congenital bile acid synthesis defect 6
Findings
No curated finding names congenital bile acid synthesis defect 6 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Any congenital bile acid synthesis defect in which the cause of the disease is a mutation in the ACOX2 gene.
Definition from the Mondo Disease Ontology (MONDO:0015015), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Infantile onset
HPO, annotations 2026-09-02
Features
12 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Decreased circulating vitamin D concentrationHPOHP:0100512
- 1 of 1 reported patient
- Delayed speech and language developmentHPOHP:0000750
- 1 of 1 reported patient
- DysmetriaHPOHP:0001310
- 1 of 1 reported patient
- Elevated circulating alanine aminotransferase concentrationHPOHP:0031964
- 1 of 1 reported patient
- Elevated circulating aspartate aminotransferase concentrationHPOHP:0031956
- 1 of 1 reported patient
- Gait ataxiaHPOHP:0002066
- 1 of 1 reported patient
- Global developmental delay
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- ACOX2HGNC:120
- Definitive · ClinGen · Autosomal recessive · 2024
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Limited · Ambry Genetics · Autosomal recessive · 2024
- Limited · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2018
Where it sits
Other names
6 names
Resolves to: congenital bile acid synthesis defect 6
- Also called
- ACOX2 congenital bile acid synthesis defectbile acid synthesis defect, congenital, 6bile acid synthesis defect, congenital, type 6CBAS6congenital bile acid synthesis defect caused by mutation in ACOX2congenital bile acid synthesis defect type 6