BACD1
MCID: BLC020
MIFTS: 9

Bile Acid Conjugation Defect 1 (BACD1)

Categories: Genetic diseases, Liver diseases

Aliases & Classifications for Bile Acid Conjugation Defect 1

MalaCards integrated aliases for Bile Acid Conjugation Defect 1:

Name: Bile Acid Conjugation Defect 1 57
Bacd1 57

Classifications:



External Ids:

OMIM® 57 619232

Summaries for Bile Acid Conjugation Defect 1

OMIM® : 57 Bile acid conjugation defect-1 (BACD1) is an autosomal recessive metabolic disorder characterized by onset of symptoms, including jaundice and failure to thrive, in early infancy. The clinical features of the disorder result from impaired absorption of fat-soluble vitamins. Vitamin D deficiency causes rickets with variable growth deficiency, and vitamin K deficiency causes a coagulopathy with decreased production of vitamin K-dependent clotting factors. More variable features may include pruritis, anemia, hepatomegaly, and bile duct proliferation on liver biopsy. Laboratory studies show abnormally increased levels of unconjugated bile acids (summary by Setchell et al., 2013). See also familial hypercholanemia (FHCA; 607748), in which patients have increased serum bile levels of conjugated bile acids. (619232) (Updated 05-Apr-2021)

MalaCards based summary : Bile Acid Conjugation Defect 1, also known as bacd1, is related to hypercholanemia, familial. An important gene associated with Bile Acid Conjugation Defect 1 is BAAT (Bile Acid-CoA:Amino Acid N-Acyltransferase).

Related Diseases for Bile Acid Conjugation Defect 1

Diseases related to Bile Acid Conjugation Defect 1 via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 hypercholanemia, familial 11.4

Symptoms & Phenotypes for Bile Acid Conjugation Defect 1

Clinical features from OMIM®:

619232 (Updated 05-Apr-2021)

Drugs & Therapeutics for Bile Acid Conjugation Defect 1

Search Clinical Trials , NIH Clinical Center for Bile Acid Conjugation Defect 1

Genetic Tests for Bile Acid Conjugation Defect 1

Anatomical Context for Bile Acid Conjugation Defect 1

Publications for Bile Acid Conjugation Defect 1

Articles related to Bile Acid Conjugation Defect 1:

# Title Authors PMID Year
1
Genetic defects in bile acid conjugation cause fat-soluble vitamin deficiency. 57
23415802 2013
2
Complex inheritance of familial hypercholanemia with associated mutations in TJP2 and BAAT. 57
12704386 2003
3
Targeting oncogenic transcriptional corepressor Nac1 POZ domain with conformationally constrained peptides by cyclization and stapling. 61
29864683 2018

Variations for Bile Acid Conjugation Defect 1

Expression for Bile Acid Conjugation Defect 1

Search GEO for disease gene expression data for Bile Acid Conjugation Defect 1.

Pathways for Bile Acid Conjugation Defect 1

GO Terms for Bile Acid Conjugation Defect 1

Sources for Bile Acid Conjugation Defect 1

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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