PRDX6 gene related symptoms and diseases
All the information presented here about the PRDX6 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: HGNC,NCBIGENE,OMIM, Mendelian Rare Disease Search Engine.
Top 5 symptoms and clinical features associated to PRDX6 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 PRDX6 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.
Rare diseases associated to PRDX6 gene
Here you will find a list of rare diseases related to the PRDX6. You can also use our tool to get a more accurate diagnosis based on your current symptoms.
DOWN SYNDROME
Alternate names
DOWN SYNDROME Is also known as trisomy 21
Description
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
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