MCID: ESN009
MIFTS: 25

Eosinophil Peroxidase Deficiency

Categories: Rare diseases, Genetic diseases

Aliases & Classifications for Eosinophil Peroxidase Deficiency

MalaCards integrated aliases for Eosinophil Peroxidase Deficiency:

Name: Eosinophil Peroxidase Deficiency 50 25 54 71 29 13
Presentey Anomaly 50 25 71 69
Peroxidase and Phospholipid Deficiency in Eosinophils 50 25 71
Epxd 50 25 71
Eosinophil Peroxidase Deficiency, Partial 50
Partial Eosinophil Peroxidase Deficiency 71
Eosinophil Peroxidase 13

Characteristics:

OMIM:

54
Inheritance:
autosomal recessive

Miscellaneous:
no clinical manifestations


HPO:

32
eosinophil peroxidase deficiency:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

MedGen 40 C1850000
MeSH 42 D007960
OMIM 54 261500
SNOMED-CT via HPO 65 258211005

Summaries for Eosinophil Peroxidase Deficiency

Genetics Home Reference : 25 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 asthma and allergic rhinitis, and has symptoms including abnormality of eosinophils An important gene associated with Eosinophil Peroxidase Deficiency is EPX (Eosinophil Peroxidase).

OMIM : 54
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.

Related Diseases for Eosinophil Peroxidase Deficiency

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

(show all 13)
id Related Disease Score Top Affiliating Genes
1 asthma 9.8
2 allergic rhinitis 9.7
3 rhinitis 9.7
4 pulmonary eosinophilia 9.7
5 rheumatoid arthritis 9.7
6 arthritis 9.7
7 eosinophilic enteropathy 9.6 EPX MPO
8 cystic fibrosis 9.6
9 bulbomembranous urethral cancer 9.6 EPX MPO
10 clostridium difficile colitis 9.5 EPX MPO
11 pseudohypoaldosteronism, type iid 9.5 EPX MPO
12 facial dermatosis 9.4 EPX MPO
13 central nervous system origin vertigo 9.2 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:

54

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:

32
id Description HPO Frequency HPO Source Accession
1 abnormality of eosinophils 32 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:

id Genetic test Affiliating Genes
1 Eosinophil Peroxidase Deficiency 29

Anatomical Context for Eosinophil Peroxidase Deficiency

Publications for Eosinophil Peroxidase Deficiency

Articles related to Eosinophil Peroxidase Deficiency:

id 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
id 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

GO Terms for Eosinophil Peroxidase Deficiency

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

id 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:

id 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
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 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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