MCID: DSR081
MIFTS: 19

Disorder of Bile Acid Synthesis

Categories: Blood diseases, Gastrointestinal diseases, Genetic diseases, Liver diseases, Metabolic diseases, Nephrological diseases, Neuronal diseases, Oral diseases, Rare diseases

Aliases & Classifications for Disorder of Bile Acid Synthesis

MalaCards integrated aliases for Disorder of Bile Acid Synthesis:

Name: Disorder of Bile Acid Synthesis 59 29

Characteristics:

Orphanet epidemiological data:

59
disorder of bile acid synthesis
Prevalence: 1-9/1000000 (Europe); Age of onset: All ages;

Classifications:

Orphanet: 59  
Inborn errors of metabolism


External Ids:

Orphanet 59 ORPHA79168

Summaries for Disorder of Bile Acid Synthesis

MalaCards based summary : Disorder of Bile Acid Synthesis is related to ataxia and polyneuropathy, adult-onset and xanthomatosis. An important gene associated with Disorder of Bile Acid Synthesis is ACOX2 (Acyl-CoA Oxidase 2). Affiliated tissues include liver and testes, and related phenotypes are elevated hepatic transaminase and biliary tract abnormality

Related Diseases for Disorder of Bile Acid Synthesis

Graphical network of the top 20 diseases related to Disorder of Bile Acid Synthesis:



Diseases related to Disorder of Bile Acid Synthesis

Symptoms & Phenotypes for Disorder of Bile Acid Synthesis

Human phenotypes related to Disorder of Bile Acid Synthesis:

59 32 (show all 10)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 elevated hepatic transaminase 59 32 hallmark (90%) Very frequent (99-80%) HP:0002910
2 biliary tract abnormality 59 32 hallmark (90%) Very frequent (99-80%) HP:0001080
3 cholestasis 59 32 hallmark (90%) Very frequent (99-80%) HP:0001396
4 fat malabsorption 59 32 hallmark (90%) Very frequent (99-80%) HP:0002630
5 rickets 59 32 frequent (33%) Frequent (79-30%) HP:0002748
6 abnormal bleeding 59 32 frequent (33%) Frequent (79-30%) HP:0001892
7 peripheral neuropathy 59 32 frequent (33%) Frequent (79-30%) HP:0009830
8 nyctalopia 59 32 occasional (7.5%) Occasional (29-5%) HP:0000662
9 abnormality of the nervous system 59 Frequent (79-30%)
10 abnormality of the liver 59 Very frequent (99-80%)

Drugs & Therapeutics for Disorder of Bile Acid Synthesis

DrugBank drugs 16 :

# Drug Name Indication DrugBank ID
1 Cholic Acid Oral cholic acid is indicated for: treatment of bile acid synthesis disorders due to single enzyme defects; and as adjunctive treatment of peroxisomal disorders including Zellweger spectrum disorders in patients who exhibit manifestations of liver disease, steatorrhea or complications from decreased fat soluble vitamin absorption. DB02659

Search Clinical Trials , NIH Clinical Center for Disorder of Bile Acid Synthesis

Inferred drug relations via UMLS 72 / NDF-RT 51 :


Cholic Acid

Genetic Tests for Disorder of Bile Acid Synthesis

Genetic tests related to Disorder of Bile Acid Synthesis:

# Genetic test Affiliating Genes
1 Disorder of Bile Acid Synthesis 29

Anatomical Context for Disorder of Bile Acid Synthesis

MalaCards organs/tissues related to Disorder of Bile Acid Synthesis:

41
Liver, Testes

Publications for Disorder of Bile Acid Synthesis

Articles related to Disorder of Bile Acid Synthesis:

# Title Authors PMID Year
1
Epidemiology, diagnosis, and treatment of cerebrotendinous xanthomatosis (CTX). 38
28980151 2017
2
A newborn screening method for cerebrotendinous xanthomatosis using bile alcohol glucuronides and metabolite ratios. 38
28314860 2017
3
ACOX2 deficiency: A disorder of bile acid synthesis with transaminase elevation, liver fibrosis, ataxia, and cognitive impairment. 38
27647924 2016
4
Update on newborn dried bloodspot testing for cerebrotendinous xanthomatosis: An available high-throughput liquid-chromatography tandem mass spectrometry method. 38
27331003 2016
5
Prospective treatment of cerebrotendinous xanthomatosis with cholic acid therapy. 38
19125350 2008
6
Cerebrotendinous xanthomatosis: case report with evidence of oxidative stress. 38
17623518 2007
7
Could steroids mask the diagnosis of cerebrotendinous xanthomatosis? 38
16445943 2006
8
[Cerebrotendinous xanthomatosis, a treatable metabolic disorder]. 38
12486565 2002
9
Presence of diarrhea and absence of tendon xanthomas in patients with cerebrotendinous xanthomatosis. 38
10768627 2000

Variations for Disorder of Bile Acid Synthesis

Expression for Disorder of Bile Acid Synthesis

Search GEO for disease gene expression data for Disorder of Bile Acid Synthesis.

Pathways for Disorder of Bile Acid Synthesis

GO Terms for Disorder of Bile Acid Synthesis

Sources for Disorder of Bile Acid Synthesis

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 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 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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