Eosinophil peroxidase deficiency

Synonyms: EOSINOPHIL PEROXIDASE DEFICIENCY, PARTIAL; PRESENTEY ANOMALY; Peroxidase and phospholipid deficiency in eosinophils

Summary

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. [from OMIM]

Available tests

4 tests are in the database for this condition.

Clinical tests (4 available)

Molecular Genetics Tests

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Associated genes Help
Genes reported to contribute to the condition.

EPX
5 tests
Also known as: EPO, EPP, EPX-PEN, EPXD, EPX
Summary: eosinophil peroxidase

Imported from Human Phenotype Ontology (HPO)

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Abnormality of the immune system
- Eosinophil nuclear hypersegmentation
  Eosinophil nuclear hypersegmentation
  - MedGen UID: 1814395
  - Concept ID: C5676831
  - Finding: Finding
  Abnormality of the immune system
  See: Feature record | Search on this feature

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Clinical resources

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