congenital bile acid synthesis defect 6

Summary
Synonym
  • CBAS6
Definition
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.
Super Class
congenital bile acid synthesis defect
External Links
Disease Ontology
DOID:0111067
Mondo Disease Ontology
OMIM
WikiPathways (from TogoID)
Related Genes
Displaying 1 entry
Gene ID Gene Symbol Description Source
8309 ACOX2 acyl-CoA oxidase 2
Related Glycoprotein
Displaying 1 entry
UniProt ID Protein Name Source
Q99424 Peroxisomal acyl-coenzyme A oxidase 2
The Human Phenotype Ontology
Displaying entries 1 - 10 of 12 in total
HPO ID HPO Term
HP:0001350 Slurred speech
HP:0001251 Ataxia
HP:0100512 Decreased circulating vitamin D concentration
HP:0000511 Vertical supranuclear gaze palsy
HP:0002570 Steatorrhea
HP:0001263 Global developmental delay
HP:0000007 Autosomal recessive inheritance
HP:0002066 Gait ataxia
HP:0001256 Intellectual disability, mild
HP:0003593 Infantile onset
Displaying 1 entry
Gene ID Gene Symbol Description
8309 ACOX2 acyl-CoA oxidase 2

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Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01


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Last updated: August 19, 2024