CBAS5
MCID: BLC016
MIFTS: 29

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
Congenital Bile Acid Synthesis Defect 5 12 73 15
Cbas5 56 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, also known as congenital bile acid synthesis defect 5, is related to signet ring basal cell carcinoma and urachal adenocarcinoma. An important gene associated with Bile Acid Synthesis Defect, Congenital, 5 is ABCD3 (ATP Binding Cassette Subfamily D Member 3), and among its related pathways/superpathways is Cell surface interactions at the vascular wall. 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

Diseases in the Disorder of Bile Acid Synthesis family:

Bile Acid Synthesis Defect, Congenital, 4 Bile Acid Synthesis Defect, Congenital, 2
Bile Acid Synthesis Defect, Congenital, 1 Bile Acid Synthesis Defect, Congenital, 3
Bile Acid Synthesis Defect, Congenital, 5 Bile Acid Synthesis Defect, Congenital, 6
Congenital Bile Acid Synthesis Defect

Diseases related to Bile Acid Synthesis Defect, Congenital, 5 via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 60)
# Related Disease Score Top Affiliating Genes
1 signet ring basal cell carcinoma 9.8 KRAS CEACAM5
2 urachal adenocarcinoma 9.8 KRAS CEACAM5
3 vaginal tubulovillous adenoma 9.8 KRAS CEACAM5
4 villous adenoma 9.8 KRAS CEACAM5
5 immature teratoma of ovary 9.8 KRAS CEACAM5
6 mature teratoma 9.8 KRAS CEACAM5
7 teratoma 9.8 KRAS CEACAM5
8 sigmoid neoplasm 9.8 KRAS CEACAM5
9 descending colon cancer 9.8 KRAS CEACAM5
10 transverse colon cancer 9.8 KRAS CEACAM5
11 appendiceal neoplasm 9.8 KRAS CEACAM5
12 appendix adenocarcinoma 9.8 KRAS CEACAM5
13 ascending colon cancer 9.8 KRAS CEACAM5
14 biliary tract benign neoplasm 9.8 KRAS CEACAM5
15 ovarian mucinous neoplasm 9.8 KRAS CEACAM5
16 tumor of exocrine pancreas 9.8 KRAS CEACAM5
17 appendix disease 9.8 KRAS CEACAM5
18 duodenum adenocarcinoma 9.8 KRAS CEACAM5
19 bile duct cysts 9.8 KRAS CEACAM5
20 papillary adenoma 9.8 KRAS CEACAM5
21 appendix cancer 9.8 KRAS CEACAM5
22 rectosigmoid cancer 9.8 KRAS CEACAM5
23 duodenum cancer 9.8 KRAS CEACAM5
24 duodenum disease 9.8 KRAS CEACAM5
25 papillary serous adenocarcinoma 9.8 KRAS CEACAM5
26 cecum carcinoma 9.8 KRAS CEACAM5
27 pseudomyxoma peritonei 9.8 KRAS CEACAM5
28 adenocarcinoma in situ 9.8 KRAS CEACAM5
29 signet ring cell adenocarcinoma 9.8 KRAS CEACAM5
30 mixed cell type cancer 9.8 KRAS CEACAM5
31 cystic teratoma 9.8 KRAS CEACAM5
32 rectum adenocarcinoma 9.8 KRAS CEACAM5
33 ovarian cystadenocarcinoma 9.8 KRAS CEACAM5
34 reproductive organ benign neoplasm 9.8 KRAS CEACAM5
35 colonic benign neoplasm 9.7 KRAS CEACAM5
36 bronchiolo-alveolar adenocarcinoma 9.7 KRAS CEACAM5
37 papillary adenocarcinoma 9.7 KRAS CEACAM5
38 small intestine cancer 9.7 KRAS CEACAM5
39 mucinous adenocarcinoma 9.7 KRAS CEACAM5
40 ampulla of vater cancer 9.7 KRAS CEACAM5
41 thyroid carcinoma, familial medullary 9.7 KRAS CEACAM5
42 cardiovascular organ benign neoplasm 9.7 KRAS CEACAM5
43 lymphangioma 9.7 KRAS CEACAM5
44 adenosquamous carcinoma 9.7 KRAS CEACAM5
45 cervical adenocarcinoma 9.7 KRAS CEACAM5
46 intestinal benign neoplasm 9.7 KRAS CEACAM5
47 carcinosarcoma 9.7 KRAS CEACAM5
48 ovary adenocarcinoma 9.7 KRAS CEACAM5
49 large cell carcinoma 9.7 KRAS CEACAM5
50 gastrointestinal system benign neoplasm 9.7 KRAS CEACAM5

Graphical network of the top 20 diseases related to Bile Acid Synthesis Defect, Congenital, 5:



Diseases related to 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. 56 6
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_002858.4(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

Pathways related to Bile Acid Synthesis Defect, Congenital, 5 according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
11.05 PROC KRAS CEACAM5

GO Terms for Bile Acid Synthesis Defect, Congenital, 5

Biological processes related to Bile Acid Synthesis Defect, Congenital, 5 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 transmembrane transport GO:0055085 8.8 ABCF1 ABCD3 ABCB9

Molecular functions related to Bile Acid Synthesis Defect, Congenital, 5 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 nucleotide binding GO:0000166 9.56 KRAS ABCF1 ABCD3 ABCB9
2 protein homodimerization activity GO:0042803 9.33 CEACAM5 ABCD3 ABCB9
3 ATPase activity, coupled to transmembrane movement of substances GO:0042626 8.96 ABCD3 ABCB9
4 ATPase activity GO:0016887 8.8 ABCF1 ABCD3 ABCB9

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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