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

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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 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

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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, 3, 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. The drugs Ganirelix and Leuprolide have been mentioned in the context of this disorder. Affiliated tissues include liver, breast and testes.

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

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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 201)

#	Related Disease	Score	Top Affiliating Genes
1	bile acid synthesis defect, congenital, 2	34.5	HSD3B7 AKR1D1
2	bile acid synthesis defect, congenital, 3	34.0	HSD3B7 CYP7B1 AKR1D1
3	bile acid synthesis defect, congenital, 1	12.6
4	bile acid synthesis defect, congenital, 4	12.4
5	bile acid synthesis defect, congenital, 5	12.4
6	bile acid synthesis defect, congenital, 6	12.3
7	cholestasis, progressive familial intrahepatic, 4	12.0
8	age-related hearing loss	10.5
9	ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus	10.5
10	myeloid leukemia	10.4
11	cholestasis-lymphedema syndrome	10.4	HSD3B7 AKR1D1
12	adenoma	10.3
13	prostate transitional cell carcinoma	10.3	AMACR ABCD3
14	allergic hypersensitivity disease	10.3
15	schistosoma mansoni infection, susceptibility/	10.2
16	schistosomiasis	10.2
17	48,xyyy	10.2
18	autoimmune disease	10.2
19	lymphoma	10.2
20	vasculitis	10.2
21	amyloidosis	10.2
22	osteogenic sarcoma	10.2
23	leukemia, acute myeloid	10.2
24	kala-azar 1	10.2
25	alpha/beta t-cell lymphopenia with gamma/delta t-cell expansion, severe cytomegalovirus infection, and autoimmunity	10.2
26	sensorineural hearing loss	10.2
27	retinal degeneration	10.2
28	leishmaniasis	10.2
29	cytokine deficiency	10.2
30	splenomegaly	10.2
31	alpha-methylacyl-coa racemase deficiency	10.2	C1QTNF3-AMACR AMACR ACOX2
32	hearing loss, noise-induced	10.1
33	adenocarcinoma	10.1
34	hashimoto thyroiditis	10.1
35	branchiootic syndrome 1	10.1
36	thyroiditis	10.1
37	peritonitis	10.1
38	toxoplasmosis	10.1
39	hypereosinophilic syndrome	10.1
40	uterine sarcoma	10.1
41	cardiomyopathy, familial hypertrophic, 6	10.1	DEFB105B DEFB105A
42	peroxisomal biogenesis disorder	10.1	ACOX2 ABCD3
43	west nile fever	10.0	DEFB105B DEFB105A
44	immune deficiency disease	10.0
45	diamond-blackfan anemia 2	10.0
46	malaria	10.0
47	pre-eclampsia	10.0
48	portal hypertension	10.0
49	leukemia	10.0
50	exocrine pancreatic insufficiency	10.0

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

Drugs for Congenital Bile Acid Synthesis Defect (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 16)

#

Name

Status

Phase

Clinical Trials

Cas Number

PubChem Id

1

Ganirelix

Approved

Phase 4

123246-29-7, 124904-93-4

25081094

Synonyms:

123246-29-7

124904-93-4

CHEBI:336376

CHEMBL1251

D08010

Ganirelix

Ganirelix (INN)

Ganirelix [INN:BAN]

Ganirelix acetate

Ganirelixum

Ganirelixum [INN-Latin]

LS-181948

LS-187280

Orgalutran

Orgalutran (TN)

RS-26306

UNII-IX503L9WN0

2

Leuprolide

Approved, Investigational

Phase 4

53714-56-0

657181 3911

Synonyms:

(D-Leu(6),des-gly-NH2(10),pro-ethylamide(9))-gonadotropin-releasing hormone

5-oxoPro-His-Trp-Ser-Tyr-D-Leu-Leu-Arg-ProNHC2H5 dihydrate

5-oxoprolylhistidyltryptophylseryltyrosylleucylleucyl-n5-(diaminomethylidene)ornithyl-n-ethylprolinamide

AC1L1GZK

AC1L9B44

AC1Q5OPO

Acetate, leuprolide

acetic acid

AR-1G9354

C07612

CID3911

CID441410

D00989

D08113

Enantone

Enantone (TN)

I04-0109

L001094

L002030

leuprolide

Leuprolide

Leuprolide acetate

Leuprolide monoacetate

Leuprolide, (DL-leu)-isomer

Leuprolide, (L-leu)-isomer

Leuprorelin

Leuprorelin (INN)

Leuprorelin acetate

Leuprorelin acetate (JAN)

Leuprorelina

Leuproreline

Leuprorelinum

L-Pyroglutamyl-L-histidyl-L-tryptophyl-L-seryl-L-tyrosyl-D-leucyl-L-leucyl-L-arginyl-L-proline ethylamide

Lupron

Lupron (TN)

Monoacetate, leuprolide

N-[1-[[1-[[1-[[1-[[1-[[1-[[5-(diaminomethylideneamino)-1-[2-(ethylcarbamoyl)pyrrolidin-1-yl]-1-oxopentan-2-yl]amino]-4-methyl-1-oxopentan-2-yl]amino]-4-methyl-1-oxopentan-2-yl]amino]-3-(4-hydroxyphenyl)-1-oxopropan-2-yl]amino]-3-hydroxy-1-oxopropan-2-yl]amino]-3-(1H-indol-3-yl)-1-oxopropan-2-yl]amino]-3-(1H-imidazol-5-yl)-1-oxopropan-2-yl]-5-oxopyrrolidine-2-carboxamide

NSC377526

NSC746847

PGlu-his-TRP-ser-tyr-D-leu-leu-arg-pro-NHC2H5

PGlu-his-TRP-ser-tyr-D-leu-leu-arg-pro-nhet

TAP 144

TAP-144

3

Menotropins

Approved

Phase 4

61489-71-2, 9002-68-0

5360545

Synonyms:

61489-71-2

D02692

Human menopausal gonadotrophin

Human Menopausal Gonadotrophin

Human Menopausal Gonadotrophin (JP15)

Humegon

Humegon (TN)

LH)

Menotrophin

Menotropin

Menotropina

MENOTROPINS

Menotropins (FSH

Menotropins (USP)

4

Antineoplastic Agents, Hormonal

Phase 4

5

Hormone Antagonists

Phase 4

6

Follicle Stimulating Hormone

Phase 4

7

Hormones

Phase 4

8

Gemcitabine

Approved

Phase 2

95058-81-4

60750

Synonyms:

103882-84-4

122111-03-9

2',2'-DFDC

2',2'-DiF-dC

2',2'-difluoro-2'-Deoxycytidine

2',2'-Difluoro-2'-deoxycytidine

2',2'-Difluorodeoxycytidine

2'-Deoxy-.beta.-D-2',2'-difluorocytidine

2'-Deoxy-2',2'-difluorocytidine

2'-Deoxy-2',2''-difluorocytidine-5'-O-monophosphate

2'-Deoxy-2'-difluorocytidine

4-amino-1-((2R,4R,5R)-3,3-difluoro-4-hydroxy-5-(hydroxymethyl)-tetrahydrofuran-2-yl)pyrimidin-2(1H)-one

4-amino-1-((2R,4R,5R)-3,3-difluoro-4-Hydroxy-5-(hydroxymethyl)-tetrahydrofuran-2-yl)pyrimidin-2(1H)-one

4-Amino-1-[(2R,4R,5R)-3,3-difluoro-4-hydroxy-5-(hydroxymethyl)oxolan-2-yl]pyrimidin-2-one

4-Amino-1-[3,3-difluoro-4-hydroxy-5-(hydroxymethyl) tetrahydrofuran-2-yl]-1H-pyrimidin-2-one

95058-81-4

AB1004842

AC1L1TUQ

C07650

CCRIS 8984

CHEBI:175901

CHEMBL888

CID60750

Cytidine, 2'-deoxy-2',2'-difluoro-2'-Deoxy-.beta.-D-2',2'-difluorocytidine

D02368

DB00441

DDFC

DFdC

DFDC

DFdCyd

Folfugem

Gamcitabine

Gemcel

Gemcin

Gemcitabin

Gemcitabina

Gemcitabina [INN-Spanish]

gemcitabine

Gemcitabine

Gemcitabine (USAN/INN)

Gemcitabine HCl

Gemcitabine hydrochloride

Gemcitabine stereoisomer

Gemcitabine, (alpha-D-threo-pentofuranosyl)-isomer

Gemcitabine, (beta-D-threo-pentafuranosyl)-isomer

Gemcitabine, (D-threo-pentafuranosyl)-isomer

Gemcitabinum

Gemcitabinum [INN-Latin]

GemLip

Gemtro

Gemzar

Gemzar (hydrochloride)

GEO

HMS2089P10

HSDB 7567

Inno-D07001

LS-59139

LY 188011

LY188011

LY-188011

NCGC00168784-01

NChemBio.2007.10-comp25

nchembio.573-comp7

nchembio.90-comp2

NSC 613327

NSC613327

TL8005979

UNII-B76N6SBZ8R

Zefei

ZINC18279854

9

Oxaliplatin

Approved, Investigational

Phase 2

61825-94-3

43805 6857599 5310940 9887054

Synonyms:

CHEMBL1201055

CID9887054

D01790

DACPLAT

Diaminocyclohexane Oxalatoplatinum

Eloxatin

Eloxatin (TN)

Elplat

Foloxatine

L-OHP

Oxalatoplatin

Oxalatoplatinum

oxaliplatin

Oxaliplatin

Oxaliplatin (JAN/USAN/INN)

Oxaliplatin [Usan:Inn:Ban]

oxaliplatine

oxaliplatino

Oxaliplatino [Spanish]

oxaliplatinum

Oxaliplatinum [Latin]

Oxaloplatine [French]

Oxaloplatino [Spanish]

Transplatin

10

Immunologic Factors

Phase 2

11

Anti-Infective Agents

Phase 2

12

Immunosuppressive Agents

Phase 2

13

Antiviral Agents

Phase 2

14

Antimetabolites

Phase 2

15

Ambrisentan

Approved, Investigational

177036-94-1

6918493

Synonyms:

(+-)-(2S)-2-((4,6-Dimethylpyrimidin-2-yl)oxy)-3-methoxy-3,3-diphenylpropanoic acid

(2S)-2-[(4,6-dimethylpyrimidin-2-yl)oxy]-3-methoxy- 3,3-diphenylpropanoic acid

177036-94-1

2-(4,6-dimethylpyrimidin-2-yl)oxy-3-methoxy-3,3-diphenylpropanoic acid

2-(4,6-dimethylpyrimidin-2-yl)oxy-3-methoxy-3,3-diphenyl-propanoic acid

2-[(4,6-dimethylpyrimidin-2-yl)oxy]-3-methoxy-3,3-diphenylpropanoic acid

AC1L53VT

Ambrisentan

Ambrisentan [INN]

Benzenepropanoic acid, .alpha.-[(4,6-dimethyl-2-pyrimidinyl)oxy]-.beta.-methoxy-.beta.-phe

BSF 208075

BSF208075

BSF-208075

C467894

CHEBI:205299

CHEMBL302753

CID197712

Gilead brand of ambrisentan

I06-2077

Letairis

LS-186563

LS-187364

LU 208075

LU208075

LU-208075

MLS001195278

MolPort-002-945-567

NCGC00160662-01

SMR000502713

ST51051295

STK097095

UNII-HW6NV07QEC

16

Antihypertensive Agents

Interventional clinical trials:

#	Name	Status	NCT ID	Phase	Drugs
1	Efficacy of Recombinant FSH/GnRH Antagonist Protocol With and Without LH Adjunct and GnRH Agonist Trigger for Egg Bank Donation	Completed	NCT02069808	Phase 4	Follistim;Ganirelix;Menotropins;Leuprolide
2	A Phase II Trial of Gemcitabine and Oxaliplatin for ER-, PR-, HER2NEU- (Triple Negative) Metastatic Breast Cancer	Terminated	NCT00674206	Phase 2	Gemcitabine;Oxaliplatin
3	the Evaluation of Diagnostic Value of Rigiscan Test (Nocturnal Penile Tumescence and Rigidity, NPTR) in Chinese Males	Unknown status	NCT02573805
4	Drug Use Investigation for VOLIBRIS® (Ambrisentan) (Pulmonary Arterial Hypertension)	Active, not recruiting	NCT01406327		Ambrisentan

Search 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:

⁴⁰

Liver, Breast, Testes

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Publications for Congenital Bile Acid Synthesis Defect

Articles related to Congenital Bile Acid Synthesis Defect:

#	Title	Authors	PMID	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]. ⁶¹	Cheng Y...Song YZ	28697823	2017
2	Cytochrome P450s in the synthesis of cholesterol and bile acids--from mouse models to human diseases. ⁶¹	Lorbek G...Rozman D	22111624	2012

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Genes for Congenital Bile Acid Synthesis Defect

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

(show all 21)

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence
1	AKR1D1	Aldo-Keto Reductase Family 1 Member D1	Protein Coding	37.95	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	34.91	DISEASES inferred ¹⁵ GeneCards inferred via : Disorders Summaries Variants (show sections)
3	CYP7B1	Cytochrome P450 Family 7 Subfamily B Member 1	Protein Coding	25.85	DISEASES inferred ¹⁵ GeneCards inferred via : Disorders Variants (show sections)
4	AMACR	Alpha-Methylacyl-CoA Racemase	Protein Coding	18.49	GeneCards inferred via : Disorders Variants (show sections)
5	ACOX2	Acyl-CoA Oxidase 2	Protein Coding	17.57	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	8.57	GeneCards inferred via : Variants (show sections)
8	ABCB6	ATP Binding Cassette Subfamily B Member 6 (Langereis Blood Group)	Protein Coding	7.52	DISEASES inferred ¹⁵
9	BLNK	B Cell Linker	Protein Coding	6.85	DISEASES inferred ¹⁵
10	SNORA7A	Small Nucleolar RNA, H/ACA Box 7A	RNA Gene	6.58	DISEASES inferred ¹⁵
11	PVR	PVR Cell Adhesion Molecule	Protein Coding	6.54	DISEASES inferred ¹⁵
12	TMEM102	Transmembrane Protein 102	Protein Coding	6.51	DISEASES inferred ¹⁵
13	FBXO3	F-Box Protein 3	Protein Coding	6.28	DISEASES inferred ¹⁵
14	DEFB105B	Defensin Beta 105B	Protein Coding	6.2	DISEASES inferred ¹⁵
15	DEFB105A	Defensin Beta 105A	Protein Coding	6.19	DISEASES inferred ¹⁵
16	GABBR1	Gamma-Aminobutyric Acid Type B Receptor Subunit 1	Protein Coding	6.07	DISEASES inferred ¹⁵
17	CBY1	Chibby Family Member 1, Beta Catenin Antagonist	Protein Coding	6.03	DISEASES inferred ¹⁵
18	SSNA1	SS Nuclear Autoantigen 1	Protein Coding	5.98	DISEASES inferred ¹⁵
19	SAA1	Serum Amyloid A1	Protein Coding	5.96	DISEASES inferred ¹⁵
20	CEBPZ	CCAAT Enhancer Binding Protein Zeta	Protein Coding	5.94	DISEASES inferred ¹⁵
21	CTNNBL1	Catenin Beta Like 1	Protein Coding	5.92	DISEASES inferred ¹⁵

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Variations for Congenital Bile Acid Synthesis Defect

ClinVar genetic disease variations for Congenital Bile Acid Synthesis Defect:

⁶ (show all 28) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎

#	Gene	Name	Type	Significance	ClinVarId	dbSNP ID	GRCh37 Pos	GRCh38 Pos
1	CYP7B1	NM_004820.5(CYP7B1):c.204G>A (p.Arg68=)	SNV	Conflicting interpretations of pathogenicity	220699	rs377119798	8:65537015-65537015	8:64624458-64624458
2	CYP7B1	NM_004820.5(CYP7B1):c.260-15dup	duplication	Conflicting interpretations of pathogenicity	281577	rs8192896	8:65528842-65528843	8:64616285-64616286
3	CYP7B1	NM_004820.5(CYP7B1):c.522T>C (p.Ser174=)	SNV	Conflicting interpretations of pathogenicity	363585	rs371522442	8:65528576-65528576	8:64616019-64616019
4	CYP7B1	NM_004820.5(CYP7B1):c.1323G>A (p.Pro441=)	SNV	Conflicting interpretations of pathogenicity	363578	rs201281307	8:65509397-65509397	8:64596840-64596840
5	CYP7B1	NM_004820.5(CYP7B1):c.1456C>T (p.Arg486Cys)	SNV	Conflicting interpretations of pathogenicity	6107	rs116171274	8:65509264-65509264	8:64596707-64596707
6	CYP7B1	NM_004820.5(CYP7B1):c.123-19dup	duplication	Conflicting interpretations of pathogenicity	363589	rs8192895	8:65537104-65537105	8:64624547-64624548
7	CYP7B1	NM_004820.5(CYP7B1):c.-11G>A	SNV	Uncertain significance	363591	rs886063077	8:65711155-65711155	8:64798598-64798598
8	CYP7B1	NM_004820.5(CYP7B1):c.-99G>C	SNV	Uncertain significance	363594	rs886063078	8:65711243-65711243	8:64798686-64798686
9	CYP7B1	NM_004820.5(CYP7B1):c.1233G>A (p.Glu411=)	SNV	Uncertain significance	363580	rs369566738	8:65517239-65517239	8:64604682-64604682
10	CYP7B1	NM_004820.5(CYP7B1):c.1018C>T (p.His340Tyr)	SNV	Uncertain significance	363581	rs757698965	8:65527622-65527622	8:64615065-64615065
11	CYP7B1	NM_004820.5(CYP7B1):c.957T>C (p.Arg319=)	SNV	Uncertain significance	363583	rs886063073	8:65527683-65527683	8:64615126-64615126
12	CYP7B1	NM_004820.5(CYP7B1):c.349A>G (p.Lys117Glu)	SNV	Uncertain significance	363586	rs368626966	8:65528749-65528749	8:64616192-64616192
13	AKR1D1	NM_005989.4(AKR1D1):c.*1372dup	duplication	Uncertain significance	358995	rs199524592	7:137802770-137802771	7:138118024-138118025
14	CYP7B1	NM_004820.5(CYP7B1):c.1310G>A (p.Cys437Tyr)	SNV	Uncertain significance	363579	rs886063072	8:65509410-65509410	8:64596853-64596853
15	CYP7B1	NM_004820.5(CYP7B1):c.929G>A (p.Arg310Gln)	SNV	Uncertain significance	363584	rs201867790	8:65527711-65527711	8:64615154-64615154
16	CYP7B1	NM_004820.5(CYP7B1):c.92T>A (p.Leu31Gln)	SNV	Uncertain significance	363590	rs886063076	8:65711053-65711053	8:64798496-64798496
17	CYP7B1	NM_004820.5(CYP7B1):c.261A>G (p.Gly87=)	SNV	Uncertain significance	363587	rs886063074	8:65528837-65528837	8:64616280-64616280
18	CYP7B1	NM_004820.5(CYP7B1):c.209T>A (p.Met70Lys)	SNV	Uncertain significance	363588	rs886063075	8:65537010-65537010	8:64624453-64624453
19	CYP7B1	NM_004820.5(CYP7B1):c.-73A>C	SNV	Uncertain significance	363592	rs72554625	8:65711217-65711217	8:64798660-64798660
20	CYP7B1	NM_004820.5(CYP7B1):c.-144C>T	SNV	Uncertain significance	363595	rs191075257	8:65711288-65711288	8:64798731-64798731
21	CYP7B1	NM_004820.5(CYP7B1):c.*111G>A	SNV	Uncertain significance	363577	rs140646421	8:65509088-65509088	8:64596531-64596531
22	CYP7B1	NM_004820.5(CYP7B1):c.125G>A (p.Arg42Lys)	SNV	Uncertain significance	288985	rs375384257	8:65537094-65537094	8:64624537-64624537
23	CYP7B1	NM_004820.5(CYP7B1):c.*402A>T	SNV	Uncertain significance	363575	rs189470710	8:65508797-65508797	8:64596240-64596240
24	CYP7B1	NM_004820.5(CYP7B1):c.*337T>G	SNV	Likely benign	363576	rs118000312	8:65508862-65508862	8:64596305-64596305
25	CYP7B1	NM_004820.5(CYP7B1):c.971G>A (p.Arg324His)	SNV	Benign/Likely benign	363582	rs59035258	8:65527669-65527669	8:64615112-64615112
26	CYP7B1	NM_004820.5(CYP7B1):c.56T>C (p.Leu19Pro)	SNV	Benign/Likely benign	193293	rs72554624	8:65711089-65711089	8:64798532-64798532
27	CYP7B1	NM_004820.5(CYP7B1):c.-89C>G	SNV	Benign/Likely benign	363593	rs6994347	8:65711233-65711233	8:64798676-64798676
28	CYP7B1	NM_004820.5(CYP7B1):c.*529A>G	SNV	Benign/Likely benign	363574	rs113473170	8:65508670-65508670	8:64596113-64596113

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

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

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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

Drugs for Congenital Bile Acid Synthesis Defect (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

Interventional clinical trials:

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