MCID: BLC009
MIFTS: 28

Bile Acid Synthesis Defect, Congenital, 4

Categories: Genetic diseases, Rare diseases, Liver diseases, Neuronal diseases, Metabolic 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 53 49 28 13 41 69
Trihydroxycoprostanic Acid in Bile 53 12 49 71
Cbas4 53 12 49 71
Intrahepatic Cholestasis with Defective Conversion of Trihydroxycoprostanic Acid to Cholic Acid 12 71
Congenital Bile Acid Synthesis Defect 4 12 71
Cholestasis, Intrahepatic, with Defective Conversion of Trihydroxycoprostanic Acid to Cholic Acid 53
Liver Disease-Retinitis Pigmentosa-Polyneuropathy-Epilepsy Syndrome 55
Cholestasis, Intrahepatic, with Defective Conversion of 49
Congenital Bile Acid Synthesis Defect Type 4 55
Trihydroxycoprostanic Acid to Cholic Acid 49
Alpha-Methyl-Acyl-Coa Racemase Deficiency 55
Alpha-Methylacyl-Coa Racemase Deficiency 69
2-Methylacyl-Coa Racemase Deficiency 55
Amacr Deficiency 55
Basd4 55

Characteristics:

Orphanet epidemiological data:

55
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:

53
Inheritance:
autosomal recessive

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


HPO:

31
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 hemorrhagic disease, and has symptoms including seizures, tremor and frontal bossing. An important gene associated with Bile Acid Synthesis Defect, Congenital, 4 is AMACR (Alpha-Methylacyl-CoA Racemase). Affiliated tissues include liver and testes.

UniProtKB/Swiss-Prot : 71 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 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 11.9
2 vitamin k deficiency hemorrhagic disease 10.3

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

Symptoms via clinical synopsis from OMIM:

53
Growth Other:
failure to thrive

Skin Nails Hair Skin:
jaundice

Abdomen Gastroin testinal:
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

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

55 31 (show all 22)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 seizures 55 31 occasional (7.5%) Occasional (29-5%) HP:0001250
2 tremor 55 31 occasional (7.5%) Occasional (29-5%) HP:0001337
3 frontal bossing 55 31 occasional (7.5%) Occasional (29-5%) HP:0002007
4 hepatomegaly 55 31 occasional (7.5%) Occasional (29-5%) HP:0002240
5 type ii diabetes mellitus 55 31 hallmark (90%) Very frequent (99-80%) HP:0005978
6 peripheral neuropathy 55 31 frequent (33%) Frequent (79-30%) HP:0009830
7 epicanthus 55 31 occasional (7.5%) Occasional (29-5%) HP:0000286
8 cirrhosis 55 31 occasional (7.5%) Occasional (29-5%) HP:0001394
9 biliary tract abnormality 55 31 hallmark (90%) Very frequent (99-80%) HP:0001080
10 bilateral single transverse palmar creases 55 31 occasional (7.5%) Occasional (29-5%) HP:0007598
11 cholestasis 55 31 frequent (33%) Frequent (79-30%) HP:0001396
12 iris hypopigmentation 55 31 occasional (7.5%) Occasional (29-5%) HP:0007730
13 encephalopathy 55 31 occasional (7.5%) Occasional (29-5%) HP:0001298
14 fat malabsorption 55 31 frequent (33%) Frequent (79-30%) HP:0002630
15 failure to thrive 31 HP:0001508
16 elevated hepatic transaminases 31 HP:0002910
17 hepatic failure 31 HP:0001399
18 hyperbilirubinemia 31 HP:0002904
19 prolonged neonatal jaundice 31 HP:0006579
20 intrahepatic cholestasis 31 HP:0001406
21 abnormality of the coagulation cascade 31 HP:0003256
22 giant cell hepatitis 31 HP:0200084

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


icterus, muscle spasticity, seizures

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 28 AMACR

Anatomical Context for Bile Acid Synthesis Defect, Congenital, 4

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

38
Liver, Testes

Publications for Bile Acid Synthesis Defect, Congenital, 4

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

# Title Authors Year
1
An adult onset case of alpha-methyl-acyl-CoA racemase deficiency. ( 20821052 )
2010

Variations for Bile Acid Synthesis Defect, Congenital, 4

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

71
# 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.320T> C (p.Leu107Pro) single nucleotide variant Pathogenic rs121917816 GRCh37 Chromosome 5, 34005932: 34005932

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
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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