Eosinophil Peroxidase Deficiency; Epxd

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.

Clinical Features

Phenotypes and symptoms related to Eosinophil Peroxidase Deficiency; Epxd

  • Anemia
  • Allergy
  • Refractory anemia
  • Abnormal eosinophil morphology

Incidence and onset information

— Currently we don't have prevalence information about this disease (Not enough data available about incidence and published cases.)
No data available about the known clinical features onset.

Alternative names

Eosinophil Peroxidase Deficiency; Epxd Is also known as peroxidase and phospholipid deficiency in eosinophils, eosinophil peroxidase deficiency, partial, presentey anomaly.

Researches and researchers

Currently, we don't have any information about doctors, researches or researchers related to this disease. Please contact us if you would like to appear here.

Eosinophil Peroxidase Deficiency; Epxd Recommended genes panels

Panel Name, Specifity and genes Tested/covered
EPX.

By Fulgent Genetics Fulgent Genetics (United States).

EPX
Specificity
100 %
Genes
100 %

You can get up to -7 more panels with our dedicated tool

Learn more

Sources and references

You can check the following sources for additional information.

OMIM MESH Rare Disease Search Engine

If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like NIEMANN-PICK DISEASE, TYPE C2; NPC2 VAS DEFERENS, CONGENITAL BILATERAL APLASIA OF, X-LINKED; CBAVDX POLYCYSTIC KIDNEY DISEASE 4 WITH OR WITHOUT HEPATIC DISEASE; PKD4 HAJDU-CHENEY SYNDROME; HJCYS CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ib; CDG1B ALPHA-2-MACROGLOBULIN DEFICIENCY; A2MD