CBAS4
MCID: BLC009
MIFTS: 29

Bile Acid Synthesis Defect, Congenital, 4 (CBAS4)

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, 4

MalaCards integrated aliases for Bile Acid Synthesis Defect, Congenital, 4:

Name: Bile Acid Synthesis Defect, Congenital, 4 58 54 30 13 6 45 74
Trihydroxycoprostanic Acid in Bile 58 12 54 76
Cbas4 58 12 54 76
Intrahepatic Cholestasis with Defective Conversion of Trihydroxycoprostanic Acid to Cholic Acid 12 76
Congenital Bile Acid Synthesis Defect 4 12 76
Cholestasis, Intrahepatic, with Defective Conversion of Trihydroxycoprostanic Acid to Cholic Acid 58
Liver Disease-Retinitis Pigmentosa-Polyneuropathy-Epilepsy Syndrome 60
Cholestasis, Intrahepatic, with Defective Conversion of 54
Bile Acid Synthesis Defect, Congenital, Type 4 41
Congenital Bile Acid Synthesis Defect Type 4 60
Trihydroxycoprostanic Acid to Cholic Acid 54
Alpha-Methyl-Acyl-Coa Racemase Deficiency 60
Alpha-Methylacyl-Coa Racemase Deficiency 74
2-Methylacyl-Coa Racemase Deficiency 60
Amacr Deficiency 60
Basd4 60

Characteristics:

Orphanet epidemiological data:

60
congenital bile acid synthesis defect type 4
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: All ages; Age of death: normal life expectancy;

OMIM:

58
Inheritance:
autosomal recessive

Miscellaneous:
neonatal onset
favorable response to oral bile acid therapy
caused by inborn error in bile acid synthesis


HPO:

33
bile acid synthesis defect, congenital, 4:
Onset and clinical course neonatal onset
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Bile Acid Synthesis Defect, Congenital, 4

Disease Ontology : 12 A congenital bile acid synthesis defect characterized by intrahepatic cholestasis, malabsorption of fat and fat-soluble vitamins, decreased serum cholesterol, and increased levels of THCA in bile, serum and urine that has material basis in homozygous mutation in the AMACR gene on chromosome 5p13.

MalaCards based summary : Bile Acid Synthesis Defect, Congenital, 4, also known as trihydroxycoprostanic acid in bile, is related to alpha-methylacyl-coa racemase deficiency and vitamin k deficiency bleeding, and has symptoms including seizures, icterus and muscle spasticity. An important gene associated with Bile Acid Synthesis Defect, Congenital, 4 is AMACR (Alpha-Methylacyl-CoA Racemase). Affiliated tissues include liver and testes, and related phenotypes are type ii diabetes mellitus and biliary tract abnormality

UniProtKB/Swiss-Prot : 76 Congenital bile acid synthesis defect 4: A disorder characterized by the presence of trihydroxycoprostanic acid in the bile and absence of cholic acid. Patients manifest neonatal jaundice, intrahepatic cholestasis and bile duct deficiency.

Description from OMIM: 214950

Related Diseases for Bile Acid Synthesis Defect, Congenital, 4

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, 4 via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 alpha-methylacyl-coa racemase deficiency 32.4 AMACR C1QTNF3-AMACR
2 vitamin k deficiency bleeding 10.4
3 biliary atresia 10.2

Symptoms & Phenotypes for Bile Acid Synthesis Defect, Congenital, 4

Human phenotypes related to Bile Acid Synthesis Defect, Congenital, 4:

60 33 (show all 22)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 type ii diabetes mellitus 60 33 hallmark (90%) Very frequent (99-80%) HP:0005978
2 biliary tract abnormality 60 33 hallmark (90%) Very frequent (99-80%) HP:0001080
3 peripheral neuropathy 60 33 frequent (33%) Frequent (79-30%) HP:0009830
4 cholestasis 60 33 frequent (33%) Frequent (79-30%) HP:0001396
5 fat malabsorption 60 33 frequent (33%) Frequent (79-30%) HP:0002630
6 frontal bossing 60 33 occasional (7.5%) Occasional (29-5%) HP:0002007
7 seizures 60 33 occasional (7.5%) Occasional (29-5%) HP:0001250
8 tremor 60 33 occasional (7.5%) Occasional (29-5%) HP:0001337
9 hepatomegaly 60 33 occasional (7.5%) Occasional (29-5%) HP:0002240
10 epicanthus 60 33 occasional (7.5%) Occasional (29-5%) HP:0000286
11 cirrhosis 60 33 occasional (7.5%) Occasional (29-5%) HP:0001394
12 bilateral single transverse palmar creases 60 33 occasional (7.5%) Occasional (29-5%) HP:0007598
13 iris hypopigmentation 60 33 occasional (7.5%) Occasional (29-5%) HP:0007730
14 encephalopathy 60 33 occasional (7.5%) Occasional (29-5%) HP:0001298
15 failure to thrive 33 HP:0001508
16 hepatic failure 33 HP:0001399
17 hyperbilirubinemia 33 HP:0002904
18 prolonged neonatal jaundice 33 HP:0006579
19 abnormality of the coagulation cascade 33 HP:0003256
20 intrahepatic cholestasis 33 HP:0001406
21 giant cell hepatitis 33 HP:0200084
22 elevated hepatic transaminase 33 HP:0002910

Symptoms via clinical synopsis from OMIM:

58
Growth Other:
failure to thrive

Skin Nails Hair Skin:
jaundice

Abdomen Gastrointestinal:
malabsorption of fat and fat-soluble vitamins

Abdomen External Features:
hepatomegaly
jaundice
intrahepatic cholestasis
giant cell hepatitis on biopsy
nonspecific inflammation on biopsy
more
Laboratory Abnormalities:
hyperbilirubinemia
abnormal liver function tests
decreased serum cholesterol
increased levels of 3-alpha-7-alpha-12-alpha-trihydroxy-5-beta-cholestanoic acid (thca) in bile, urine, and serum

Hematology:
coagulopathy secondary to liver disease

Clinical features from OMIM:

214950

UMLS symptoms related to Bile Acid Synthesis Defect, Congenital, 4:


seizures, icterus, muscle spasticity

Drugs & Therapeutics for Bile Acid Synthesis Defect, Congenital, 4

Search Clinical Trials , NIH Clinical Center for Bile Acid Synthesis Defect, Congenital, 4

Cochrane evidence based reviews: bile acid synthesis defect, congenital, 4

Genetic Tests for Bile Acid Synthesis Defect, Congenital, 4

Genetic tests related to Bile Acid Synthesis Defect, Congenital, 4:

# Genetic test Affiliating Genes
1 Bile Acid Synthesis Defect, Congenital, 4 30 AMACR

Anatomical Context for Bile Acid Synthesis Defect, Congenital, 4

MalaCards organs/tissues related to Bile Acid Synthesis Defect, Congenital, 4:

42
Liver, Testes

Publications for Bile Acid Synthesis Defect, Congenital, 4

Articles related to Bile Acid Synthesis Defect, Congenital, 4:

# Title Authors Year
1
Increased trihydroxycoprostanic acid in bile in familial intrahepatic biliary atresia. ( 4698430 )
1973

Variations for Bile Acid Synthesis Defect, Congenital, 4

UniProtKB/Swiss-Prot genetic disease variations for Bile Acid Synthesis Defect, Congenital, 4:

76
# Symbol AA change Variation ID SNP ID
1 AMACR p.Ser52Pro VAR_010661 rs121917814
2 AMACR p.Leu107Pro VAR_010665 rs121917816

ClinVar genetic disease variations for Bile Acid Synthesis Defect, Congenital, 4:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 AMACR NM_014324.5(AMACR): c.154T> C (p.Ser52Pro) single nucleotide variant Pathogenic rs121917814 GRCh37 Chromosome 5, 34007971: 34007971
2 AMACR NM_014324.5(AMACR): c.154T> C (p.Ser52Pro) single nucleotide variant Pathogenic rs121917814 GRCh38 Chromosome 5, 34007866: 34007866
3 AMACR NM_014324.5(AMACR): c.320T> C (p.Leu107Pro) single nucleotide variant Pathogenic rs121917816 GRCh37 Chromosome 5, 34005932: 34005932
4 AMACR NM_014324.5(AMACR): c.320T> C (p.Leu107Pro) single nucleotide variant Pathogenic rs121917816 GRCh38 Chromosome 5, 34005827: 34005827

Expression for Bile Acid Synthesis Defect, Congenital, 4

Search GEO for disease gene expression data for Bile Acid Synthesis Defect, Congenital, 4.

Pathways for Bile Acid Synthesis Defect, Congenital, 4

GO Terms for Bile Acid Synthesis Defect, Congenital, 4

Sources for Bile Acid Synthesis Defect, Congenital, 4

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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