MCID: BLC018
MIFTS: 17

Bile Acid Synthesis Defect, Congenital, 6

Categories: Genetic diseases, Metabolic diseases, Liver diseases

Aliases & Classifications for Bile Acid Synthesis Defect, Congenital, 6

MalaCards integrated aliases for Bile Acid Synthesis Defect, Congenital, 6:

Name: Bile Acid Synthesis Defect, Congenital, 6 54
Congenital Bile Acid Synthesis Defect 6 12 71
Cbas6 12 71

Characteristics:

OMIM:

54
Inheritance:
autosomal recessive

Miscellaneous:
onset in infancy
three patients from 2 unrelated families have been reported (last curated february 2017)
patient a was a single member of a consanguineous turkish family


Classifications:



External Ids:

OMIM 54 617308
Disease Ontology 12 DOID:0111067
MedGen 40 CN240352
MeSH 42 D002780

Summaries for Bile Acid Synthesis Defect, Congenital, 6

UniProtKB/Swiss-Prot : 71 Congenital bile acid synthesis defect 6: An inborn error of bile acid synthesis characterized by abnormally increased liver enzymes, hypolipidemia and low cholesterol, vitamin D deficiency, elevated plasma and urinary levels of C27 intermediate bile acids 3alpha,7alpha-dihydroxy-5beta-cholestanoic acid (DHCA) and 3alpha,7alpha,12alpha-trihydroxy-5beta-cholestanoic acid (THCA). Serum levels of phytanic and pristanic acids are normal. Clinical features include liver fibrosis, mild ataxia, delayed development, and cognitive impairment. Liver histology shows many thin fibrous septa, swollen hepatocytes, glycogenated nuclei, and focal acinar transformation, consistent with hepatocellular injury and regeneration, without signs of obvious cholestasis, cholate stasis, or steatosis. CBAS6 transmission pattern is consistent with autosomal recessive inheritance.

MalaCards based summary : Bile Acid Synthesis Defect, Congenital, 6, is also known as congenital bile acid synthesis defect 6. An important gene associated with Bile Acid Synthesis Defect, Congenital, 6 is ACOX2 (Acyl-CoA Oxidase 2). The drugs Alpha 1-Antitrypsin and Bile Acids and Salts have been mentioned in the context of this disorder. Affiliated tissues include liver.

Disease Ontology : 12 A congenital bile acid synthesis defect characterized by increased liver enzymes, decreased cholesterol, and increased serum and urine levels of bile acid intermediates that has material basis in homozygous mutation in the ACOX2 gene on chromosome 3p14.

Description from OMIM: 617308

Related Diseases for Bile Acid Synthesis Defect, Congenital, 6

Symptoms & Phenotypes for Bile Acid Synthesis Defect, Congenital, 6

Symptoms via clinical synopsis from OMIM:

54

Head And Neck- Eyes:
vertical gaze palsy, mild (patient a)

Laboratory- Abnormalities:
abnormally increased liver enzymes
hypolipidemia (patient a)
decreased cholesterol
vitamin d deficiency (patient a)
increased serum and urine c27 bile acid intermediates dhca and thca
more
Neurologic- Central Nervous System:
delayed development, mild (patient a)
intellectual disability, mild (patient a)
speech delay, mild (patient a)
slurred speech (patient a)
ataxia, mild (patient a)
more
Abdomen- Liver:
swollen hepatocytes seen on biopsy (patient a)
glycogenated nuclei (patient a)
hepatocellular injury and regeneration (patient a)
intracellular cholestasis, mild
fibrosis, mild (patient a)
more
Abdomen- Gastroin testinal:
steatorrhea (patient a)


Clinical features from OMIM:

617308

Drugs & Therapeutics for Bile Acid Synthesis Defect, Congenital, 6

Drugs for Bile Acid Synthesis Defect, Congenital, 6 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):


id Name Status Phase Clinical Trials Cas Number PubChem Id
1 Alpha 1-Antitrypsin
2 Bile Acids and Salts
3 Liver Extracts
4 Protein C Inhibitor

Interventional clinical trials:


id Name Status NCT ID Phase Drugs
1 Evaluating the Genetic Causes and Progression of Cholestatic Liver Diseases (LOGIC) Recruiting NCT00571272

Search NIH Clinical Center for Bile Acid Synthesis Defect, Congenital, 6

Genetic Tests for Bile Acid Synthesis Defect, Congenital, 6

Anatomical Context for Bile Acid Synthesis Defect, Congenital, 6

MalaCards organs/tissues related to Bile Acid Synthesis Defect, Congenital, 6:

39
Liver

Publications for Bile Acid Synthesis Defect, Congenital, 6

Variations for Bile Acid Synthesis Defect, Congenital, 6

UniProtKB/Swiss-Prot genetic disease variations for Bile Acid Synthesis Defect, Congenital, 6:

71
id Symbol AA change Variation ID SNP ID
1 ACOX2 p.Arg225Trp VAR_078765 rs150832314

ClinVar genetic disease variations for Bile Acid Synthesis Defect, Congenital, 6:

6
id Gene Variation Type Significance SNP ID Assembly Location
1 ACOX2 NM_003500.3(ACOX2): c.207T> A (p.Tyr69Ter) single nucleotide variant Pathogenic rs1057519329 GRCh37 Chromosome 3, 58520203: 58520203
2 ACOX2 NM_003500.3(ACOX2): c.673C> T (p.Arg225Trp) single nucleotide variant Pathogenic rs150832314 GRCh38 Chromosome 3, 58531723: 58531723

Expression for Bile Acid Synthesis Defect, Congenital, 6

Search GEO for disease gene expression data for Bile Acid Synthesis Defect, Congenital, 6.

Pathways for Bile Acid Synthesis Defect, Congenital, 6

GO Terms for Bile Acid Synthesis Defect, Congenital, 6

Sources for Bile Acid Synthesis Defect, Congenital, 6

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 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 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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