CBA
MCID: CNG002
MIFTS: 31

Congenital Bile Acid Synthesis Defect (CBA)

Categories: Blood diseases, Gastrointestinal diseases, Genetic diseases, Liver diseases, Metabolic diseases, Nephrological diseases, Neuronal diseases, Oral diseases, Rare diseases

Aliases & Classifications for Congenital Bile Acid Synthesis Defect

MalaCards integrated aliases for Congenital Bile Acid Synthesis Defect:

Name: Congenital Bile Acid Synthesis Defect 12 58 36 6 15 17
Cholestasis with Delta(4)-3-Oxosteroid-5-Beta-Reductase Deficiency 12
3-Beta-Hydroxy-Delta-5-C27-Steroid Oxidoreductase Deficiency 12
Bile Acid Synthesis Defect, Congenital, 1 71
Basd 58
Cba 12

Classifications:

Orphanet: 58  
Rare hepatic diseases
Inborn errors of metabolism


External Ids:

Disease Ontology 12 DOID:0050674
KEGG 36 H00628
ICD10 32 K76.8
Orphanet 58 ORPHA485631
UMLS 71 C1843116

Summaries for Congenital Bile Acid Synthesis Defect

KEGG : 36 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.

MalaCards based summary : Congenital Bile Acid Synthesis Defect, also known as cholestasis with delta(4)-3-oxosteroid-5-beta-reductase deficiency, is related to bile acid synthesis defect, congenital, 2 and bile acid synthesis defect, congenital, 4, and has symptoms including diarrhea and icterus. An important gene associated with Congenital Bile Acid Synthesis Defect is AKR1D1 (Aldo-Keto Reductase Family 1 Member D1), and among its related pathways/superpathways are Primary bile acid biosynthesis and Steroid hormone biosynthesis. Affiliated tissues include liver.

Disease Ontology : 12 A steroid inherited metabolic disorder characterized by abnormal conversion of cholesterol into bile acids which occurs predominantly in the liver.

Related Diseases for Congenital Bile Acid Synthesis Defect

Diseases in the Disorder of Bile Acid Synthesis family:

Bile Acid Synthesis Defect, Congenital, 4 Bile Acid Synthesis Defect, Congenital, 2
Bile Acid Synthesis Defect, Congenital, 1 Bile Acid Synthesis Defect, Congenital, 3
Bile Acid Synthesis Defect, Congenital, 5 Bile Acid Synthesis Defect, Congenital, 6
Congenital Bile Acid Synthesis Defect

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

(show top 50) (show all 186)
# Related Disease Score Top Affiliating Genes
1 bile acid synthesis defect, congenital, 2 33.5 HSD3B7 AKR1D1
2 bile acid synthesis defect, congenital, 4 33.3 C1QTNF3-AMACR AMACR
3 bile acid synthesis defect, congenital, 3 33.1 HSD3B7 CYP7B1 AKR1D1
4 bile acid synthesis defect, congenital, 1 12.2
5 bile acid synthesis defect, congenital, 5 11.9
6 bile acid synthesis defect, congenital, 6 11.8
7 cholestasis, progressive familial intrahepatic, 4 11.8
8 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 10.5
9 age-related hearing loss 10.4
10 cytokine deficiency 10.3
11 cholestasis-lymphedema syndrome 10.2 HSD3B7 AKR1D1
12 prostate transitional cell carcinoma 10.2 AMACR ABCD3
13 schistosoma mansoni infection, susceptibility/ 10.2
14 allergic disease 10.2
15 schistosomiasis 10.2
16 myeloid leukemia 10.2
17 leukemia, acute myeloid 10.1
18 amyloidosis 10.1
19 osteogenic sarcoma 10.1
20 aging 10.1
21 kala-azar 1 10.1
22 sensorineural hearing loss 10.1
23 retinal degeneration 10.1
24 leishmaniasis 10.1
25 48,xyyy 10.1
26 splenomegaly 10.1
27 west nile fever 10.1 DEFB105B DEFB105A
28 autosomal recessive disease 10.1
29 cholestasis 10.1
30 osteopetrosis, autosomal recessive 2 10.1 DEFB105B DEFB105A
31 autoimmune disease 10.1
32 hearing loss, noise-induced 10.1
33 vasculitis 10.1
34 peroxisomal biogenesis disorder 10.0 ACOX2 ABCD3
35 branchiootic syndrome 1 10.0
36 alpha/beta t-cell lymphopenia with gamma/delta t-cell expansion, severe cytomegalovirus infection, and autoimmunity 10.0
37 peritonitis 10.0
38 toxoplasmosis 10.0
39 uterine sarcoma 10.0
40 alpha-methylacyl-coa racemase deficiency 10.0 C1QTNF3-AMACR AMACR AKR1D1 ACOX2
41 hashimoto thyroiditis 10.0
42 type 1 diabetes mellitus 10.0
43 diamond-blackfan anemia 2 10.0
44 malaria 10.0
45 pre-eclampsia 10.0
46 portal hypertension 10.0
47 sarcoma 10.0
48 leukemia 10.0
49 exocrine pancreatic insufficiency 10.0
50 b cell deficiency 10.0

Graphical network of the top 20 diseases related to Congenital Bile Acid Synthesis Defect:



Diseases related to Congenital Bile Acid Synthesis Defect

Symptoms & Phenotypes for Congenital Bile Acid Synthesis Defect

UMLS symptoms related to Congenital Bile Acid Synthesis Defect:


diarrhea, icterus

Drugs & Therapeutics for Congenital Bile Acid Synthesis Defect

Search Clinical Trials , NIH Clinical Center for Congenital Bile Acid Synthesis Defect

Genetic Tests for Congenital Bile Acid Synthesis Defect

Anatomical Context for Congenital Bile Acid Synthesis Defect

MalaCards organs/tissues related to Congenital Bile Acid Synthesis Defect:

40
Liver

Publications for Congenital Bile Acid Synthesis Defect

Articles related to Congenital Bile Acid Synthesis Defect:

# Title Authors PMID Year
1
[Clinical characteristics and gene variants of patients with infantile intrahepatic cholestasis]. 61
33476544 2021
2
[Clinical feature and genetic analysis of a family affected by congenital bile acid synthesis defect type 2: identification of 2 novel mutations in AKR1D1 gene]. 61
28697823 2017
3
Cytochrome P450s in the synthesis of cholesterol and bile acids--from mouse models to human diseases. 61
22111624 2012

Variations for Congenital Bile Acid Synthesis Defect

ClinVar genetic disease variations for Congenital Bile Acid Synthesis Defect:

6
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 CYP7B1 NM_004820.5(CYP7B1):c.1310G>A (p.Cys437Tyr) SNV Uncertain significance 363579 rs886063072 8:65509410-65509410 8:64596853-64596853
2 CYP7B1 NM_004820.5(CYP7B1):c.957T>C (p.Arg319=) SNV Uncertain significance 363583 rs886063073 8:65527683-65527683 8:64615126-64615126
3 AKR1D1 NM_005989.4(AKR1D1):c.*1372dup Duplication Uncertain significance 358995 rs199524592 7:137802770-137802771 7:138118024-138118025
4 CYP7B1 NM_004820.5(CYP7B1):c.123-19dup Duplication Uncertain significance 363589 rs8192895 8:65537104-65537105 8:64624547-64624548
5 CYP7B1 NM_004820.5(CYP7B1):c.1323G>A (p.Pro441=) SNV Uncertain significance 363578 rs201281307 8:65509397-65509397 8:64596840-64596840
6 CYP7B1 NM_004820.5(CYP7B1):c.260-15dup Duplication Uncertain significance 281577 rs8192896 8:65528842-65528843 8:64616285-64616286

Expression for Congenital Bile Acid Synthesis Defect

Search GEO for disease gene expression data for Congenital Bile Acid Synthesis Defect.

Pathways for Congenital Bile Acid Synthesis Defect

Pathways related to Congenital Bile Acid Synthesis Defect according to KEGG:

36
# Name Kegg Source Accession
1 Primary bile acid biosynthesis hsa00120
2 Steroid hormone biosynthesis hsa00140
3 Peroxisome hsa04146

GO Terms for Congenital Bile Acid Synthesis Defect

Cellular components related to Congenital Bile Acid Synthesis Defect according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 peroxisome GO:0005777 9.13 AMACR ACOX2 ABCD3
2 peroxisomal matrix GO:0005782 8.8 AMACR ACOX2 ABCD3

Biological processes related to Congenital Bile Acid Synthesis Defect according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 fatty acid beta-oxidation using acyl-CoA oxidase GO:0033540 9.16 AMACR ACOX2
2 bile acid biosynthetic process GO:0006699 9.02 HSD3B7 CYP7B1 AMACR AKR1D1 ACOX2
3 B cell chemotaxis GO:0035754 8.96 HSD3B7 CYP7B1

Sources for Congenital Bile Acid Synthesis Defect

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-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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