EOSINOPHIL PEROXIDASE DEFICIENCY

General Information (adopted from Orphanet):

Synonyms, Signs: PRESENTEY ANOMALY
EOSINOPHIL PEROXIDASE DEFICIENCY, PARTIAL
PEROXIDASE AND PHOSPHOLIPID DEFICIENCY IN EOSINOPHILS
EPXD
Number of Symptoms 4
OrphanetNr:
OMIM Id: 261500
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal recessive inheritance
[Omim]
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
(HPO:0001879) Abnormality of eosinophils 20 / 7739
2
(OMIM) Eosinophil nuclear hypersegmentation, hypogranulation, and negative peroxidase and phospholipid staining 1 / 7739
3
(OMIM) Increased ratio of eosinophil granule core volume to total volume 1 / 7739
4
(HPO:0000007) Autosomal recessive inheritance 2538 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) 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).
Clinical Description OMIM In Yemenite Jews in Israel, Presentey (1969) and Presentey and Szapiro (1969) described a 'new' anomaly of eosinophils characterized by nuclear hypersegmentation, hypogranulation, and negative peroxidase and phospholipid staining.

Lepelley et al. (1987) described the Presentey ...

Molecular genetics OMIM In a man with eosinophil peroxidase deficiency, Romano et al. (1994) identified compound heterozygosity for mutations in the EPX gene (131399.0001-131399.0002).