CBAS4
MCID: BLC009
MIFTS: 34

Bile Acid Synthesis Defect, Congenital, 4 (CBAS4)

Categories: Blood diseases, 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 57 20 13 44 70
Congenital Bile Acid Synthesis Defect 4 12 72 29 6
Trihydroxycoprostanic Acid in Bile 57 12 20 72
Cbas4 57 12 20 72
Intrahepatic Cholestasis with Defective Conversion of Trihydroxycoprostanic Acid to Cholic Acid 12 72
Cholestasis, Intrahepatic, with Defective Conversion of Trihydroxycoprostanic Acid to Cholic Acid 57
Liver Disease-Retinitis Pigmentosa-Polyneuropathy-Epilepsy Syndrome 58
Cholestasis, Intrahepatic, with Defective Conversion of 20
Bile Acid Synthesis Defect, Congenital, Type 4 39
Congenital Bile Acid Synthesis Defect Type 4 58
Trihydroxycoprostanic Acid to Cholic Acid 20
Alpha-Methyl-Acyl-Coa Racemase Deficiency 58
Alpha-Methylacyl-Coa Racemase Deficiency 70
2-Methylacyl-Coa Racemase Deficiency 58
Amacr Deficiency 58
Basd4 58

Characteristics:

Orphanet epidemiological data:

58
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 (Updated 20-May-2021)
Miscellaneous:
neonatal onset
favorable response to oral bile acid therapy
caused by inborn error in bile acid synthesis

Inheritance:
autosomal recessive


HPO:

31
bile acid synthesis defect, congenital, 4:
Inheritance autosomal recessive inheritance
Onset and clinical course neonatal onset


Classifications:

Orphanet: 58  
Rare neurological diseases
Rare hepatic diseases
Inborn errors of metabolism


External Ids:

Disease Ontology 12 DOID:0111068
OMIM® 57 214950
OMIM Phenotypic Series 57 PS607765
MESH via Orphanet 45 C535444
ICD10 via Orphanet 33 K76.8
UMLS via Orphanet 71 C1858328 C3280428
Orphanet 58 ORPHA79095
MedGen 41 C1858328
UMLS 70 C1858328 C3280428

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 congenital bile acid synthesis defect 4, is related to alpha-methylacyl-coa racemase deficiency and cholestasis, 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 related phenotypes are type ii diabetes mellitus and biliary tract abnormality

UniProtKB/Swiss-Prot : 72 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.

More information from OMIM: 214950 PS607765

Related Diseases for Bile Acid Synthesis Defect, Congenital, 4

Graphical network of the top 20 diseases related to Bile Acid Synthesis Defect, Congenital, 4:



Diseases related to Bile Acid Synthesis Defect, Congenital, 4

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

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

58 31 (show all 23)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 type ii diabetes mellitus 58 31 hallmark (90%) Very frequent (99-80%) HP:0005978
2 biliary tract abnormality 58 31 hallmark (90%) Very frequent (99-80%) HP:0001080
3 peripheral neuropathy 58 31 frequent (33%) Frequent (79-30%) HP:0009830
4 cholestasis 58 31 frequent (33%) Frequent (79-30%) HP:0001396
5 fat malabsorption 58 31 frequent (33%) Frequent (79-30%) HP:0002630
6 frontal bossing 58 31 occasional (7.5%) Occasional (29-5%) HP:0002007
7 tremor 58 31 occasional (7.5%) Occasional (29-5%) HP:0001337
8 hepatomegaly 58 31 occasional (7.5%) Occasional (29-5%) HP:0002240
9 epicanthus 58 31 occasional (7.5%) Occasional (29-5%) HP:0000286
10 cirrhosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0001394
11 bilateral single transverse palmar creases 58 31 occasional (7.5%) Occasional (29-5%) HP:0007598
12 iris hypopigmentation 58 31 occasional (7.5%) Occasional (29-5%) HP:0007730
13 encephalopathy 58 31 occasional (7.5%) Occasional (29-5%) HP:0001298
14 seizure 31 occasional (7.5%) HP:0001250
15 seizures 58 Occasional (29-5%)
16 failure to thrive 31 HP:0001508
17 elevated hepatic transaminase 31 HP:0002910
18 hepatic failure 31 HP:0001399
19 hyperbilirubinemia 31 HP:0002904
20 prolonged neonatal jaundice 31 HP:0006579
21 intrahepatic cholestasis 31 HP:0001406
22 abnormality of the coagulation cascade 31 HP:0003256
23 giant cell hepatitis 31 HP:0200084

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
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 (Updated 20-May-2021)

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 Congenital Bile Acid Synthesis Defect 4 29 AMACR

Anatomical Context for Bile Acid Synthesis Defect, Congenital, 4

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

40
Liver

Publications for Bile Acid Synthesis Defect, Congenital, 4

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

(show all 12)
# Title Authors PMID Year
1
Liver disease caused by failure to racemize trihydroxycholestanoic acid: gene mutation and effect of bile acid therapy. 6 57
12512044 2003
2
Mutations in the gene encoding peroxisomal alpha-methylacyl-CoA racemase cause adult-onset sensory motor neuropathy. 6 57
10655068 2000
3
Niemann-Pick disease type C and defective peroxisomal beta-oxidation of branched-chain substrates. 6 57
9584266 1998
4
AMACR mutations cause late-onset autosomal recessive cerebellar ataxia. 6
21576695 2011
5
An adult onset case of alpha-methyl-acyl-CoA racemase deficiency. 6
20821052 2010
6
Relapsing encephalopathy in a patient with alpha-methylacyl-CoA racemase deficiency. 6
18032455 2008
7
Tremor and deep white matter changes in alpha-methylacyl-CoA racemase deficiency. 6
15249642 2004
8
Fibroblast studies documenting a case of peroxisomal 2-methylacyl-CoA racemase deficiency: possible link between racemase deficiency and malabsorption and vitamin K deficiency. 57
11473573 2001
9
Bile acid synthetic defects and liver disease. 57
10594127 2000
10
The metabolism of 3alpha, 7alpha, 12alpha-trihydorxy-5beta-cholestan-26-oic acid in two siblings with cholestasis due to intrahepatic bile duct anomalies. An apparent inborn error of cholic acid synthesis. 57
1159074 1975
11
Trihydroxycoprostanic acid in the duodenal fluid of two children with intrahepatic bile duct anomalies. 57
5064535 1972
12
Increased trihydroxycoprostanic acid in bile in familial intrahepatic biliary atresia. 61
4698430 1973

Variations for Bile Acid Synthesis Defect, Congenital, 4

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

6 (show top 50) (show all 90)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 C1QTNF3-AMACR , AMACR NM_014324.6(AMACR):c.154T>C (p.Ser52Pro) SNV Pathogenic 5523 rs121917814 GRCh37: 5:34007971-34007971
GRCh38: 5:34007866-34007866
2 C1QTNF3-AMACR , AMACR NM_014324.6(AMACR):c.154T>C (p.Ser52Pro) SNV Pathogenic 5523 rs121917814 GRCh37: 5:34007971-34007971
GRCh38: 5:34007866-34007866
3 C1QTNF3-AMACR , AMACR NM_014324.6(AMACR):c.320T>C (p.Leu107Pro) SNV Pathogenic 5524 rs121917816 GRCh37: 5:34005932-34005932
GRCh38: 5:34005827-34005827
4 C1QTNF3-AMACR , AMACR NM_014324.6(AMACR):c.*1181G>A SNV Uncertain significance 353235 rs886060526 GRCh37: 5:33988017-33988017
GRCh38: 5:33987912-33987912
5 AMACR , C1QTNF3-AMACR NM_014324.5(AMACR):c.-70G>A SNV Uncertain significance 353258 rs563347179 GRCh37: 5:34008194-34008194
GRCh38: 5:34008089-34008089
6 C1QTNF3-AMACR , AMACR NM_014324.6(AMACR):c.*540T>C SNV Uncertain significance 353247 rs146385238 GRCh37: 5:33988658-33988658
GRCh38: 5:33988553-33988553
7 C1QTNF3-AMACR , AMACR NM_014324.6(AMACR):c.*2093A>G SNV Uncertain significance 353221 rs886060521 GRCh37: 5:33987105-33987105
GRCh38: 5:33987000-33987000
8 C1QTNF3-AMACR , AMACR NM_014324.6(AMACR):c.*1853G>A SNV Uncertain significance 353227 rs886060522 GRCh37: 5:33987345-33987345
GRCh38: 5:33987240-33987240
9 C1QTNF3-AMACR , AMACR NM_014324.6(AMACR):c.*1367T>C SNV Uncertain significance 353233 rs752473789 GRCh37: 5:33987831-33987831
GRCh38: 5:33987726-33987726
10 C1QTNF3-AMACR , AMACR NM_014324.6(AMACR):c.740-5C>G SNV Uncertain significance 353253 rs770927461 GRCh37: 5:33989612-33989612
GRCh38: 5:33989507-33989507
11 C1QTNF3-AMACR , AMACR NM_014324.6(AMACR):c.48G>A (p.Pro16=) SNV Uncertain significance 353256 rs144271819 GRCh37: 5:34008077-34008077
GRCh38: 5:34007972-34007972
12 C1QTNF3-AMACR , AMACR NM_014324.6(AMACR):c.*1643T>C SNV Uncertain significance 353230 rs537161888 GRCh37: 5:33987555-33987555
GRCh38: 5:33987450-33987450
13 C1QTNF3-AMACR , AMACR NM_014324.6(AMACR):c.*2088A>T SNV Uncertain significance 353222 rs182361997 GRCh37: 5:33987110-33987110
GRCh38: 5:33987005-33987005
14 C1QTNF3-AMACR , AMACR NM_014324.6(AMACR):c.*1178G>A SNV Uncertain significance 353236 rs886060527 GRCh37: 5:33988020-33988020
GRCh38: 5:33987915-33987915
15 C1QTNF3-AMACR , AMACR NM_014324.6(AMACR):c.*1622T>C SNV Uncertain significance 353231 rs886060523 GRCh37: 5:33987576-33987576
GRCh38: 5:33987471-33987471
16 C1QTNF3-AMACR , AMACR NM_014324.6(AMACR):c.*1353G>A SNV Uncertain significance 353234 rs886060525 GRCh37: 5:33987845-33987845
GRCh38: 5:33987740-33987740
17 C1QTNF3-AMACR , AMACR NM_014324.6(AMACR):c.937G>A (p.Gly313Ser) SNV Uncertain significance 353251 rs886060529 GRCh37: 5:33989410-33989410
GRCh38: 5:33989305-33989305
18 AMACR , C1QTNF3-AMACR NM_014324.5(AMACR):c.-40G>A SNV Uncertain significance 353257 rs553007226 GRCh37: 5:34008164-34008164
GRCh38: 5:34008059-34008059
19 C1QTNF3-AMACR , AMACR NM_014324.6(AMACR):c.*2044C>A SNV Uncertain significance 353223 rs529140346 GRCh37: 5:33987154-33987154
GRCh38: 5:33987049-33987049
20 C1QTNF3-AMACR , AMACR NM_014324.6(AMACR):c.*714T>C SNV Uncertain significance 353243 rs143877467 GRCh37: 5:33988484-33988484
GRCh38: 5:33988379-33988379
21 C1QTNF3-AMACR , AMACR NM_014324.6(AMACR):c.889G>A (p.Val297Ile) SNV Uncertain significance 353252 rs886060530 GRCh37: 5:33989458-33989458
GRCh38: 5:33989353-33989353
22 C1QTNF3-AMACR , AMACR NM_014324.6(AMACR):c.*233T>C SNV Uncertain significance 353249 rs557294515 GRCh37: 5:33988965-33988965
GRCh38: 5:33988860-33988860
23 C1QTNF3-AMACR , AMACR NM_014324.6(AMACR):c.*1942C>T SNV Uncertain significance 353226 rs543725887 GRCh37: 5:33987256-33987256
GRCh38: 5:33987151-33987151
24 C1QTNF3-AMACR , AMACR NM_014324.6(AMACR):c.*1560G>A SNV Uncertain significance 353232 rs886060524 GRCh37: 5:33987638-33987638
GRCh38: 5:33987533-33987533
25 C1QTNF3-AMACR , AMACR NM_014324.6(AMACR):c.*573dup Duplication Uncertain significance 353246 rs886060528 GRCh37: 5:33988624-33988625
GRCh38: 5:33988519-33988520
26 C1QTNF3-AMACR , AMACR NM_014324.6(AMACR):c.554T>C (p.Val185Ala) SNV Uncertain significance 235439 rs145786819 GRCh37: 5:33998931-33998931
GRCh38: 5:33998826-33998826
27 C1QTNF3-AMACR , AMACR NM_014324.6(AMACR):c.123C>G (p.Tyr41Ter) SNV Uncertain significance 632461 rs1561047456 GRCh37: 5:34008002-34008002
GRCh38: 5:34007897-34007897
28 C1QTNF3-AMACR , AMACR NM_014324.6(AMACR):c.857del (p.Ile286fs) Deletion Uncertain significance 802109 rs772921347 GRCh37: 5:33989490-33989490
GRCh38: 5:33989385-33989385
29 C1QTNF3-AMACR , AMACR NM_014324.6(AMACR):c.206T>C (p.Leu69Pro) SNV Uncertain significance 802110 rs915168123 GRCh37: 5:34007919-34007919
GRCh38: 5:34007814-34007814
30 C1QTNF3-AMACR , AMACR NM_014324.6(AMACR):c.602_603inv (p.Leu201Ser) Inversion Uncertain significance 845848 GRCh37: 5:33998882-33998883
GRCh38: 5:33998777-33998778
31 C1QTNF3-AMACR , AMACR NM_014324.6(AMACR):c.*1875C>T SNV Uncertain significance 904699 GRCh37: 5:33987323-33987323
GRCh38: 5:33987218-33987218
32 C1QTNF3-AMACR , AMACR NM_014324.6(AMACR):c.*1862C>T SNV Uncertain significance 904700 GRCh37: 5:33987336-33987336
GRCh38: 5:33987231-33987231
33 C1QTNF3-AMACR , AMACR NM_014324.6(AMACR):c.*523C>T SNV Uncertain significance 904773 GRCh37: 5:33988675-33988675
GRCh38: 5:33988570-33988570
34 C1QTNF3-AMACR , AMACR NM_014324.6(AMACR):c.*439A>G SNV Uncertain significance 904774 GRCh37: 5:33988759-33988759
GRCh38: 5:33988654-33988654
35 C1QTNF3-AMACR , AMACR NM_014324.6(AMACR):c.1137A>T (p.Lys379Asn) SNV Uncertain significance 904775 GRCh37: 5:33989210-33989210
GRCh38: 5:33989105-33989105
36 C1QTNF3-AMACR , AMACR NM_014324.6(AMACR):c.*1764A>C SNV Uncertain significance 905487 GRCh37: 5:33987434-33987434
GRCh38: 5:33987329-33987329
37 C1QTNF3-AMACR , AMACR NM_014324.6(AMACR):c.1051G>A (p.Glu351Lys) SNV Uncertain significance 905564 GRCh37: 5:33989296-33989296
GRCh38: 5:33989191-33989191
38 C1QTNF3-AMACR , AMACR NM_014324.6(AMACR):c.1001C>T (p.Thr334Ile) SNV Uncertain significance 905565 GRCh37: 5:33989346-33989346
GRCh38: 5:33989241-33989241
39 C1QTNF3-AMACR , AMACR NM_014324.6(AMACR):c.841G>C (p.Ala281Pro) SNV Uncertain significance 905566 GRCh37: 5:33989506-33989506
GRCh38: 5:33989401-33989401
40 C1QTNF3-AMACR , AMACR NM_014324.6(AMACR):c.1123A>G (p.Ser375Gly) SNV Uncertain significance 594184 rs200270822 GRCh37: 5:33989224-33989224
GRCh38: 5:33989119-33989119
41 C1QTNF3-AMACR , AMACR NM_014324.6(AMACR):c.625G>C (p.Gly209Arg) SNV Uncertain significance 595424 rs377130820 GRCh37: 5:33998860-33998860
GRCh38: 5:33998755-33998755
42 C1QTNF3-AMACR , AMACR NM_014324.6(AMACR):c.109C>A (p.Pro37Thr) SNV Uncertain significance 501618 rs199734111 GRCh37: 5:34008016-34008016
GRCh38: 5:34007911-34007911
43 C1QTNF3-AMACR , AMACR NM_014324.6(AMACR):c.511C>T (p.Arg171Cys) SNV Uncertain significance 597697 rs773780945 GRCh37: 5:34004720-34004720
GRCh38: 5:34004615-34004615
44 C1QTNF3-AMACR , AMACR NM_014324.6(AMACR):c.553-5C>A SNV Uncertain significance 907075 GRCh37: 5:33998937-33998937
GRCh38: 5:33998832-33998832
45 C1QTNF3-AMACR , AMACR NM_014324.6(AMACR):c.*805C>A SNV Uncertain significance 907020 GRCh37: 5:33988393-33988393
GRCh38: 5:33988288-33988288
46 C1QTNF3-AMACR , AMACR NM_014324.6(AMACR):c.*1032G>C SNV Uncertain significance 907019 GRCh37: 5:33988166-33988166
GRCh38: 5:33988061-33988061
47 C1QTNF3-AMACR , AMACR NM_014324.6(AMACR):c.710A>G (p.Glu237Gly) SNV Uncertain significance 906071 GRCh37: 5:33998775-33998775
GRCh38: 5:33998670-33998670
48 C1QTNF3-AMACR , AMACR NM_014324.6(AMACR):c.783G>A (p.Met261Ile) SNV Uncertain significance 502794 rs9282593 GRCh37: 5:33989564-33989564
GRCh38: 5:33989459-33989459
49 C1QTNF3-AMACR , AMACR NM_014324.6(AMACR):c.*1110G>T SNV Uncertain significance 905998 GRCh37: 5:33988088-33988088
GRCh38: 5:33987983-33987983
50 C1QTNF3-AMACR , AMACR NM_014324.6(AMACR):c.-22C>G SNV Uncertain significance 384898 rs35448266 GRCh37: 5:34008146-34008146
GRCh38: 5:34008041-34008041

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

72
# Symbol AA change Variation ID SNP ID
1 AMACR p.Ser52Pro VAR_010661 rs121917814
2 AMACR p.Leu107Pro VAR_010665 rs121917816

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
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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