MCID: ESN009
MIFTS: 30

Eosinophil Peroxidase Deficiency

Categories: Genetic diseases, Rare diseases

Aliases & Classifications for Eosinophil Peroxidase Deficiency

MalaCards integrated aliases for Eosinophil Peroxidase Deficiency:

Name: Eosinophil Peroxidase Deficiency 53 49 24 71 36 28 13
Presentey Anomaly 53 49 24 71 69
Peroxidase and Phospholipid Deficiency in Eosinophils 53 49 24 71
Epxd 53 49 24 71
Eosinophil Peroxidase Deficiency, Partial 53 49
Partial Eosinophil Peroxidase Deficiency 71
Eosinophil Peroxidase 13

Characteristics:

OMIM:

53
Inheritance:
autosomal recessive

Miscellaneous:
no clinical manifestations


HPO:

31
eosinophil peroxidase deficiency:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 53 261500
MedGen 39 C1850000
MeSH 41 D007960
KEGG 36 H01094
SNOMED-CT via HPO 65 258211005
UMLS 69 C1850000

Summaries for Eosinophil Peroxidase Deficiency

Genetics Home Reference : 24 Eosinophil peroxidase deficiency is a condition that affects certain white blood cells called eosinophils but causes no health problems in affected individuals. Eosinophils aid in the body's immune response. During a normal immune response, these cells are turned on (activated), and they travel to the area of injury or inflammation. The cells then release proteins and other compounds that have a toxic effect on severely damaged cells or invading organisms. One of these proteins is called eosinophil peroxidase. In eosinophil peroxidase deficiency, eosinophils have little or no eosinophil peroxidase. A lack of this protein does not seem to affect the eosinophils' ability to carry out an immune response.

MalaCards based summary : Eosinophil Peroxidase Deficiency, also known as presentey anomaly, is related to allergic rhinitis and asthma, and has symptoms including abnormality of eosinophils An important gene associated with Eosinophil Peroxidase Deficiency is EPX (Eosinophil Peroxidase), and among its related pathways/superpathways is Asthma. Affiliated tissues include myeloid and thyroid.

OMIM : 53 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. (261500)

UniProtKB/Swiss-Prot : 71 Eosinophil peroxidase deficiency: A rare abnormality without clinical symptoms characterized by decreased or absent peroxidase activity and decreased volume of the granule matrix in eosinophils.

Wikipedia : 72 Eosinophil peroxidase is an enzyme found within the eosinophil granulocytes, innate immune cells of... more...

Related Diseases for Eosinophil Peroxidase Deficiency

Diseases related to Eosinophil Peroxidase Deficiency via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 11)
# Related Disease Score Top Affiliating Genes
1 allergic rhinitis 29.1 EPX MPO
2 asthma 28.9 EPX MPO
3 rhinitis 9.8
4 pulmonary eosinophilia 9.8
5 rheumatoid arthritis 9.8
6 arthritis 9.8
7 chronic rhinitis 9.7 EPX MPO
8 collagenous colitis 9.7 EPX MPO
9 proctitis 9.7 EPX MPO
10 vernal conjunctivitis 9.6 EPX MPO
11 inflammatory bowel disease 9.5 EPX MPO

Graphical network of the top 20 diseases related to Eosinophil Peroxidase Deficiency:



Diseases related to Eosinophil Peroxidase Deficiency

Symptoms & Phenotypes for Eosinophil Peroxidase Deficiency

Symptoms via clinical synopsis from OMIM:

53
Laboratory Abnormalities:
decreased or absent peroxidase activity
decreased volume of the granule matrix
eosinophil nuclear hypersegmentation, hypogranulation, and negative peroxidase and phospholipid staining
increase in the ratio between the size of the matrix and the core of the specific granules seen on em


Clinical features from OMIM:

261500

Human phenotypes related to Eosinophil Peroxidase Deficiency:

31
# Description HPO Frequency HPO Source Accession
1 abnormality of eosinophils 31 HP:0001879

Drugs & Therapeutics for Eosinophil Peroxidase Deficiency

Search Clinical Trials , NIH Clinical Center for Eosinophil Peroxidase Deficiency

Genetic Tests for Eosinophil Peroxidase Deficiency

Genetic tests related to Eosinophil Peroxidase Deficiency:

# Genetic test Affiliating Genes
1 Eosinophil Peroxidase Deficiency 28 EPX

Anatomical Context for Eosinophil Peroxidase Deficiency

MalaCards organs/tissues related to Eosinophil Peroxidase Deficiency:

38
Myeloid, Thyroid

Publications for Eosinophil Peroxidase Deficiency

Articles related to Eosinophil Peroxidase Deficiency:

# Title Authors Year
1
Eosinophilic peroxidase deficiency: Identification of a point mutation (D648N) and prediction of structural changes. ( 11241847 )
2001
2
Eosinophil peroxidase deficiency in New Zealand white mice. ( 8753841 )
1996
3
A case of eosinophil peroxidase deficiency. ( 8534766 )
1995
4
Hereditary eosinophil peroxidase deficiency: immunochemical and spectroscopic studies and evidence for a compound heterozygosity of the defect. ( 7809065 )
1994
5
Eosinophilia in rheumatoid arthritis masked by eosinophil peroxidase deficiency. ( 7682487 )
1993
6
Eosinophil peroxidase deficiency: morphological and immunocytochemical studies of the eosinophil-specific granules. ( 1450416 )
1992
7
Oxidation of homovanillic acid as a selective assay for eosinophil peroxidase in eosinophil peroxidase-myeloperoxidase mixtures and its use in the detection of human eosinophil peroxidase deficiency. ( 1849156 )
1991
8
Eosinophil peroxidase deficiency detected by the Technicon H 1 system. ( 3355901 )
1988

Variations for Eosinophil Peroxidase Deficiency

UniProtKB/Swiss-Prot genetic disease variations for Eosinophil Peroxidase Deficiency:

71
# Symbol AA change Variation ID SNP ID
1 EPX p.Arg286His VAR_015376 rs121434566

Expression for Eosinophil Peroxidase Deficiency

Search GEO for disease gene expression data for Eosinophil Peroxidase Deficiency.

Pathways for Eosinophil Peroxidase Deficiency

Pathways related to Eosinophil Peroxidase Deficiency according to KEGG:

36
# Name Kegg Source Accession
1 Asthma hsa05310

GO Terms for Eosinophil Peroxidase Deficiency

Biological processes related to Eosinophil Peroxidase Deficiency according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 oxidation-reduction process GO:0055114 9.37 EPX MPO
2 neutrophil degranulation GO:0043312 9.32 EPX MPO
3 defense response GO:0006952 9.26 EPX MPO
4 response to oxidative stress GO:0006979 9.16 EPX MPO
5 cellular oxidant detoxification GO:0098869 8.96 EPX MPO
6 hydrogen peroxide catabolic process GO:0042744 8.62 EPX MPO

Molecular functions related to Eosinophil Peroxidase Deficiency according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 oxidoreductase activity GO:0016491 9.16 EPX MPO
2 heme binding GO:0020037 8.96 EPX MPO
3 peroxidase activity GO:0004601 8.62 EPX MPO

Sources for Eosinophil Peroxidase Deficiency

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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