CBAS6
MCID: BLC018
MIFTS: 22

Bile Acid Synthesis Defect, Congenital, 6 (CBAS6)

Categories: Gastrointestinal diseases, Genetic diseases, Liver diseases, Metabolic diseases, Nephrological diseases, Neuronal diseases, Oral diseases, Rare 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 58 6
Cbas6 58 12 76
Congenital Bile Acid Synthesis Defect 6 12 76

Characteristics:

OMIM:

58
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:

33
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 : 76 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 global developmental delay 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

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

33 (show all 9)
# Description HPO Frequency HPO Source Accession
1 global developmental delay 33 HP:0001263
2 delayed speech and language development 33 HP:0000750
3 intellectual disability, mild 33 HP:0001256
4 slurred speech 33 HP:0001350
5 dysmetria 33 HP:0001310
6 vitamin d deficiency 33 HP:0100512
7 steatorrhea 33 HP:0002570
8 vertical supranuclear gaze palsy 33 HP:0000511
9 hypolipidemia 33 HP:0045014

Symptoms via clinical synopsis from OMIM:

58
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

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:

42
Liver

Publications for Bile Acid Synthesis Defect, Congenital, 6

Articles related to Bile Acid Synthesis Defect, Congenital, 6:

# Title Authors Year
1
ACOX2 deficiency: An inborn error of bile acid synthesis identified in an adolescent with persistent hypertransaminasemia. ( 27884763 )
2017
2
ACOX2 deficiency: A disorder of bile acid synthesis with transaminase elevation, liver fibrosis, ataxia, and cognitive impairment. ( 27647924 )
2016

Variations for Bile Acid Synthesis Defect, Congenital, 6

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

76
# 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
5 ACOX2 NM_003500.3(ACOX2): c.149G> A (p.Arg50His) single nucleotide variant Uncertain significance GRCh37 Chromosome 3, 58520685: 58520685
6 ACOX2 NM_003500.3(ACOX2): c.149G> A (p.Arg50His) single nucleotide variant Uncertain significance GRCh38 Chromosome 3, 58534958: 58534958

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 EFO
18 ExPASy
20 FMA
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31 HGMD
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35 ICD10 via Orphanet
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50 NCI
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55 NINDS
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58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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