ACOX2 gene related symptoms and diseases

All the information presented here about the ACOX2 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: HGNC,OMIM,NCBIGENE, Mendelian Rare Disease Search Engine.

Top 5 symptoms and clinical features associated to ACOX2 gene

Symptoms // Phenotype % Cases
Intellectual disability Very Common - Between 80% and 100% cases
Cirrhosis Very Common - Between 80% and 100% cases
Vitamin D deficiency Very Common - Between 80% and 100% cases
Vertical supranuclear gaze palsy Very Common - Between 80% and 100% cases
Fat malabsorption Very Common - Between 80% and 100% cases

Other less frequent symptoms and clinical features

Patients with ACOX2 gene alterations may also develop some of the following symptoms and phenotypes:
  • Commonly - More than 50% cases

  • Steatorrhea
  • Slurred speech
  • Cholestasis
  • Hepatic steatosis
  • Dysmetria
  • Global developmental delay
  • Malabsorption
  • Abnormality of the nervous system

And 7 more phenotypes, you can get all of them using our tools for rare diseases.

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Rare diseases associated to ACOX2 gene

Here you will find a list of rare diseases related to the ACOX2. You can also use our tool to get a more accurate diagnosis based on your current symptoms.


BILE ACID SYNTHESIS DEFECT, CONGENITAL, 6; CBAS6


Most common symptoms of BILE ACID SYNTHESIS DEFECT, CONGENITAL, 6; CBAS6

  • Intellectual disability
  • Global developmental delay
  • Ataxia
  • Delayed speech and language development
  • Hepatomegaly


More info about BILE ACID SYNTHESIS DEFECT, CONGENITAL, 6; CBAS6

SOURCES: OMIM


Potential gene panels for ACOX2 gene

ACOX2 Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the ACOX2 gene.

More info about this panel


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