EPXD
MCID: ESN009
MIFTS: 30

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 56 52 25 73 36 29 13 6 39
Presentey Anomaly 56 52 25 73 71
Peroxidase and Phospholipid Deficiency in Eosinophils 56 52 25 73
Epxd 56 52 25 73
Eosinophil Peroxidase Deficiency, Partial 56 52
Partial Eosinophil Peroxidase Deficiency 73

Characteristics:

OMIM:

56
Inheritance:
autosomal recessive

Miscellaneous:
no clinical manifestations


HPO:

31
eosinophil peroxidase deficiency:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 56 261500
KEGG 36 H01094
MeSH 43 D007960
MedGen 41 C1850000
SNOMED-CT via HPO 68 258211005
UMLS 71 C1850000

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. Because eosinophil peroxidase deficiency does not cause any health problems, this condition is often diagnosed when blood tests are done for other reasons or when a family member has been diagnosed with the condition.

MalaCards based summary : Eosinophil Peroxidase Deficiency, also known as presentey anomaly, is related to hypereosinophilic syndrome and rheumatoid arthritis. An important gene associated with Eosinophil Peroxidase Deficiency is EPX (Eosinophil Peroxidase), and among its related pathways/superpathways is Asthma. Affiliated tissues include thyroid, testes and myeloid, and related phenotype is abnormal eosinophil morphology.

OMIM : 56 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)

KEGG : 36 Eosinophil peroxidase deficiency is a rare autosomal recessive abnormality of eosinophil granulocytes characterized by decreased or absent peroxidase activity and decreased volume of the granule matrix. Eosinophils are a hallmark of allergic diseases and helminth infection.

UniProtKB/Swiss-Prot : 73 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 : 74 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 hypereosinophilic syndrome 29.1 MPO EPX
2 rheumatoid arthritis 9.9
3 arthritis 9.9
4 vernal conjunctivitis 9.6 MPO EPX
5 conjunctivitis 9.6 MPO EPX
6 chronic rhinitis 9.6 MPO EPX
7 collagenous colitis 9.6 MPO EPX
8 pollen allergy 9.5 MPO EPX
9 proctitis 9.5 MPO EPX
10 allergic rhinitis 9.4 MPO EPX
11 respiratory failure 9.2 MPO EPX

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:

31
# Description HPO Frequency HPO Source Accession
1 abnormal eosinophil morphology 31 HP:0001879

Symptoms via clinical synopsis from OMIM:

56
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 29 EPX

Anatomical Context for Eosinophil Peroxidase Deficiency

MalaCards organs/tissues related to Eosinophil Peroxidase Deficiency:

40
Thyroid, Testes, Myeloid

Publications for Eosinophil Peroxidase Deficiency

Articles related to Eosinophil Peroxidase Deficiency:

(show all 18)
# Title Authors PMID Year
1
Hereditary eosinophil peroxidase deficiency: immunochemical and spectroscopic studies and evidence for a compound heterozygosity of the defect. 61 56 6
7809065 1994
2
Eosinophilic peroxidase deficiency: Identification of a point mutation (D648N) and prediction of structural changes. 6 56
11241847 2001
3
Eosinophil peroxidase deficiency: morphological and immunocytochemical studies of the eosinophil-specific granules. 61 56
1450416 1992
4
[Peroxidase deficiency in eosinophils: an optical and electron microscopy cytologic study apropos of a case]. 56 61
3419898 1988
5
Partial deficiency of eosinophil peroxidase. 61 56
3814833 1987
6
Total peroxidase deficiency in eosinophils: a report on twin sisters, one with a refractory anaemia. 56
2820788 1987
7
Deficiency of eosinophil peroxidase detected by automated cytochemistry. 56
3122494 1987
8
Ultrastructure of human eosinophils genetically lacking peroxidase. 56
6429999 1984
9
Peroxidase and phospholipid deficiency in human eosinophilic granulocytes--a marker in population genetics. 56
6178618 1982
10
Partial and severe peroxidase and phospholipid deficiency in eosinophils. Cytochemical and genetic considerations. 56
4996389 1970
11
Morphologic observations and genetic follow-up of a familial anomaly of eosinophils. 56
5774660 1969
12
Hereditary deficiency of peroxidase and phospholipids in eosinophilic granulocytes. 56
4982578 1969
13
Expression and characterization of recombinant human eosinophil peroxidase. Impact of the R286H substitution on the biosynthesis and activity of the enzyme. 61
10848988 2000
14
Eosinophil peroxidase deficiency in New Zealand white mice. 61
8753841 1996
15
A case of eosinophil peroxidase deficiency. 61
8534766 1995
16
Eosinophilia in rheumatoid arthritis masked by eosinophil peroxidase deficiency. 61
7682487 1993
17
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. 61
1849156 1991
18
Eosinophil peroxidase deficiency detected by the Technicon H 1 system. 61
3355901 1988

Variations for Eosinophil Peroxidase Deficiency

ClinVar genetic disease variations for Eosinophil Peroxidase Deficiency:

6 ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 EPX NM_000502.6(EPX):c.857G>A (p.Arg286His)SNV Affects 16615 rs121434566 17:56274355-56274355 17:58196994-58196994
2 EPX NM_000502.4(EPX):c.1541dupG (p.Ile515Hisfs)duplication Affects 16616 rs397518446 17:56277584-56277585 17:58200223-58200224
3 EPX NM_000502.6(EPX):c.1942G>A (p.Asp648Asn)SNV Affects 208340 rs141055426 17:56280675-56280675 17:58203314-58203314

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

73
# 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 9.4 MPO EPX
2 neutrophil degranulation GO:0043312 9.37 MPO EPX
3 defense response to bacterium GO:0042742 9.32 MPO EPX
4 defense response GO:0006952 9.26 MPO EPX
5 response to oxidative stress GO:0006979 9.16 MPO EPX
6 cellular oxidant detoxification GO:0098869 8.96 MPO EPX
7 hydrogen peroxide catabolic process GO:0042744 8.62 MPO EPX

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 MPO EPX
2 heme binding GO:0020037 8.96 MPO EPX
3 peroxidase activity GO:0004601 8.62 MPO EPX

Sources for Eosinophil Peroxidase Deficiency

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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