CBAS5
MCID: BLC016
MIFTS: 21

Bile Acid Synthesis Defect, Congenital, 5 (CBAS5)

Categories: 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 58 30 6
Cbas5 58 12 76
Congenital Bile Acid Synthesis Defect 5 12 76
Bile Acid Synthesis Defect, Congenital, Type 5 41

Characteristics:

OMIM:

58
Inheritance:
autosomal recessive

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


HPO:

33
bile acid synthesis defect, congenital, 5:
Onset and clinical course infantile onset progressive
Inheritance autosomal recessive inheritance


Classifications:



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 : 76 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.

Description from OMIM: 616278

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:

33 (show all 7)
# Description HPO Frequency HPO Source Accession
1 splenomegaly 33 HP:0001744
2 hepatomegaly 33 HP:0002240
3 elevated hepatic transaminase 33 HP:0002910
4 hepatic fibrosis 33 HP:0001395
5 jaundice 33 HP:0000952
6 hepatic failure 33 HP:0001399
7 iron deficiency anemia 33 HP:0001891

Symptoms via clinical synopsis from OMIM:

58
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
liver failure
fibrosis

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 30 ABCD3

Anatomical Context for Bile Acid Synthesis Defect, Congenital, 5

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

42
Liver

Publications for Bile Acid Synthesis Defect, Congenital, 5

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

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

Variations for Bile Acid Synthesis Defect, Congenital, 5

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

6
# Gene Variation Type Significance SNP ID Assembly Location
1 ABCD3 NM_002858.3(ABCD3): c.1903-573_*1108del deletion Pathogenic GRCh38 Chromosome 1, 94516479: 94518237
2 ABCD3 NM_002858.3(ABCD3): c.1903-573_*1108del deletion Pathogenic GRCh37 Chromosome 1, 94982035: 94983793

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
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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