MCID: BLC018
MIFTS: 18

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 57 6
Cbas6 57 12 75
Congenital Bile Acid Synthesis Defect 6 12 75

Characteristics:

OMIM:

57
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:

32
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 : 75 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. An important gene associated with Bile Acid Synthesis Defect, Congenital, 6 is ACOX2 (Acyl-CoA Oxidase 2). Affiliated tissues include liver, and related phenotypes are vertical supranuclear gaze palsy and delayed speech and language development

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:

57
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 Gastrointestinal:
steatorrhea (patient a)


Clinical features from OMIM:

617308

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

32 (show all 9)
# Description HPO Frequency HPO Source Accession
1 vertical supranuclear gaze palsy 32 HP:0000511
2 delayed speech and language development 32 HP:0000750
3 intellectual disability, mild 32 HP:0001256
4 global developmental delay 32 HP:0001263
5 dysmetria 32 HP:0001310
6 slurred speech 32 HP:0001350
7 steatorrhea 32 HP:0002570
8 hypolipidemia 32 HP:0045014
9 vitamin d deficiency 32 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:

41
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:

75
# 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.207T> A (p.Tyr69Ter) single nucleotide variant Pathogenic rs1057519329 GRCh38 Chromosome 3, 58534476: 58534476
3 ACOX2 NM_003500.3(ACOX2): c.673C> T (p.Arg225Trp) single nucleotide variant Pathogenic rs150832314 GRCh38 Chromosome 3, 58531723: 58531723
4 ACOX2 NM_003500.3(ACOX2): c.673C> T (p.Arg225Trp) single nucleotide variant Pathogenic rs150832314 GRCh37 Chromosome 3, 58517450: 58517450

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
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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