MCID: CNG002
MIFTS: 27

Congenital Bile Acid Synthesis Defect

Categories: Liver diseases, Metabolic 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 36 14
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 69
Cba 12

Classifications:



External Ids:

Disease Ontology 12 DOID:0050674
ICD10 32 K76.8
KEGG 36 H00628

Summaries for Congenital Bile Acid Synthesis Defect

Disease Ontology : 12 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, 1, and has symptoms including icterus and diarrhea. 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 Primary bile acid biosynthesis and Steroid hormone biosynthesis. Affiliated tissues include liver.

Related Diseases for Congenital Bile Acid Synthesis Defect

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

(show all 45)
# Related Disease Score Top Affiliating Genes
1 bile acid synthesis defect, congenital, 2 12.4
2 bile acid synthesis defect, congenital, 1 12.2
3 bile acid synthesis defect, congenital, 4 12.1
4 bile acid synthesis defect, congenital, 3 12.1
5 bile acid synthesis defect, congenital, 5 12.0
6 bile acid synthesis defect, congenital, 6 12.0
7 alpha-methylacyl-coa racemase deficiency 9.9 AKR1D1 AMACR
8 leukemia, chronic lymphocytic 2 9.8
9 blood group, i system 9.8
10 leukemia, chronic lymphocytic 9.8
11 rheumatoid arthritis 9.8
12 malaria 9.8
13 arthritis 9.8
14 exocrine pancreatic insufficiency 9.8
15 leukemia 9.8
16 cerebritis 9.8
17 pancreatitis 9.8
18 leukemia, b-cell, chronic 9.8
19 fibromuscular dysplasia 9.7
20 hashimoto thyroiditis 9.7
21 schistosoma mansoni infection, susceptibility/ 9.7
22 body mass index quantitative trait locus 11 9.7
23 frontometaphyseal dysplasia 1 9.7
24 body mass index quantitative trait locus 9 9.7
25 body mass index quantitative trait locus 8 9.7
26 body mass index quantitative trait locus 4 9.7
27 body mass index quantitative trait locus 10 9.7
28 body mass index quantitative trait locus 7 9.7
29 alpha/beta t-cell lymphopenia with gamma/delta t-cell expansion, severe cytomegalovirus infection, and autoimmunity 9.7
30 body mass index quantitative trait locus 12 9.7
31 body mass index quantitative trait locus 14 9.7
32 body mass index quantitative trait locus 18 9.7
33 thrombotic thrombocytopenic purpura 9.7
34 sarcoma 9.7
35 trichuriasis 9.7
36 von willebrand's disease 9.7
37 congenital toxoplasmosis 9.7
38 schistosomiasis 9.7
39 purpura 9.7
40 spindle cell sarcoma 9.7
41 thyroiditis 9.7
42 parasitic helminthiasis infectious disease 9.7
43 toxoplasmosis 9.7
44 urethral diverticulum 9.7 AMACR PVR
45 adrenoleukodystrophy 9.5 ABCB6 ABCD3

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:


icterus, diarrhea

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:

38
Liver

Publications for Congenital Bile Acid Synthesis Defect

Articles related to Congenital Bile Acid Synthesis Defect:

# Title Authors Year
1
[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]. ( 28697823 )
2017

Variations for Congenital Bile Acid Synthesis Defect

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 intracellular membrane-bounded organelle GO:0043231 9.46 ABCD3 ACOX2 AMACR CYP7B1
2 peroxisome GO:0005777 9.13 ABCD3 ACOX2 AMACR
3 peroxisomal matrix GO:0005782 8.8 ABCD3 ACOX2 AMACR

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

# Name GO ID Score Top Affiliating Genes
1 oxidation-reduction process GO:0055114 9.56 ACOX2 AKR1D1 CYP7B1 HSD3B7
2 lipid metabolic process GO:0006629 9.54 ACOX2 AKR1D1 CYP7B1
3 steroid metabolic process GO:0008202 9.4 AKR1D1 CYP7B1
4 fatty acid beta-oxidation GO:0006635 9.32 ABCD3 ACOX2
5 fatty acid beta-oxidation using acyl-CoA oxidase GO:0033540 9.16 ACOX2 AMACR
6 bile acid biosynthetic process GO:0006699 9.02 ACOX2 AKR1D1 AMACR CYP7B1 HSD3B7
7 B cell chemotaxis GO:0035754 8.96 CYP7B1 HSD3B7

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

# Name GO ID Score Top Affiliating Genes
1 receptor binding GO:0005102 9.33 ACOX2 AMACR PVR
2 ATPase activity, coupled to transmembrane movement of substances GO:0042626 8.96 ABCB6 ABCD3
3 oxidoreductase activity GO:0016491 8.92 ACOX2 AKR1D1 CYP7B1 HSD3B7

Sources for Congenital Bile Acid Synthesis Defect

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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