CBAS1
MCID: BLC007
MIFTS: 41

Bile Acid Synthesis Defect, Congenital, 1 (CBAS1)

Categories: Blood diseases, Endocrine diseases, Gastrointestinal diseases, Genetic diseases, Liver diseases, Metabolic diseases, Nephrological diseases, Neuronal diseases, Rare diseases
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Aliases & Classifications for Bile Acid Synthesis Defect, Congenital, 1

MalaCards integrated aliases for Bile Acid Synthesis Defect, Congenital, 1:

Name: Bile Acid Synthesis Defect, Congenital, 1 57 43 71
Congenital Bile Acid Synthesis Defect 1 11 73 28 5 14
Cbas1 57 11 19 42 73
3-Beta-Hydroxy-Delta-5-C27-Steroid Oxidoreductase Deficiency 57 19 58 73
Congenital Bile Acid Synthesis Defect Type 1 19 42 58
Basd1 19 58
3-Alpha Beta-Hydroxy-Delta-5-C27-Steroid Oxidoreductase, Deficiency of 19
3beta-Hydroxy-Delta-5-C27-Steroid Oxidoreductase Deficiency 42
3beta-Hydroxy-Delta-5-C27-Steroid Dehydrogenase Deficiency 42
Progressive Familial Intrahepatic Cholestasis Type 4 73
Cholestasis, Progressive Familial Intrahepatic 4 71
Bile Acid Synthesis Defect, Congenital, Type 1 38
Congenital Bile Acid Synthesis Defect, Type 1 19
Neonatal Progressive Intrahepatic Cholestasis 73
3beta-Hsdh Deficiency 42
Pfic4 73

Characteristics:


Inheritance:

Bile Acid Synthesis Defect, Congenital, 1: Autosomal recessive 57
Congenital Bile Acid Synthesis Defect Type 1: Autosomal recessive 58

Age Of Onset:

Congenital Bile Acid Synthesis Defect Type 1: Infancy,Neonatal 58

Age Of Death:

Congenital Bile Acid Synthesis Defect Type 1: any age 58

OMIM®:

57 (Updated 24-Oct-2022)
Miscellaneous:
neonatal onset
favorable response to oral bile acid therapy
caused by inborn error in bile acid synthesis


Classifications:

Orphanet: 58  
Rare hepatic diseases
Inborn errors of metabolism


External Ids:

Disease Ontology 11 DOID:0111071
OMIM® 57 607765
OMIM Phenotypic Series 57 PS607765
MESH via Orphanet 44 C535442
ICD10 via Orphanet 32 K76.8
UMLS via Orphanet 72 C1843116
Orphanet 58 ORPHA79301
MedGen 40 C1843116
UMLS 71 C1843116 C2931067

Summaries for Bile Acid Synthesis Defect, Congenital, 1

MedlinePlus Genetics: 42 Congenital bile acid synthesis defect type 1 is a disorder characterized by cholestasis, a condition that impairs the production and release of a digestive fluid called bile from liver cells. Bile is used during digestion to absorb fats and fat-soluble vitamins, such as vitamins A, D, E, and K. People with congenital bile acid synthesis defect type 1 cannot produce (synthesize) bile acids, which are a component of bile that stimulate bile flow and help it absorb fats and fat-soluble vitamins. As a result, an abnormal form of bile is produced.The signs and symptoms of congenital bile acid synthesis defect type 1 often develop during the first weeks of life, but they can begin anytime from infancy into adulthood. Affected infants often have a failure to gain weight and grow at the expected rate (failure to thrive) and yellowing of the skin and eyes (jaundice) due to impaired bile flow and a buildup of partially formed bile. Excess fat in the feces (steatorrhea) is an additional feature of congenital bile acid synthesis defect type 1. As the condition progresses, affected individuals can develop liver abnormalities including an enlarged liver (hepatomegaly), inflammation, or chronic liver disease (cirrhosis). The spleen may also become enlarged (splenomegaly). The inability to absorb certain fat-soluble vitamins (vitamin D in particular) can result in softening and weakening of the bones (rickets) in some individuals.If left untreated, congenital bile acid synthesis defect type 1 often leads to cirrhosis and death in childhood.

MalaCards based summary: Bile Acid Synthesis Defect, Congenital, 1, also known as congenital bile acid synthesis defect 1, is related to cholestasis, progressive familial intrahepatic, 4 and congenital bile acid synthesis defect, and has symptoms including diarrhea and icterus. An important gene associated with Bile Acid Synthesis Defect, Congenital, 1 is HSD3B7 (Hydroxy-Delta-5-Steroid Dehydrogenase, 3 Beta- And Steroid Delta-Isomerase 7), and among its related pathways/superpathways is Metabolism. Affiliated tissues include liver, spleen and skin, and related phenotypes are failure to thrive and hepatomegaly

OMIM®: 57 Congenital defects of bile acid synthesis are autosomal recessive disorders characterized by neonatal onset of progressive liver disease with cholestatic jaundice and malabsorption of lipids and lipid-soluble vitamins from the gastrointestinal tract resulting from a primary failure to synthesize bile acids. Affected infants show failure to thrive and secondary coagulopathy. In most forms of the disorder, there is a favorable response to oral bile acid therapy (summary by Cheng et al., 2003). (607765) (Updated 24-Oct-2022)

Disease Ontology: 11 A congenital bile acid synthesis defect characterized by progressive cholestatic liver disease, giant cell hepatitis, malabsorption of fat and fat-soluble vitamins, increased serum bilirubin and decreased serum cholesterol that has material basis in homozygous or compound heterozygous mutation in the HSD3B7 gene on chromosome 16p.

GARD: 19 Congenital bile acid synthesis defect type 1 (BAS defect type 1) is the most common anomaly of bile acid synthesis (see this term) characterized by variable manifestations of progressive cholestatic liver disease, and fat malabsorption.

Orphanet: 58 Congenital bile acid synthesis defect type 1 (BAS defect type 1) is the most common anomaly of bile acid synthesis (see this term) characterized by variable manifestations of progressive cholestatic liver disease, and fat malabsorption.

UniProtKB/Swiss-Prot: 73 A primary defect in bile synthesis leading to progressive liver disease. Clinical features include neonatal jaundice, severe intrahepatic cholestasis, cirrhosis.

Related Diseases for Bile Acid Synthesis Defect, Congenital, 1

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 Bile Acid Synthesis Defect, Congenital, 1 via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 38)
# Related Disease Score Top Affiliating Genes
1 cholestasis, progressive familial intrahepatic, 4 11.5
2 congenital bile acid synthesis defect 11.5
3 bone disease 10.5
4 rickets 10.5
5 keratomalacia 10.5
6 cholestasis 10.5
7 inherited metabolic disorder 10.5
8 cholestasis, progressive familial intrahepatic, 1 10.4
9 progressive familial intrahepatic cholestasis 10.4
10 intrahepatic cholestasis 10.4
11 familial intrahepatic cholestasis 10.4
12 hepatocellular carcinoma 10.2
13 varicose veins 10.2
14 congenital hemidysplasia with ichthyosiform erythroderma and limb defects 10.2
15 intrahepatic cholestasis of pregnancy 10.2
16 portal hypertension 10.2
17 liver cirrhosis 10.2
18 children's interstitial lung disease 10.2
19 splenomegaly 10.2
20 mitochondrial dna depletion syndrome 3 10.0 MCCC2 FBXL4
21 pyruvate dehydrogenase e1-alpha deficiency 9.9 PDHA1 FBXL4
22 mitochondrial dna depletion syndrome 7 9.8 TWNK FBXL4
23 sensory ataxic neuropathy, dysarthria, and ophthalmoparesis 9.8 TWNK FBXL4
24 mitochondrial dna depletion syndrome 4a 9.7 TWNK MT-ND5
25 urocanase deficiency 9.7 PDHA1 MT-ND5 FBXL4
26 cranial nerve disease 9.7 TWNK MT-ND5
27 myoclonic epilepsy associated with ragged-red fibers 9.7 TWNK MT-ND5
28 lactic acidosis 9.7 PDHA1 MT-ND5 FBXL4
29 early myoclonic encephalopathy 9.6 TWNK MT-ND5
30 mitochondrial metabolism disease 9.6 TWNK MT-ND5 FBXL4
31 mitochondrial dna depletion syndrome 9.6 TWNK MT-ND5 FBXL4
32 mitochondrial disease 9.6 TWNK MT-ND5
33 mitochondrial encephalomyopathy 9.6 TWNK MT-ND5 FBXL4
34 mitochondrial myopathy 9.6 TWNK MT-ND5 FBXL4
35 kearns-sayre syndrome 9.6 TWNK MT-ND5 FBXL4
36 mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes 9.6 TWNK MT-ND5 FBXL4
37 optic nerve disease 9.5 TWNK MT-ND5
38 leigh syndrome 9.3 TWNK PDHA1 MT-ND5 FBXL4

Graphical network of the top 20 diseases related to Bile Acid Synthesis Defect, Congenital, 1:



Diseases related to Bile Acid Synthesis Defect, Congenital, 1

Symptoms & Phenotypes for Bile Acid Synthesis Defect, Congenital, 1

Human phenotypes related to Bile Acid Synthesis Defect, Congenital, 1:

58 30 (show all 26)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 failure to thrive 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0001508
2 hepatomegaly 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0002240
3 malabsorption 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0002024
4 elevated hepatic transaminase 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0002910
5 jaundice 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0000952
6 biliary tract abnormality 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0001080
7 neonatal cholestatic liver disease 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0006566
8 splenomegaly 58 30 Frequent (33%) Frequent (79-30%)
HP:0001744
9 gastrointestinal hemorrhage 58 30 Frequent (33%) Frequent (79-30%)
HP:0002239
10 abnormality of coagulation 58 30 Frequent (33%) Frequent (79-30%)
HP:0001928
11 osteoporosis 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000939
12 cirrhosis 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0001394
13 nyctalopia 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000662
14 peripheral neuropathy 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0009830
15 pruritus 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000989
16 rickets 30 HP:0002748
17 hepatic failure 30 HP:0001399
18 abnormal bleeding 58 Occasional (29-5%)
19 steatorrhea 30 HP:0002570
20 hyperbilirubinemia 30 HP:0002904
21 hypocholesterolemia 30 HP:0003146
22 acholic stools 30 HP:0011985
23 diarrhea 30 HP:0002014
24 intrahepatic cholestasis 30 HP:0001406
25 abnormality of the coagulation cascade 30 HP:0003256
26 giant cell hepatitis 30 HP:0200084

Symptoms via clinical synopsis from OMIM®:

57 (Updated 24-Oct-2022)
Growth Other:
failure to thrive

Abdomen External Features:
hepatomegaly
cirrhosis
jaundice
intrahepatic cholestasis
progressive liver failure
more
Skin Nails Hair Skin:
jaundice

Laboratory Abnormalities:
abnormal liver function tests
decreased serum cholesterol
increased serum bilirubin
normal serum levels of gamma-ggt

Abdomen Spleen:
splenomegaly

Skeletal:
rickets

Abdomen Gastrointestinal:
steatorrhea
diarrhea
malabsorption of fat and fat-soluble vitamins
discolored, acholic stools

Hematology:
coagulopathy secondary to liver disease

Clinical features from OMIM®:

607765 (Updated 24-Oct-2022)

UMLS symptoms related to Bile Acid Synthesis Defect, Congenital, 1:


diarrhea; icterus

Drugs & Therapeutics for Bile Acid Synthesis Defect, Congenital, 1

Search Clinical Trials, NIH Clinical Center for Bile Acid Synthesis Defect, Congenital, 1

Cochrane evidence based reviews: bile acid synthesis defect, congenital, 1

Genetic Tests for Bile Acid Synthesis Defect, Congenital, 1

Genetic tests related to Bile Acid Synthesis Defect, Congenital, 1:

# Genetic test Affiliating Genes
1 Congenital Bile Acid Synthesis Defect 1 28 HSD3B7

Anatomical Context for Bile Acid Synthesis Defect, Congenital, 1

Organs/tissues related to Bile Acid Synthesis Defect, Congenital, 1:

MalaCards : Liver, Spleen, Skin, Bone Marrow, Bone
ODiseA: Blood And Bone Marrow, Liver

Publications for Bile Acid Synthesis Defect, Congenital, 1

Articles related to Bile Acid Synthesis Defect, Congenital, 1:

(show all 17)
# Title Authors PMID Year
1
The bile acid synthetic gene 3beta-hydroxy-Delta(5)-C(27)-steroid oxidoreductase is mutated in progressive intrahepatic cholestasis. 62 57 5
11067870 2000
2
Molecular genetics of 3beta-hydroxy-Delta5-C27-steroid oxidoreductase deficiency in 16 patients with loss of bile acid synthesis and liver disease. 57 5
12679481 2003
3
Familial giant cell hepatitis associated with synthesis of 3 beta, 7 alpha-dihydroxy-and 3 beta,7 alpha, 12 alpha-trihydroxy-5-cholenoic acids. 57 5
3470305 1987
4
A new cause of progressive intrahepatic cholestasis: 3 beta-hydroxy-C27-steroid dehydrogenase/isomerase deficiency. 57
7915305 1994
5
Bile acids and bile alcohols in a child with hepatic 3 beta-hydroxy-delta 5-C27-steroid dehydrogenase deficiency: effects of chenodeoxycholic acid treatment. 57
2072042 1991
6
Lack of 3 beta-hydroxy-delta 5-C27-steroid dehydrogenase/isomerase in fibroblasts from a child with urinary excretion of 3 beta-hydroxy-delta 5-bile acids. A new inborn error of metabolism. 57
1979336 1990
7
A new syndrome of bile acid deficiency-a possible synthetic defect. 57
4795443 1973
8
[Clinical characteristics and gene variants of patients with infantile intrahepatic cholestasis]. 62
33476544 2021
9
Two Novel Pathogenic Variants of TJP2 Gene and the Underlying Molecular Mechanisms in Progressive Familial Intrahepatic Cholestasis Type 4 Patients. 62
34504838 2021
10
The zonula occludens protein family regulates the hepatic barrier system in the murine liver. 62
33184034 2021
11
Progressive familial intrahepatic cholestasis type 4 in an Indian child: presentation, initial course and novel compound heterozygous mutation. 62
32636225 2020
12
New tight junction protein 2 variant causing progressive familial intrahepatic cholestasis type 4 in adults: A case report. 62
32089630 2020
13
Familial intrahepatic cholestasis: New and wide perspectives. 62
31105019 2019
14
Cryptogenic cholestasis in young and adults: ATP8B1, ABCB11, ABCB4, and TJP2 gene variants analysis by high-throughput sequencing. 62
29238877 2018
15
[Progressive familial intrahepatic cholestasis related to mutation of the TJP2 gene: recent advances]. 62
26983395 2016
16
Variable clinical spectrum of the most common inborn error of bile acid metabolism--3beta-hydroxy-Delta 5-C27-steroid dehydrogenase deficiency. 62
19915491 2010
17
An inborn error of bile acid synthesis (3beta-hydroxy-delta5-C27-steroid dehydrogenase deficiency) presenting as malabsorption leading to rickets. 62
10208955 1999

Variations for Bile Acid Synthesis Defect, Congenital, 1

ClinVar genetic disease variations for Bile Acid Synthesis Defect, Congenital, 1:

5 (show all 12)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 HSD3B7 NM_025193.4(HSD3B7):c.1039_1040del (p.Leu347fs) DEL Pathogenic
2881 rs397514442 GRCh37: 16:30999433-30999434
GRCh38: 16:30988112-30988113
2 HSD3B7 NM_025193.4(HSD3B7):c.294dup (p.Lys99fs) DUP Pathogenic
2882 rs397514443 GRCh37: 16:30997494-30997495
GRCh38: 16:30986173-30986174
3 HSD3B7 NM_025193.4(HSD3B7):c.322+1G>T SNV Pathogenic
2883 rs387906288 GRCh37: 16:30997526-30997526
GRCh38: 16:30986205-30986205
4 HSD3B7 NM_025193.4(HSD3B7):c.439G>A (p.Glu147Lys) SNV Pathogenic
2884 rs104894518 GRCh37: 16:30997933-30997933
GRCh38: 16:30986612-30986612
5 HSD3B7 NM_025193.4(HSD3B7):c.499G>T (p.Glu167Ter) SNV Pathogenic
1030914 rs560826820 GRCh37: 16:30997993-30997993
GRCh38: 16:30986672-30986672
6 HSD3B7 NM_025193.4(HSD3B7):c.45_46del (p.Gly17fs) DEL Pathogenic
2885 rs786200876 GRCh37: 16:30997024-30997025
GRCh38: 16:30985703-30985704
7 HSD3B7 NM_025193.4(HSD3B7):c.689A>G (p.Tyr230Cys) SNV Uncertain Significance
1339161 GRCh37: 16:30998318-30998318
GRCh38: 16:30986997-30986997
8 HSD3B7 NM_025193.4(HSD3B7):c.557C>T (p.Thr186Met) SNV Uncertain Significance
1030915 rs141929596 GRCh37: 16:30998186-30998186
GRCh38: 16:30986865-30986865
9 HSD3B7 NM_025193.4(HSD3B7):c.1031A>G (p.Tyr344Cys) SNV Uncertain Significance
1342314 GRCh37: 16:30999425-30999425
GRCh38: 16:30988104-30988104
10 HSD3B7 NM_025193.4(HSD3B7):c.682C>T (p.Arg228Trp) SNV Uncertain Significance
1687377 GRCh37: 16:30998311-30998311
GRCh38: 16:30986990-30986990
11 HSD3B7 NM_025193.4(HSD3B7):c.1068T>C (p.Arg356=) SNV Benign
261870 rs2305880 GRCh37: 16:30999462-30999462
GRCh38: 16:30988141-30988141
12 HSD3B7 NM_025193.4(HSD3B7):c.748A>G (p.Thr250Ala) SNV Benign
261873 rs9938550 GRCh37: 16:30999142-30999142
GRCh38: 16:30987821-30987821

UniProtKB/Swiss-Prot genetic disease variations for Bile Acid Synthesis Defect, Congenital, 1:

73
# Symbol AA change Variation ID SNP ID
1 HSD3B7 p.Gly19Ser VAR_054775
2 HSD3B7 p.Glu147Lys VAR_054776 rs104894518

Expression for Bile Acid Synthesis Defect, Congenital, 1

Search GEO for disease gene expression data for Bile Acid Synthesis Defect, Congenital, 1.

Pathways for Bile Acid Synthesis Defect, Congenital, 1

Pathways related to Bile Acid Synthesis Defect, Congenital, 1 according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.48 PDHA1 MT-ND5 MCCC2 HSD3B7 HSD3B1

GO Terms for Bile Acid Synthesis Defect, Congenital, 1

Cellular components related to Bile Acid Synthesis Defect, Congenital, 1 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 mitochondrial intermembrane space GO:0005758 9.46 HSD3B1 FBXL4
2 mitochondrial matrix GO:0005759 9.43 TWNK PDHA1 MCCC2
3 mitochondrion GO:0005739 9.28 TWNK PDHA1 MT-ND5 MCCC2 HSD3B1 FBXL4

Biological processes related to Bile Acid Synthesis Defect, Congenital, 1 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 steroid biosynthetic process GO:0006694 8.8 HSD3B7 HSD3B1

Molecular functions related to Bile Acid Synthesis Defect, Congenital, 1 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 oxidoreductase activity GO:0016491 9.33 PDHA1 HSD3B7 HSD3B1
2 oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor GO:0016616 9.26 HSD3B7 HSD3B1
3 3-beta-hydroxy-delta5-steroid dehydrogenase activity GO:0003854 8.92 HSD3B7 HSD3B1

Sources for Bile Acid Synthesis Defect, Congenital, 1

2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 24-Oct-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
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