PRDX2 gene related symptoms and diseases

All the information presented here about the PRDX2 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: OMIM,NCBIGENE,HGNC, Mendelian Rare Disease Search Engine.

Top 5 symptoms and clinical features associated to PRDX2 gene

Symptoms // Phenotype % Cases
Intellectual disability Very Common - Between 80% and 100% cases
Hydroureter Very Common - Between 80% and 100% cases
Congenital hypothyroidism Very Common - Between 80% and 100% cases
Impaired pain sensation Very Common - Between 80% and 100% cases
Abnormality of immune system physiology Very Common - Between 80% and 100% cases

Other less frequent symptoms and clinical features

Patients with PRDX2 gene alterations may also develop some of the following symptoms and phenotypes:
  • Commonly - More than 50% cases

  • Abnormality of blood and blood-forming tissues
  • Prematurely aged appearance
  • Transposition of the great arteries
  • Broad palm
  • Atrioventricular canal defect
  • Decreased fertility
  • Alzheimer disease
  • Polycythemia

And 89 more phenotypes, you can get all of them using our tools for rare diseases.


Accelerate your rare disease diagnosis with us

Learn more

Rare diseases associated to PRDX2 gene

Here you will find a list of rare diseases related to the PRDX2. You can also use our tool to get a more accurate diagnosis based on your current symptoms.


Alternate names

DOWN SYNDROME Is also known as trisomy 21


Down syndrome is a chromosomal abnormality caused by the presence of a third (partial or total) copy of chromosome 21 and that is characterized by variable intellectual disability, muscular hypotonia, and joint laxity, often associated with a characteristic facial dysmorphism and various anomalies such as cardiac, gastrointestinal, or endocrine defects.

Most common symptoms of DOWN SYNDROME

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Hearing impairment

More info about DOWN SYNDROME


Potential gene panels for PRDX2 gene

PRDX2 Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the PRDX2 gene.

More info about this panel

If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like RNU4ATAC HSPD1 EDARADD ANK1 SAMD11 SPTLC2 SMIM1

Need help with a diagnosis?

Learn more about how to achieve it with Mendelian

Learn more