KEGG   DISEASE: Congenital bile acid synthesis defectHelp
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
Congenital disorder of metabolism
Brite
Human diseases [BR:br08402]
 Digestive system diseases
  Liver diseases
   H00628  Congenital bile acid synthesis defect
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
BRITE hierarchy
Pathway
hsa00120 Primary bile acid biosynthesis   
hsa00140 Steroid hormone biosynthesis   
hsa04146 Peroxisome   
Network
nt06022  Bile acid biosynthesis
  Element
N00806  ACOX2 deficiency in bile acid biosynthesis
N00807  AMACR deficiency in bile acid biosynthesis
N00809  AKR1D1 deficiency in bile acid biosynthesis
N00810  HSD3B7 deficiency in bile acid biosynthesis
N00811  CYP7B1 deficiency in 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]
Comment
Cerebrotendinous xanthomatosis [DS:H00151] and Zellweger syndrome [DS:H00205] are also involved disorders in bile acid synthesis.
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
  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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