Eosinophil peroxidase deficiency

Preferred Label : Eosinophil peroxidase deficiency;

Symbol : EPXD;

CISMeF acronym : EPXD;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Peroxidase and phospholipid deficiency in eosinophils; Presentey anomaly; Eosinophil peroxidase deficiency, partial;

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).;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the eosinophil peroxidase gene (EPX, 131399.0001);

Laboratory abnormalities : Increase in the ratio between the size of the matrix and the core of the specific granules seen on EM; Decreased volume of the granule matrix; Decreased or absent peroxidase activity; Eosinophil nuclear hypersegmentation, hypogranulation, and negative peroxidase and phospholipid staining;

Prefixed ID : #261500;

Details

Origin ID

261500;

UMLS CUI

C1850000;

Automatic exact mappings (from CISMeF team)
- Eosinophil peroxidase deficiency (disorder) [SNOMED CT concept]
- presentey anomaly [MeSH concept]
- presentey anomaly [MeSH Supplementary Concept]
Genes related to phenotype
- Eosinophil peroxidase [OMIM gene]
HPO term(s)
- Abnormal eosinophil morphology [HPO term]
- Autosomal recessive inheritance [HPO term]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Eosinophil peroxidase deficiency (disorder) [SNOMED CT concept]
- presentey anomaly [MeSH Supplementary Concept]
- presentey anomaly [MeSH concept]

Keyword's position in hierarchy(ies) :

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