MCID: BLC009
MIFTS: 29

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 54 50 29 13 42 69
Trihydroxycoprostanic Acid in Bile 12 50 71
Cbas4 12 50 71
Intrahepatic Cholestasis with Defective Conversion of Trihydroxycoprostanic Acid to Cholic Acid 12 71
Congenital Bile Acid Synthesis Defect 4 12 71
Liver Disease-Retinitis Pigmentosa-Polyneuropathy-Epilepsy Syndrome 56
Cholestasis, Intrahepatic, with Defective Conversion of 50
Congenital Bile Acid Synthesis Defect Type 4 56
Trihydroxycoprostanic Acid to Cholic Acid 50
Alpha-Methyl-Acyl-Coa Racemase Deficiency 56
Alpha-Methylacyl-Coa Racemase Deficiency 69
2-Methylacyl-Coa Racemase Deficiency 56
Amacr Deficiency 56
Basd4 56

Characteristics:

Orphanet epidemiological data:

56
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:

54
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 has symptoms including tremor, hepatomegaly and seizures. An important gene associated with Bile Acid Synthesis Defect, Congenital, 4 is AMACR (Alpha-Methylacyl-CoA Racemase). The drugs Alpha 1-Antitrypsin and Protein C Inhibitor have been mentioned in the context of this disorder. 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:

id Related Disease Score Top Affiliating Genes
1 alpha-methylacyl-coa racemase deficiency 11.8

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

Symptoms via clinical synopsis from OMIM:

54

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:
decreased serum cholesterol
hyperbilirubinemia
abnormal liver function tests
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:

56 32 (show all 22)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 tremor 56 32 occasional (7.5%) Occasional (29-5%) HP:0001337
2 hepatomegaly 56 32 occasional (7.5%) Occasional (29-5%) HP:0002240
3 seizures 56 32 occasional (7.5%) Occasional (29-5%) HP:0001250
4 peripheral neuropathy 56 32 frequent (33%) Frequent (79-30%) HP:0009830
5 encephalopathy 56 32 occasional (7.5%) Occasional (29-5%) HP:0001298
6 frontal bossing 56 32 occasional (7.5%) Occasional (29-5%) HP:0002007
7 cirrhosis 56 32 occasional (7.5%) Occasional (29-5%) HP:0001394
8 cholestasis 56 32 frequent (33%) Frequent (79-30%) HP:0001396
9 epicanthus 56 32 occasional (7.5%) Occasional (29-5%) HP:0000286
10 fat malabsorption 56 32 frequent (33%) Frequent (79-30%) HP:0002630
11 type ii diabetes mellitus 56 32 hallmark (90%) Very frequent (99-80%) HP:0005978
12 bilateral single transverse palmar creases 56 32 occasional (7.5%) Occasional (29-5%) HP:0007598
13 biliary tract abnormality 56 32 hallmark (90%) Very frequent (99-80%) HP:0001080
14 iris hypopigmentation 56 32 occasional (7.5%) Occasional (29-5%) HP:0007730
15 failure to thrive 32 HP:0001508
16 hyperbilirubinemia 32 HP:0002904
17 hepatic failure 32 HP:0001399
18 intrahepatic cholestasis 32 HP:0001406
19 prolonged neonatal jaundice 32 HP:0006579
20 giant cell hepatitis 32 HP:0200084
21 elevated hepatic transaminases 32 HP:0002910
22 abnormality of the coagulation cascade 32 HP:0003256

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


icterus, muscle spasticity, seizures

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

Drugs for Bile Acid Synthesis Defect, Congenital, 4 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):


id Name Status Phase Clinical Trials Cas Number PubChem Id
1 Alpha 1-Antitrypsin
2 Protein C Inhibitor
3 Liver Extracts
4 Bile Acids and Salts

Interventional clinical trials:


id Name Status NCT ID Phase Drugs
1 Evaluating the Genetic Causes and Progression of Cholestatic Liver Diseases (LOGIC) Recruiting NCT00571272

Search 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:

id Genetic test Affiliating Genes
1 Bile Acid Synthesis Defect, Congenital, 4 29

Anatomical Context for Bile Acid Synthesis Defect, Congenital, 4

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

39
Liver, Testes

Publications for Bile Acid Synthesis Defect, Congenital, 4

Variations for Bile Acid Synthesis Defect, Congenital, 4

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

71
id 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
id 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
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 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 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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