MCID: CNG002
MIFTS: 26

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 37 6 15
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 73
Cba 12

Classifications:



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Disease Ontology 12 DOID:0050674
ICD10 33 K76.8
KEGG 37 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 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 Primary bile acid biosynthesis and Steroid hormone biosynthesis. 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

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:

41
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

ClinVar genetic disease variations for Congenital Bile Acid Synthesis Defect:

6
(show top 50) (show all 152)
# Gene Variation Type Significance SNP ID Assembly Location
1 CYP7B1 NM_004820.4(CYP7B1): c.56T> C (p.Leu19Pro) single nucleotide variant Benign/Likely benign rs72554624 GRCh37 Chromosome 8, 65711089: 65711089
2 CYP7B1 NM_004820.4(CYP7B1): c.56T> C (p.Leu19Pro) single nucleotide variant Benign/Likely benign rs72554624 GRCh38 Chromosome 8, 64798532: 64798532
3 CYP7B1 NM_004820.4(CYP7B1): c.204G> A (p.Arg68=) single nucleotide variant Conflicting interpretations of pathogenicity rs377119798 GRCh38 Chromosome 8, 64624458: 64624458
4 CYP7B1 NM_004820.4(CYP7B1): c.204G> A (p.Arg68=) single nucleotide variant Conflicting interpretations of pathogenicity rs377119798 GRCh37 Chromosome 8, 65537015: 65537015
5 AKR1D1 NM_005989.3(AKR1D1): c.856-10G> A single nucleotide variant Likely benign rs17169518 GRCh38 Chromosome 7, 138113680: 138113680
6 AKR1D1 NM_005989.3(AKR1D1): c.856-10G> A single nucleotide variant Likely benign rs17169518 GRCh37 Chromosome 7, 137798426: 137798426
7 AKR1D1 NM_005989.3(AKR1D1): c.*5A> C single nucleotide variant Benign rs1872929 GRCh37 Chromosome 7, 137801413: 137801413
8 AKR1D1 NM_005989.3(AKR1D1): c.*5A> C single nucleotide variant Benign rs1872929 GRCh38 Chromosome 7, 138116667: 138116667
9 CYP7B1 NM_004820.4(CYP7B1): c.260-5dupT duplication Conflicting interpretations of pathogenicity rs780734030 GRCh37 Chromosome 8, 65528843: 65528843
10 CYP7B1 NM_004820.4(CYP7B1): c.260-5dupT duplication Conflicting interpretations of pathogenicity rs780734030 GRCh38 Chromosome 8, 64616286: 64616286
11 CYP7B1 NM_004820.4(CYP7B1): c.125G> A (p.Arg42Lys) single nucleotide variant Uncertain significance rs375384257 GRCh37 Chromosome 8, 65537094: 65537094
12 CYP7B1 NM_004820.4(CYP7B1): c.125G> A (p.Arg42Lys) single nucleotide variant Uncertain significance rs375384257 GRCh38 Chromosome 8, 64624537: 64624537
13 AKR1D1 NM_005989.3(AKR1D1): c.380C> T (p.Pro127Leu) single nucleotide variant Uncertain significance rs140421486 GRCh37 Chromosome 7, 137782613: 137782613
14 AKR1D1 NM_005989.3(AKR1D1): c.380C> T (p.Pro127Leu) single nucleotide variant Uncertain significance rs140421486 GRCh38 Chromosome 7, 138097867: 138097867
15 AKR1D1 NM_005989.3(AKR1D1): c.262-7C> A single nucleotide variant Uncertain significance rs144365681 GRCh37 Chromosome 7, 137776507: 137776507
16 AKR1D1 NM_005989.3(AKR1D1): c.262-7C> A single nucleotide variant Uncertain significance rs144365681 GRCh38 Chromosome 7, 138091761: 138091761
17 AKR1D1 NM_005989.3(AKR1D1): c.*1091C> T single nucleotide variant Uncertain significance rs886062009 GRCh37 Chromosome 7, 137802499: 137802499
18 AKR1D1 NM_005989.3(AKR1D1): c.*1091C> T single nucleotide variant Uncertain significance rs886062009 GRCh38 Chromosome 7, 138117753: 138117753
19 AKR1D1 NM_005989.3(AKR1D1): c.*1139G> C single nucleotide variant Likely benign rs566511122 GRCh37 Chromosome 7, 137802547: 137802547
20 AKR1D1 NM_005989.3(AKR1D1): c.*1139G> C single nucleotide variant Likely benign rs566511122 GRCh38 Chromosome 7, 138117801: 138117801
21 AKR1D1 NM_005989.3(AKR1D1): c.*1151A> G single nucleotide variant Uncertain significance rs548914228 GRCh37 Chromosome 7, 137802559: 137802559
22 AKR1D1 NM_005989.3(AKR1D1): c.*1151A> G single nucleotide variant Uncertain significance rs548914228 GRCh38 Chromosome 7, 138117813: 138117813
23 AKR1D1 NM_005989.3(AKR1D1): c.*1274A> G single nucleotide variant Benign rs11766258 GRCh37 Chromosome 7, 137802682: 137802682
24 AKR1D1 NM_005989.3(AKR1D1): c.*1274A> G single nucleotide variant Benign rs11766258 GRCh38 Chromosome 7, 138117936: 138117936
25 AKR1D1 NM_005989.3(AKR1D1): c.*1363A> G single nucleotide variant Uncertain significance rs2465921 GRCh37 Chromosome 7, 137802771: 137802771
26 AKR1D1 NM_005989.3(AKR1D1): c.*1363A> G single nucleotide variant Uncertain significance rs2465921 GRCh38 Chromosome 7, 138118025: 138118025
27 AKR1D1 NM_005989.3(AKR1D1): c.*1173A> T single nucleotide variant Uncertain significance rs111628978 GRCh37 Chromosome 7, 137802581: 137802581
28 AKR1D1 NM_005989.3(AKR1D1): c.*36C> T single nucleotide variant Benign rs1872930 GRCh37 Chromosome 7, 137801444: 137801444
29 AKR1D1 NM_005989.3(AKR1D1): c.*36C> T single nucleotide variant Benign rs1872930 GRCh38 Chromosome 7, 138116698: 138116698
30 AKR1D1 NM_005989.3(AKR1D1): c.*58G> C single nucleotide variant Uncertain significance rs80147006 GRCh37 Chromosome 7, 137801466: 137801466
31 AKR1D1 NM_005989.3(AKR1D1): c.*58G> C single nucleotide variant Uncertain significance rs80147006 GRCh38 Chromosome 7, 138116720: 138116720
32 AKR1D1 NM_005989.3(AKR1D1): c.*417A> G single nucleotide variant Uncertain significance rs151234162 GRCh37 Chromosome 7, 137801825: 137801825
33 AKR1D1 NM_005989.3(AKR1D1): c.*417A> G single nucleotide variant Uncertain significance rs151234162 GRCh38 Chromosome 7, 138117079: 138117079
34 AKR1D1 NM_005989.3(AKR1D1): c.*507G> A single nucleotide variant Benign rs7780066 GRCh37 Chromosome 7, 137801915: 137801915
35 AKR1D1 NM_005989.3(AKR1D1): c.*507G> A single nucleotide variant Benign rs7780066 GRCh38 Chromosome 7, 138117169: 138117169
36 AKR1D1 NM_005989.3(AKR1D1): c.*1163T> C single nucleotide variant Benign rs11763063 GRCh37 Chromosome 7, 137802571: 137802571
37 AKR1D1 NM_005989.3(AKR1D1): c.*1163T> C single nucleotide variant Benign rs11763063 GRCh38 Chromosome 7, 138117825: 138117825
38 AKR1D1 NM_005989.3(AKR1D1): c.*1173A> T single nucleotide variant Uncertain significance rs111628978 GRCh38 Chromosome 7, 138117835: 138117835
39 AKR1D1 NM_005989.3(AKR1D1): c.*1214A> G single nucleotide variant Uncertain significance rs758246977 GRCh37 Chromosome 7, 137802622: 137802622
40 AKR1D1 NM_005989.3(AKR1D1): c.*1214A> G single nucleotide variant Uncertain significance rs758246977 GRCh38 Chromosome 7, 138117876: 138117876
41 AKR1D1 NM_005989.3(AKR1D1): c.*1282G> A single nucleotide variant Uncertain significance rs534922267 GRCh37 Chromosome 7, 137802690: 137802690
42 AKR1D1 NM_005989.3(AKR1D1): c.*1282G> A single nucleotide variant Uncertain significance rs534922267 GRCh38 Chromosome 7, 138117944: 138117944
43 AKR1D1 NM_005989.3(AKR1D1): c.*1288A> C single nucleotide variant Uncertain significance rs554615032 GRCh37 Chromosome 7, 137802696: 137802696
44 AKR1D1 NM_005989.3(AKR1D1): c.*1288A> C single nucleotide variant Uncertain significance rs554615032 GRCh38 Chromosome 7, 138117950: 138117950
45 AKR1D1 NM_005989.3(AKR1D1): c.*1298A> G single nucleotide variant Uncertain significance rs886062011 GRCh37 Chromosome 7, 137802706: 137802706
46 AKR1D1 NM_005989.3(AKR1D1): c.*1298A> G single nucleotide variant Uncertain significance rs886062011 GRCh38 Chromosome 7, 138117960: 138117960
47 AKR1D1 NM_005989.3(AKR1D1): c.*1311A> C single nucleotide variant Likely benign rs188138947 GRCh37 Chromosome 7, 137802719: 137802719
48 AKR1D1 NM_005989.3(AKR1D1): c.*1311A> C single nucleotide variant Likely benign rs188138947 GRCh38 Chromosome 7, 138117973: 138117973
49 AKR1D1 NM_005989.3(AKR1D1): c.*1484T> C single nucleotide variant Likely benign rs17169523 GRCh38 Chromosome 7, 138118146: 138118146
50 AKR1D1 NM_005989.3(AKR1D1): c.*1484T> C single nucleotide variant Likely benign rs17169523 GRCh37 Chromosome 7, 137802892: 137802892

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:

37
# 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 signaling 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
17 ExPASy
19 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 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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