MCID: CNG002
MIFTS: 33

Congenital Bile Acid Synthesis Defect

Categories: 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 38 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 74
Cba 12

Classifications:



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Disease Ontology 12 DOID:0050674
KEGG 38 H00628
ICD10 34 K76.8
UMLS 74 C1843116

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, 3 and bile acid synthesis defect, congenital, 2, 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, thyroid and b cells.

Related Diseases for Congenital Bile Acid Synthesis Defect

Diseases in the Congenital Bile Acid Synthesis Defect 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

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

(show top 50) (show all 63)
# Related Disease Score Top Affiliating Genes
1 bile acid synthesis defect, congenital, 3 33.5 AKR1D1 CYP7B1
2 bile acid synthesis defect, congenital, 2 12.6
3 bile acid synthesis defect, congenital, 1 12.4
4 bile acid synthesis defect, congenital, 4 12.2
5 bile acid synthesis defect, congenital, 5 12.2
6 bile acid synthesis defect, congenital, 6 12.2
7 cholestasis, progressive familial intrahepatic, 4 11.9
8 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 10.3
9 radin blood group antigen 10.2
10 thyroiditis 10.1
11 lymphomatous thyroiditis 10.1
12 hearing loss, noise-induced 10.1
13 exocrine pancreatic insufficiency 10.1
14 leukemia, chronic lymphocytic 2 10.0
15 leukemia, chronic lymphocytic 10.0
16 rheumatoid arthritis 10.0
17 diamond-blackfan anemia 2 10.0
18 malaria 10.0
19 arthritis 10.0
20 leukemia 10.0
21 lymphocytic leukemia 10.0
22 arteriosclerosis 10.0
23 peritonitis 10.0
24 toxoplasmosis 10.0
25 cytokine deficiency 10.0
26 homologous wasting disease 10.0
27 leukemia, b-cell, chronic 10.0
28 age-related hearing loss 10.0
29 alpha-methylacyl-coa racemase deficiency 10.0 AKR1D1 AMACR
30 autoimmune disease 9.8
31 colorectal cancer 9.8
32 diabetes mellitus, noninsulin-dependent 9.8
33 fibromuscular dysplasia 9.8
34 celiac disease 1 9.8
35 aging 9.8
36 horns in sheep 9.8
37 intervertebral disc disease 9.8
38 headache associated with sexual activity 9.8
39 cutaneous leishmaniasis 9.8
40 hemolytic anemia 9.8
41 spinal muscular atrophy 9.8
42 thrombotic thrombocytopenic purpura 9.8
43 sarcoma 9.8
44 cryptococcosis 9.8
45 chagas disease 9.8
46 lymphocytic choriomeningitis 9.8
47 pancytopenia 9.8
48 trichuriasis 9.8
49 carotid stenosis 9.8
50 congenital toxoplasmosis 9.8

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:

42
Liver, Thyroid, B Cells

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 154)
# Gene Variation Type Significance SNP ID Assembly Location
1 CYP7B1 NM_004820.4(CYP7B1): c.1456C> T (p.Arg486Cys) single nucleotide variant Conflicting interpretations of pathogenicity rs116171274 GRCh37 Chromosome 8, 65509264: 65509264
2 CYP7B1 NM_004820.4(CYP7B1): c.1456C> T (p.Arg486Cys) single nucleotide variant Conflicting interpretations of pathogenicity rs116171274 GRCh38 Chromosome 8, 64596707: 64596707
3 CYP7B1 NM_004820.4(CYP7B1): c.56T> C (p.Leu19Pro) single nucleotide variant Benign/Likely benign rs72554624 GRCh37 Chromosome 8, 65711089: 65711089
4 CYP7B1 NM_004820.4(CYP7B1): c.56T> C (p.Leu19Pro) single nucleotide variant Benign/Likely benign rs72554624 GRCh38 Chromosome 8, 64798532: 64798532
5 CYP7B1 NM_004820.4(CYP7B1): c.204G> A (p.Arg68=) single nucleotide variant Conflicting interpretations of pathogenicity rs377119798 GRCh38 Chromosome 8, 64624458: 64624458
6 CYP7B1 NM_004820.4(CYP7B1): c.204G> A (p.Arg68=) single nucleotide variant Conflicting interpretations of pathogenicity rs377119798 GRCh37 Chromosome 8, 65537015: 65537015
7 AKR1D1 NM_005989.3(AKR1D1): c.856-10G> A single nucleotide variant Benign/Likely benign rs17169518 GRCh38 Chromosome 7, 138113680: 138113680
8 AKR1D1 NM_005989.3(AKR1D1): c.856-10G> A single nucleotide variant Benign/Likely benign rs17169518 GRCh37 Chromosome 7, 137798426: 137798426
9 AKR1D1 NM_005989.3(AKR1D1): c.*5A> C single nucleotide variant Benign rs1872929 GRCh37 Chromosome 7, 137801413: 137801413
10 AKR1D1 NM_005989.3(AKR1D1): c.*5A> C single nucleotide variant Benign rs1872929 GRCh38 Chromosome 7, 138116667: 138116667
11 CYP7B1 NM_004820.4(CYP7B1): c.260-5dupT duplication Conflicting interpretations of pathogenicity rs8192896 GRCh37 Chromosome 8, 65528843: 65528843
12 CYP7B1 NM_004820.4(CYP7B1): c.260-5dupT duplication Conflicting interpretations of pathogenicity rs8192896 GRCh38 Chromosome 8, 64616286: 64616286
13 CYP7B1 NM_004820.4(CYP7B1): c.125G> A (p.Arg42Lys) single nucleotide variant Uncertain significance rs375384257 GRCh37 Chromosome 8, 65537094: 65537094
14 CYP7B1 NM_004820.4(CYP7B1): c.125G> A (p.Arg42Lys) single nucleotide variant Uncertain significance rs375384257 GRCh38 Chromosome 8, 64624537: 64624537
15 AKR1D1 NM_005989.3(AKR1D1): c.380C> T (p.Pro127Leu) single nucleotide variant Uncertain significance rs140421486 GRCh37 Chromosome 7, 137782613: 137782613
16 AKR1D1 NM_005989.3(AKR1D1): c.380C> T (p.Pro127Leu) single nucleotide variant Uncertain significance rs140421486 GRCh38 Chromosome 7, 138097867: 138097867
17 AKR1D1 NM_005989.3(AKR1D1): c.*1274A> G single nucleotide variant Benign rs11766258 GRCh38 Chromosome 7, 138117936: 138117936
18 AKR1D1 NM_005989.3(AKR1D1): c.*1363A> G single nucleotide variant Uncertain significance rs2465921 GRCh37 Chromosome 7, 137802771: 137802771
19 AKR1D1 NM_005989.3(AKR1D1): c.*1363A> G single nucleotide variant Uncertain significance rs2465921 GRCh38 Chromosome 7, 138118025: 138118025
20 AKR1D1 NM_005989.3(AKR1D1): c.262-7C> A single nucleotide variant Conflicting interpretations of pathogenicity rs144365681 GRCh37 Chromosome 7, 137776507: 137776507
21 AKR1D1 NM_005989.3(AKR1D1): c.262-7C> A single nucleotide variant Conflicting interpretations of pathogenicity rs144365681 GRCh38 Chromosome 7, 138091761: 138091761
22 AKR1D1 NM_005989.3(AKR1D1): c.*1091C> T single nucleotide variant Uncertain significance rs886062009 GRCh37 Chromosome 7, 137802499: 137802499
23 AKR1D1 NM_005989.3(AKR1D1): c.*1091C> T single nucleotide variant Uncertain significance rs886062009 GRCh38 Chromosome 7, 138117753: 138117753
24 AKR1D1 NM_005989.3(AKR1D1): c.*1139G> C single nucleotide variant Likely benign rs566511122 GRCh37 Chromosome 7, 137802547: 137802547
25 AKR1D1 NM_005989.3(AKR1D1): c.*1139G> C single nucleotide variant Likely benign rs566511122 GRCh38 Chromosome 7, 138117801: 138117801
26 AKR1D1 NM_005989.3(AKR1D1): c.*1151A> G single nucleotide variant Uncertain significance rs548914228 GRCh37 Chromosome 7, 137802559: 137802559
27 AKR1D1 NM_005989.3(AKR1D1): c.*1151A> G single nucleotide variant Uncertain significance rs548914228 GRCh38 Chromosome 7, 138117813: 138117813
28 AKR1D1 NM_005989.3(AKR1D1): c.*1274A> G single nucleotide variant Benign rs11766258 GRCh37 Chromosome 7, 137802682: 137802682
29 AKR1D1 NM_005989.3(AKR1D1): c.*36C> T single nucleotide variant Benign rs1872930 GRCh37 Chromosome 7, 137801444: 137801444
30 AKR1D1 NM_005989.3(AKR1D1): c.*36C> T single nucleotide variant Benign rs1872930 GRCh38 Chromosome 7, 138116698: 138116698
31 AKR1D1 NM_005989.3(AKR1D1): c.*58G> C single nucleotide variant Uncertain significance rs80147006 GRCh37 Chromosome 7, 137801466: 137801466
32 AKR1D1 NM_005989.3(AKR1D1): c.*58G> C single nucleotide variant Uncertain significance rs80147006 GRCh38 Chromosome 7, 138116720: 138116720
33 AKR1D1 NM_005989.3(AKR1D1): c.*417A> G single nucleotide variant Uncertain significance rs151234162 GRCh37 Chromosome 7, 137801825: 137801825
34 AKR1D1 NM_005989.3(AKR1D1): c.*417A> G single nucleotide variant Uncertain significance rs151234162 GRCh38 Chromosome 7, 138117079: 138117079
35 AKR1D1 NM_005989.3(AKR1D1): c.*507G> A single nucleotide variant Benign rs7780066 GRCh37 Chromosome 7, 137801915: 137801915
36 AKR1D1 NM_005989.3(AKR1D1): c.*507G> A single nucleotide variant Benign rs7780066 GRCh38 Chromosome 7, 138117169: 138117169
37 AKR1D1 NM_005989.3(AKR1D1): c.*1163T> C single nucleotide variant Benign rs11763063 GRCh37 Chromosome 7, 137802571: 137802571
38 AKR1D1 NM_005989.3(AKR1D1): c.*1163T> C single nucleotide variant Benign rs11763063 GRCh38 Chromosome 7, 138117825: 138117825
39 AKR1D1 NM_005989.3(AKR1D1): c.*1173A> T single nucleotide variant Uncertain significance rs111628978 GRCh37 Chromosome 7, 137802581: 137802581
40 AKR1D1 NM_005989.3(AKR1D1): c.*1173A> T single nucleotide variant Uncertain significance rs111628978 GRCh38 Chromosome 7, 138117835: 138117835
41 AKR1D1 NM_005989.3(AKR1D1): c.*1214A> G single nucleotide variant Uncertain significance rs758246977 GRCh37 Chromosome 7, 137802622: 137802622
42 AKR1D1 NM_005989.3(AKR1D1): c.*1214A> G single nucleotide variant Uncertain significance rs758246977 GRCh38 Chromosome 7, 138117876: 138117876
43 AKR1D1 NM_005989.3(AKR1D1): c.*1282G> A single nucleotide variant Uncertain significance rs534922267 GRCh37 Chromosome 7, 137802690: 137802690
44 AKR1D1 NM_005989.3(AKR1D1): c.*1282G> A single nucleotide variant Uncertain significance rs534922267 GRCh38 Chromosome 7, 138117944: 138117944
45 AKR1D1 NM_005989.3(AKR1D1): c.*1288A> C single nucleotide variant Uncertain significance rs554615032 GRCh37 Chromosome 7, 137802696: 137802696
46 AKR1D1 NM_005989.3(AKR1D1): c.*1288A> C single nucleotide variant Uncertain significance rs554615032 GRCh38 Chromosome 7, 138117950: 138117950
47 AKR1D1 NM_005989.3(AKR1D1): c.*1298A> G single nucleotide variant Uncertain significance rs886062011 GRCh37 Chromosome 7, 137802706: 137802706
48 AKR1D1 NM_005989.3(AKR1D1): c.*1298A> G single nucleotide variant Uncertain significance rs886062011 GRCh38 Chromosome 7, 138117960: 138117960
49 AKR1D1 NM_005989.3(AKR1D1): c.*1311A> C single nucleotide variant Likely benign rs188138947 GRCh37 Chromosome 7, 137802719: 137802719
50 AKR1D1 NM_005989.3(AKR1D1): c.*1311A> C single nucleotide variant Likely benign rs188138947 GRCh38 Chromosome 7, 138117973: 138117973

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:

38
# 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 endoplasmic reticulum membrane GO:0005789 9.56 ABCB6 CYP39A1 CYP7B1 HSD3B7
2 intracellular membrane-bounded organelle GO:0043231 9.35 ABCD3 ACOX2 AMACR CYP39A1 CYP7B1
3 peroxisome GO:0005777 9.33 ABCD3 ACOX2 AMACR
4 organelle membrane GO:0031090 9.32 CYP39A1 CYP7B1
5 peroxisomal matrix GO:0005782 8.8 ABCD3 ACOX2 AMACR

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

(show all 13)
# Name GO ID Score Top Affiliating Genes
1 lipid metabolic process GO:0006629 9.73 ACOX2 AKR1D1 CYP39A1 CYP7B1
2 oxidation-reduction process GO:0055114 9.72 ACOX2 AKR1D1 CYP39A1 CYP7B1 HSD3B7
3 steroid metabolic process GO:0008202 9.54 AKR1D1 CYP39A1 CYP7B1
4 cholesterol homeostasis GO:0042632 9.52 CYP39A1 CYP7B1
5 protein targeting to peroxisome GO:0006625 9.51 ACOX2 AMACR
6 fatty acid beta-oxidation GO:0006635 9.49 ABCD3 ACOX2
7 digestion GO:0007586 9.48 AKR1D1 CYP39A1
8 sterol metabolic process GO:0016125 9.46 CYP39A1 CYP7B1
9 fatty acid beta-oxidation using acyl-CoA oxidase GO:0033540 9.4 ACOX2 AMACR
10 B cell chemotaxis GO:0035754 9.26 CYP7B1 HSD3B7
11 bile acid catabolic process GO:0030573 9.16 AKR1D1 CYP39A1
12 cholesterol catabolic process GO:0006707 9.13 AKR1D1 CYP39A1 HSD3B7
13 bile acid biosynthetic process GO:0006699 9.1 ACOX2 AKR1D1 AMACR CYP39A1 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 oxidoreductase activity GO:0016491 9.35 ACOX2 AKR1D1 CYP39A1 CYP7B1 HSD3B7
2 heme binding GO:0020037 9.33 ABCB6 CYP39A1 CYP7B1
3 oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen GO:0016705 9.32 CYP39A1 CYP7B1
4 ATPase activity, coupled to transmembrane movement of substances GO:0042626 9.26 ABCB6 ABCD3
5 oxysterol 7-alpha-hydroxylase activity GO:0008396 8.62 CYP39A1 CYP7B1

Sources for Congenital Bile Acid Synthesis Defect

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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