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

SOURCES: OMIM MESH


Potential gene panels for EPX gene

EPX Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the EPX gene.

More info about this panel
United States.

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