID:25168382 AUTHORS Ferdinandusse S, Jimenez-Sanchez G, Koster J, Denis S, Van Roermund CW, Silva-Zolezzi I, Moser AB, Visser WF, Gulluoglu M, Durmaz O, Demirkol M, Waterham HR, Gokcay G, Wanders RJ, Valle D TITLE A novel bile acid biosynthesis defect due to a deficiency of peroxisomal ABCD3. JOURNAL Hum Mol Genet 24:361-70 (2015) DOI:10.1093/hmg/ddu448 PMID:27884763 AUTHORS Monte MJ, Alonso-Pena M, Briz O, Herraez E, Berasain C, Argemi J, Prieto J, Marin JJG TITLE ACOX2 deficiency: An inborn error of bile acid synthesis identified in an adolescent with persistent hypertransaminasemia. JOURNAL J Hepatol 66:581-588 (2017) DOI:10.1016/j.jhep.2016.11.005 |