MPOD
MCID: MYL013
MIFTS: 46

Myeloperoxidase Deficiency (MPOD)

Categories: Blood diseases, Genetic diseases, Rare diseases

Aliases & Classifications for Myeloperoxidase Deficiency

MalaCards integrated aliases for Myeloperoxidase Deficiency:

Name: Myeloperoxidase Deficiency 56 74 52 58 73 36 29 13 6 39 71
Mpo Deficiency 56 74 52 58 73 54
Mpod 56 73

Characteristics:

Orphanet epidemiological data:

58
myeloperoxidase deficiency
Age of onset: All ages; Age of death: normal life expectancy;

OMIM:

56
Inheritance:
autosomal recessive

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


HPO:

31
myeloperoxidase deficiency:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 58  
Rare immunological diseases


External Ids:

OMIM 56 254600
KEGG 36 H02025
MeSH 43 D002177
ICD10 via Orphanet 33 E80.3
UMLS via Orphanet 72 C0398595
Orphanet 58 ORPHA2587
MedGen 41 C0398595
SNOMED-CT via HPO 68 191124002 258211005 34093004
UMLS 71 C0398595

Summaries for Myeloperoxidase Deficiency

KEGG : 36 Myeloperoxidase deficiency is the most common inherited disorder of neutrophils. Heterogeneous mutations in the gene encoding myeloperoxidase have been described.

MalaCards based summary : Myeloperoxidase Deficiency, also known as mpo deficiency, is related to chronic granulomatous disease and chronic myelomonocytic leukemia. An important gene associated with Myeloperoxidase Deficiency is MPO (Myeloperoxidase), and among its related pathways/superpathways are Phagosome and Protein processing in endoplasmic reticulum. The drugs Lutein and Carotenoids have been mentioned in the context of this disorder. Affiliated tissues include neutrophil, monocytes and testes, and related phenotypes are abnormality of metabolism/homeostasis and abnormality of the immune system

UniProtKB/Swiss-Prot : 73 Myeloperoxidase deficiency: A disorder characterized by decreased myeloperoxidase activity in neutrophils and monocytes that results in disseminated candidiasis.

Wikipedia : 74 Myeloperoxidase deficiency is an autosomal recessive genetic disorder featuring deficiency, either in... more...

More information from OMIM: 254600

Related Diseases for Myeloperoxidase Deficiency

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

(show top 50) (show all 77)
# Related Disease Score Top Affiliating Genes
1 chronic granulomatous disease 29.9 MPO CAT
2 chronic myelomonocytic leukemia 29.1 MPO CALR
3 essential thrombocythemia 28.8 MPO CALR
4 acute promyelocytic leukemia 28.8 MPO CAT CALR
5 candidiasis, familial, 1 11.3
6 macular degeneration, age-related, 1 10.4
7 retinal disease 10.3
8 myeloid leukemia 10.2
9 myelodysplastic syndrome 10.1
10 candidiasis 10.1
11 neutropenia 10.0
12 leukemia 10.0
13 myelofibrosis 10.0
14 marginal corneal ulcer 10.0 MPO CAT
15 asbestosis 9.9 MPO CAT
16 brucellosis 9.9 MPO CAT
17 bacterial infectious disease 9.9
18 acute leukemia 9.9
19 pustulosis of palm and sole 9.9
20 psoriasis 9.9
21 meningitis 9.9
22 pustular psoriasis 9.9
23 adult respiratory distress syndrome 9.9 MPO CAT
24 bronchitis 9.9 MPO CAT
25 oral cavity cancer 9.8 MPO CAT
26 granulomatosis with polyangiitis 9.8 MPO CALR
27 alzheimer disease 9.7
28 atherosclerosis susceptibility 9.7
29 cyclic neutropenia 9.7
30 polykaryocytosis inducer 9.7
31 raynaud disease 9.7
32 rheumatoid arthritis 9.7
33 digeorge syndrome 9.7
34 torticollis 9.7
35 cystic fibrosis 9.7
36 polycythemia vera 9.7
37 anemia, x-linked, with or without neutropenia and/or platelet abnormalities 9.7
38 leukemia, acute myeloid 9.7
39 aplastic anemia 9.7
40 psoriasis 14, pustular 9.7
41 pulmonary fibrosis and/or bone marrow failure, telomere-related, 2 9.7
42 deficiency anemia 9.7
43 osteomyelitis 9.7
44 pre-eclampsia 9.7
45 disseminated intravascular coagulation 9.7
46 esophagitis 9.7
47 aseptic meningitis 9.7
48 pancytopenia 9.7
49 paracoccidioidomycosis 9.7
50 megaloblastic anemia 9.7

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



Diseases related to Myeloperoxidase Deficiency

Symptoms & Phenotypes for Myeloperoxidase Deficiency

Human phenotypes related to Myeloperoxidase Deficiency:

31
# Description HPO Frequency HPO Source Accession
1 abnormality of metabolism/homeostasis 31 HP:0001939
2 abnormality of the immune system 31 HP:0002715
3 abnormality of blood and blood-forming tissues 31 HP:0001871

Symptoms via clinical synopsis from OMIM:

56
Hematology:
decreased myeloperoxidase activity in neutrophils and monocytes

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

Immunology:
disseminated candidiasis

Clinical features from OMIM:

254600

Drugs & Therapeutics for Myeloperoxidase Deficiency

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

(show all 13)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Lutein Approved, Investigational, Nutraceutical Phase 1, Phase 2 127-40-2 6433159
2 Carotenoids Phase 1, Phase 2
3 Antioxidants Phase 1, Phase 2
4 Protective Agents Phase 1, Phase 2
5 Sunflower Phase 1, Phase 2
6
Epinephrine Approved, Vet_approved 51-43-4 5816
7
Racepinephrine Approved 329-65-7 838
8 Complement Factor H
9 Complement System Proteins
10 Omega 3 Fatty Acid
11 Epinephryl borate
12 Lycium
13 Goji

Interventional clinical trials:

(show all 22)
# Name Status NCT ID Phase Drugs
1 Effects of Lutein and Zeaxanthin Upon MPOD and Its Effects Upon Glare Disability, Photostress Recovery, and Contrast Enhancement in Healthy Subjects: A Randomized, Double-blind Placebo-controlled Study Unknown status NCT00909090 Phase 2, Phase 3 Placebo
2 Effects of Lutein and Zeaxanthin Supplementation on Age-related Macular Degeneration Unknown status NCT01048476 Phase 1, Phase 2 Lutein and zeaxanthin
3 Macular Pigment and Visual Performance in Glaucoma Patients Recruiting NCT03959592 Phase 1, Phase 2 Lutein, zeaxanthin and mesozeaxanthin
4 Pilot Study to Evaluate the Changes of Macular Pigment Optical Density in Patients With Idiopathic Macular Teleangiectasia Following Supplementation of Lutein and Zeaxanthin Unknown status NCT00568828
5 Collection of Whole Blood Specimens and Buccal Swabs From Subjects Diagnosed With CNV AMD, Dry AMD, and Age-Matched Controls to Assess the Association of Genetic Variants in Complement Factor H With Risk of Progression to CNV. Completed NCT01682382
6 Retrospective Study of the Health Benefits of Ultra-Violet Filtering Contact Lenses Completed NCT01444053
7 Randomized, Double Blind, Lutein Controlled Study of Zeaxanthin and Visual Function in Atrophic Age Related Macular Degeneration Patients Completed NCT00564902 3R 3'R Zeaxanthin
8 Long Term Effects of Lutein/Zeaxanthin and Omega-3- Supplementation on Optical Density of AMD Patients for Two More Years (LUTEGA 2) Completed NCT01648660
9 Changes of Macular Pigment Optical Density and Parameters After Nd: YAG Laser Posterior Capsulotomy in Cases With Posterior Capsule Opacification Completed NCT03321253
10 Effects of Lutein Supplementation on Macular Pigment Optical Density and Visual Acuity in Patients With Age-related Macular Degeneration Completed NCT00879671
11 The Effects of Lutein and Zeaxanthin Supplementations on Early Age-related Macular Degeneration Completed NCT01528605
12 A Randomized Placebo-controlled Trial to Investigate the Effect of Lutein and Zeaxanthin Supplementation on Macular Pigment and Visual Function in Albinism - LUtein for VIsion in Albinism (LUVIA) Completed NCT02200263
13 The Effect of Laser Pan-retinal Photocoagulation on Macular Pigment Optical Density in Cases With Diabetic Retinopathy Completed NCT03150654
14 Evaluation of Visual Function Impairments in Patients With Early Dry Age-related Macular Degeneration Completed NCT01822873
15 Progression of Dry Age-related Macular Degeneration (AMD): Association With Macular Pigment Optical Density (MPOD) Recruiting NCT03433885
16 Correlational and Intervention Effects of Egg Consumption on Macular Carotenoids, Cognition, and Achievement During Childhood Recruiting NCT03521349
17 Molecular Basis of Human Phagocyte Interactions With Bacterial Pathogens Recruiting NCT00339287
18 Studies of Disorders With Increased Susceptibility to Fungal Infections Recruiting NCT01222741
19 Regional Kale as Source of Lutein and Zeaxanthin to Improve Vision of Patients With Age-related Macular Degeneration - an Alternative to Supplements With Isolated Xanthophylls Recruiting NCT02136303
20 The Effect of Gojiberry Intake (Lycium Barbarium) on Macular Function Active, not recruiting NCT03983525
21 Atlas of Retinal Imaging in Alzheimer's Study Not yet recruiting NCT03862222
22 Macular Pigment Optical Density in Healthy Subjects Terminated NCT00993330

Search NIH Clinical Center for Myeloperoxidase Deficiency

Genetic Tests for Myeloperoxidase Deficiency

Genetic tests related to Myeloperoxidase Deficiency:

# Genetic test Affiliating Genes
1 Myeloperoxidase Deficiency 29 MPO

Anatomical Context for Myeloperoxidase Deficiency

MalaCards organs/tissues related to Myeloperoxidase Deficiency:

40
Neutrophil, Monocytes, Testes, Whole Blood, Lung, Myeloid, Skin

Publications for Myeloperoxidase Deficiency

Articles related to Myeloperoxidase Deficiency:

(show top 50) (show all 250)
# Title Authors PMID Year
1
Hereditary myeloperoxidase deficiency due to a missense mutation of arginine 569 to tryptophan. 61 54 6 56
7904599 1994
2
Impact of two novel mutations on the structure and function of human myeloperoxidase. 6 54 61
17650507 2007
3
Arginine to cysteine mutation (R499C) found in a Japanese patient with complete myeloperoxidase deficiency. 61 54 6
17017121 2006
4
Genetic characterization of myeloperoxidase deficiency in Italy. 6 61 54
15108282 2004
5
Novel missense mutation found in a Japanese patient with myeloperoxidase deficiency. 61 54 6
14980716 2004
6
A novel form of hereditary myeloperoxidase deficiency linked to endoplasmic reticulum/proteasome degradation. 6 61 54
9637725 1998
7
Pattern of inheritance in hereditary myeloperoxidase deficiency associated with the R569W missense mutation. 54 61 56
9468285 1998
8
Biochemical and molecular characterization of hereditary myeloperoxidase deficiency. 6 54 61
9354683 1997
9
Effect of the R569W missense mutation on the biosynthesis of myeloperoxidase. 54 6 61
8621627 1996
10
Myeloperoxidase (MPO) gene mutation in hereditary MPO deficiency. 6 61 54
8142659 1994
11
Aberrant restriction endonuclease digests of DNA from subjects with hereditary myeloperoxidase deficiency. 56 61
2462938 1989
12
Myeloperoxidase deficiency. 61 56
2831185 1988
13
Myeloperoxidase deficiency. Increased sensitivity for immunocytochemical compared to cytochemical detection of enzyme. 61 56
2996459 1985
14
Myeloperoxidase modulates the phagocytic activity of polymorphonuclear neutrophil leukocytes. Studies with cells from a myeloperoxidase-deficient patient. 56 61
6321554 1984
15
Biochemical and immunologic analysis of hereditary myeloperoxidase deficiency. 61 56
6189859 1983
16
Incidence of myeloperoxidase deficiency in an area of northern Italy: histochemical, biochemical and functional studies. 61 56
6280744 1982
17
Myeloperoxidase deficiency: prevalence and clinical significance. 61 56
6267975 1981
18
Hereditary myeloperoxidase deficiency. 56 61
6260268 1981
19
Leukocyte myeloperoxidase deficiency and diabetes mellitus associated with Candida albicans liver abscess. 61 56
217268 1979
20
Hydrogen peroxide utilization in myeloperoxidase-deficient leukocytes: a possible microbicidal control mechanism. 61 56
5116211 1971
21
Myeloperoxidase deficiency. Immunologic study of a genetic leukocyte defect. 56 61
4983030 1970
22
Leukocyte myeloperoxidase deficiency and disseminated candidiasis: the role of myeloperoxidase in resistance to Candida infection. 56 61
5796360 1969
23
Treatment of chronic mucocutaneous candidiasis with leucocytes from HL-A compatible sibling. 56
4109818 1972
24
Fungal infections in primary immunodeficiencies. 61 54
17551753 2007
25
Lethal candida sepsis associated with myeloperoxidase deficiency and pre-eclampsia. 61 54
17614858 2007
26
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. 54 61
17384005 2007
27
Disorders of neutrophil function: an overview. 54 61
18453130 2007
28
Diagnostic assays for myeloperoxidase deficiency. 54 61
18453132 2007
29
[Role of myeloperoxidase in the host defense against fungal infection]. 54 61
16940954 2006
30
Biosynthesis, processing, and sorting of human myeloperoxidase. 54 61
16183032 2006
31
Lessons from MPO deficiency about functionally important structural features. 54 61
15507769 2004
32
Genomic variations in myeloperoxidase gene in the Japanese population. 54 61
15507753 2004
33
Genetic studies on myeloperoxidase deficiency in Italy. 54 61
15507752 2004
34
Oxygen radical-induced natural killer cell dysfunction: role of myeloperoxidase and regulation by serotonin. 61 54
15039463 2004
35
Noma-like gangrenous cheilitis in a child with cyclic neutropenia associated with myeloperoxidase deficiency. 61 54
14651574 2003
36
Cavitating BOOP associated with myeloperoxidase deficiency in a floor cleaner with an incidental heavy exposure to benzalkonium compounds. 61 54
14646295 2003
37
Prevalence of inherited myeloperoxidase deficiency in Japan. 54 61
12953846 2003
38
Differences in the accumulation of ascorbic acid in normal, myeloperoxidase deficient and NADPH-oxidase deficient granulocytes. 61 54
12214562 2002
39
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. 61 54
11861298 2002
40
[Contribution of neutrophils to Aspergillus infection]. 61 54
12145629 2002
41
Growing significance of myeloperoxidase in non-infectious diseases. 54 61
11916266 2002
42
Characterization of the cellular immune function of patients with chronic mucocutaneous candidiasis. 54 61
11207655 2001
43
[Hereditary polymorphonuclear neutrophil deficiencies]. 61 54
11204838 2000
44
Disseminated fungal infection associated with myeloperoxidase deficiency in a premature neonate. 61 54
11055615 2000
45
Consequences of total and subtotal myeloperoxidase deficiency: risk or benefit ? 61 54
11111115 2000
46
[Myeloperoxidase deficiency]. 61 54
11212684 2000
47
Psoriasis and myeloperoxidase deficiency. 54 61
10971069 2000
48
Impact of missense mutations on biosynthesis of myeloperoxidase. 61 54
10994874 2000
49
Myeloperoxidase. 61 54
10519157 1999
50
Myeloperoxidase deficiency associated with atypical oral candidiasis: A clinical report. 61 54
10479248 1999

Variations for Myeloperoxidase Deficiency

ClinVar genetic disease variations for Myeloperoxidase Deficiency:

6 ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 MPO NM_000250.2(MPO):c.1705C>T (p.Arg569Trp)SNV Pathogenic 3626 rs119468010 17:56350196-56350196 17:58272835-58272835
2 MPO NM_000250.2(MPO):c.518A>G (p.Tyr173Cys)SNV Pathogenic 3627 rs78950939 17:56356914-56356914 17:58279553-58279553
3 MPO NM_000250.2(MPO):c.1715T>G (p.Leu572Trp)SNV Pathogenic 3631 rs119469012 17:56350186-56350186 17:58272825-58272825
4 MPO NM_000250.2(MPO):c.2031-2A>CSNV Pathogenic 3632 rs35897051 17:56348226-56348226 17:58270865-58270865
5 MPO NM_000250.2(MPO):c.1501G>A (p.Gly501Ser)SNV Pathogenic 3634 rs119469013 17:56350895-56350895 17:58273534-58273534
6 MPO NM_000250.2(MPO):c.1495C>T (p.Arg499Cys)SNV Pathogenic 3635 rs119469014 17:56350901-56350901 17:58273540-58273540
7 MPO NM_000250.2(MPO):c.1555_1568del (p.Met519fs)deletion Pathogenic/Likely pathogenic 3629 rs536522394 17:56350828-56350841 17:58273467-58273480
8 MPO NM_000250.2(MPO):c.995C>T (p.Ala332Val)SNV Uncertain significance 3630 rs28730837 17:56355397-56355397 17:58278036-58278036
9 MPO NM_000250.2(MPO):c.752T>C (p.Met251Thr)SNV Uncertain significance 3628 rs56378716 17:56356502-56356502 17:58279141-58279141

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

73
# 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

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 KEGG:

36
# Name Kegg Source Accession
1 Phagosome hsa04145

GO Terms for Myeloperoxidase Deficiency

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

# Name GO ID Score Top Affiliating Genes
1 extracellular exosome GO:0070062 9.62 MPO CAT CANX CALR
2 intracellular membrane-bounded organelle GO:0043231 9.54 MPO CAT CALR
3 protein-containing complex GO:0032991 9.43 CAT CANX CALR
4 integral component of lumenal side of endoplasmic reticulum membrane GO:0071556 9.16 CANX CALR
5 smooth endoplasmic reticulum GO:0005790 8.96 CANX CALR
6 endoplasmic reticulum quality control compartment GO:0044322 8.62 CANX CALR

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

# Name GO ID Score Top Affiliating Genes
1 protein folding GO:0006457 9.46 CANX CALR
2 response to oxidative stress GO:0006979 9.43 MPO CAT
3 response to estradiol GO:0032355 9.4 CAT CALR
4 cellular oxidant detoxification GO:0098869 9.37 MPO CAT
5 endoplasmic reticulum unfolded protein response GO:0030968 9.32 CANX CALR
6 hydrogen peroxide catabolic process GO:0042744 9.26 MPO CAT
7 antigen processing and presentation of peptide antigen via MHC class I GO:0002474 9.16 CANX CALR
8 aging GO:0007568 9.13 MPO CAT CANX
9 protein folding in endoplasmic reticulum GO:0034975 8.62 CANX CALR

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

# Name GO ID Score Top Affiliating Genes
1 heme binding GO:0020037 9.16 MPO CAT
2 unfolded protein binding GO:0051082 8.96 CANX CALR
3 peroxidase activity GO:0004601 8.62 MPO CAT

Sources for Myeloperoxidase 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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