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

Sources

Aliases & Classifications for Congenital Bile Acid Synthesis Defect

MalaCards integrated aliases for Congenital Bile Acid Synthesis Defect:

Name: Congenital Bile Acid Synthesis Defect ¹² ⁵⁸ ³⁶ 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 ⁷¹

Basd ⁵⁸

Cba ¹²

Classifications:

MalaCards categories:
Global: Metabolic diseases Rare diseases Genetic diseases
Anatomical: Liver diseases Neuronal diseases Gastrointestinal diseases Nephrological diseases Oral diseases Blood diseases

See all MalaCards categories (disease lists)

ICD10: ³²

Diseases of the digestive system

Diseases of liver

Other diseases of liver

Other specified diseases of liver

Orphanet: ⁵⁸

Rare hepatic diseases

Inborn errors of metabolism

External Ids:

Disease Ontology ¹² DOID:0050674

KEGG ³⁶ H00628

ICD10 ³² K76.8

Orphanet ⁵⁸ ORPHA485631

EFO ¹⁷ EFO_0009039

UMLS ⁷¹ C1843116

Sources

Summaries for Congenital Bile Acid Synthesis Defect

KEGG : ³⁶ Congenital bile acid synthesis defects (CBAS) involve congenital deficiencies in enzymes responsible for catalyzing key reactions in bile acid synthesis. CBAS type 1, 2 ,3 and 4 are due to mutations in HSD3B7, AKR1D1, CYP7B1, and AMACR, respectively. Inherited mutations that impair bile acid synthesis cause a spectrum of human disease ranging from liver failure in early childhood to progressive neuropathy in adults.

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, 4, 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.

Disease Ontology : ¹² A steroid inherited metabolic disorder characterized by abnormal conversion of cholesterol into bile acids which occurs predominantly in the liver.

Sources

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 186)

#	Related Disease	Score	Top Affiliating Genes
1	bile acid synthesis defect, congenital, 2	33.5	HSD3B7 AKR1D1
2	bile acid synthesis defect, congenital, 4	33.3	C1QTNF3-AMACR AMACR
3	bile acid synthesis defect, congenital, 3	33.1	HSD3B7 CYP7B1 AKR1D1
4	bile acid synthesis defect, congenital, 1	12.2
5	bile acid synthesis defect, congenital, 5	11.9
6	bile acid synthesis defect, congenital, 6	11.8
7	cholestasis, progressive familial intrahepatic, 4	11.8
8	ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus	10.5
9	age-related hearing loss	10.4
10	cytokine deficiency	10.3
11	cholestasis-lymphedema syndrome	10.2	HSD3B7 AKR1D1
12	prostate transitional cell carcinoma	10.2	AMACR ABCD3
13	schistosoma mansoni infection, susceptibility/	10.2
14	allergic disease	10.2
15	schistosomiasis	10.2
16	myeloid leukemia	10.2
17	leukemia, acute myeloid	10.1
18	amyloidosis	10.1
19	osteogenic sarcoma	10.1
20	aging	10.1
21	kala-azar 1	10.1
22	sensorineural hearing loss	10.1
23	retinal degeneration	10.1
24	leishmaniasis	10.1
25	48,xyyy	10.1
26	splenomegaly	10.1
27	west nile fever	10.1	DEFB105B DEFB105A
28	autosomal recessive disease	10.1
29	cholestasis	10.1
30	osteopetrosis, autosomal recessive 2	10.1	DEFB105B DEFB105A
31	autoimmune disease	10.1
32	hearing loss, noise-induced	10.1
33	vasculitis	10.1
34	peroxisomal biogenesis disorder	10.0	ACOX2 ABCD3
35	branchiootic syndrome 1	10.0
36	alpha/beta t-cell lymphopenia with gamma/delta t-cell expansion, severe cytomegalovirus infection, and autoimmunity	10.0
37	peritonitis	10.0
38	toxoplasmosis	10.0
39	uterine sarcoma	10.0
40	alpha-methylacyl-coa racemase deficiency	10.0	C1QTNF3-AMACR AMACR AKR1D1 ACOX2
41	hashimoto thyroiditis	10.0
42	type 1 diabetes mellitus	10.0
43	diamond-blackfan anemia 2	10.0
44	malaria	10.0
45	pre-eclampsia	10.0
46	portal hypertension	10.0
47	sarcoma	10.0
48	leukemia	10.0
49	exocrine pancreatic insufficiency	10.0
50	b cell deficiency	10.0

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

Sources

Symptoms & Phenotypes for Congenital Bile Acid Synthesis Defect

UMLS symptoms related to Congenital Bile Acid Synthesis Defect:

diarrhea, icterus

Sources

Drugs & Therapeutics for Congenital Bile Acid Synthesis Defect

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

Sources

Genetic Tests for Congenital Bile Acid Synthesis Defect

Sources

Anatomical Context for Congenital Bile Acid Synthesis Defect

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

⁴⁰

Liver

Sources

Publications for Congenital Bile Acid Synthesis Defect

Articles related to Congenital Bile Acid Synthesis Defect:

#	Title	Authors	PMID	Year
1	[Clinical characteristics and gene variants of patients with infantile intrahepatic cholestasis]. ⁶¹	Wang MJ...Jin M	33476544	2021
2	[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]. ⁶¹	Cheng Y...Song YZ	28697823	2017
3	Cytochrome P450s in the synthesis of cholesterol and bile acids--from mouse models to human diseases. ⁶¹	Lorbek G...Rozman D	22111624	2012

Sources

Genes for Congenital Bile Acid Synthesis Defect

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

(show all 19)

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence
1	AKR1D1	Aldo-Keto Reductase Family 1 Member D1	Protein Coding	38.19	DISEASES inferred ¹⁵ GeneCards inferred via : Disorders Publications Variants (show sections)
2	HSD3B7	Hydroxy-Delta-5-Steroid Dehydrogenase, 3 Beta- And Steroid Delta-Isomerase 7	Protein Coding	35.49	DISEASES inferred ¹⁵ GeneCards inferred via : Disorders Summaries Variants (show sections)
3	CYP7B1	Cytochrome P450 Family 7 Subfamily B Member 1	Protein Coding	24.57	DISEASES inferred ¹⁵ GeneCards inferred via : Disorders Variants (show sections)
4	ACOX2	Acyl-CoA Oxidase 2	Protein Coding	20.64	DISEASES inferred ¹⁵ GeneCards inferred via : Disorders Variants (show sections)
5	AMACR	Alpha-Methylacyl-CoA Racemase	Protein Coding	18.25	GeneCards inferred via : Disorders Variants (show sections)
6	ABCD3	ATP Binding Cassette Subfamily D Member 3	Protein Coding	12.64	DISEASES inferred ¹⁵ GeneCards inferred via : Disorders (show sections)
7	C1QTNF3-AMACR	C1QTNF3-AMACR Readthrough (NMD Candidate)	RNA Gene	8.46	GeneCards inferred via : Variants (show sections)
8	SSNA1	SS Nuclear Autoantigen 1	Protein Coding	6.68	DISEASES inferred ¹⁵
9	DEFB105B	Defensin Beta 105B	Protein Coding	6.37	DISEASES inferred ¹⁵
10	DEFB105A	Defensin Beta 105A	Protein Coding	6.36	DISEASES inferred ¹⁵
11	GABBR1	Gamma-Aminobutyric Acid Type B Receptor Subunit 1	Protein Coding	6.25	DISEASES inferred ¹⁵
12	CEBPZ	CCAAT Enhancer Binding Protein Zeta	Protein Coding	6.15	DISEASES inferred ¹⁵
13	SAA1	Serum Amyloid A1	Protein Coding	6.12	DISEASES inferred ¹⁵
14	BLNK	B Cell Linker	Protein Coding	6.11	DISEASES inferred ¹⁵
15	FBXO3	F-Box Protein 3	Protein Coding	6.06	DISEASES inferred ¹⁵
16	TMEM102	Transmembrane Protein 102	Protein Coding	6	DISEASES inferred ¹⁵
17	GAD1	Glutamate Decarboxylase 1	Protein Coding	5.68	DISEASES inferred ¹⁵
18	CBY1	Chibby Family Member 1, Beta Catenin Antagonist	Protein Coding	5.6	DISEASES inferred ¹⁵
19	CBX8	Chromobox 8	Protein Coding	5.43	DISEASES inferred ¹⁵

Sources

Variations for Congenital Bile Acid Synthesis Defect

ClinVar genetic disease variations for Congenital Bile Acid Synthesis Defect:

⁶

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

Sources

Expression for Congenital Bile Acid Synthesis Defect

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

Sources

Pathways for Congenital Bile Acid Synthesis Defect

Pathways related to Congenital Bile Acid Synthesis Defect according to KEGG:

³⁶

#	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 ⁶⁵ Show member pathways Bile acid and bile salt metabolism ⁶⁵ bile acid biosynthesis, neutral pathway ¹ Primary bile acid biosynthesis ³⁶ Recycling of bile acids and salts ⁶⁵ Synthesis of bile acids and bile salts via 24-hydroxycholesterol ⁶⁵ Synthesis of bile acids and bile salts via 27-hydroxycholesterol ⁶⁵ Synthesis of bile acids and bile salts via 7alpha-hydroxycholesterol ⁶⁵	11.26	HSD3B7 CYP7B1 AMACR AKR1D1 ACOX2
2	Peroxisome ³⁶	11.05	AMACR ACOX2 ABCD3
3	Synaptic Neurotransmission Pathways: GABAergic Inhibition ⁶⁴	10.39	GAD1 GABBR1

Sources

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	peroxisome	GO:0005777	9.13	AMACR ACOX2 ABCD3
2	peroxisomal matrix	GO:0005782	8.8	AMACR ACOX2 ABCD3

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

#	Name	GO ID	Score	Top Affiliating Genes
1	fatty acid beta-oxidation using acyl-CoA oxidase	GO:0033540	9.16	AMACR ACOX2
2	bile acid biosynthetic process	GO:0006699	9.02	HSD3B7 CYP7B1 AMACR AKR1D1 ACOX2
3	B cell chemotaxis	GO:0035754	8.96	HSD3B7 CYP7B1

Sources

Sources for Congenital Bile Acid Synthesis Defect

¹ BioSystems

² BitterDB

³ CDC

⁴ Cell Signaling Technology

⁵ ClinicalTrials

⁶ ClinVar

⁷ CNVD

⁸ Cochrane Library

⁹ Cosmic

¹⁰ dbSNP

¹¹ DGIdb

¹² Disease Ontology

¹³ diseasecard

¹⁴ DiseaseEnhancer

¹⁵ DISEASES

¹⁶ DrugBank

¹⁷ EFO

¹⁸ ExPASy

¹⁹ FMA

²⁰ GARD

²¹ GeneAnalytics

²² GeneCards

²³ GeneGo (Thomson Reuters)

²⁴ GeneHancer via GeneCards

²⁵ GeneReviews

²⁶ GenomeRNAi

²⁷ GEO DataSets

²⁸ GO

²⁹ GTR

³⁰ HMDB

³¹ HPO

³² ICD10

³³ ICD10 via Orphanet

³⁴ ICD9CM

³⁵ IUPHAR

³⁶ KEGG

³⁷ LifeMap

³⁸ LncRNADisease

³⁹ LOVD

⁴⁰ MalaCards

⁴¹ MedGen

⁴² MedlinePlus

⁴³ MedlinePlus Genetics

⁴⁴ MeSH

⁴⁵ MESH via Orphanet

⁴⁶ MGI

⁴⁷ miR2Disease

⁴⁸ NCBI Bookshelf

⁴⁹ NCI

⁵⁰ NCIt

⁵¹ NDF-RT

⁵² NIH Clinical Center

⁵³ NINDS

⁵⁴ Novoseek

⁵⁵ Novus Biologicals

⁵⁶ OMIM via Orphanet

⁵⁷ OMIM® (Updated 05-Mar-2021)

⁵⁸ Orphanet

⁵⁹ PathCards

⁶⁰ PharmGKB

⁶¹ PubMed

⁶² PubMed Health

⁶³ QIAGEN

⁶⁴ R&D Systems

⁶⁵ Reactome

⁶⁶ Sino Biological

⁶⁷ SNOMED-CT

⁶⁸ SNOMED-CT via HPO

⁶⁹ TGDB

⁷⁰ Tocris

⁷¹ UMLS

⁷² UMLS via Orphanet

⁷³ UniProtKB/Swiss-Prot

⁷⁴ Wikipedia

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:

Drugs & Therapeutics 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:

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 KEGG:

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:

Sources for Congenital Bile Acid Synthesis Defect