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 57 29 6
Cbas5 57 12 75
Congenital Bile Acid Synthesis Defect 5 12 75
Bile Acid Synthesis Defect, Congenital, Type 5 40

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive

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


HPO:

32
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 : 75 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

Symptoms via clinical synopsis from OMIM:

57
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

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

32 (show all 7)
# Description HPO Frequency HPO Source Accession
1 splenomegaly 32 HP:0001744
2 hepatomegaly 32 HP:0002240
3 hepatic fibrosis 32 HP:0001395
4 jaundice 32 HP:0000952
5 iron deficiency anemia 32 HP:0001891
6 hepatic failure 32 HP:0001399
7 elevated hepatic transaminase 32 HP:0002910

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:

41
Liver

Publications for Bile Acid Synthesis Defect, Congenital, 5

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 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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