Congenital Bile Acid Synthesis Defect disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

MCID: CNG002 MIFTS: 26	Congenital Bile Acid Synthesis Defect Categories: Metabolic diseases, Liver diseases
Genes Variations Tissues Related diseases Publications Pathways Symptoms & Phenotypes Download Expand all tables

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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 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:

MalaCards categories:
Global: Metabolic diseases
Anatomical: Liver diseases

See all MalaCards categories (disease lists)

ICD10: ³³

Diseases of the digestive system

Diseases of liver

Other diseases of liver

Other specified diseases of liver

External Ids:

Disease Ontology ¹² DOID:0050674

ICD10 ³³ K76.8

KEGG ³⁷ H00628

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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.

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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 36)

#	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	12.0
4	bile acid synthesis defect, congenital, 3	12.0
5	bile acid synthesis defect, congenital, 5	12.0
6	bile acid synthesis defect, congenital, 6	12.0
7	alpha-methylacyl-coa racemase deficiency	10.0	AKR1D1 AMACR
8	leukemia, chronic lymphocytic 2	9.9
9	leukemia, chronic lymphocytic	9.9
10	rheumatoid arthritis	9.9
11	malaria	9.9
12	arthritis	9.9
13	exocrine pancreatic insufficiency	9.9
14	leukemia	9.9
15	cerebritis	9.9
16	pancreatitis	9.9
17	leukemia, b-cell, chronic	9.9
18	autoimmune disease	9.7
19	diabetes mellitus, noninsulin-dependent	9.7
20	fibromuscular dysplasia	9.7
21	autoimmune disease 1	9.7
22	alpha/beta t-cell lymphopenia with gamma/delta t-cell expansion, severe cytomegalovirus infection, and autoimmunity	9.7
23	thrombotic thrombocytopenic purpura	9.7
24	sarcoma	9.7
25	trichuriasis	9.7
26	von willebrand's disease	9.7
27	congenital toxoplasmosis	9.7
28	schistosomiasis	9.7
29	purpura	9.7
30	spindle cell sarcoma	9.7
31	thyroiditis	9.7
32	parasitic helminthiasis infectious disease	9.7
33	toxoplasmosis	9.7
34	hyperacusis	9.7
35	urethral diverticulum	9.3	AMACR PVR
36	adrenoleukodystrophy	9.2	ABCB6 ABCD3

Graphical network of the top 20 diseases related to Congenital Bile Acid Synthesis Defect:

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Symptoms & Phenotypes for Congenital Bile Acid Synthesis Defect

UMLS symptoms related to Congenital Bile Acid Synthesis Defect:

diarrhea, icterus

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Drugs & Therapeutics for Congenital Bile Acid Synthesis Defect

Search Clinical Trials , NIH Clinical Center for Congenital Bile Acid Synthesis Defect

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Genetic Tests for Congenital Bile Acid Synthesis Defect

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Anatomical Context for Congenital Bile Acid Synthesis Defect

MalaCards organs/tissues related to Congenital Bile Acid Synthesis Defect:

⁴¹

Liver

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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 )	Cheng Y....Song Y.Z.	2017

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Genes for Congenital Bile Acid Synthesis Defect

Genes related to Congenital Bile Acid Synthesis Defect (0 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence
1	HSD3B7	Hydroxy-Delta-5-Steroid Dehydrogenase, 3 Beta- And Steroid Delta-Isomerase 7	Protein Coding	43.87	DISEASES inferred ¹⁵ GeneCards inferred via : Disorders Summaries Variants (show sections)
2	AKR1D1	Aldo-Keto Reductase Family 1 Member D1	Protein Coding	41.13	GeneCards inferred via : Disorders Publications Variants (show sections)
3	CYP7B1	Cytochrome P450 Family 7 Subfamily B Member 1	Protein Coding	34.9	DISEASES inferred ¹⁵ GeneCards inferred via : Disorders Variants (show sections)
4	AMACR	Alpha-Methylacyl-CoA Racemase	Protein Coding	28.41	GeneCards inferred via : Disorders Variants (show sections)
5	ACOX2	Acyl-CoA Oxidase 2	Protein Coding	28.09	GeneCards inferred via : Disorders Variants (show sections)
6	ABCD3	ATP Binding Cassette Subfamily D Member 3	Protein Coding	18.51	GeneCards inferred via : Disorders (show sections)
7	PVR	Poliovirus Receptor	Protein Coding	16.3	DISEASES inferred ¹⁵ GeneCards inferred via : DISEASES inferred (show sections)
8	ABCB6	ATP Binding Cassette Subfamily B Member 6 (Langereis Blood Group)	Protein Coding	16.01	DISEASES inferred ¹⁵ GeneCards inferred via : DISEASES inferred (show sections)

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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

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Expression for Congenital Bile Acid Synthesis Defect

Search GEO for disease gene expression data for Congenital Bile Acid Synthesis Defect.

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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

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

#	Super pathways	Score	Top Affiliating Genes
1	Synthesis of bile acids and bile salts ⁶⁶ Show member pathways Bile acid and bile salt metabolism ⁶⁶ bile acid biosynthesis, neutral pathway ¹ Primary bile acid biosynthesis ³⁷ Recycling of bile acids and salts ⁶⁶ Synthesis of bile acids and bile salts via 24-hydroxycholesterol ⁶⁶ Synthesis of bile acids and bile salts via 27-hydroxycholesterol ⁶⁶ Synthesis of bile acids and bile salts via 7alpha-hydroxycholesterol ⁶⁶	11.26	ACOX2 AKR1D1 AMACR CYP7B1 HSD3B7
2	Steroid hormone biosynthesis ³⁷ Show member pathways allopregnanolone biosynthesis ¹	11.07	AKR1D1 CYP7B1
3	Peroxisome ³⁷	11.05	ABCD3 ACOX2 AMACR
4	Peroxisomal lipid metabolism ⁶⁶ Show member pathways Alpha-oxidation of phytanate ⁶⁶ Beta-oxidation of pristanoyl-CoA ⁶⁶ Beta-oxidation of very long chain fatty acids ⁶⁶ fatty acid alpha-oxidation ¹	10.88	ACOX2 AMACR

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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

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Sources for Congenital Bile Acid Synthesis Defect

¹ BioSystems

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¹⁰ dbSNP

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²³ GeneHancer via GeneCards

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²⁶ GenomeRNAi

²⁷ GEO DataSets

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⁵⁵ Novoseek

⁵⁶ Novus Biologicals

⁵⁷ OMIM

⁵⁸ OMIM via Orphanet

⁵⁹ Orphanet

⁶⁰ PathCards

⁶¹ PharmGKB

⁶² PubMed

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⁶⁴ QIAGEN

⁶⁵ R&D Systems

⁶⁶ Reactome

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⁶⁸ SNOMED-CT

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⁷¹ TGDB

⁷² Tocris

⁷³ UMLS

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⁷⁵ UniProtKB/Swiss-Prot

⁷⁶ Wikipedia