CBAS3
MCID: BLC011
MIFTS: 38

Bile Acid Synthesis Defect, Congenital, 3 (CBAS3)

Categories: Blood diseases, Gastrointestinal diseases, Genetic diseases, Liver diseases, Metabolic diseases, Nephrological diseases, Neuronal diseases, Oral diseases, Rare diseases

Aliases & Classifications for Bile Acid Synthesis Defect, Congenital, 3

MalaCards integrated aliases for Bile Acid Synthesis Defect, Congenital, 3:

Name: Bile Acid Synthesis Defect, Congenital, 3 57 29 13 6 44 70
Congenital Bile Acid Synthesis Defect 3 12 72 15
Cbas3 57 12 72
Oxysterol 7-Alpha-Hydroxylase Deficiency 12 58
Bile Acid Synthesis Defect, Congenital, Type 3 39
Congenital Bile Acid Synthesis Defect Type 3 58
Basd3 58

Characteristics:

Orphanet epidemiological data:

58
congenital bile acid synthesis defect type 3
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM®:

57 (Updated 20-May-2021)
Miscellaneous:
neonatal onset
caused by inborn error in bile acid synthesis

Inheritance:
autosomal recessive


HPO:

31
bile acid synthesis defect, congenital, 3:
Inheritance autosomal recessive inheritance
Onset and clinical course neonatal onset


Classifications:

Orphanet: 58  
Rare hepatic diseases
Inborn errors of metabolism


External Ids:

Disease Ontology 12 DOID:0111070
OMIM® 57 613812
OMIM Phenotypic Series 57 PS607765
MESH via Orphanet 45 C566340
ICD10 via Orphanet 33 K76.8
UMLS via Orphanet 71 C3151147
Orphanet 58 ORPHA79302
MedGen 41 C3151147
UMLS 70 C3151147

Summaries for Bile Acid Synthesis Defect, Congenital, 3

OMIM® : 57 Congenital bile acid synthesis defect-3 (CBAS3) is an autosomal recessive disorder characterized by prolonged jaundice after birth, hepatomegaly, conjugated hyperbilirubinemia, elevations in characteristic abnormal bile acids, and progressive intrahepatic cholestasis with liver fibrosis (summary by Setchell et al., 1998 and Ueki et al., 2008). For a general phenotypic description and a discussion of genetic heterogeneity of congenital bile acid synthesis defects, see 607765. (613812) (Updated 20-May-2021)

MalaCards based summary : Bile Acid Synthesis Defect, Congenital, 3, also known as congenital bile acid synthesis defect 3, is related to cholestasis-lymphedema syndrome and congenital bile acid synthesis defect, and has symptoms including diarrhea and icterus. An important gene associated with Bile Acid Synthesis Defect, Congenital, 3 is CYP7B1 (Cytochrome P450 Family 7 Subfamily B Member 1), and among its related pathways/superpathways are Metabolism and Cytochrome P450 - arranged by substrate type. Affiliated tissues include liver, and related phenotypes are splenomegaly and hepatomegaly

Disease Ontology : 12 A congenital bile acid synthesis defect characterized by intrahepatic cholestasis, malabsorption of fat and fat-soluble vitamins, and increased serum bilirubin that has material basis in homozygous mutation in the CYP7B1 gene on chromosome 8q12.

UniProtKB/Swiss-Prot : 72 Congenital bile acid synthesis defect 3: A disorder resulting in severe cholestasis, cirrhosis and liver synthetic failure. Hepatic microsomal oxysterol 7-alpha-hydroxylase activity is undetectable.

Related Diseases for Bile Acid Synthesis Defect, Congenital, 3

Graphical network of the top 20 diseases related to Bile Acid Synthesis Defect, Congenital, 3:



Diseases related to Bile Acid Synthesis Defect, Congenital, 3

Symptoms & Phenotypes for Bile Acid Synthesis Defect, Congenital, 3

Human phenotypes related to Bile Acid Synthesis Defect, Congenital, 3:

58 31 (show all 20)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 splenomegaly 58 31 hallmark (90%) Very frequent (99-80%) HP:0001744
2 hepatomegaly 58 31 hallmark (90%) Very frequent (99-80%) HP:0002240
3 elevated hepatic transaminase 58 31 hallmark (90%) Very frequent (99-80%) HP:0002910
4 jaundice 58 31 hallmark (90%) Very frequent (99-80%) HP:0000952
5 hepatic failure 58 31 hallmark (90%) Very frequent (99-80%) HP:0001399
6 abnormality of coagulation 58 31 hallmark (90%) Very frequent (99-80%) HP:0001928
7 congenital hepatic fibrosis 58 31 hallmark (90%) Very frequent (99-80%) HP:0002612
8 biliary tract abnormality 58 31 hallmark (90%) Very frequent (99-80%) HP:0001080
9 neonatal cholestatic liver disease 58 31 hallmark (90%) Very frequent (99-80%) HP:0006566
10 gastrointestinal hemorrhage 58 31 frequent (33%) Frequent (79-30%) HP:0002239
11 pruritus 58 31 frequent (33%) Frequent (79-30%) HP:0000989
12 failure to thrive 58 31 occasional (7.5%) Occasional (29-5%) HP:0001508
13 hepatitis 31 HP:0012115
14 cirrhosis 31 HP:0001394
15 steatorrhea 31 HP:0002570
16 acholic stools 31 HP:0011985
17 diarrhea 31 HP:0002014
18 intrahepatic cholestasis 31 HP:0001406
19 elevated alkaline phosphatase 31 HP:0003155
20 abnormality of the coagulation cascade 31 HP:0003256

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Growth Other:
failure to thrive

Abdomen External Features:
hepatomegaly
cirrhosis
jaundice
intrahepatic cholestasis
fibrosis seen on biopsy
more
Abdomen Gastrointestinal:
steatorrhea
diarrhea
malabsorption of fat and fat-soluble vitamins
discolored, acholic stools

Hematology:
coagulopathy secondary to liver disease

Abdomen Spleen:
splenomegaly

Skin Nails Hair Skin:
jaundice

Laboratory Abnormalities:
abnormal liver function tests
increased alkaline phosphatase
increased serum bilirubin
increased 3beta-hydroxy-5-cholen-24-oic acid in serum and urine
reduced normal bile acids in serum and urine

Clinical features from OMIM®:

613812 (Updated 20-May-2021)

UMLS symptoms related to Bile Acid Synthesis Defect, Congenital, 3:


diarrhea; icterus

Drugs & Therapeutics for Bile Acid Synthesis Defect, Congenital, 3

Search Clinical Trials , NIH Clinical Center for Bile Acid Synthesis Defect, Congenital, 3

Cochrane evidence based reviews: bile acid synthesis defect, congenital, 3

Genetic Tests for Bile Acid Synthesis Defect, Congenital, 3

Genetic tests related to Bile Acid Synthesis Defect, Congenital, 3:

# Genetic test Affiliating Genes
1 Bile Acid Synthesis Defect, Congenital, 3 29 CYP7B1

Anatomical Context for Bile Acid Synthesis Defect, Congenital, 3

MalaCards organs/tissues related to Bile Acid Synthesis Defect, Congenital, 3:

40
Liver

Publications for Bile Acid Synthesis Defect, Congenital, 3

Articles related to Bile Acid Synthesis Defect, Congenital, 3:

# Title Authors PMID Year
1
Neonatal cholestatic liver disease in an Asian patient with a homozygous mutation in the oxysterol 7alpha-hydroxylase gene. 6 57
18367963 2008
2
Identification of a new inborn error in bile acid synthesis: mutation of the oxysterol 7alpha-hydroxylase gene causes severe neonatal liver disease. 57 6
9802883 1998
3
Sequence alterations within CYP7B1 implicate defective cholesterol homeostasis in motor-neuron degeneration. 6
18252231 2008

Variations for Bile Acid Synthesis Defect, Congenital, 3

ClinVar genetic disease variations for Bile Acid Synthesis Defect, Congenital, 3:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 CYP7B1 NM_004820.5(CYP7B1):c.1162C>T (p.Arg388Ter) SNV Pathogenic 6100 rs72554620 GRCh37: 8:65517310-65517310
GRCh38: 8:64604753-64604753
2 CYP7B1 NM_004820.5(CYP7B1):c.334C>T (p.Arg112Ter) SNV Pathogenic 219912 rs200737038 GRCh37: 8:65528764-65528764
GRCh38: 8:64616207-64616207
3 CYP7B1 NM_004820.5(CYP7B1):c.1457G>A (p.Arg486His) SNV Uncertain significance 962151 GRCh37: 8:65509263-65509263
GRCh38: 8:64596706-64596706
4 CYP7B1 NM_004820.5(CYP7B1):c.530C>T (p.Thr177Met) SNV Uncertain significance 288705 rs145152682 GRCh37: 8:65528568-65528568
GRCh38: 8:64616011-64616011
5 CYP7B1 NM_004820.5(CYP7B1):c.17C>G (p.Ser6Cys) SNV Uncertain significance 598140 rs1044499833 GRCh37: 8:65711128-65711128
GRCh38: 8:64798571-64798571
6 CYP7B1 NM_004820.5(CYP7B1):c.350A>C (p.Lys117Thr) SNV Uncertain significance 595578 rs138977616 GRCh37: 8:65528748-65528748
GRCh38: 8:64616191-64616191

Expression for Bile Acid Synthesis Defect, Congenital, 3

Search GEO for disease gene expression data for Bile Acid Synthesis Defect, Congenital, 3.

Pathways for Bile Acid Synthesis Defect, Congenital, 3

Pathways related to Bile Acid Synthesis Defect, Congenital, 3 according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.45 UGT3A1 HSD3B7 CYP7B1 CYP27A1 BAAT AKR1D1
2
Show member pathways
12.44 UGT3A1 CYP7B1 CYP27A1 BAAT AKR1D1 AKR1C4
3
Show member pathways
11.34 HSD3B7 CYP7B1 CYP27A1 BAAT AKR1D1 AKR1C4
4
Show member pathways
11.16 CYP7B1 AKR1D1 AKR1C4

GO Terms for Bile Acid Synthesis Defect, Congenital, 3

Biological processes related to Bile Acid Synthesis Defect, Congenital, 3 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 lipid metabolic process GO:0006629 9.73 CYP7B1 CYP27A1 BAAT AKR1D1
2 oxidation-reduction process GO:0055114 9.65 HSD3B7 CYP7B1 CYP27A1 AKR1D1 AKR1C4
3 cholesterol metabolic process GO:0008203 9.48 CYP7B1 CYP27A1
4 sterol metabolic process GO:0016125 9.46 CYP7B1 CYP27A1
5 androgen metabolic process GO:0008209 9.4 AKR1D1 AKR1C4
6 cholesterol catabolic process GO:0006707 9.37 CYP27A1 AKR1D1
7 steroid biosynthetic process GO:0006694 9.33 HSD3B7 CYP7B1 CYP27A1
8 B cell chemotaxis GO:0035754 9.32 HSD3B7 CYP7B1
9 steroid metabolic process GO:0008202 9.26 CYP7B1 CYP27A1 AKR1D1 AKR1C4
10 bile acid biosynthetic process GO:0006699 9.1 HSD3B7 CYP7B1 CYP27A1 BAAT AKR1D1 AKR1C4

Molecular functions related to Bile Acid Synthesis Defect, Congenital, 3 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 monooxygenase activity GO:0004497 9.43 CYP7B1 CYP27A1
2 oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen GO:0016705 9.4 CYP7B1 CYP27A1
3 steroid hydroxylase activity GO:0008395 9.37 CYP7B1 CYP27A1
4 aldo-keto reductase (NADP) activity GO:0004033 9.32 AKR1D1 AKR1C4
5 alditol:NADP+ 1-oxidoreductase activity GO:0004032 9.26 AKR1D1 AKR1C4
6 steroid dehydrogenase activity GO:0016229 9.16 AKR1D1 AKR1C4
7 oxidoreductase activity GO:0016491 9.02 HSD3B7 CYP7B1 CYP27A1 AKR1D1 AKR1C4
8 ketosteroid monooxygenase activity GO:0047086 8.96 AKR1D1 AKR1C4

Sources for Bile Acid Synthesis Defect, Congenital, 3

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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