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.
Table of contents:
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.
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
Search interest in ACOX2
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
United States.
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