MCID: MYL013
MIFTS: 30

Myeloperoxidase Deficiency malady

Genetic diseases, Rare diseases, Blood diseases categories

Summaries for Myeloperoxidase Deficiency

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Wikipedia:63 Myeloperoxidase deficiency is a common genetic disorder featuring deficiency, either in quantity or of... more...

MalaCards based summary: Myeloperoxidase Deficiency, also known as mpo deficiency, is related to leukemia and candidiasis, and has symptoms including autosomal recessive inheritance, abnormality of blood and blood-forming tissues and abnormality of metabolism/homeostasis. An important gene associated with Myeloperoxidase Deficiency is MPO (myeloperoxidase). Affiliated tissues include neutrophil, lung and testes.

Description from OMIM:45 254600

Aliases & Classifications for Myeloperoxidase Deficiency

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Sources:
45OMIM, 10diseasecard, 41NIH Rare Diseases, 47Orphanet, 22GTR, 60UMLS, 43Novoseek, 26ICD10 via Orphanet, 61UMLS via Orphanet
See all sources

Myeloperoxidase Deficiency, Aliases & Descriptions:

Name: Myeloperoxidase Deficiency 45 10 41 47 22 60
 
Mpo Deficiency 41 43 47


Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases, Rare diseases
Anatomical: Blood diseases


External Ids:

OMIM45 254600
Orphanet47 2587
ICD10 via Orphanet26 E80.3
UMLS via Orphanet61 C0398595

Related Diseases for Myeloperoxidase Deficiency

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

(show all 24)
idRelated DiseaseScoreTop Affiliating Genes
1leukemia10.3
2candidiasis10.3
3chronic granulomatous disease10.2
4psoriasis10.2
5rheumatoid arthritis10.0
6myelodysplastic syndrome10.0
7aplastic anemia10.0
8arthritis10.0
9atherosclerosis10.0
10chronic myelomonocytic leukemia10.0
11myelofibrosis10.0
12neutropenia10.0
13noma10.0
14eclampsia10.0
15oral candidiasis10.0
16megaloblastic anemia10.0
17cheilitis10.0
18dermatitis10.0
19kidney disease10.0
20meningitis10.0
21osteomyelitis10.0
22pre-eclampsia10.0
23acute myelomonocytic leukemia10.0
24endotheliitis10.0

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



Diseases related to myeloperoxidase deficiency

Symptoms for Myeloperoxidase Deficiency

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Symptoms by clinical synopsis from OMIM:

254600

Clinical features from OMIM:

254600

HPO human phenotypes related to Myeloperoxidase Deficiency:

id Description Frequency HPO Source Accession
1 autosomal recessive inheritance HP:0000007
2 abnormality of blood and blood-forming tissues HP:0001871
3 abnormality of metabolism/homeostasis HP:0001939
4 abnormality of the immune system HP:0002715

Drugs & Therapeutics for Myeloperoxidase Deficiency

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Drug clinical trials:

Search ClinicalTrials for Myeloperoxidase Deficiency

Search NIH Clinical Center for Myeloperoxidase Deficiency

Genetic Tests for Myeloperoxidase Deficiency

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Genetic tests related to Myeloperoxidase Deficiency:

id Genetic test Affiliating Genes
1 Myeloperoxidase Deficiency22

Anatomical Context for Myeloperoxidase Deficiency

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MalaCards organs/tissues related to Myeloperoxidase Deficiency:

31
Neutrophil, Lung, Testes, Monocytes, Kidney, Liver, Skin, Myeloid, Endothelial

Animal Models for Myeloperoxidase Deficiency or affiliated genes

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Publications for Myeloperoxidase Deficiency

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Articles related to Myeloperoxidase Deficiency:

(show top 50)    (show all 100)
idTitleAuthorsYear
1
Diagnostic assays for myeloperoxidase and myeloperoxidase deficiency. (24504973)
2014
2
Myeloperoxidase deficiency attenuates nitrogen mustard-induced skin injuries. (24631667)
2014
3
Endothelial function in a mouse model of myeloperoxidase deficiency. (24707472)
2014
4
Myeloperoxidase deficiency ameliorates progression of chronic kidney disease in mice. (24990898)
2014
5
Myeloperoxidase deficiency in dogs observed with the ADVIAAr120. A retrospective study. (22290548)
2010
6
Association of primary myeloperoxidase deficiency and myeloproliferative neoplasm. (21088365)
2010
7
Myeloperoxidase deficiency attenuates lipopolysaccharide-induced acute lung inflammation and subsequent cytokine and chemokine production. (19494324)
2009
8
Lethal candida sepsis associated with myeloperoxidase deficiency and pre-eclampsia. (17614858)
2007
9
Arginine to cysteine mutation (R499C) found in a Japanese patient with complete myeloperoxidase deficiency. (17017121)
2006
10
Genetic characterization of myeloperoxidase deficiency in Italy. (15108282)
2004
11
Myeloperoxidase deficiency enhances inflammation after allogeneic marrow transplantation. (15020295)
2004
12
Increased atherosclerosis in myeloperoxidase-deficient mice. (11181641)
2001
13
Disseminated fungal infection associated with myeloperoxidase deficiency in a premature neonate. (11055615)
2000
14
Myeloperoxidase deficiency]. (11212684)
2000
15
Myeloperoxidase deficiency associated with atypical oral candidiasis: A clinical report. (10479248)
1999
16
Pattern of inheritance in hereditary myeloperoxidase deficiency associated with the R569W missense mutation. (9468285)
1998
17
Myeloperoxidase deficiency]. (9833429)
1998
18
Biochemical and molecular characterization of hereditary myeloperoxidase deficiency. (9354683)
1997
19
Pustular psoriasis in a patient with myeloperoxidase deficiency. (8944359)
1996
20
A case of familial myeloperoxidase deficiency associated with Raynaud's disease]. (7658131)
1995
21
Hereditary myeloperoxidase deficiency due to a missense mutation of arginine 569 to tryptophan. (7904599)
1994
22
Myeloperoxidase deficiency: an epidemiological study and flow-cytometric detection of other granular enzymes in myeloperoxidase-deficient subjects. (7948307)
1994
23
Myeloperoxidase deficiency and severe sepsis. (8391723)
1993
24
Molecular analysis of myeloperoxidase deficiency shows heterogeneous patterns of the complete deficiency state manifested at the genomic, mRNA, and protein levels. (8394754)
1993
25
Myeloperoxidase deficiency in a patient with rheumatoid arthritis: oxygenation and radical activity by phagocytic cells. (8381323)
1993
26
Myeloperoxidase deficiency as a predisposing factor for deep mucocutaneous candidiasis: a case report. (1846651)
1991
27
Neuromediated myeloperoxidase deficiency. (2162623)
1990
28
Acquired myeloperoxidase deficiency of neutrophils in a patient with aplastic anemia (idiopathic marrow aplasia). (2844051)
1988
29
Myeloperoxidase deficiency in neutrophils of neonates. (2832581)
1988
30
Myeloperoxidase deficiency. (2831185)
1988
31
Depressed neutrophil-mediated tumor cell cytotoxicity in subjects affected by hereditary myeloperoxidase deficiency and secondary neoplasia. (2848754)
1988
32
Detection of eosinophilic total myeloperoxidase deficiency (EPOd) by flow cytometry. (2826316)
1987
33
Response of a case of myelodysplastic syndrome with partial myeloperoxidase deficiency to continuous infusion of low-dose cytosine arabinoside. (2831627)
1987
34
Does a relationship exist between neutrophil myeloperoxidase deficiency and the occurrence of neoplasms? (3039142)
1987
35
Myeloperoxidase biosynthesis by a human promyelocytic leukemia cell line: insight into myeloperoxidase deficiency. (3006833)
1986
36
Myeloperoxidase deficiency. Increased sensitivity for immunocytochemical compared to cytochemical detection of enzyme. (2996459)
1985
37
A simple reliable assay for myeloperoxidase activity in mixed neutrophil-eosinophil cell suspensions: application to detection of myeloperoxidase deficiency. (6325545)
1984
38
Biochemical and immunologic analysis of hereditary myeloperoxidase deficiency. (6189859)
1983
39
Hereditary myeloperoxidase deficiency: a rare condition? Diagnostic possibilities of a differential white cell autoanalyzer (Hemalog-D). (6321302)
1983
40
Incidence of myeloperoxidase deficiency in an area of northern Italy: histochemical, biochemical and functional studies. (6280744)
1982
41
Partial myeloperoxidase deficiency. (6282028)
1982
42
Myeloperoxidase deficiency: prevalence and clinical significance. (6267975)
1981
43
Impaired neutrophil function and myeloperoxidase deficiency in pregnancy. (6246914)
1980
44
Hereditary myeloperoxidase deficiency. (216438)
1979
45
Leukocyte myeloperoxidase deficiency and diabetes mellitus associated with Candida albicans liver abscess. (217268)
1979
46
Induction of myeloperoxidase deficiency in granulocytes in lead-intoxicated dogs. (218596)
1979
47
Primary myeloperoxidase deficiency associated with impaired neutrophil margination and chemotaxis. (231890)
1979
48
Refractory megaloblastic anemia with myeloperoxidase-deficient neutrophils. (5015919)
1972
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

Variations for Myeloperoxidase Deficiency

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

62
id Symbol AA change Variation ID SNP ID
1MPOp.Tyr173CysVAR_015377rs78950939
2MPOp.Met251ThrVAR_015378rs56378716
3MPOp.Arg569TrpVAR_015379

Clinvar genetic disease variations for Myeloperoxidase Deficiency:

6
id Gene Variation Type Significance SNP ID Assembly Location
1MPONM_000250.1(MPO): c.1705C> T (p.Arg569Trp)single nucleotide variantPathogenicrs119468010GRCh37Chr 17, 56350196: 56350196
2MPONM_000250.1(MPO): c.518A> G (p.Tyr173Cys)single nucleotide variantPathogenicrs78950939GRCh37Chr 17, 56356914: 56356914
3MPONM_000250.1(MPO): c.752T> C (p.Met251Thr)single nucleotide variantPathogenicrs56378716GRCh37Chr 17, 56356502: 56356502
4MPOMPO, 14-BP DELdeletionPathogenic
5MPONM_000250.1(MPO): c.995C> T (p.Ala332Val)single nucleotide variantPathogenicrs28730837GRCh37Chr 17, 56355397: 56355397
6MPONM_000250.1(MPO): c.1715T> G (p.Leu572Trp)single nucleotide variantPathogenicrs119469012GRCh37Chr 17, 56350186: 56350186
7MPOMPO, IVS11AS, A-C, -2, 109-BP DELdeletionPathogenic
8MPONM_000250.1(MPO): c.1501G> A (p.Gly501Ser)single nucleotide variantPathogenicrs119469013GRCh37Chr 17, 56350895: 56350895
9MPONM_000250.1(MPO): c.1495C> T (p.Arg499Cys)single nucleotide variantPathogenicrs119469014GRCh37Chr 17, 56350901: 56350901

Expression for genes affiliated with Myeloperoxidase Deficiency

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Search GEO for disease gene expression data for Myeloperoxidase Deficiency.

Pathways for genes affiliated with Myeloperoxidase Deficiency

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Compounds for genes affiliated with Myeloperoxidase Deficiency

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GO Terms for genes affiliated with Myeloperoxidase Deficiency

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Products for genes affiliated with Myeloperoxidase Deficiency

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Sources for Myeloperoxidase Deficiency

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCIt
39NDF-RT
42NINDS
43Novoseek
45OMIM
46OMIM via Orphanet
50PubMed
51QIAGEN
56SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet