CBA
MCID: CNG002
MIFTS: 37

Congenital Bile Acid Synthesis Defect (CBA)

Categories: Blood diseases, 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 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:

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
UMLS 71 C1843116

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.

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:



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

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
2
Leuprolide Approved, Investigational Phase 4 53714-56-0 657181 3911
3
Menotropins Approved Phase 4 61489-71-2, 9002-68-0 5360545
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
9
Oxaliplatin Approved, Investigational Phase 2 61825-94-3 43805 6857599 5310940 9887054
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
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

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:

40
Liver, Breast, Testes

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
28697823 2017
2
Cytochrome P450s in the synthesis of cholesterol and bile acids--from mouse models to human diseases. 61
22111624 2012

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.260-15dupduplication 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.123-19dupduplication Conflicting interpretations of pathogenicity 363589 rs8192895 8:65537104-65537105 8:64624547-64624548
7 CYP7B1 NM_004820.5(CYP7B1):c.-11G>ASNV Uncertain significance 363591 rs886063077 8:65711155-65711155 8:64798598-64798598
8 CYP7B1 NM_004820.5(CYP7B1):c.-99G>CSNV 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.*1372dupduplication 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>CSNV Uncertain significance 363592 rs72554625 8:65711217-65711217 8:64798660-64798660
20 CYP7B1 NM_004820.5(CYP7B1):c.-144C>TSNV Uncertain significance 363595 rs191075257 8:65711288-65711288 8:64798731-64798731
21 CYP7B1 NM_004820.5(CYP7B1):c.*111G>ASNV 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>TSNV Uncertain significance 363575 rs189470710 8:65508797-65508797 8:64596240-64596240
24 CYP7B1 NM_004820.5(CYP7B1):c.*337T>GSNV 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>GSNV Benign/Likely benign 363593 rs6994347 8:65711233-65711233 8:64798676-64798676
28 CYP7B1 NM_004820.5(CYP7B1):c.*529A>GSNV Benign/Likely benign 363574 rs113473170 8:65508670-65508670 8:64596113-64596113

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:

36
# 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 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 for Congenital Bile Acid Synthesis Defect

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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