CBAS3
MCID: BLC011
MIFTS: 36

Bile Acid Synthesis Defect, Congenital, 3 (CBAS3)

Categories: 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 58 30 13 6 45 74
Congenital Bile Acid Synthesis Defect 3 12 76 15
Cbas3 58 12 76
Oxysterol 7-Alpha-Hydroxylase Deficiency 12 60
Bile Acid Synthesis Defect, Congenital, Type 3 41
Congenital Bile Acid Synthesis Defect Type 3 60
Basd3 60

Characteristics:

Orphanet epidemiological data:

60
congenital bile acid synthesis defect type 3
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM:

58
Inheritance:
autosomal recessive

Miscellaneous:
neonatal onset
caused by inborn error in bile acid synthesis
one patient has been reported (as of march 2011)


HPO:

33
bile acid synthesis defect, congenital, 3:
Onset and clinical course neonatal onset
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Bile Acid Synthesis Defect, Congenital, 3

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.

MalaCards based summary : Bile Acid Synthesis Defect, Congenital, 3, also known as congenital bile acid synthesis defect 3, is related to congenital bile acid synthesis defect and intrahepatic cholestasis of pregnancy, 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 testes, and related phenotypes are splenomegaly and hepatomegaly

UniProtKB/Swiss-Prot : 76 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.

Description from OMIM: 613812

Related Diseases for Bile Acid Synthesis Defect, Congenital, 3

Diseases in the Congenital Bile Acid Synthesis Defect 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

Diseases related to Bile Acid Synthesis Defect, Congenital, 3 via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 congenital bile acid synthesis defect 9.8 AKR1D1 CYP7B1
2 intrahepatic cholestasis of pregnancy 9.7 CYP7B1 NR1H4
3 cerebrotendinous xanthomatosis 9.6 CYP27A1 NR1H4

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

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

60 33 (show all 20)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 splenomegaly 60 33 hallmark (90%) Very frequent (99-80%) HP:0001744
2 hepatomegaly 60 33 hallmark (90%) Very frequent (99-80%) HP:0002240
3 elevated hepatic transaminase 60 33 hallmark (90%) Very frequent (99-80%) HP:0002910
4 jaundice 60 33 hallmark (90%) Very frequent (99-80%) HP:0000952
5 biliary tract abnormality 60 33 hallmark (90%) Very frequent (99-80%) HP:0001080
6 congenital hepatic fibrosis 60 33 hallmark (90%) Very frequent (99-80%) HP:0002612
7 hepatic failure 60 33 hallmark (90%) Very frequent (99-80%) HP:0001399
8 abnormality of coagulation 60 33 hallmark (90%) Very frequent (99-80%) HP:0001928
9 neonatal cholestatic liver disease 60 33 hallmark (90%) Very frequent (99-80%) HP:0006566
10 pruritus 60 33 frequent (33%) Frequent (79-30%) HP:0000989
11 gastrointestinal hemorrhage 60 33 frequent (33%) Frequent (79-30%) HP:0002239
12 failure to thrive 60 33 occasional (7.5%) Occasional (29-5%) HP:0001508
13 hepatitis 33 HP:0012115
14 cirrhosis 33 HP:0001394
15 diarrhea 33 HP:0002014
16 acholic stools 33 HP:0011985
17 abnormality of the coagulation cascade 33 HP:0003256
18 intrahepatic cholestasis 33 HP:0001406
19 elevated alkaline phosphatase 33 HP:0003155
20 steatorrhea 33 HP:0002570

Symptoms via clinical synopsis from OMIM:

58
Growth Other:
failure to thrive

Abdomen External Features:
hepatomegaly
cirrhosis
jaundice
intrahepatic cholestasis
fibrosis seen on biopsy
more
Abdomen Gastrointestinal:
diarrhea
steatorrhea
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

Clinical features from OMIM:

613812

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


diarrhea, icterus

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

27
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased shRNA abundance (Z-score < -2) GR00366-A-134 9.32 AKR1D1 NR1H4
2 Decreased shRNA abundance (Z-score < -2) GR00366-A-145 9.32 AKR1D1
3 Decreased shRNA abundance (Z-score < -2) GR00366-A-15 9.32 AKR1D1
4 Decreased shRNA abundance (Z-score < -2) GR00366-A-200 9.32 AKR1D1
5 Decreased shRNA abundance (Z-score < -2) GR00366-A-203 9.32 AKR1D1
6 Decreased shRNA abundance (Z-score < -2) GR00366-A-40 9.32 NR1H4
7 Decreased shRNA abundance (Z-score < -2) GR00366-A-48 9.32 NR1H4
8 Decreased shRNA abundance (Z-score < -2) GR00366-A-87 9.32 AKR1D1
9 Decreased shRNA abundance (Z-score < -2) GR00366-A-91 9.32 AKR1D1

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 30 CYP7B1

Anatomical Context for Bile Acid Synthesis Defect, Congenital, 3

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

42
Liver, Testes

Publications for Bile Acid Synthesis Defect, Congenital, 3

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

# Title Authors Year
1
Sequence alterations within CYP7B1 implicate defective cholesterol homeostasis in motor-neuron degeneration. ( 18252231 )
2008
2
Identification of a new inborn error in bile acid synthesis: mutation of the oxysterol 7alpha-hydroxylase gene causes severe neonatal liver disease. ( 9802883 )
1998

Variations for Bile Acid Synthesis Defect, Congenital, 3

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

6
# Gene Variation Type Significance SNP ID Assembly Location
1 CYP7B1 NM_004820.4(CYP7B1): c.1162C> T (p.Arg388Ter) single nucleotide variant Pathogenic rs72554620 GRCh37 Chromosome 8, 65517310: 65517310
2 CYP7B1 NM_004820.4(CYP7B1): c.1162C> T (p.Arg388Ter) single nucleotide variant Pathogenic rs72554620 GRCh38 Chromosome 8, 64604753: 64604753

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
13.2 AKR1D1 CYP27A1 CYP7B1 NR1H4
2
Show member pathways
12.26 AKR1D1 CYP27A1 CYP7B1 NR1H4
3
Show member pathways
11.17 AKR1D1 CYP27A1 CYP7B1 NR1H4
4
Show member pathways
10.98 AKR1D1 CYP7B1

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 oxidation-reduction process GO:0055114 9.5 AKR1D1 CYP27A1 CYP7B1
2 steroid metabolic process GO:0008202 9.37 AKR1D1 CYP7B1
3 lipid metabolic process GO:0006629 9.33 AKR1D1 CYP7B1 NR1H4
4 cholesterol homeostasis GO:0042632 9.26 CYP7B1 NR1H4
5 sterol metabolic process GO:0016125 8.96 CYP27A1 CYP7B1
6 bile acid biosynthetic process GO:0006699 8.8 AKR1D1 CYP27A1 CYP7B1

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

# Name GO ID Score Top Affiliating Genes
1 heme binding GO:0020037 9.26 CYP27A1 CYP7B1
2 iron ion binding GO:0005506 9.16 CYP27A1 CYP7B1
3 oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen GO:0016705 8.96 CYP27A1 CYP7B1
4 oxidoreductase activity GO:0016491 8.8 AKR1D1 CYP27A1 CYP7B1

Sources for Bile Acid Synthesis Defect, Congenital, 3

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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