MCID: MYL013
MIFTS: 46

Myeloperoxidase Deficiency

Categories: Genetic diseases, Rare diseases, Blood diseases

Aliases & Classifications for Myeloperoxidase Deficiency

MalaCards integrated aliases for Myeloperoxidase Deficiency:

Name: Myeloperoxidase Deficiency 54 50 56 71 29 13 69
Mpo Deficiency 50 56 71 52
Mpod 71

Characteristics:

Orphanet epidemiological data:

56
myeloperoxidase deficiency
Age of onset: All ages; Age of death: normal life expectancy;

OMIM:

54
Miscellaneous:
estimated frequency 1/2000-1/4000 individuals
majority of individuals are healthy

Inheritance:
autosomal recessive


HPO:

32
myeloperoxidase deficiency:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 56  
Rare immunological diseases


External Ids:

OMIM 54 254600
Orphanet 56 ORPHA2587
UMLS via Orphanet 70 C0398595
ICD10 via Orphanet 34 E80.3
MedGen 40 C0398595
MeSH 42 D002177

Summaries for Myeloperoxidase Deficiency

UniProtKB/Swiss-Prot : 71 Myeloperoxidase deficiency: A disorder characterized by decreased myeloperoxidase activity in neutrophils and monocytes that results in disseminated candidiasis.

MalaCards based summary : Myeloperoxidase Deficiency, also known as mpo deficiency, is related to leukemia and measles, and has symptoms including abnormality of metabolism/homeostasis, abnormality of the immune system and abnormality of blood and blood-forming tissues. An important gene associated with Myeloperoxidase Deficiency is MPO (Myeloperoxidase), and among its related pathways/superpathways are Protein processing in endoplasmic reticulum and Calnexin/calreticulin cycle. The drugs Iron and Vitamin A have been mentioned in the context of this disorder. Affiliated tissues include neutrophil, monocytes and lung.

Wikipedia : 72 Myeloperoxidase deficiency is an autosomal recessive genetic disorder featuring deficiency, either in... more...

Description from OMIM: 254600

Related Diseases for Myeloperoxidase Deficiency

Graphical network of the top 20 diseases related to Myeloperoxidase Deficiency:



Diseases related to Myeloperoxidase Deficiency

Symptoms & Phenotypes for Myeloperoxidase Deficiency

Symptoms via clinical synopsis from OMIM:

54

Laboratory- Abnormalities:
normal eosinophil peroxidase activity
absence of peroxidase staining in neutrophils and monocytes

Hematology:
decreased myeloperoxidase activity in neutrophils and monocytes

Immunology:
disseminated candidiasis


Clinical features from OMIM:

254600

Human phenotypes related to Myeloperoxidase Deficiency:

32
id Description HPO Frequency HPO Source Accession
1 abnormality of metabolism/homeostasis 32 HP:0001939
2 abnormality of the immune system 32 HP:0002715
3 abnormality of blood and blood-forming tissues 32 HP:0001871

Drugs & Therapeutics for Myeloperoxidase Deficiency

Drugs for Myeloperoxidase Deficiency (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 28)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Iron Approved Phase 2 7439-89-6 23925
2
Vitamin A Approved, Nutraceutical, Vet_approved Phase 2 11103-57-4, 68-26-8 445354
3 Anticoagulants Phase 2
4 Blood Substitutes Phase 2
5 Dextrans Phase 2
6 Ferric Compounds Phase 2
7 Ferric oxide, saccharated Phase 2
8 Hematinics Phase 2
9 Iron-Dextran Complex Phase 2
10 Micronutrients Phase 2
11 Plasma Substitutes Phase 2
12 Retinol palmitate Phase 2
13 Trace Elements Phase 2
14 retinol Nutraceutical Phase 2
15
Selenium Approved, Vet_approved 7782-49-2
16
Lactulose Approved 4618-18-2 11333
17
Mannitol Approved, Investigational 69-65-8 453 6251
18
Zinc Approved 7440-66-6 32051 23994
19 Zinc sulfate Approved 7733-02-0
20
acetic acid Approved, Nutraceutical 64-19-7 176
21 Antioxidants
22 Protective Agents
23 Adjuvants, Immunologic
24 Astringents
25 Dermatologic Agents
26
Retinol acetate 127-47-9 10245972
27 Vitamins
28 Selenium Supplement Nutraceutical

Interventional clinical trials:


id Name Status NCT ID Phase Drugs
1 Intravenous Ferric Carboxymaltose (FCM) Versus IV Iron Sucrose or IV Iron Dextran in Treating Iron Deficiency Anemia in Women Unknown status NCT01290315 Phase 2 Ferric Carboxymaltose (FCM);Iron Sucrose / Iron Dextran
2 Prospective, Non-randomized Observational Trial of Selenium in Cardiac Surgery Completed NCT01394068
3 Optimization of Selenoprotein P in Chinese Subjects Completed NCT00428649
4 Molecular Basis of Human Phagocyte Interactions With Bacterial Pathogens Recruiting NCT00339287
5 Effects of EED on Zn Absorption and Retention in Children From a Standard Dose Recruiting NCT02760095 3 mg zinc sulfate supplement;0.5 mg of 13C10-retinyl-acetate
6 Effects of EED on Zn Absorption and Retention in Children From a MNP Recruiting NCT02758444

Search NIH Clinical Center for Myeloperoxidase Deficiency

Genetic Tests for Myeloperoxidase Deficiency

Genetic tests related to Myeloperoxidase Deficiency:

id Genetic test Affiliating Genes
1 Myeloperoxidase Deficiency 29

Anatomical Context for Myeloperoxidase Deficiency

MalaCards organs/tissues related to Myeloperoxidase Deficiency:

39
Neutrophil, Monocytes, Lung, Testes, Liver, Endothelial, Myeloid

Publications for Myeloperoxidase Deficiency

Articles related to Myeloperoxidase Deficiency:

(show top 50) (show all 105)
id Title Authors Year
1
Case report of myeloperoxidase deficiency associated with disseminated paracoccidioidomycosis and peritoneal tuberculosis. ( 28954085 )
2017
2
A nonsense mutation in the myeloperoxidase gene is responsible for hereditary myeloperoxidase deficiency in an Italian hound dog. ( 27296514 )
2016
3
Complete Myeloperoxidase Deficiency: Beware the "False-Positive" Dihydrorhodamine Oxidation. ( 27301573 )
2016
4
Myeloperoxidase deficiency enhances zymosan phagocytosis associated with up-regulation of surface expression of CD11b in mouse neutrophils. ( 27701922 )
2016
5
Homozygous Calreticulin mutations in patients with myelofibrosis lead to acquired myeloperoxidase deficiency. ( 27013444 )
2016
6
Myeloperoxidase deficiency attenuates nitrogen mustard-induced skin injuries. ( 24631667 )
2014
7
Endothelial function in a mouse model of myeloperoxidase deficiency. ( 24707472 )
2014
8
Diagnostic assays for myeloperoxidase and myeloperoxidase deficiency. ( 24504973 )
2014
9
Myeloperoxidase deficiency ameliorates progression of chronic kidney disease in mice. ( 24990898 )
2014
10
Myeloperoxidase deficiency induces MIP-2 production via ERK activation in zymosan-stimulated mouse neutrophils. ( 23438680 )
2013
11
A novel mutation in the myeloperoxidase gene in a Chinese female with complete myeloperoxidase deficiency: the role of nonsense-mediated mRNA decay. ( 23228855 )
2013
12
Myeloperoxidase deficiency in mice exacerbates lung inflammation induced by nonviable Candida albicans. ( 23955550 )
2013
13
Myeloperoxidase deficiency: the secret under the flag of unstained cell. ( 24385801 )
2013
14
Myeloperoxidase deficiency preserves vasomotor function in humans. ( 21724624 )
2012
15
Myeloperoxidase deficiency in dogs observed with the ADVIAAr120. A retrospective study. ( 22290548 )
2010
16
Association of primary myeloperoxidase deficiency and myeloproliferative neoplasm. ( 21088365 )
2010
17
Myeloperoxidase deficiency attenuates lipopolysaccharide-induced acute lung inflammation and subsequent cytokine and chemokine production. ( 19494324 )
2009
18
Lethal candida sepsis associated with myeloperoxidase deficiency and pre-eclampsia. ( 17614858 )
2007
19
Diagnostic assays for myeloperoxidase deficiency. ( 18453132 )
2007
20
Chronic granulomatous disease (CGD) and complete myeloperoxidase deficiency both yield strongly reduced dihydrorhodamine 123 test signals but can be easily discerned in routine testing for CGD. ( 17384005 )
2007
21
Arginine to cysteine mutation (R499C) found in a Japanese patient with complete myeloperoxidase deficiency. ( 17017121 )
2006
22
Genetic studies on myeloperoxidase deficiency in Italy. ( 15507752 )
2004
23
Myeloperoxidase deficiency enhances inflammation after allogeneic marrow transplantation. ( 15020295 )
2004
24
Novel missense mutation found in a Japanese patient with myeloperoxidase deficiency. ( 14980716 )
2004
25
Genetic characterization of myeloperoxidase deficiency in Italy. ( 15108282 )
2004
26
Prevalence of inherited myeloperoxidase deficiency in Japan. ( 12953846 )
2003
27
Noma-like gangrenous cheilitis in a child with cyclic neutropenia associated with myeloperoxidase deficiency. ( 14651574 )
2003
28
Myeloperoxidase has directly-opposed effects on nitration reaction--study on myeloperoxidase-deficient patient and myeloperoxidase-knockout mice. ( 12797467 )
2003
29
Cavitating BOOP associated with myeloperoxidase deficiency in a floor cleaner with an incidental heavy exposure to benzalkonium compounds. ( 14646295 )
2003
30
Differences in the accumulation of ascorbic acid in normal, myeloperoxidase deficient and NADPH-oxidase deficient granulocytes. ( 12214562 )
2002
31
Defects in leukocyte-mediated initiation of lipid peroxidation in plasma as studied in myeloperoxidase-deficient subjects: systematic identification of multiple endogenous diffusible substrates for myeloperoxidase in plasma. ( 11861298 )
2002
32
Low-density lipoprotein modification by normal, myeloperoxidase-deficient and NADPH oxidase-deficient granulocytes and the impact of redox active transition metal ions. ( 12189057 )
2002
33
Characterization of nitric oxide consumption pathways by normal, chronic granulomatous disease and myeloperoxidase-deficient human neutrophils. ( 12421972 )
2002
34
Increased atherosclerosis in myeloperoxidase-deficient mice. ( 11181641 )
2001
35
Disseminated fungal infection associated with myeloperoxidase deficiency in a premature neonate. ( 11055615 )
2000
36
Psoriasis and myeloperoxidase deficiency. ( 10971069 )
2000
37
[Myeloperoxidase deficiency]. ( 11212684 )
2000
38
Consequences of total and subtotal myeloperoxidase deficiency: risk or benefit ? ( 11111115 )
2000
39
Quality control in the endoplasmic reticulum: lessons from hereditary myeloperoxidase deficiency. ( 10482305 )
1999
40
Myeloperoxidase deficiency associated with atypical oral candidiasis: A clinical report. ( 10479248 )
1999
41
Pattern of inheritance in hereditary myeloperoxidase deficiency associated with the R569W missense mutation. ( 9468285 )
1998
42
[Myeloperoxidase deficiency]. ( 9833429 )
1998
43
A novel form of hereditary myeloperoxidase deficiency linked to endoplasmic reticulum/proteasome degradation. ( 9637725 )
1998
44
Clinical manifestation of myeloperoxidase deficiency. ( 9766845 )
1998
45
Prevalence of myeloperoxidase deficiency: population studies using Bayer-Technicon automated hematology. ( 9766844 )
1998
46
Biochemical and molecular characterization of hereditary myeloperoxidase deficiency. ( 9354683 )
1997
47
Myeloperoxidase deficiency manifesting as pustular candidal dermatitis. ( 9114158 )
1997
48
Idiopathic myelofibrosis with neutrophil myeloperoxidase deficiency: a case report. ( 9299865 )
1997
49
Phagocytic activity and oxidative burst of granulocytes in persons with myeloperoxidase deficiency. ( 8960464 )
1996
50
Pustular psoriasis in a patient with myeloperoxidase deficiency. ( 8944359 )
1996

Variations for Myeloperoxidase Deficiency

UniProtKB/Swiss-Prot genetic disease variations for Myeloperoxidase Deficiency:

71
id Symbol AA change Variation ID SNP ID
1 MPO p.Tyr173Cys VAR_015377 rs78950939
2 MPO p.Met251Thr VAR_015378 rs56378716
3 MPO p.Arg569Trp VAR_015379 rs119468010

ClinVar genetic disease variations for Myeloperoxidase Deficiency:

6
id Gene Variation Type Significance SNP ID Assembly Location
1 MPO NM_000250.1(MPO): c.1705C> T (p.Arg569Trp) single nucleotide variant Pathogenic rs119468010 GRCh37 Chromosome 17, 56350196: 56350196
2 MPO NM_000250.1(MPO): c.518A> G (p.Tyr173Cys) single nucleotide variant Pathogenic rs78950939 GRCh37 Chromosome 17, 56356914: 56356914
3 MPO NM_000250.1(MPO): c.752T> C (p.Met251Thr) single nucleotide variant Pathogenic rs56378716 GRCh37 Chromosome 17, 56356502: 56356502
4 MPO NM_000250.1(MPO): c.1555_1568delATGGAACCCAACCC (p.Met519Profs) deletion Pathogenic/Likely pathogenic rs536522394 GRCh37 Chromosome 17, 56350828: 56350841
5 MPO NM_000250.1(MPO): c.995C> T (p.Ala332Val) single nucleotide variant Pathogenic rs28730837 GRCh37 Chromosome 17, 56355397: 56355397
6 MPO NM_000250.1(MPO): c.1715T> G (p.Leu572Trp) single nucleotide variant Pathogenic rs119469012 GRCh37 Chromosome 17, 56350186: 56350186
7 MPO NM_000250.1(MPO): c.2031-2A> C single nucleotide variant Pathogenic rs35897051 GRCh37 Chromosome 17, 56348226: 56348226
8 MPO NM_000250.1(MPO): c.1501G> A (p.Gly501Ser) single nucleotide variant Pathogenic rs119469013 GRCh37 Chromosome 17, 56350895: 56350895
9 MPO NM_000250.1(MPO): c.1495C> T (p.Arg499Cys) single nucleotide variant Pathogenic rs119469014 GRCh37 Chromosome 17, 56350901: 56350901

Expression for Myeloperoxidase Deficiency

Search GEO for disease gene expression data for Myeloperoxidase Deficiency.

Pathways for Myeloperoxidase Deficiency

Pathways related to Myeloperoxidase Deficiency according to GeneCards Suite gene sharing:

id Super pathways Score Top Affiliating Genes
1 11.48 CALR CANX
2
Show member pathways
11.09 CALR CANX
3 10.98 CALR CANX MPO
4 10.35 CALR CANX

GO Terms for Myeloperoxidase Deficiency

Cellular components related to Myeloperoxidase Deficiency according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 extracellular exosome GO:0070062 9.56 CALR CANX CAT MPO
2 intracellular membrane-bounded organelle GO:0043231 9.33 CALR CAT MPO
3 integral component of lumenal side of endoplasmic reticulum membrane GO:0071556 8.96 CALR CANX
4 smooth endoplasmic reticulum GO:0005790 8.62 CALR CANX

Biological processes related to Myeloperoxidase Deficiency according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 protein folding GO:0006457 9.46 CALR CANX
2 response to oxidative stress GO:0006979 9.43 CAT MPO
3 response to estradiol GO:0032355 9.4 CALR CAT
4 cellular oxidant detoxification GO:0098869 9.37 CAT MPO
5 chaperone-mediated protein folding GO:0061077 9.32 CALR CANX
6 antigen processing and presentation of peptide antigen via MHC class I GO:0002474 9.26 CALR CANX
7 hydrogen peroxide catabolic process GO:0042744 9.16 CAT MPO
8 protein folding in endoplasmic reticulum GO:0034975 8.96 CALR CANX
9 aging GO:0007568 8.8 CANX CAT MPO

Molecular functions related to Myeloperoxidase Deficiency according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 metal ion binding GO:0046872 9.62 CALR CANX CAT MPO
2 carbohydrate binding GO:0030246 9.26 CALR CANX
3 heme binding GO:0020037 9.16 CAT MPO
4 unfolded protein binding GO:0051082 8.96 CALR CANX
5 peroxidase activity GO:0004601 8.62 CAT MPO

Sources for Myeloperoxidase 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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