MCID: BLC009
MIFTS: 28

Bile Acid Synthesis Defect, Congenital, 4

Categories: Genetic diseases, Rare diseases, Neuronal diseases, Liver 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 57 53 29 13 6 44 73
Trihydroxycoprostanic Acid in Bile 57 12 53 75
Cbas4 57 12 53 75
Intrahepatic Cholestasis with Defective Conversion of Trihydroxycoprostanic Acid to Cholic Acid 12 75
Congenital Bile Acid Synthesis Defect 4 12 75
Cholestasis, Intrahepatic, with Defective Conversion of Trihydroxycoprostanic Acid to Cholic Acid 57
Liver Disease-Retinitis Pigmentosa-Polyneuropathy-Epilepsy Syndrome 59
Cholestasis, Intrahepatic, with Defective Conversion of 53
Bile Acid Synthesis Defect, Congenital, Type 4 40
Congenital Bile Acid Synthesis Defect Type 4 59
Trihydroxycoprostanic Acid to Cholic Acid 53
Alpha-Methyl-Acyl-Coa Racemase Deficiency 59
Alpha-Methylacyl-Coa Racemase Deficiency 73
2-Methylacyl-Coa Racemase Deficiency 59
Amacr Deficiency 59
Basd4 59

Characteristics:

Orphanet epidemiological data:

59
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:

57
Inheritance:
autosomal recessive

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


HPO:

32
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 icterus, muscle spasticity and seizures. 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 epicanthus and biliary tract abnormality

UniProtKB/Swiss-Prot : 75 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 31.4 AMACR C1QTNF3-AMACR
2 vitamin k deficiency hemorrhagic disease 10.3

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

Symptoms via clinical synopsis from OMIM:

57
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

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

59 32 (show all 22)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 epicanthus 59 32 occasional (7.5%) Occasional (29-5%) HP:0000286
2 biliary tract abnormality 59 32 hallmark (90%) Very frequent (99-80%) HP:0001080
3 seizures 59 32 occasional (7.5%) Occasional (29-5%) HP:0001250
4 encephalopathy 59 32 occasional (7.5%) Occasional (29-5%) HP:0001298
5 tremor 59 32 occasional (7.5%) Occasional (29-5%) HP:0001337
6 cirrhosis 59 32 occasional (7.5%) Occasional (29-5%) HP:0001394
7 cholestasis 59 32 frequent (33%) Frequent (79-30%) HP:0001396
8 frontal bossing 59 32 occasional (7.5%) Occasional (29-5%) HP:0002007
9 hepatomegaly 59 32 occasional (7.5%) Occasional (29-5%) HP:0002240
10 fat malabsorption 59 32 frequent (33%) Frequent (79-30%) HP:0002630
11 type ii diabetes mellitus 59 32 hallmark (90%) Very frequent (99-80%) HP:0005978
12 bilateral single transverse palmar creases 59 32 occasional (7.5%) Occasional (29-5%) HP:0007598
13 iris hypopigmentation 59 32 occasional (7.5%) Occasional (29-5%) HP:0007730
14 peripheral neuropathy 59 32 frequent (33%) Frequent (79-30%) HP:0009830
15 hepatic failure 32 HP:0001399
16 intrahepatic cholestasis 32 HP:0001406
17 failure to thrive 32 HP:0001508
18 hyperbilirubinemia 32 HP:0002904
19 elevated hepatic transaminases 32 HP:0002910
20 abnormality of the coagulation cascade 32 HP:0003256
21 prolonged neonatal jaundice 32 HP:0006579
22 giant cell hepatitis 32 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 29 AMACR

Anatomical Context for Bile Acid Synthesis Defect, Congenital, 4

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

41
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:

75
# 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 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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