KEGG   DISEASE: Congenital bile acid synthesis defect
Entry
H00628                      Disease                                
Name
Congenital bile acid synthesis defect
  Subgroup
Cerebrotendinous xanthomatosis [DS:H00151]
Zellweger syndrome [DS:H01342]
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
Brite
Human diseases in ICD-11 classification [BR:br08403]
 05 Endocrine, nutritional or metabolic diseases
  Metabolic disorders
   Inborn errors of metabolism
    5C52  Inborn errors of lipid metabolism
     H00628  Congenital bile acid synthesis defect
Pathway-based classification of diseases [BR:br08402]
 Lipid/glycolipid metabolism
  nt06022  Bile acid biosynthesis
   H00628  Congenital bile acid synthesis defect
Pathway
hsa00120  Primary bile acid biosynthesis
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]
Other DBs
ICD-11: 5C52.11
MeSH: C535442 C535443 C566340 C535444 C563673 C567703
OMIM: 607765 235555 613812 214950 213700 616278 617308
Reference
  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
Reference
  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
Reference
  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
Reference
  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
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