MCID: CNG002
MIFTS: 25

Congenital Bile Acid Synthesis Defect

Categories: Metabolic diseases, Liver 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 14
Cholestasis with Delta(4)-3-Oxosteroid-5-Beta-Reductase Deficiency 12
3-Beta-Hydroxy-Delta-5-C27-Steroid Oxidoreductase Deficiency 12
3-Beta-Hydroxy-Delta-5-C27-Steroid Oxidoreductase 13
Bile Acid Synthesis Defect, Congenital, 1 69
Cba 12

Classifications:



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Disease Ontology 12 DOID:0050674
ICD10 33 K76.8

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, 4 and bile acid synthesis defect, congenital, 1, 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 Synthesis of bile acids and bile salts and Steroid hormone biosynthesis. The drugs Alpha 1-Antitrypsin and Bile Acids and Salts have been mentioned in the context of this disorder. Affiliated tissues include liver.

Related Diseases for Congenital Bile Acid Synthesis Defect

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

Drugs for Congenital Bile Acid Synthesis Defect (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):


id Name Status Phase Clinical Trials Cas Number PubChem Id
1 Alpha 1-Antitrypsin
2 Bile Acids and Salts
3 Liver Extracts
4 Protein C Inhibitor

Interventional clinical trials:


id Name Status NCT ID Phase Drugs
1 Evaluating the Genetic Causes and Progression of Cholestatic Liver Diseases (LOGIC) Recruiting NCT00571272

Search 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:

39
Liver

Publications for Congenital Bile Acid Synthesis Defect

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

GO Terms for Congenital Bile Acid Synthesis Defect

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

id 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:

id 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:

id 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
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 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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