MPOD
MCID: MYL013
MIFTS: 44

Myeloperoxidase Deficiency (MPOD)

Categories: Blood diseases, Genetic diseases, Rare diseases

Aliases & Classifications for Myeloperoxidase Deficiency

MalaCards integrated aliases for Myeloperoxidase Deficiency:

Name: Myeloperoxidase Deficiency 57 73 20 58 72 36 29 13 6 39 70
Mpo Deficiency 57 73 20 58 72 54
Mpod 57 72

Characteristics:

Orphanet epidemiological data:

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

OMIM®:

57 (Updated 05-Apr-2021)
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® 57 254600
KEGG 36 H02025
MeSH 44 D002177
ICD10 via Orphanet 33 E80.3
UMLS via Orphanet 71 C0398595
Orphanet 58 ORPHA2587
MedGen 41 C0398595
SNOMED-CT via HPO 68 191124002 258211005 34093004
UMLS 70 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 candidiasis, familial, 1 and candidiasis. An important gene associated with Myeloperoxidase Deficiency is MPO (Myeloperoxidase), and among its related pathways/superpathways are Phagosome and Calnexin/calreticulin cycle. The drug Lutein has been mentioned in the context of this disorder. Affiliated tissues include neutrophil, monocytes and myeloid, and related phenotypes are abnormality of the immune system and abnormality of metabolism/homeostasis

UniProtKB/Swiss-Prot : 72 Myeloperoxidase deficiency: A disorder characterized by decreased myeloperoxidase activity in neutrophils and monocytes that results in disseminated candidiasis.

Wikipedia : 73 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 63)
# Related Disease Score Top Affiliating Genes
1 candidiasis, familial, 1 11.1
2 candidiasis 10.1
3 macular degeneration, age-related, 1 10.1
4 chronic granulomatous disease 10.1
5 retinal disease 10.0
6 myelofibrosis 9.9
7 myelodysplastic syndrome 9.9
8 bacterial infectious disease 9.9
9 neutropenia 9.9
10 leukemia 9.9
11 acute leukemia 9.9
12 pustulosis of palm and sole 9.9
13 psoriasis 9.9
14 asbestosis 9.9 MPO CAT
15 hereditary angioedema with normal c1inh 9.9 MPO LOC106694315
16 acne 9.9 MPO CAT
17 granulomatosis with polyangiitis 9.9 MPO CALR
18 blood platelet disease 9.8 MPO CALR
19 glossopharyngeal nerve disease 9.8 MPO CANX
20 alzheimer disease 9.8
21 cyclic neutropenia 9.8
22 polykaryocytosis inducer 9.8
23 raynaud disease 9.8
24 digeorge syndrome 9.8
25 torticollis 9.8
26 polycythemia vera 9.8
27 mycobacterium tuberculosis 1 9.8
28 aplastic anemia 9.8
29 pulmonary fibrosis and/or bone marrow failure, telomere-related, 2 9.8
30 chronic myelomonocytic leukemia 9.8
31 osteomyelitis 9.8
32 pre-eclampsia 9.8
33 disseminated intravascular coagulation 9.8
34 esophagitis 9.8
35 aseptic meningitis 9.8
36 paracoccidioidomycosis 9.8
37 eclampsia 9.8
38 oral candidiasis 9.8
39 cystitis 9.8
40 cheilitis 9.8
41 essential thrombocythemia 9.8
42 myeloproliferative neoplasm 9.8
43 iron metabolism disease 9.8
44 dermatitis 9.8
45 acute pancreatitis 9.8
46 acute kidney failure 9.8
47 cellulitis 9.8
48 protein c deficiency 9.8
49 kidney disease 9.8
50 conjunctivitis 9.8

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 the immune system 31 HP:0002715
2 abnormality of metabolism/homeostasis 31 HP:0001939
3 abnormality of blood and blood-forming tissues 31 HP:0001871

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
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 (Updated 05-Apr-2021)

Drugs & Therapeutics for Myeloperoxidase Deficiency

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


# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Lutein Approved, Investigational, Nutraceutical 127-40-2 5281243

Interventional clinical trials:


# 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 Completed NCT00909090
2 Atlas of Retinal Imaging in Alzheimer's Study Recruiting NCT03862222
3 Progression of Dry Age-related Macular Degeneration (AMD): Association With Macular Pigment Optical Density (MPOD) Recruiting NCT03433885

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, Myeloid, Lung, Skin, Whole Blood, Bone

Publications for Myeloperoxidase Deficiency

Articles related to Myeloperoxidase Deficiency:

(show top 50) (show all 254)
# Title Authors PMID Year
1
Arginine to cysteine mutation (R499C) found in a Japanese patient with complete myeloperoxidase deficiency. 61 6 57 54
17017121 2006
2
Genetic characterization of myeloperoxidase deficiency in Italy. 6 57 54 61
15108282 2004
3
Novel missense mutation found in a Japanese patient with myeloperoxidase deficiency. 54 61 6 57
14980716 2004
4
A novel form of hereditary myeloperoxidase deficiency linked to endoplasmic reticulum/proteasome degradation. 61 54 57 6
9637725 1998
5
Biochemical and molecular characterization of hereditary myeloperoxidase deficiency. 54 61 6 57
9354683 1997
6
Hereditary myeloperoxidase deficiency due to a missense mutation of arginine 569 to tryptophan. 54 61 6 57
7904599 1994
7
Hereditary myeloperoxidase deficiency. 57 6 61
6260268 1981
8
Impact of two novel mutations on the structure and function of human myeloperoxidase. 54 6 61
17650507 2007
9
Clinical manifestation of myeloperoxidase deficiency. 54 6 61
9766845 1998
10
Pattern of inheritance in hereditary myeloperoxidase deficiency associated with the R569W missense mutation. 61 54 57
9468285 1998
11
Effect of the R569W missense mutation on the biosynthesis of myeloperoxidase. 54 61 6
8621627 1996
12
Myeloperoxidase (MPO) gene mutation in hereditary MPO deficiency. 54 6 61
8142659 1994
13
Aberrant restriction endonuclease digests of DNA from subjects with hereditary myeloperoxidase deficiency. 61 57
2462938 1989
14
Myeloperoxidase deficiency. 61 57
2831185 1988
15
Myeloperoxidase deficiency. Increased sensitivity for immunocytochemical compared to cytochemical detection of enzyme. 61 57
2996459 1985
16
Myeloperoxidase modulates the phagocytic activity of polymorphonuclear neutrophil leukocytes. Studies with cells from a myeloperoxidase-deficient patient. 57 61
6321554 1984
17
Biochemical and immunologic analysis of hereditary myeloperoxidase deficiency. 61 57
6189859 1983
18
Incidence of myeloperoxidase deficiency in an area of northern Italy: histochemical, biochemical and functional studies. 57 61
6280744 1982
19
Myeloperoxidase deficiency: prevalence and clinical significance. 57 61
6267975 1981
20
Leukocyte myeloperoxidase deficiency and diabetes mellitus associated with Candida albicans liver abscess. 57 61
217268 1979
21
Hydrogen peroxide utilization in myeloperoxidase-deficient leukocytes: a possible microbicidal control mechanism. 61 57
5116211 1971
22
Myeloperoxidase deficiency. Immunologic study of a genetic leukocyte defect. 57 61
4983030 1970
23
Leukocyte myeloperoxidase deficiency and disseminated candidiasis: the role of myeloperoxidase in resistance to Candida infection. 57 61
5796360 1969
24
Treatment of chronic mucocutaneous candidiasis with leucocytes from HL-A compatible sibling. 57
4109818 1972
25
Fungal infections in primary immunodeficiencies. 54 61
17551753 2007
26
Lethal candida sepsis associated with myeloperoxidase deficiency and pre-eclampsia. 54 61
17614858 2007
27
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
28
Disorders of neutrophil function: an overview. 61 54
18453130 2007
29
Diagnostic assays for myeloperoxidase deficiency. 61 54
18453132 2007
30
Biosynthesis, processing, and sorting of human myeloperoxidase. 61 54
16183032 2006
31
[Role of myeloperoxidase in the host defense against fungal infection]. 61 54
16940954 2006
32
Lessons from MPO deficiency about functionally important structural features. 54 61
15507769 2004
33
Genomic variations in myeloperoxidase gene in the Japanese population. 61 54
15507753 2004
34
Genetic studies on myeloperoxidase deficiency in Italy. 61 54
15507752 2004
35
Oxygen radical-induced natural killer cell dysfunction: role of myeloperoxidase and regulation by serotonin. 54 61
15039463 2004
36
Noma-like gangrenous cheilitis in a child with cyclic neutropenia associated with myeloperoxidase deficiency. 61 54
14651574 2003
37
Cavitating BOOP associated with myeloperoxidase deficiency in a floor cleaner with an incidental heavy exposure to benzalkonium compounds. 61 54
14646295 2003
38
Prevalence of inherited myeloperoxidase deficiency in Japan. 54 61
12953846 2003
39
Differences in the accumulation of ascorbic acid in normal, myeloperoxidase deficient and NADPH-oxidase deficient granulocytes. 61 54
12214562 2002
40
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
41
Growing significance of myeloperoxidase in non-infectious diseases. 61 54
11916266 2002
42
[Contribution of neutrophils to Aspergillus infection]. 54 61
12145629 2002
43
Characterization of the cellular immune function of patients with chronic mucocutaneous candidiasis. 54 61
11207655 2001
44
[Hereditary polymorphonuclear neutrophil deficiencies]. 54 61
11204838 2000
45
Disseminated fungal infection associated with myeloperoxidase deficiency in a premature neonate. 54 61
11055615 2000
46
Psoriasis and myeloperoxidase deficiency. 61 54
10971069 2000
47
[Myeloperoxidase deficiency]. 54 61
11212684 2000
48
Consequences of total and subtotal myeloperoxidase deficiency: risk or benefit ? 61 54
11111115 2000
49
Impact of missense mutations on biosynthesis of myeloperoxidase. 61 54
10994874 2000
50
Myeloperoxidase. 61 54
10519157 1999

Variations for Myeloperoxidase Deficiency

ClinVar genetic disease variations for Myeloperoxidase Deficiency:

6 (show all 13)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 MPO NM_000250.2(MPO):c.518A>G (p.Tyr173Cys) SNV Pathogenic 3627 rs78950939 GRCh37: 17:56356914-56356914
GRCh38: 17:58279553-58279553
2 LOC106694316 , MPO NM_000250.2(MPO):c.1715T>G (p.Leu572Trp) SNV Pathogenic 3631 rs119469012 GRCh37: 17:56350186-56350186
GRCh38: 17:58272825-58272825
3 LOC106694316 , MPO NM_000250.2(MPO):c.1501G>A (p.Gly501Ser) SNV Pathogenic 3634 rs119469013 GRCh37: 17:56350895-56350895
GRCh38: 17:58273534-58273534
4 LOC106694316 , MPO NM_000250.2(MPO):c.1495C>T (p.Arg499Cys) SNV Pathogenic 3635 rs119469014 GRCh37: 17:56350901-56350901
GRCh38: 17:58273540-58273540
5 LOC106694316 , MPO NM_000250.2(MPO):c.1555_1568del (p.Met519fs) Deletion Pathogenic 3629 rs536522394 GRCh37: 17:56350828-56350841
GRCh38: 17:58273467-58273480
6 LOC106694316 , MPO NM_000250.2(MPO):c.1783G>A (p.Gly595Ser) SNV Pathogenic 995959 rs774984207 GRCh37: 17:56350118-56350118
GRCh38: 17:58272757-58272757
7 LOC106694315 , MPO NM_000250.2(MPO):c.249-2A>G SNV Pathogenic 997485 GRCh37: 17:56357377-56357377
GRCh38: 17:58280016-58280016
8 LOC106694316 , MPO NM_000250.2(MPO):c.1705C>T (p.Arg569Trp) SNV Pathogenic 3626 rs119468010 GRCh37: 17:56350196-56350196
GRCh38: 17:58272835-58272835
9 MPO NM_000250.2(MPO):c.604G>T (p.Glu202Ter) SNV Pathogenic 489145 rs778013714 GRCh37: 17:56356732-56356732
GRCh38: 17:58279371-58279371
10 MPO NM_000250.2(MPO):c.886-2A>G SNV Pathogenic 1031476 GRCh37: 17:56355508-56355508
GRCh38: 17:58278147-58278147
11 MPO NM_000250.2(MPO):c.2031-2A>C SNV Pathogenic/Likely pathogenic 3632 rs35897051 GRCh37: 17:56348226-56348226
GRCh38: 17:58270865-58270865
12 MPO NM_000250.2(MPO):c.995C>T (p.Ala332Val) SNV Conflicting interpretations of pathogenicity 3630 rs28730837 GRCh37: 17:56355397-56355397
GRCh38: 17:58278036-58278036
13 MPO NM_000250.2(MPO):c.752T>C (p.Met251Thr) SNV Uncertain significance 3628 rs56378716 GRCh37: 17:56356502-56356502
GRCh38: 17:58279141-58279141

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

72
# 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

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

# Super pathways Score Top Affiliating Genes
1 11.31 MPO CANX CALR
2
Show member pathways
11.19 CANX CALR
3 10.55 CANX CALR
4
Show member pathways
9.23 CANX CALR

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 protein-containing complex GO:0032991 9.43 CAT CANX CALR
2 integral component of lumenal side of endoplasmic reticulum membrane GO:0071556 9.16 CANX CALR
3 endoplasmic reticulum quality control compartment GO:0044322 8.96 CANX CALR
4 smooth endoplasmic reticulum GO:0005790 8.62 CANX CALR

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

# Name GO ID Score Top Affiliating Genes
1 response to oxidative stress GO:0006979 9.43 MPO CAT
2 response to estradiol GO:0032355 9.4 CAT CALR
3 cellular oxidant detoxification GO:0098869 9.37 MPO CAT
4 endoplasmic reticulum unfolded protein response GO:0030968 9.32 CANX CALR
5 antigen processing and presentation of peptide antigen via MHC class I GO:0002474 9.26 CANX CALR
6 hydrogen peroxide catabolic process GO:0042744 9.16 MPO CAT
7 aging GO:0007568 9.13 MPO CAT CANX
8 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
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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