EPXD
MCID: ESN009
MIFTS: 31

Eosinophil Peroxidase Deficiency (EPXD)

Categories: Genetic diseases, Immune diseases, Rare diseases

Aliases & Classifications for Eosinophil Peroxidase Deficiency

MalaCards integrated aliases for Eosinophil Peroxidase Deficiency:

Name: Eosinophil Peroxidase Deficiency 58 54 26 76 38 30 13 6 41
Presentey Anomaly 58 54 26 76 74
Peroxidase and Phospholipid Deficiency in Eosinophils 58 54 26 76
Epxd 58 54 26 76
Eosinophil Peroxidase Deficiency, Partial 58 54
Partial Eosinophil Peroxidase Deficiency 76
Eosinophil Peroxidase 13

Characteristics:

OMIM:

58
Inheritance:
autosomal recessive

Miscellaneous:
no clinical manifestations


HPO:

33
eosinophil peroxidase deficiency:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 58 261500
KEGG 38 H01094
MeSH 45 D007960
MedGen 43 C1850000
SNOMED-CT via HPO 70 258211005
UMLS 74 C1850000

Summaries for Eosinophil Peroxidase Deficiency

Genetics Home Reference : 26 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. An important gene associated with Eosinophil Peroxidase Deficiency is EPX (Eosinophil Peroxidase), and among its related pathways/superpathways is Asthma. Affiliated tissues include thyroid and myeloid, and related phenotype is abnormal eosinophil morphology.

OMIM : 58 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 : 76 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 : 77 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 26)
# Related Disease Score Top Affiliating Genes
1 allergic rhinitis 29.3 EPX MPO
2 asthma 29.3 EPX MPO
3 esophagitis, eosinophilic, 1 10.0
4 esophagitis 10.0
5 rhinitis 9.9
6 pulmonary eosinophilia 9.9
7 hypereosinophilic syndrome 9.9
8 rheumatoid arthritis 9.9
9 arthritis 9.9
10 biliary cirrhosis, primary, 1 9.8
11 ige responsiveness, atopic 9.8
12 cystic fibrosis 9.8
13 myeloperoxidase deficiency 9.8
14 lung cancer susceptibility 3 9.8
15 primary biliary cirrhosis 9.8
16 renal fibrosis 9.8
17 thrombosis 9.8
18 endocarditis 9.8
19 adenocarcinoma 9.8
20 ureteral obstruction 9.8
21 primary biliary cholangitis 9.8
22 eosinophilic granuloma 9.8
23 chronic rhinitis 9.8 EPX MPO
24 collagenous colitis 9.7 EPX MPO
25 proctitis 9.7 EPX MPO
26 vernal conjunctivitis 9.7 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

Human phenotypes related to Eosinophil Peroxidase Deficiency:

33
# Description HPO Frequency HPO Source Accession
1 abnormal eosinophil morphology 33 HP:0001879

Symptoms via clinical synopsis from OMIM:

58
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

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 30 EPX

Anatomical Context for Eosinophil Peroxidase Deficiency

MalaCards organs/tissues related to Eosinophil Peroxidase Deficiency:

42
Thyroid, Myeloid

Publications for Eosinophil Peroxidase Deficiency

Articles related to Eosinophil Peroxidase Deficiency:

# Title Authors Year
1
Eosinophil peroxidase deficiency in New Zealand white mice. ( 8753841 )
1996
2
A case of eosinophil peroxidase deficiency. ( 8534766 )
1995
3
Hereditary eosinophil peroxidase deficiency: immunochemical and spectroscopic studies and evidence for a compound heterozygosity of the defect. ( 7809065 )
1994
4
Eosinophilia in rheumatoid arthritis masked by eosinophil peroxidase deficiency. ( 7682487 )
1993
5
Eosinophil peroxidase deficiency: morphological and immunocytochemical studies of the eosinophil-specific granules. ( 1450416 )
1992
6
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
7
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:

76
# Symbol AA change Variation ID SNP ID
1 EPX p.Arg286His VAR_015376 rs121434566

ClinVar genetic disease variations for Eosinophil Peroxidase Deficiency:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 EPX NM_000502.6(EPX): c.1942G> A (p.Asp648Asn) single nucleotide variant Affects rs141055426 GRCh37 Chromosome 17, 56280675: 56280675
2 EPX NM_000502.6(EPX): c.1942G> A (p.Asp648Asn) single nucleotide variant Affects rs141055426 GRCh38 Chromosome 17, 58203314: 58203314
3 EPX NM_000502.5(EPX): c.857G> A (p.Arg286His) single nucleotide variant Affects rs121434566 GRCh37 Chromosome 17, 56274355: 56274355
4 EPX NM_000502.5(EPX): c.857G> A (p.Arg286His) single nucleotide variant Affects rs121434566 GRCh38 Chromosome 17, 58196994: 58196994
5 EPX NM_000502.5(EPX): c.1541dup (p.Ile515Hisfs) duplication Affects rs397518446 GRCh37 Chromosome 17, 56277589: 56277589
6 EPX NM_000502.5(EPX): c.1541dup (p.Ile515Hisfs) duplication Affects rs397518446 GRCh38 Chromosome 17, 58200228: 58200228

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:

38
# 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 9.4 EPX MPO
2 neutrophil degranulation GO:0043312 9.37 EPX MPO
3 defense response to bacterium GO:0042742 9.32 EPX MPO
4 defense response GO:0006952 9.26 EPX MPO
5 response to oxidative stress GO:0006979 9.16 EPX MPO
6 cellular oxidant detoxification GO:0098869 8.96 EPX MPO
7 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
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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