EPX gene related symptoms and diseases
All the information presented here about the EPX 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 EPX gene
Symptoms // Phenotype | % Cases |
---|---|
Anemia | Very Common - Between 80% and 100% cases |
Allergy | Very Common - Between 80% and 100% cases |
Refractory anemia | Very Common - Between 80% and 100% cases |
Abnormal eosinophil morphology | Very Common - Between 80% and 100% cases |
Rare diseases associated to EPX gene
Here you will find a list of rare diseases related to the EPX. You can also use our tool to get a more accurate diagnosis based on your current symptoms.
EOSINOPHIL PEROXIDASE DEFICIENCY; EPXD
Alternate names
EOSINOPHIL PEROXIDASE DEFICIENCY; EPXD Is also known as peroxidase and phospholipid deficiency in eosinophils, eosinophil peroxidase deficiency, partial, presentey anomaly
Description
Eosinophil peroxidase deficiency is a rare abnormality of eosinophil granulocytes characterized by decreased or absent peroxidase activity and decreased volume of the granule matrix (summary by Romano et al., 1994). Nakagawa et al. (2001) noted that there are no clinical symptoms and the diagnosis is made solely by cytochemical analysis.
Most common symptoms of EOSINOPHIL PEROXIDASE DEFICIENCY; EPXD
- Anemia
- Allergy
- Refractory anemia
- Abnormal eosinophil morphology
More info about EOSINOPHIL PEROXIDASE DEFICIENCY; EPXD
Search interest in EPX
Potential gene panels for EPX gene
EPX Panel
By Fulgent Genetics Fulgent Genetics
This panel specifically test the EPX gene.
More info about this panelIf you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like PRPH PBX1 STAC3 SGSH AKT3 WNK1 WDPCP