CBAS5
MCID: BLC016
MIFTS: 20

Bile Acid Synthesis Defect, Congenital, 5 (CBAS5)

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, 5

MalaCards integrated aliases for Bile Acid Synthesis Defect, Congenital, 5:

Name: Bile Acid Synthesis Defect, Congenital, 5 56 29 6
Cbas5 56 12 73
Congenital Bile Acid Synthesis Defect 5 12 73
Bile Acid Synthesis Defect, Congenital, Type 5 39

Characteristics:

OMIM:

56
Inheritance:
autosomal recessive

Miscellaneous:
onset in infancy
progressive disorder
one patient has been reported (last curated march 2015)


HPO:

31
bile acid synthesis defect, congenital, 5:
Inheritance autosomal recessive inheritance
Onset and clinical course infantile onset progressive


Classifications:



External Ids:

Disease Ontology 12 DOID:0111066
OMIM 56 616278
OMIM Phenotypic Series 56 PS607765
MeSH 43 D008107

Summaries for Bile Acid Synthesis Defect, Congenital, 5

Disease Ontology : 12 A congenital bile acid synthesis defect characterized by hepatomegaly, liver fibrosis and failure, splenomegaly, and elevated plasma levels of bile acid intermediates that has material basis in homozygous mutation in the ABCD3 gene on chromosome 1p21.

MalaCards based summary : Bile Acid Synthesis Defect, Congenital, 5, is also known as cbas5. An important gene associated with Bile Acid Synthesis Defect, Congenital, 5 is ABCD3 (ATP Binding Cassette Subfamily D Member 3). Affiliated tissues include liver, and related phenotypes are splenomegaly and hepatomegaly

UniProtKB/Swiss-Prot : 73 Congenital bile acid synthesis defect 5: An autosomal recessive disorder characterized by hepatosplenomegaly, hepatic fibrosis, progressive liver failure, and accumulation of peroxisomal C27-bile acid intermediates in plasma.

More information from OMIM: 616278 PS607765

Related Diseases for Bile Acid Synthesis Defect, Congenital, 5

Symptoms & Phenotypes for Bile Acid Synthesis Defect, Congenital, 5

Human phenotypes related to Bile Acid Synthesis Defect, Congenital, 5:

31 (show all 7)
# Description HPO Frequency HPO Source Accession
1 splenomegaly 31 HP:0001744
2 hepatomegaly 31 HP:0002240
3 elevated hepatic transaminase 31 HP:0002910
4 hepatic fibrosis 31 HP:0001395
5 jaundice 31 HP:0000952
6 hepatic failure 31 HP:0001399
7 iron deficiency anemia 31 HP:0001891

Symptoms via clinical synopsis from OMIM:

56
Abdomen Spleen:
splenomegaly

Skin Nails Hair Skin:
jaundice

Laboratory Abnormalities:
abnormal liver enzymes
increased plasma bile acid intermediates (dhca and thca)
increased plasma very long-chain fatty acids
increased pristanic acid in fibroblasts
fibroblasts show reduced numbers of enlarged peroxisomes

Abdomen Liver:
hepatomegaly
fibrosis
liver failure

Hematology:
iron-deficiency anemia
coagulation defects secondary to liver failure

Clinical features from OMIM:

616278

Drugs & Therapeutics for Bile Acid Synthesis Defect, Congenital, 5

Search Clinical Trials , NIH Clinical Center for Bile Acid Synthesis Defect, Congenital, 5

Genetic Tests for Bile Acid Synthesis Defect, Congenital, 5

Genetic tests related to Bile Acid Synthesis Defect, Congenital, 5:

# Genetic test Affiliating Genes
1 Bile Acid Synthesis Defect, Congenital, 5 29 ABCD3

Anatomical Context for Bile Acid Synthesis Defect, Congenital, 5

MalaCards organs/tissues related to Bile Acid Synthesis Defect, Congenital, 5:

40
Liver

Publications for Bile Acid Synthesis Defect, Congenital, 5

Articles related to Bile Acid Synthesis Defect, Congenital, 5:

# Title Authors PMID Year
1
A novel bile acid biosynthesis defect due to a deficiency of peroxisomal ABCD3. 6 56
25168382 2015

Variations for Bile Acid Synthesis Defect, Congenital, 5

ClinVar genetic disease variations for Bile Acid Synthesis Defect, Congenital, 5:

6 ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 ABCD3 NM_002858.3(ABCD3):c.1903-573_*1108deldeletion Pathogenic 187846 1:94982035-94983793 1:94516479-94518237

Expression for Bile Acid Synthesis Defect, Congenital, 5

Search GEO for disease gene expression data for Bile Acid Synthesis Defect, Congenital, 5.

Pathways for Bile Acid Synthesis Defect, Congenital, 5

GO Terms for Bile Acid Synthesis Defect, Congenital, 5

Sources for Bile Acid Synthesis Defect, Congenital, 5

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
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
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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