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.
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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 % |
Sources and references
You can check the following sources for additional information.
OMIM MESH Rare Disease Search EngineIf you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE IA; HSAN1A WARSAW BREAKAGE SYNDROME; WABS VAS DEFERENS, CONGENITAL BILATERAL APLASIA OF; CBAVD MICROCEPHALY AND CHORIORETINOPATHY, AUTOSOMAL RECESSIVE, 2; MCCRP2 THIAMINE-RESPONSIVE MEGALOBLASTIC ANEMIA SYNDROME; TRMA MECKEL SYNDROME, TYPE 1; MKS1
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