Details of Disease | DrugMAP

General Information of Disease (ID: DISH786O)

Disease Name	Eosinophil peroxidase deficiency
Synonyms	peroxidase and phospholipid deficiency in eosinophils; eosinophil peroxidase deficiency, Partial; eosinophil peroxidase deficiency, partial; presentey anomaly; EPXD; Presentey anomaly; eosinophil peroxidase deficiency
Definition	A rare abnormality of eosinophil granulocytes characterized by decreased or absent peroxidase activity and decreased volume of the granule matrix.
Disease Hierarchy	DISCPWH9: Autosomal recessive disease DIS17G9I: Leukocyte disorder DISH786O: Eosinophil peroxidase deficiency
Disease Identifiers	MONDO ID MONDO_0043364 MESH ID C564893 UMLS CUI C1850000 OMIM ID 261500 MedGen ID 342386 SNOMED CT ID 711160007

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 1 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
EPX	TTCIO0M	Strong	Genetic Variation	[1]
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This Disease Is Related to 1 DME Molecule(s)

Gene Name	DME ID	Evidence Level	Mode of Inheritance	REF
EPX	DETE84Z	No Known	Autosomal recessive	[2]
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This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
EPX	OTFNDFOK	No Known	Autosomal recessive	[2]
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References

1	Hereditary eosinophil peroxidase deficiency: immunochemical and spectroscopic studies and evidence for a compound heterozygosity of the defect.Proc Natl Acad Sci U S A. 1994 Dec 20;91(26):12496-500. doi: 10.1073/pnas.91.26.12496.
2	Classification of Genes: Standardized Clinical Validity Assessment of Gene-Disease Associations Aids Diagnostic Exome Analysis and Reclassifications. Hum Mutat. 2017 May;38(5):600-608. doi: 10.1002/humu.23183. Epub 2017 Feb 13.