MCID: BLC018
MIFTS: 18

Bile Acid Synthesis Defect, Congenital, 6

Categories: Genetic diseases, Liver diseases, Metabolic 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 53
Cbas6 53 12 71
Congenital Bile Acid Synthesis Defect 6 12 71

Characteristics:

OMIM:

53
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


HPO:

31
bile acid synthesis defect, congenital, 6:
Onset and clinical course infantile onset
Inheritance autosomal recessive inheritance


Classifications:



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 cbas6, and has symptoms including vertical supranuclear gaze palsy, delayed speech and language development and intellectual disability, mild. An important gene associated with Bile Acid Synthesis Defect, Congenital, 6 is ACOX2 (Acyl-CoA Oxidase 2). 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:

53
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

Human phenotypes related to Bile Acid Synthesis Defect, Congenital, 6:

31 (show all 9)
# Description HPO Frequency HPO Source Accession
1 vertical supranuclear gaze palsy 31 HP:0000511
2 delayed speech and language development 31 HP:0000750
3 intellectual disability, mild 31 HP:0001256
4 global developmental delay 31 HP:0001263
5 dysmetria 31 HP:0001310
6 slurred speech 31 HP:0001350
7 steatorrhea 31 HP:0002570
8 hypolipidemia 31 HP:0045014
9 vitamin d deficiency 31 HP:0100512

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

Search Clinical Trials , 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:

38
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
# 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
# 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
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 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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