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

Disease Ontology: ¹¹ 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, 5, 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 Metabolism and Metabolism of steroids. Affiliated tissues include liver, lung and bone, and related phenotypes are no effect and no effect

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Related Diseases for Congenital Bile Acid Synthesis Defect

Diseases in the Disorder of Bile Acid Synthesis 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
Congenital Bile Acid Synthesis Defect

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

(show top 50) (show all 291)

#	Related Disease	Score	Top Affiliating Genes
1	bile acid synthesis defect, congenital, 2	33.4	HSD3B7 AKR1D1 ABCB11
2	bile acid synthesis defect, congenital, 5	33.1	ABCD4 ABCD3
3	bile acid synthesis defect, congenital, 3	33.0	HSD3B7 GPR183 CYP7B1 AKR1D1
4	bile acid synthesis defect, congenital, 1	12.2
5	bile acid synthesis defect, congenital, 4	12.0
6	bile acid synthesis defect, congenital, 6	11.9
7	cholestasis, progressive familial intrahepatic, 4	11.8
8	age-related hearing loss	10.4
9	sarcoma	10.4
10	cholestasis	10.3
11	myeloid leukemia	10.3
12	leishmaniasis	10.3
13	cytokine deficiency	10.3
14	turner syndrome	10.3
15	malaria	10.2
16	cholestasis-lymphedema syndrome	10.2	HSD3B7 AKR1D1
17	autoimmune disease	10.2
18	aging	10.2
19	leukemia, acute myeloid	10.2
20	sensorineural hearing loss	10.2
21	allergic disease	10.2
22	peripheral retinal degeneration	10.2
23	schistosomiasis	10.2
24	adenoma	10.2
25	retinal degeneration	10.2
26	toxoplasmosis	10.2
27	gastric antral vascular ectasia	10.1
28	amyloidosis	10.1
29	primary agammaglobulinemia	10.1
30	peroxisomal acyl-coa oxidase deficiency	10.1	ACOX2 ABCD3
31	osteogenic sarcoma	10.1
32	lymphoma	10.1
33	plasmodium falciparum malaria	10.1
34	vasculitis	10.1
35	48,xxxy syndrome	10.1
36	48,xxyy syndrome	10.1
37	48,xyyy	10.1
38	splenomegaly	10.1
39	d-bifunctional protein deficiency	10.1	ACOX2 ABCD3
40	dubin-johnson syndrome	10.1
41	non-alcoholic fatty liver disease	10.1
42	obstructive jaundice	10.1
43	bilirubin metabolic disorder	10.1
44	rare metabolic liver disease	10.1
45	neonatal jaundice	10.1	HSD3B7 AMACR
46	photoparoxysmal response 1	10.1
47	hearing loss, noise-induced	10.1
48	leukemia	10.1
49	adenocarcinoma	10.1
50	acute myeloid leukemia with recurrent genetic anomaly	10.1

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

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

²⁵

#	Description	GenomeRNAi Source Accession	Score	Top Affiliating Genes
1	no effect	GR00402-S-1	10.05	ABCB11 ABCD3 ABCD4 ACOX2 ACP4 AKR1D1
2	no effect	GR00402-S-2	10.05	ABCB11 ABCD4 ACOX2 ACP4 AMACR CYP7B1

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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

Genetic tests related to Congenital Bile Acid Synthesis Defect:

#	Genetic test	Affiliating Genes
1	Congenital Bile Acid Synthesis Defect ²⁸

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Anatomical Context for Congenital Bile Acid Synthesis Defect

Organs/tissues related to Congenital Bile Acid Synthesis Defect:

MalaCards : Liver, Lung, Bone

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Publications for Congenital Bile Acid Synthesis Defect

Articles related to Congenital Bile Acid Synthesis Defect:

(show all 34)

#	Title	Authors	PMID	Year
1	Congenital Bile Acid Synthesis Defect Type 3 With Severe Neonatal Cholestasis. ⁶²	Vij M...Shah VS	35580280	2022
2	Characterization of Hot Deformation of near Alpha Titanium Alloy Prepared by TiH2-Based Powder Metallurgy. ⁶²	Piao R...Hu B	36079314	2022
3	Clinical and genetic features of congenital bile acid synthesis defect with a novel mutation in AKR1D1 gene sequencing: Case reports. ⁶²	Pham AN...Tran MD	35758383	2022
4	Whole-Genome Sequencing of a Colistin-Resistant Acinetobacter baumannii Strain Isolated at a Tertiary Health Facility in Pretoria, South Africa. ⁶²	Nogbou ND...Musyoki AM	35625238	2022
5	Substrate Specificity and the Direction of Transport in the ABC Transporters ABCD1-3 and ABCD4. ⁶²	Kawaguchi K...Imanaka T	35908918	2022
6	Bile Acid Synthesis Disorders in Japan: Long-Term Outcome and Chenodeoxycholic Acid Treatment. ⁶²	Kimura A...Nittono H	33385262	2021
7	Peroxisomal ABC Transporters: An Update. ⁶²	Tawbeh A...Savary S	34198763	2021
8	Mg alloy surface immobilised with caerin peptides acquires enhanced antibacterial ability and putatively improved corrosion resistance. ⁶²	Wang T...Li H	33579462	2021
9	A Comprehensive Study of the Relationship between the Production of β-Lactamase Enzymes and Iron/Siderophore Uptake Regulatory Genes in Clinical Isolates of Acinetobacter baumannii. ⁶²	Porbaran M...Arabestani M	33815505	2021
10	In-Depth Analysis of the Role of the Acinetobactin Cluster in the Virulence of Acinetobacter baumannii. ⁶²	Conde-Perez K...Poza M	34675911	2021
11	Pharmacy Compounded Medicines for Patients With Rare Diseases: Lessons Learned From Chenodeoxycholic Acid and Cholic Acid. ⁶²	Polak Y...Kemper EM	34650439	2021
12	[Clinical characteristics and gene variants of patients with infantile intrahepatic cholestasis]. ⁶²	Wang MJ...Jin M	33476544	2021
13	Open-label Phase 3 Continuation Study of Cholic Acid in Patients With Inborn Errors of Bile Acid Synthesis. ⁶²	Heubi JE...Setchell KDR	31899729	2020
14	Bone Density in Children With Chronic Liver Disease Correlates With Growth and Cholestasis. ⁶²	Loomes KM...Childhood Liver Disease Research Network	30063078	2019
15	Distribution of virulence-associated genes and antimicrobial susceptibility in clinical Acinetobacter baumannii isolates. ⁶²	Liu C...Jia X	29774093	2018
16	Functionalisation of Detonation Nanodiamond for Monodispersed, Soluble DNA-Nanodiamond Conjugates Using Mixed Silane Bead-Assisted Sonication Disintegration. ⁶²	Edgington R...Schaefer AT	29335424	2018
17	Bile Acid Synthesis Disorders in Arabs: A 10-year Screening Study. ⁶²	Al-Hussaini AA...Jacquemin E	28902093	2017
18	Oral Cholic Acid Is Efficacious and Well Tolerated in Patients With Bile Acid Synthesis and Zellweger Spectrum Disorders. ⁶²	Heubi JE...Setchell KDR	28644367	2017
19	[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]. ⁶²	Cheng Y...Song YZ	28697823	2017
20	Modeling Acinetobacter baumannii wound infections: The critical role of iron. ⁶²	Fleming ID...Alverdy JC	28030490	2017
21	Functional Characterization of Acinetobacter baumannii Lacking the RNA Chaperone Hfq. ⁶²	Kuo HY...Liou ML	29163381	2017
22	Tris(pentafluoroethyl)trifluorophosphate-basd ionic liquids as advantageous solid-phase micro-extraction coatings for the extraction of organophosphate esters in environmental waters. ⁶²	Shi F...Liu R	27086567	2016
23	Cytochrome P450s in the synthesis of cholesterol and bile acids--from mouse models to human diseases. ⁶²	Lorbek G...Rozman D	22111624	2012
24	Role of acinetobactin-mediated iron acquisition functions in the interaction of Acinetobacter baumannii strain ATCC 19606T with human lung epithelial cells, Galleria mellonella caterpillars, and mice. ⁶²	Gaddy JA...Actis LA	22232188	2012
25	Identification and characterization of an outer membrane receptor gene in Acinetobacter baumannii required for utilization of desferricoprogen, rhodotorulic acid, and desferrioxamine B as xenosiderophores. ⁶²	Funahashi T...Yamamoto S	22687412	2012
26	A general procedure to functionalize agglomerating nanoparticles demonstrated on nanodiamond. ⁶²	Liang Y...Krueger A	19601635	2009
27	Iron acquisition functions expressed by the human pathogen Acinetobacter baumannii. ⁶²	Zimbler DL...Actis LA	19130255	2009
28	[Inhibition of porcine circovirus type 2 replication by the plasmid vector expressing siRNAs]. ⁶²	Wang H...Liu X	19149167	2008
29	Evaluation of autism traits in Angelman syndrome: a resource to unfold autism genes. ⁶²	Bonati MT...Larizza L	17415598	2007
30	Living donor liver transplantation for pediatric patients with inheritable metabolic disorders. ⁶²	Morioka D...Tanaka K	16212637	2005
31	Effect of five cysteine-containing compounds on three lipogenic enzymes in Balb/cA mice consuming a high saturated fat diet. ⁶²	Lin CC...Lin MP	15669759	2004
32	Bile acid synthetic defects and liver disease: a comprehensive review. ⁶²	Bove KE...Setchell KD	15383928	2004
33	Identification of alternatively spliced mRNA variants related to cancers by genome-wide ESTs alignment. ⁶²	Hui L...Hu G	15048092	2004
34	[Relation between end point of activities of daily living and organ failure with bed rest]. ⁶²	Mori M	10917031	2000

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Genes for Congenital Bile Acid Synthesis Defect

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

(show all 16)

- 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	25.91	DISEASES inferred ¹⁴ GeneCards inferred via : Disorders Summaries (show sections)
2	AKR1D1	Aldo-Keto Reductase Family 1 Member D1	Protein Coding	25.17	DISEASES inferred ¹⁴ GeneCards inferred via : Disorders Publications (show sections)
3	CYP7B1	Cytochrome P450 Family 7 Subfamily B Member 1	Protein Coding	15.39	DISEASES inferred ¹⁴ GeneCards inferred via : Disorders (show sections)
4	ACOX2	Acyl-CoA Oxidase 2	Protein Coding	13.89	DISEASES inferred ¹⁴ GeneCards inferred via : Disorders (show sections)
5	ABCD3	ATP Binding Cassette Subfamily D Member 3	Protein Coding	13.65	DISEASES inferred ¹⁴ GeneCards inferred via : Disorders (show sections)
6	AMACR	Alpha-Methylacyl-CoA Racemase	Protein Coding	12.18	DISEASES inferred ¹⁴ GeneCards inferred via : Disorders (show sections)
7	ABCD4	ATP Binding Cassette Subfamily D Member 4	Protein Coding	6.1	DISEASES inferred ¹⁴
8	GPR183	G Protein-Coupled Receptor 183	Protein Coding	5.49	DISEASES inferred ¹⁴
9	FBXO3	F-Box Protein 3	Protein Coding	5.46	DISEASES inferred ¹⁴
10	ABCB11	ATP Binding Cassette Subfamily B Member 11	Protein Coding	5.26	DISEASES inferred ¹⁴
11	RPS19	Ribosomal Protein S19	Protein Coding	5.25	DISEASES inferred ¹⁴
12	ACP4	Acid Phosphatase 4	Protein Coding	5.21	DISEASES inferred ¹⁴
13	BLNK	B Cell Linker	Protein Coding	5.2	DISEASES inferred ¹⁴
14	KCNV1	Potassium Voltage-Gated Channel Modifier Subfamily V Member 1	Protein Coding	5.2	DISEASES inferred ¹⁴
15	RXFP4	Relaxin Family Peptide/INSL5 Receptor 4	Protein Coding	5.19	DISEASES inferred ¹⁴
16	H4C7	H4 Clustered Histone 7	Protein Coding	5.13	DISEASES inferred ¹⁴

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Variations for Congenital Bile Acid Synthesis Defect

ClinVar genetic disease variations for Congenital Bile Acid Synthesis Defect:

IMPROVED

⁵

#	Gene	Name	Type	Significance	ClinVarId	dbSNP ID	Position
1	CYP7B1	NM_004820.5(CYP7B1):c.1310G>A (p.Cys437Tyr)	SNV	Uncertain Significance	363579	rs886063072	GRCh37: 8:65509410-65509410 GRCh38: 8:64596853-64596853
2	AKR1D1	NM_005989.4(AKR1D1):c.*1372dup	DUP	Uncertain Significance	358995	rs199524592	GRCh37: 7:137802770-137802771 GRCh38: 7:138118024-138118025
3	CYP7B1	NM_004820.5(CYP7B1):c.957T>C (p.Arg319=)	SNV	Uncertain Significance	363583	rs886063073	GRCh37: 8:65527683-65527683 GRCh38: 8:64615126-64615126
4	CYP7B1	NM_004820.5(CYP7B1):c.1323G>A (p.Pro441=)	SNV	Uncertain Significance	363578	rs201281307	GRCh37: 8:65509397-65509397 GRCh38: 8:64596840-64596840
5	CYP7B1	NM_004820.5(CYP7B1):c.123-19dup	DUP	Uncertain Significance	363589	rs8192895	GRCh37: 8:65537104-65537105 GRCh38: 8:64624547-64624548
6	CYP7B1	NM_004820.5(CYP7B1):c.260-15dup	DUP	Uncertain Significance	281577	rs8192896	GRCh37: 8:65528842-65528843 GRCh38: 8:64616285-64616286

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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 GeneCards Suite gene sharing:

#	Super pathways	Score	Top Affiliating Genes
1	Metabolism ⁶⁶ Show member pathways Metabolism of lipids ⁶⁶	13.32	RPS19 HSD3B7 CYP7B1 AMACR AKR1D1 ACOX2
2	Metabolism of steroids ⁶⁶ Show member pathways Activation of gene expression by SREBF (SREBP) ⁶⁶ allopregnanolone biosynthesis ⁶¹ androgen biosynthesis ⁶¹ Cholesterol synthesis disorders ⁷⁴ Defective CYP17A1 causes AH5 ⁶⁶ Regulation of cholesterol biosynthesis by SREBP (SREBF) ⁶⁶ Sterol regulatory element-binding proteins (SREBP) signaling ⁷⁴ Vitamin D (calciferol) metabolism ⁶⁶	11.99	HSD3B7 CYP7B1 AMACR AKR1D1 ACOX2 ABCB11
3	Synthesis of bile acids and bile salts ⁶⁶ Show member pathways "Defective ABCB4 causes PFIC3, ICP3 and GBD1" ⁶⁶ Bile acid and bile salt metabolism ⁶⁶ Defective CYP7B1 causes SPG5A and CBAS3 ⁶⁶ Disorders of bile acid synthesis and biliary transport ⁷⁴ 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	11.33	HSD3B7 CYP7B1 AMACR AKR1D1 ACOX2 ABCB11
4	Oxysterols derived from cholesterol ⁷⁴ Show member pathways 7-oxo-C and 7-beta-HC pathways ⁷⁴	11	HSD3B7 GPR183 CYP7B1
5	Nuclear receptors in lipid metabolism and toxicity ⁷⁴	10.87	ABCD3 ABCB11

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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	peroxisomal matrix	GO:0005782	9.43	AMACR ACOX2 ABCD3
2	peroxisome	GO:0005777	9.23	AMACR ACOX2 ABCD4 ABCD3

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

#	Name	GO ID	Score	Top Affiliating Genes
1	peroxisome organization	GO:0007031	9.76	ABCD4 ABCD3
2	very long-chain fatty acid metabolic process	GO:0000038	9.73	ACOX2 ABCD3
3	bile acid metabolic process	GO:0008206	9.71	AMACR ABCB11
4	fatty acid beta-oxidation using acyl-CoA oxidase	GO:0033540	9.67	AMACR ACOX2
5	B cell chemotaxis	GO:0035754	9.62	CYP7B1 HSD3B7
6	very long-chain fatty acid catabolic process	GO:0042760	9.56	ABCD3 ABCD4
7	fatty acid beta-oxidation	GO:0006635	9.55	ACOX2 ABCD4 ABCD3
8	bile acid biosynthetic process	GO:0006699	9.4	HSD3B7 CYP7B1 AMACR AKR1D1 ABCD3 ABCB11
9	long-chain fatty acid import into peroxisome	GO:0015910	9.26	ABCD4 ABCD3

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

#	Name	GO ID	Score	Top Affiliating Genes
1	long-chain fatty acid transporter activity	GO:0005324	9.46	ABCD4 ABCD3
2	ATPase-coupled transmembrane transporter activity	GO:0042626	9.43	ABCD4 ABCD3 ABCB11
3	ABC-type transporter activity	GO:0140359	8.92	ABCD4 ABCD3 ABCB11

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Sources for Congenital Bile Acid Synthesis Defect

¹ BitterDB

² CDC

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²¹ GeneCards

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²⁶ GEO DataSets

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³⁶ LifeMap

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⁴⁰ MedGen

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⁴⁷ NCBI Bookshelf

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⁵¹ NIH Clinical Center

⁵² NINDS

⁵³ Novoseek

⁵⁴ Novus Biologicals

⁵⁵ ODiseA

⁵⁶ OMIM via Orphanet

⁵⁷ OMIM® (Updated 24-Oct-2022)

⁵⁸ Orphanet

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⁶¹ PubChem

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⁶⁵ R&D Systems

⁶⁶ Reactome

⁶⁷ Sino Biological

⁶⁸ SNOMED-CT

⁶⁹ SNOMED-CT via HPO

⁷⁰ Tocris

⁷¹ UMLS

⁷² UMLS via Orphanet

⁷³ UniProtKB/Swiss-Prot

⁷⁴ WikiPathways

⁷⁵ Wikipedia

CBA MCID: CNG002 MIFTS: 37	Congenital Bile Acid Synthesis Defect (CBA) Categories: Blood diseases, Endocrine diseases, Gastrointestinal diseases, Genetic diseases, Liver diseases, Metabolic diseases, Nephrological diseases, Neuronal diseases, Rare diseases	Data Licensing For inquiries, contact: [email protected]
Genes Variations Tissues Related diseases Publications Symptoms & Phenotypes Expand all tables

Congenital Bile Acid Synthesis Defect (CBA)

Aliases & Classifications for Congenital Bile Acid Synthesis Defect

MalaCards integrated aliases for Congenital Bile Acid Synthesis Defect:

Classifications:

External Ids:

Summaries for Congenital Bile Acid Synthesis Defect

Related Diseases for Congenital Bile Acid Synthesis Defect

Diseases in the Disorder of Bile Acid Synthesis family:

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

Graphical network of the top 20 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:

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

Drugs & Therapeutics for Congenital Bile Acid Synthesis Defect

Genetic Tests for Congenital Bile Acid Synthesis Defect

Genetic tests related to Congenital Bile Acid Synthesis Defect:

Anatomical Context for Congenital Bile Acid Synthesis Defect

Organs/tissues related to Congenital Bile Acid Synthesis Defect:

Publications for Congenital Bile Acid Synthesis Defect

Articles related to Congenital Bile Acid Synthesis Defect:

Genes for Congenital Bile Acid Synthesis Defect

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

Variations for Congenital Bile Acid Synthesis Defect

ClinVar genetic disease variations for Congenital Bile Acid Synthesis Defect:

Expression for Congenital Bile Acid Synthesis Defect

Pathways for Congenital Bile Acid Synthesis Defect

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

GO Terms for Congenital Bile Acid Synthesis Defect

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

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

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

Sources for Congenital Bile Acid Synthesis Defect