MCID: MYL013
MIFTS: 34

Myeloperoxidase Deficiency malady

Blood category

Summaries for Myeloperoxidase Deficiency

Sources:
64Wikipedia, 47OMIM, 33MalaCards
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Wikipedia:64 Myeloperoxidase deficiency is a common genetic disorder featuring deficiency, either in quantity or of... more...

MalaCards: Myeloperoxidase Deficiency, also known as mpo deficiency, is related to chronic granulomatous disease and sepsis. An important gene associated with Myeloperoxidase Deficiency is MPO (myeloperoxidase), and among its related pathways is Selenium Pathway. The compounds methimazole and dextran sulfate have been mentioned in the context of this disorder. Affiliated tissues include liver, lung and myeloid.

Description from OMIM:47 254600

Aliases & Classifications for Myeloperoxidase Deficiency

Sources:
43NIH Rare Diseases, 22GTR, 47OMIM, 45Novoseek, 49Orphanet, 61UMLS, 26ICD10 via Orphanet, 58SNOMED-CT via Orphanet, 62UMLS via Orphanet
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Anatomical: Blood


Aliases & Descriptions:

myeloperoxidase deficiency 43 22 47 49
mpo deficiency 43 45 49
myeloperoxidase deficiency syndrome 61


External Ids:

OMIM47 254600
ICD10 via Orphanet26 E80.3
SNOMED-CT via Orphanet58 129644003, 234433009
UMLS via Orphanet62 C0398595

Related Diseases for Myeloperoxidase Deficiency

Sources:
17GeneCards, 18GeneDecks
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Graphical network of the top 20 diseases related to Myeloperoxidase Deficiency:



Diseases related to myeloperoxidase deficiency

Clinical Features for Myeloperoxidase Deficiency

Sources:
47OMIM
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Clinical features from OMIM:

254600

Clinical synopsis from OMIM:

254600

Drugs & Therapeutics for Myeloperoxidase Deficiency

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials, 61UMLS, 41NDF-RT
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Approved drugs:

Search CenterWatch for Myeloperoxidase Deficiency

Drug clinical trials:

Search ClinicalTrials for Myeloperoxidase Deficiency

Search NIH Clinical Center for Myeloperoxidase Deficiency

Search CenterWatch for Myeloperoxidase Deficiency

Genetic Tests for Myeloperoxidase Deficiency

Sources:
22GTR
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Genetic tests related to Myeloperoxidase Deficiency:

id Genetic test Affiliating Genes
1 Myeloperoxidase Deficiency22

Anatomical Context for Myeloperoxidase Deficiency

Sources:
33MalaCards
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MalaCards organs/tissues related to Myeloperoxidase Deficiency:

33
Liver, Lung, Myeloid, Monocytes

Animal Models for Myeloperoxidase Deficiency or affiliated genes

Sources:
28inGenious Targeting Laboratory
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Publications for Myeloperoxidase Deficiency

Sources:
51PubMed
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Articles related to Myeloperoxidase Deficiency:

(show top 50)    (show all 97)
idTitleAuthorsYear
1
Myeloperoxidase deficiency: the secret under the flag of unstained cell. (24385801)
2013
2
Association of primary myeloperoxidase deficiency and myeloproliferative neoplasm. (21088365)
2010
3
Myeloperoxidase deficiency attenuates lipopolysaccharide-induced acute lung inflammation and subsequent cytokine and chemokine production. (19494324)
2009
4
Myeloperoxidase interaction with peroxynitrite: chloride deficiency and heme depletion. (19464362)
2009
5
Lethal candida sepsis associated with myeloperoxidase deficiency and pre-eclampsia. (17614858)
2007
6
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
7
Diagnostic assays for myeloperoxidase deficiency. (18453132)
2007
8
Arginine to cysteine mutation (R499C) found in a Japanese patient with complete myeloperoxidase deficiency. (17017121)
2006
9
Genetic characterization of myeloperoxidase deficiency in Italy. (15108282)
2004
10
Novel missense mutation found in a Japanese patient with myeloperoxidase deficiency. (14980716)
2004
11
Genetic studies on myeloperoxidase deficiency in Italy. (15507752)
2004
12
Prevalence of inherited myeloperoxidase deficiency in Japan. (12953846)
2003
13
Cavitating BOOP associated with myeloperoxidase deficiency in a floor cleaner with an incidental heavy exposure to benzalkonium compounds. (14646295)
2003
14
Myeloperoxidase deficiency]. (11212684)
2000
15
Quality control in the endoplasmic reticulum: lessons from hereditary myeloperoxidase deficiency. (10482305)
1999
16
Pattern of inheritance in hereditary myeloperoxidase deficiency associated with the R569W missense mutation. (9468285)
1998
17
Insights into myeloperoxidase biosynthesis from its inherited deficiency. (9766843)
1998
18
Myeloperoxidase deficiency]. (9833429)
1998
19
Prevalence of myeloperoxidase deficiency: population studies using Bayer-Technicon automated hematology. (9766844)
1998
20
A novel form of hereditary myeloperoxidase deficiency linked to endoplasmic reticulum/proteasome degradation. (9637725)
1998
21
Idiopathic myelofibrosis with neutrophil myeloperoxidase deficiency: a case report. (9299865)
1997
22
Pustular psoriasis in a patient with myeloperoxidase deficiency. (8944359)
1996
23
A case of total peripheral aneosinophilia associated with complete deficiency of myeloperoxidase. (8858895)
1996
24
Myeloperoxidase deficiency and severe sepsis. (8391723)
1993
25
Candida albicans meningitis in a child with myeloperoxidase deficiency. (8381226)
1993
26
Selective involvement of monocytes by acquired myeloperoxidase deficiency in a case of chronic myelomonocytic leukemia. (8389605)
1993
27
Hereditary myeloperoxidase deficiency: its diagnosis on the Technicon H.1 hematological analyzer]. (8020722)
1993
28
Myeloperoxidase deficiency as a predisposing factor for deep mucocutaneous candidiasis: a case report. (1846651)
1991
29
Cytochemically unreactive neutrophils from subjects with myeloperoxidase (MPO) deficiency show a complex pattern of immunoreactivity with anti-MPO monoclonal antibodies: a flow cytometric and immunocytochemical study. (1655065)
1991
30
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
31
Cytofluorometric study of myeloperoxidase (MPO) expression in neutrophilic granulocytes of subjects with primary or secondary MPO deficiency: analysis of the histographic antigen distribution using the Kolmogorov-Smirnov mathematical model]. (1653580)
1991
32
Neutrophilic dermatosis despite myeloperoxidase deficiency. (1851769)
1991
33
Neuromediated myeloperoxidase deficiency. (2162623)
1990
34
Myeloperoxidase deficiency. (1963623)
1990
35
Evidence for a pretranslational defect in hereditary and acquired myeloperoxidase deficiency. (2540860)
1989
36
Neutrophil myeloperoxidase deficiency associated with canine hepatozoonosis. (2561399)
1989
37
Acquired myeloperoxidase deficiency of neutrophils in a patient with aplastic anemia (idiopathic marrow aplasia). (2844051)
1988
38
Myeloperoxidase deficiency. (2831185)
1988
39
Early recognition of hereditary myeloperoxidase deficiency by flow-through differential cell counters. (2836956)
1988
40
Response of a case of myelodysplastic syndrome with partial myeloperoxidase deficiency to continuous infusion of low-dose cytosine arabinoside. (2831627)
1987
41
Myeloperoxidase biosynthesis by a human promyelocytic leukemia cell line: insight into myeloperoxidase deficiency. (3006833)
1986
42
Myeloperoxidase deficiency. Increased sensitivity for immunocytochemical compared to cytochemical detection of enzyme. (2996459)
1985
43
Hereditary myeloperoxidase deficiency: a rare condition? Diagnostic possibilities of a differential white cell autoanalyzer (Hemalog-D). (6321302)
1983
44
Incidence of myeloperoxidase deficiency in an area of northern Italy: histochemical, biochemical and functional studies. (6280744)
1982
45
Characterization of hereditary partial myeloperoxidase deficiency. (6278039)
1982
46
Impaired neutrophil function and myeloperoxidase deficiency in pregnancy. (6246914)
1980
47
Induction of myeloperoxidase deficiency in granulocytes in lead-intoxicated dogs. (218596)
1979
48
Partial myeloperoxidase deficiency in a case of preleukaemia. I. Studies of fine structure and peroxidase synthesis of promyelocytes. (172111)
1975
49
Myeloperoxidase deficiency. Immunologic study of a genetic leukocyte defect. (4983030)
1970
50
Leukocyte myeloperoxidase deficiency and disseminated candidiasis: the role of myeloperoxidase in resistance to Candida infection. (5796360)
1969

Genetic Variations for Myeloperoxidase Deficiency

Sources:
63UniProtKB/Swiss-Prot
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Genetic disease variations for Myeloperoxidase Deficiency:

63
id Symbol AA change Variation SNP ID
1MPOp.Tyr173CysVAR_015377rs78950939
2MPOp.Met251ThrVAR_015378rs56378716
3MPOp.Arg569TrpVAR_015379

Expression for genes affiliated with Myeloperoxidase Deficiency

Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Myeloperoxidase Deficiency

Search GEO for disease gene expression data for Myeloperoxidase Deficiency.

Pathways for genes affiliated with Myeloperoxidase Deficiency

Sources:
38NCBI BioSystems Database
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Pathways related to Myeloperoxidase Deficiency according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.1LDLR, MPO

Compounds for genes affiliated with Myeloperoxidase Deficiency

Sources:
45Novoseek, 2BitterDB, 11DrugBank, 29IUPHAR, 50PharmGKB, 24HMDB, 60Tocris Bioscience
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Compounds related to Myeloperoxidase Deficiency according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1methimazole45 2 1111.4LDLR, MPO
2dextran sulfate459.3LDLR, MPO
3propranolol45 29 50 11 2413.3MPO, LDLR
4chloramphenicol45 2 1111.3LDLR, MPO
5ascorbic acid45 2410.2LDLR, MPO
6indomethacin45 60 29 1112.2MPO, LDLR
7acetylcholine45 50 29 11 2413.1LDLR, MPO
8h2o2459.1LDLR, MPO
9pge2459.0LDLR, MPO
10heparin45 29 11 2411.8LDLR, MPO

GO Terms for genes affiliated with Myeloperoxidase Deficiency

Sources:
16Gene Ontology
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Cellular components related to Myeloperoxidase Deficiency according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1lysosomeGO:0057649.1LDLR, MPO

Products for genes affiliated with Myeloperoxidase Deficiency

  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Myeloperoxidase Deficiency

3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet