Eosinophil Peroxidase Deficiency (EPXD)

Alias:
Presentey Anomaly
Peroxidase and Phospholipid Deficiency in Eosinophils
Epxd
Eosinophil Peroxidase Deficiency, Partial
Partial Eosinophil Peroxidase Deficiency
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Eosinophil Peroxidase Deficiency, also known as presentey anomaly, is related to hypereosinophilic syndrome and churg-strauss syndrome. An important gene associated with Eosinophil Peroxidase Deficiency is EPX (Eosinophil Peroxidase). Related phenotype is eosinophil nuclear hypersegmentation.
Related ID:

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AR
Unknown
--
2
18
12

Medical Symptom

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Categorization
Description
HPO Frequency
Orphanet Frequency
HPO Source Accession
No data available

Gene & Mutation

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Gene
Function
Score
Mutations
No data available

Related Drugs

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CAS Number
Status
Phase
No data available

Disease Model

Category
Name
MGI
Related Gene
Strain of Origin
Publications
No data available

References Literature

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PMID
Journal
Year
IF
No Data Found!
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