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  • Wrong UID 1054256

Congenital bile acid synthesis defect 1(CBAS1)

MedGen UID:
335883
Concept ID:
C1843116
Disease or Syndrome
Synonyms: 3-alpha beta-hydroxy-delta-5-c27-steroid oxidoreductase, deficiency of; 3-BETA-HYDROXY-DELTA-5-C27-STEROID OXIDOREDUCTASE DEFICIENCY; CBAS1
SNOMED CT: 3-Beta-hydroxy-delta-5-C27-steroid dehydrogenase deficiency (238033007); Congenital bile acid synthesis defect type 1 (238033007)
Modes of inheritance:
 
HSD3B7 (16p11.2)
 
Monarch Initiative: MONDO:0011906
OMIM®: 607765
Orphanet: ORPHA79301

Definition

Congenital defects of bile acid synthesis are autosomal recessive disorders characterized by neonatal onset of progressive liver disease with cholestatic jaundice and malabsorption of lipids and lipid-soluble vitamins from the gastrointestinal tract resulting from a primary failure to synthesize bile acids. Affected infants show failure to thrive and secondary coagulopathy. In most forms of the disorder, there is a favorable response to oral bile acid therapy (summary by Cheng et al., 2003). Genetic Heterogeneity of Congenital Defects in Bile Acid Synthesis There are several disorders that result from defects in bile acid synthesis. See CBAS2 (235555), caused by mutation in the delta(4)-3-oxosteroid 5-beta-reductase gene (AKR1D1; 604741) on chromosome 7q33; CBAS3 (613812), caused by mutation in the 7-alpha hydroxylase gene (CYP7B1; 603711) on chromosome 8q12; CBAS4 (214950), caused by mutation in the AMACR gene (604489) on chromosome 5p13; CBAS5 (616278), caused by mutation in the ABCD3 gene (170995) on chromosome 1p21; and CBAS6 (617308), caused by mutation in the ACOX2 gene (601641) on chromosome 3p14. See also progressive familial intrahepatic cholestasis (PFIC1; 211600), which has a similar phenotype. [from OMIM]

Additional description

From MedlinePlus Genetics
Congenital bile acid synthesis defect type 1 is a disorder characterized by cholestasis, a condition that impairs the production and release of a digestive fluid called bile from liver cells. Bile is used during digestion to absorb fats and fat-soluble vitamins, such as vitamins A, D, E, and K. People with congenital bile acid synthesis defect type 1 cannot produce (synthesize) bile acids, which are a component of bile that stimulate bile flow and help it absorb fats and fat-soluble vitamins. As a result, an abnormal form of bile is produced.

The signs and symptoms of congenital bile acid synthesis defect type 1 often develop during the first weeks of life, but they can begin anytime from infancy into adulthood. Affected infants often have a failure to gain weight and grow at the expected rate (failure to thrive) and yellowing of the skin and eyes (jaundice) due to impaired bile flow and a buildup of partially formed bile. Excess fat in the feces (steatorrhea) is an additional feature of congenital bile acid synthesis defect type 1. As the condition progresses, affected individuals can develop liver abnormalities including an enlarged liver (hepatomegaly), inflammation, or chronic liver disease (cirrhosis). The spleen may also become enlarged (splenomegaly). The inability to absorb certain fat-soluble vitamins (vitamin D in particular) can result in softening and weakening of the bones (rickets) in some individuals.

If left untreated, congenital bile acid synthesis defect type 1 often leads to cirrhosis and death in childhood.  https://medlineplus.gov/genetics/condition/congenital-bile-acid-synthesis-defect-type-1

Clinical features

From HPO

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVCongenital bile acid synthesis defect 1

Professional guidelines

PubMed

Fang Y, Zhang Z, Zhao Y, Sun G, Peng M, Liu C, Yi G, Zhao K, Yang H
Clin Chim Acta 2023 Apr 1;544:117330. Epub 2023 Apr 8 doi: 10.1016/j.cca.2023.117330. PMID: 37037297
Miyano T, Yamashiro Y, Shimizu T, Arai T, Suruga T, Hayasawa H
J Pediatr Surg 1986 Mar;21(3):277-81. doi: 10.1016/s0022-3468(86)80854-5. PMID: 3083086
Sherlock S
Br Med J 1968 Aug 31;3(5617):515-21. doi: 10.1136/bmj.3.5617.515. PMID: 4971054Free PMC Article

Recent clinical studies

Etiology

Kavallar AM, Mayerhofer C, Aldrian D, Okamoto T, Müller T, Vogel GF
Hepatol Commun 2023 Oct 1;7(10) Epub 2023 Sep 27 doi: 10.1097/HC9.0000000000000286. PMID: 37756114Free PMC Article
Ballout RA, Livinski A, Fu YP, Steiner RD, Remaley AT
Cochrane Database Syst Rev 2022 Nov 14;11(11):CD013521. doi: 10.1002/14651858.CD013521.pub2. PMID: 36373961Free PMC Article
Kahn E
Pediatr Dev Pathol 2004 Mar-Apr;7(2):109-24. Epub 2004 Mar 4 doi: 10.1007/s10024-003-0307-y. PMID: 14994122
Colombo C, Okolicsanyi L, Strazzabosco M
Dig Liver Dis 2000 Mar;32(2):152-9. doi: 10.1016/s1590-8658(00)80403-x. PMID: 10975791
Reichen J
Semin Liver Dis 1983 Feb;3(1):24-35. doi: 10.1055/s-2008-1040668. PMID: 6836332

Diagnosis

Al Housni S, Al-Thihli K, Rahmatalla D, Wali Y, Al Rawahi Y
Sultan Qaboos Univ Med J 2023 Nov;23(4):543-546. Epub 2023 Nov 30 doi: 10.18295/squmj.8.2022.052. PMID: 38090248Free PMC Article
Ballout RA, Livinski A, Fu YP, Steiner RD, Remaley AT
Cochrane Database Syst Rev 2022 Nov 14;11(11):CD013521. doi: 10.1002/14651858.CD013521.pub2. PMID: 36373961Free PMC Article
Devictor D, Tissieres P, Afanetti M, Debray D
Clin Res Hepatol Gastroenterol 2011 Jun;35(6-7):430-7. Epub 2011 Apr 30 doi: 10.1016/j.clinre.2011.03.005. PMID: 21531191
Kahn E
Pediatr Dev Pathol 2004 Mar-Apr;7(2):109-24. Epub 2004 Mar 4 doi: 10.1007/s10024-003-0307-y. PMID: 14994122
Reichen J
Semin Liver Dis 1983 Feb;3(1):24-35. doi: 10.1055/s-2008-1040668. PMID: 6836332

Therapy

Kavallar AM, Mayerhofer C, Aldrian D, Okamoto T, Müller T, Vogel GF
Hepatol Commun 2023 Oct 1;7(10) Epub 2023 Sep 27 doi: 10.1097/HC9.0000000000000286. PMID: 37756114Free PMC Article
Ballout RA, Livinski A, Fu YP, Steiner RD, Remaley AT
Cochrane Database Syst Rev 2022 Nov 14;11(11):CD013521. doi: 10.1002/14651858.CD013521.pub2. PMID: 36373961Free PMC Article
Lemmer A, VanWagner L, Gasanova Z, Helmke S, Everson GT, Ganger D
Congenit Heart Dis 2019 Nov;14(6):978-986. Epub 2019 Aug 1 doi: 10.1111/chd.12831. PMID: 31369200Free PMC Article
Gonzales E, Matarazzo L, Franchi-Abella S, Dabadie A, Cohen J, Habes D, Hillaire S, Guettier C, Taburet AM, Myara A, Jacquemin E
Orphanet J Rare Dis 2018 Oct 29;13(1):190. doi: 10.1186/s13023-018-0920-5. PMID: 30373615Free PMC Article
Nagasaka H, Miida T, Yorifuji T, Hirano K, Inui A, Fujisawa T, Tsukahara H, Hayashi H, Inomata Y
Clin Chim Acta 2013 Apr 18;419:52-6. Epub 2013 Feb 8 doi: 10.1016/j.cca.2013.01.016. PMID: 23399721

Prognosis

Lin Y, Zhang F, Zhang L, Chen L, Zheng S
Stem Cell Res Ther 2022 Mar 21;13(1):114. doi: 10.1186/s13287-022-02795-2. PMID: 35313986Free PMC Article
Lemmer A, VanWagner L, Gasanova Z, Helmke S, Everson GT, Ganger D
Congenit Heart Dis 2019 Nov;14(6):978-986. Epub 2019 Aug 1 doi: 10.1111/chd.12831. PMID: 31369200Free PMC Article
Vitale G, Gitto S, Raimondi F, Mattiaccio A, Mantovani V, Vukotic R, D'Errico A, Seri M, Russell RB, Andreone P
J Gastroenterol 2018 Aug;53(8):945-958. Epub 2017 Dec 13 doi: 10.1007/s00535-017-1423-1. PMID: 29238877
Subramaniam P, Knisely A, Portmann B, Qureshi SA, Aclimandos WA, Karani JB, Baker AJ
J Pediatr Gastroenterol Nutr 2011 Jan;52(1):84-9. doi: 10.1097/MPG.0b013e3181f1572d. PMID: 21119543
Bove KE, Heubi JE, Balistreri WF, Setchell KD
Pediatr Dev Pathol 2004 Jul-Aug;7(4):315-34. Epub 2004 Jul 15 doi: 10.1007/s10024-002-1201-8. PMID: 15383928

Clinical prediction guides

Vasudevan AK, Shanmugam N, Rammohan A, Valamparampil JJ, Rinaldhy K, Menon J, Thambithurai R, Namasivayam S, Kaliamoorthy I, Rela M
Pediatr Transplant 2023 Dec;27(8):e14600. Epub 2023 Sep 7 doi: 10.1111/petr.14600. PMID: 37675889
Fang Y, Zhang Z, Zhao Y, Sun G, Peng M, Liu C, Yi G, Zhao K, Yang H
Clin Chim Acta 2023 Apr 1;544:117330. Epub 2023 Apr 8 doi: 10.1016/j.cca.2023.117330. PMID: 37037297
Lin Y, Zhang F, Zhang L, Chen L, Zheng S
Stem Cell Res Ther 2022 Mar 21;13(1):114. doi: 10.1186/s13287-022-02795-2. PMID: 35313986Free PMC Article
Gonzales E, Matarazzo L, Franchi-Abella S, Dabadie A, Cohen J, Habes D, Hillaire S, Guettier C, Taburet AM, Myara A, Jacquemin E
Orphanet J Rare Dis 2018 Oct 29;13(1):190. doi: 10.1186/s13023-018-0920-5. PMID: 30373615Free PMC Article
Kremer AE, Gonzales E, Schaap FG, Oude Elferink RP, Jacquemin E, Beuers U
J Pediatr Gastroenterol Nutr 2016 Apr;62(4):530-5. doi: 10.1097/MPG.0000000000001044. PMID: 26628447

Recent systematic reviews

Kavallar AM, Mayerhofer C, Aldrian D, Okamoto T, Müller T, Vogel GF
Hepatol Commun 2023 Oct 1;7(10) Epub 2023 Sep 27 doi: 10.1097/HC9.0000000000000286. PMID: 37756114Free PMC Article
Ballout RA, Livinski A, Fu YP, Steiner RD, Remaley AT
Cochrane Database Syst Rev 2022 Nov 14;11(11):CD013521. doi: 10.1002/14651858.CD013521.pub2. PMID: 36373961Free PMC Article

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