CBAS6
MCID: BLC018
MIFTS: 22

Bile Acid Synthesis Defect, Congenital, 6 (CBAS6)

Categories: Blood diseases, 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 57 29 6
Cbas6 57 12 72
Congenital Bile Acid Synthesis Defect 6 12 72

Characteristics:

OMIM®:

57 (Updated 20-May-2021)
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:
Inheritance autosomal recessive inheritance
Onset and clinical course infantile onset


Classifications:



Summaries for Bile Acid Synthesis Defect, Congenital, 6

UniProtKB/Swiss-Prot : 72 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.

More information from OMIM: 617308 PS607765

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:

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

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
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 (Updated 20-May-2021)

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

Genetic tests related to Bile Acid Synthesis Defect, Congenital, 6:

# Genetic test Affiliating Genes
1 Bile Acid Synthesis Defect, Congenital, 6 29 ACOX2

Anatomical Context for Bile Acid Synthesis Defect, Congenital, 6

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

40
Liver

Publications for Bile Acid Synthesis Defect, Congenital, 6

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

# Title Authors PMID Year
1
ACOX2 deficiency: An inborn error of bile acid synthesis identified in an adolescent with persistent hypertransaminasemia. 57 6
27884763 2017
2
ACOX2 deficiency: A disorder of bile acid synthesis with transaminase elevation, liver fibrosis, ataxia, and cognitive impairment. 6 57
27647924 2016

Variations for Bile Acid Synthesis Defect, Congenital, 6

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

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 ACOX2 NM_003500.4(ACOX2):c.207T>A (p.Tyr69Ter) SNV Pathogenic 375219 rs1057519329 GRCh37: 3:58520203-58520203
GRCh38: 3:58534476-58534476
2 ACOX2 NM_003500.4(ACOX2):c.673C>T (p.Arg225Trp) SNV Pathogenic 375691 rs150832314 GRCh37: 3:58517450-58517450
GRCh38: 3:58531723-58531723
3 ACOX2 NM_003500.4(ACOX2):c.149G>A (p.Arg50His) SNV Uncertain significance 562218 rs763287775 GRCh37: 3:58520685-58520685
GRCh38: 3:58534958-58534958
4 ACOX2 NM_003500.4(ACOX2):c.380G>A (p.Arg127Lys) SNV Uncertain significance 1034006 GRCh37: 3:58519816-58519816
GRCh38: 3:58534089-58534089

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

72
# Symbol AA change Variation ID SNP ID
1 ACOX2 p.Arg225Trp VAR_078765 rs150832314

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
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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