CBA
MCID: CNG002
MIFTS: 37

Congenital Bile Acid Synthesis Defect (CBA)

Categories: Blood diseases, Endocrine diseases, Gastrointestinal diseases, Genetic diseases, Liver diseases, Metabolic diseases, Nephrological diseases, Neuronal diseases, Rare diseases
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Aliases & Classifications for Congenital Bile Acid Synthesis Defect

MalaCards integrated aliases for Congenital Bile Acid Synthesis Defect:

Name: Congenital Bile Acid Synthesis Defect 11 58 28 5 14 16
Cholestasis with Delta(4)-3-Oxosteroid-5-Beta-Reductase Deficiency 11
3-Beta-Hydroxy-Delta-5-C27-Steroid Oxidoreductase Deficiency 11
Bile Acid Synthesis Defect, Congenital, 1 71
Basd 58
Cba 11

Classifications:

Orphanet: 58  
Rare hepatic diseases
Inborn errors of metabolism


External Ids:

Disease Ontology 11 DOID:0050674
ICD10 31 K76.8
Orphanet 58 ORPHA485631
UMLS 71 C1843116

Summaries for Congenital Bile Acid Synthesis Defect

Disease Ontology: 11 A steroid inherited metabolic disorder characterized by abnormal conversion of cholesterol into bile acids which occurs predominantly in the liver.

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, 5, and has symptoms including diarrhea and icterus. An important gene associated with Congenital Bile Acid Synthesis Defect is HSD3B7 (Hydroxy-Delta-5-Steroid Dehydrogenase, 3 Beta- And Steroid Delta-Isomerase 7), and among its related pathways/superpathways are Metabolism and Metabolism of steroids. Affiliated tissues include liver, lung and bone, and related phenotypes are no effect and no effect

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 291)
# Related Disease Score Top Affiliating Genes
1 bile acid synthesis defect, congenital, 2 33.4 HSD3B7 AKR1D1 ABCB11
2 bile acid synthesis defect, congenital, 5 33.1 ABCD4 ABCD3
3 bile acid synthesis defect, congenital, 3 33.0 HSD3B7 GPR183 CYP7B1 AKR1D1
4 bile acid synthesis defect, congenital, 1 12.2
5 bile acid synthesis defect, congenital, 4 12.0
6 bile acid synthesis defect, congenital, 6 11.9
7 cholestasis, progressive familial intrahepatic, 4 11.8
8 age-related hearing loss 10.4
9 sarcoma 10.4
10 cholestasis 10.3
11 myeloid leukemia 10.3
12 leishmaniasis 10.3
13 cytokine deficiency 10.3
14 turner syndrome 10.3
15 malaria 10.2
16 cholestasis-lymphedema syndrome 10.2 HSD3B7 AKR1D1
17 autoimmune disease 10.2
18 aging 10.2
19 leukemia, acute myeloid 10.2
20 sensorineural hearing loss 10.2
21 allergic disease 10.2
22 peripheral retinal degeneration 10.2
23 schistosomiasis 10.2
24 adenoma 10.2
25 retinal degeneration 10.2
26 toxoplasmosis 10.2
27 gastric antral vascular ectasia 10.1
28 amyloidosis 10.1
29 primary agammaglobulinemia 10.1
30 peroxisomal acyl-coa oxidase deficiency 10.1 ACOX2 ABCD3
31 osteogenic sarcoma 10.1
32 lymphoma 10.1
33 plasmodium falciparum malaria 10.1
34 vasculitis 10.1
35 48,xxxy syndrome 10.1
36 48,xxyy syndrome 10.1
37 48,xyyy 10.1
38 splenomegaly 10.1
39 d-bifunctional protein deficiency 10.1 ACOX2 ABCD3
40 dubin-johnson syndrome 10.1
41 non-alcoholic fatty liver disease 10.1
42 obstructive jaundice 10.1
43 bilirubin metabolic disorder 10.1
44 rare metabolic liver disease 10.1
45 neonatal jaundice 10.1 HSD3B7 AMACR
46 photoparoxysmal response 1 10.1
47 hearing loss, noise-induced 10.1
48 leukemia 10.1
49 adenocarcinoma 10.1
50 acute myeloid leukemia with recurrent genetic anomaly 10.1

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

GenomeRNAi Phenotypes related to Congenital Bile Acid Synthesis Defect according to GeneCards Suite gene sharing:

25
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 no effect GR00402-S-1 10.05 ABCB11 ABCD3 ABCD4 ACOX2 ACP4 AKR1D1
2 no effect GR00402-S-2 10.05 ABCB11 ABCD4 ACOX2 ACP4 AMACR CYP7B1

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

Genetic tests related to Congenital Bile Acid Synthesis Defect:

# Genetic test Affiliating Genes
1 Congenital Bile Acid Synthesis Defect 28

Anatomical Context for Congenital Bile Acid Synthesis Defect

Organs/tissues related to Congenital Bile Acid Synthesis Defect:

MalaCards : Liver, Lung, Bone

Publications for Congenital Bile Acid Synthesis Defect

Articles related to Congenital Bile Acid Synthesis Defect:

(show all 34)
# Title Authors PMID Year
1
Congenital Bile Acid Synthesis Defect Type 3 With Severe Neonatal Cholestasis. 62
35580280 2022
2
Characterization of Hot Deformation of near Alpha Titanium Alloy Prepared by TiH2-Based Powder Metallurgy. 62
36079314 2022
3
Clinical and genetic features of congenital bile acid synthesis defect with a novel mutation in AKR1D1 gene sequencing: Case reports. 62
35758383 2022
4
Whole-Genome Sequencing of a Colistin-Resistant Acinetobacter baumannii Strain Isolated at a Tertiary Health Facility in Pretoria, South Africa. 62
35625238 2022
5
Substrate Specificity and the Direction of Transport in the ABC Transporters ABCD1-3 and ABCD4. 62
35908918 2022
6
Bile Acid Synthesis Disorders in Japan: Long-Term Outcome and Chenodeoxycholic Acid Treatment. 62
33385262 2021
7
Peroxisomal ABC Transporters: An Update. 62
34198763 2021
8
Mg alloy surface immobilised with caerin peptides acquires enhanced antibacterial ability and putatively improved corrosion resistance. 62
33579462 2021
9
A Comprehensive Study of the Relationship between the Production of β-Lactamase Enzymes and Iron/Siderophore Uptake Regulatory Genes in Clinical Isolates of Acinetobacter baumannii. 62
33815505 2021
10
In-Depth Analysis of the Role of the Acinetobactin Cluster in the Virulence of Acinetobacter baumannii. 62
34675911 2021
11
Pharmacy Compounded Medicines for Patients With Rare Diseases: Lessons Learned From Chenodeoxycholic Acid and Cholic Acid. 62
34650439 2021
12
[Clinical characteristics and gene variants of patients with infantile intrahepatic cholestasis]. 62
33476544 2021
13
Open-label Phase 3 Continuation Study of Cholic Acid in Patients With Inborn Errors of Bile Acid Synthesis. 62
31899729 2020
14
Bone Density in Children With Chronic Liver Disease Correlates With Growth and Cholestasis. 62
30063078 2019
15
Distribution of virulence-associated genes and antimicrobial susceptibility in clinical Acinetobacter baumannii isolates. 62
29774093 2018
16
Functionalisation of Detonation Nanodiamond for Monodispersed, Soluble DNA-Nanodiamond Conjugates Using Mixed Silane Bead-Assisted Sonication Disintegration. 62
29335424 2018
17
Bile Acid Synthesis Disorders in Arabs: A 10-year Screening Study. 62
28902093 2017
18
Oral Cholic Acid Is Efficacious and Well Tolerated in Patients With Bile Acid Synthesis and Zellweger Spectrum Disorders. 62
28644367 2017
19
[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]. 62
28697823 2017
20
Modeling Acinetobacter baumannii wound infections: The critical role of iron. 62
28030490 2017
21
Functional Characterization of Acinetobacter baumannii Lacking the RNA Chaperone Hfq. 62
29163381 2017
22
Tris(pentafluoroethyl)trifluorophosphate-basd ionic liquids as advantageous solid-phase micro-extraction coatings for the extraction of organophosphate esters in environmental waters. 62
27086567 2016
23
Cytochrome P450s in the synthesis of cholesterol and bile acids--from mouse models to human diseases. 62
22111624 2012
24
Role of acinetobactin-mediated iron acquisition functions in the interaction of Acinetobacter baumannii strain ATCC 19606T with human lung epithelial cells, Galleria mellonella caterpillars, and mice. 62
22232188 2012
25
Identification and characterization of an outer membrane receptor gene in Acinetobacter baumannii required for utilization of desferricoprogen, rhodotorulic acid, and desferrioxamine B as xenosiderophores. 62
22687412 2012
26
A general procedure to functionalize agglomerating nanoparticles demonstrated on nanodiamond. 62
19601635 2009
27
Iron acquisition functions expressed by the human pathogen Acinetobacter baumannii. 62
19130255 2009
28
[Inhibition of porcine circovirus type 2 replication by the plasmid vector expressing siRNAs]. 62
19149167 2008
29
Evaluation of autism traits in Angelman syndrome: a resource to unfold autism genes. 62
17415598 2007
30
Living donor liver transplantation for pediatric patients with inheritable metabolic disorders. 62
16212637 2005
31
Effect of five cysteine-containing compounds on three lipogenic enzymes in Balb/cA mice consuming a high saturated fat diet. 62
15669759 2004
32
Bile acid synthetic defects and liver disease: a comprehensive review. 62
15383928 2004
33
Identification of alternatively spliced mRNA variants related to cancers by genome-wide ESTs alignment. 62
15048092 2004
34
[Relation between end point of activities of daily living and organ failure with bed rest]. 62
10917031 2000

Variations for Congenital Bile Acid Synthesis Defect

ClinVar genetic disease variations for Congenital Bile Acid Synthesis Defect:

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

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 peroxisomal matrix GO:0005782 9.43 AMACR ACOX2 ABCD3
2 peroxisome GO:0005777 9.23 AMACR ACOX2 ABCD4 ABCD3

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

# Name GO ID Score Top Affiliating Genes
1 peroxisome organization GO:0007031 9.76 ABCD4 ABCD3
2 very long-chain fatty acid metabolic process GO:0000038 9.73 ACOX2 ABCD3
3 bile acid metabolic process GO:0008206 9.71 AMACR ABCB11
4 fatty acid beta-oxidation using acyl-CoA oxidase GO:0033540 9.67 AMACR ACOX2
5 B cell chemotaxis GO:0035754 9.62 CYP7B1 HSD3B7
6 very long-chain fatty acid catabolic process GO:0042760 9.56 ABCD3 ABCD4
7 fatty acid beta-oxidation GO:0006635 9.55 ACOX2 ABCD4 ABCD3
8 bile acid biosynthetic process GO:0006699 9.4 HSD3B7 CYP7B1 AMACR AKR1D1 ABCD3 ABCB11
9 long-chain fatty acid import into peroxisome GO:0015910 9.26 ABCD4 ABCD3

Molecular functions related to Congenital Bile Acid Synthesis Defect according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 long-chain fatty acid transporter activity GO:0005324 9.46 ABCD4 ABCD3
2 ATPase-coupled transmembrane transporter activity GO:0042626 9.43 ABCD4 ABCD3 ABCB11
3 ABC-type transporter activity GO:0140359 8.92 ABCD4 ABCD3 ABCB11

Sources for Congenital Bile Acid Synthesis Defect

2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 24-Oct-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
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