MCID: MYL013
MIFTS: 40

Myeloperoxidase Deficiency malady

Genetic diseases, Rare diseases, Blood diseases categories

Aliases & Classifications for Myeloperoxidase Deficiency

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Sources:
49OMIM, 11diseasecard, 45NIH Rare Diseases, 51Orphanet, 24GTR, 65UMLS, 67UniProtKB/Swiss-Prot, 47Novoseek, 28ICD10 via Orphanet, 66UMLS via Orphanet, 34MedGen, 36MeSH
See all sources

Aliases & Descriptions for Myeloperoxidase Deficiency:

Name: Myeloperoxidase Deficiency 49 11 45 51 24 65 67
Mpo Deficiency 45 47 51 67
 
Mpod 67


Classifications:



External Ids:

OMIM49 254600
Orphanet51 2587
ICD10 via Orphanet28 E80.3
UMLS via Orphanet66 C0398595
MedGen34 C0398595
MeSH36 D002177

Summaries for Myeloperoxidase Deficiency

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UniProtKB/Swiss-Prot:67 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 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), and among its related pathways are Protein processing in endoplasmic reticulum and Virus Assembly and Release. Affiliated tissues include neutrophil, monocytes and testes.

Wikipedia:68 Myeloperoxidase deficiency is a common genetic disorder featuring deficiency, either in quantity or of... more...

Description from OMIM:49 254600

Related Diseases for Myeloperoxidase Deficiency

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

(show all 14)
idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
SeleniumPhase 41617782-49-2
Synonyms:
Selanediide
Selenide
 
Selenide(2-)
Selenium
Selenium ion (Se2+)
2methionineNutraceuticalPhase 470
3
IronapprovedPhase 29577439-89-623925
Synonyms:
02583_FLUKA
12310_ALDRICH
12310_RIEDEL
129048-51-7
14067-02-8
161135-39-3
190454-13-8
195161-83-2
199281-22-6
209309_ALDRICH
209309_SIAL
255637_ALDRICH
266213_ALDRICH
266256_ALDRICH
267945_ALDRICH
267953_ALDRICH
26Fe
338141_ALDRICH
356808_ALDRICH
356824_ALDRICH
356832_ALDRICH
39344-71-3
3ZhP
413054_ALDRICH
443783-52-6
44890_ALDRICH
44890_FLUKA
675141-17-0
70884-35-4
73135-38-3
7439-89-6
8011-79-8
8053-60-9
AC1L2N38
ATW 230
ATW 432
Ancor B
Ancor en 80/150
Armco iron
Atomel 28
Atomel 300M200
Atomel 500M
Atomel 95
Atomiron 44MR
Atomiron 5M
Atomiron AFP 25
Atomiron AFP 5
C00023
C3518_SIAL
C3518_SIGMA
CCRIS 1580
CHEBI:18248
CID23925
Carbonyl iron
Copy Powder CS 105-175
D007501
DB01592
DSP 1000
DSP 128B
DSP 135
DSP 135C
DSP 138
Dexiron
Diseases (animal), iron overload
Diseases, iron overload
EF 1000
EF 250
EFV 200/300
EFV 250
EFV 250/400
EINECS 231-096-4
Ed-In-Sol
 
Eisen
F 60 (metal)
FE
FT 3 (element)
Fe
Fe-40
Fe1+
Feraheme
Feronate
Ferretts
Ferrlecit
Ferro-Caps
Ferro-Time
Ferrousal
Ferrovac E
Ferrum
GS 6
HF 2 (element)
HL (iron)
HQ (metal)
HS (iron)
HS 4849
HSDB 604
Hemocyte
Hierro
Hoeganaes ATW 230
Hoeganaes EH
IRMM524A_FLUKA
IRMM524B_FLUKA
IRON
Infufer
Iron
Iron (Fe)
Iron (Fe1+)
Iron ion (Fe+)
Iron ion(1+)
Iron monocation
Iron standard for AAS
Iron(1+)
Iron(1+) ion
Iron(III) nitrate solution
Iron, elemental
Iron, ion (Fe1+)
Iron, ion (Fe1+) (8CI,9CI)
LOHA
LS-3196
MolPort-003-925-001
NC 100
PZh-1M3
PZh-2
PZh1M1
PZh2M
PZh2M1
PZh2M2
PZh3
PZh3M
PZh4M
PZhO
Remko
SUY-B 2
Siderol
UNII-E1UOL152H7
Venofer
Vitedyn-Slo
Yieronia
fer
ferrous ascorbate
ferrous fumarate
ferrous gluconate
ferrous glycine sulfate
ferrous iron
ferrous succinate
ferrous sulfate
hierro
4
Vitamin Aapproved, nutraceuticalPhase 238611103-57-4, 68-26-8445354
Synonyms:
(2E,4E,6E,8E)-3,7-dimethyl-9-(2,6,6-trimethylcyclohex-1-en-1-yl)nona-2,4,6,8-tetraen-1-ol
(2E,4E,6E,8E)-3,7-dimethyl-9-(2,6,6-trimethylcyclohexen-1-yl)nona-2,4,6,8-tetraen-1-ol
(2e,4e,6e,8e)-3,7-Dimethyl-9-(2,6,6-trimethylcyclohex-1-en-1-yl)nona-2,4,6,8-tetraen-1-ol
(all-E)-3,7-Dimethyl-9-(2,6,6-trimethyl-1-cyclohexen-1-yl)-2,4,6,8-nonatetraen-1-ol
.alpha.lin
.alpha.sterol
.beta.-Retinol
11103-57-4
13123-33-6
1341-18-0
1406-67-3
17104-91-5
1rbp
3,7-Dimethyl-9-(2,6,6-trimethyl-1-cyclchexen-1-yl)-2,4,6,8-nonatetraen-1-ol
3,7-Dimethyl-9-(2,6,6-trimethyl-1-cyclohexen-1-yl)-2,4,6,8-nonate-traen-1-ol
3,7-Dimethyl-9-(2,6,6-trimethyl-1-cyclohexen-1-yl)-2,4,6,8-nonatetraen-1-ol
3,7-Dimethyl-9-(2,6,6-trimethyl-1-cyclohexenyl)-2,4,6,8-nonatetraen-1-ol
3,7-dimethyl-9-(2,6,6-trimethyl-1-cyclohexen-1-yl)-2,4,6,8-nonatetraen-1-ol, (all-E)-Isomer
4-06-00-04133 (Beilstein Handbook Reference)
53637-36-8
5979-23-7
68-26-8
95144_FLUKA
95144_SIGMA
95146_FLUKA
95146_SIGMA
A-Mulsal
A-Sol
A-Vi-Pel
A-Vitan
AC-11701
AC1L9HU3
AC1Q7BU9
ACON
ALL-TRANS RETINOL (SEE ALSO RETINOID PROJECT 1)
AR-1L3057
ATAV
Afaxin
Agiolan
Agoncal
Alcohol 9,13-dimethyl-7-(1,1,5-trimethyl-6-cyclohexen-5-yl)-7,9,11,13-nonatetraen-15-ol
Alcovit A
All Trans Retinol
All-trans retinol
All-trans-Retinol
Alphalin
Alphasterol
Anatola
Anatola A
Anti-infective vitamin
Antixerophthalmic vitamin
Antixerophthalmisches Vitamin
Aoral
Apexol
Apostavit
Aquasol A
Aquasol A Parenteral
Aquasynth
Atars
Avibon
Avita
Avitol
Axerol
Axerophthol
Axerophtholum
BIDD:PXR0102
BRN 0403040
Bentavit A
Biosterol
C00473
C17276
C20H30O
CCRIS 5444
CHEBI:17336
CHEMBL986
CID445354
Chocola A
Chocola a
Cylasphere
D014801
D06543
DB00162
Del-VI-A
Disatabs Tabs
Dofsol
Dohyfral A
EINECS 200-683-7
EINECS 234-328-2
Epiteliol
HMS1921B04
HMS2092L13
HMS501I08
HSDB 815
Hi-A-Vita
Homagenets Aoral
Homagenets aorl
Hydrovit A
IDI1_000486
LMPR01090001
LPK
LS-1578
Lard Factor
M.V.C. 9+3
M.V.I.-12
 
MLS001066379
MLS001074751
MolPort-001-785-962
Mvc Plus
Myvpack
NCGC00091784-01
NCGC00091784-02
NCGC00091784-03
NCGC00091784-04
NCGC00091784-05
NCGC00091784-06
NSC 122759
NSC122759
Nio-A-Let
Oleovitamin A
Ophthalamin
Plivit A
Prepalin
R7632_SIGMA
Retin-11,12-t2-ol (9CI)
Retinol
Retinol [INN:BAN]
Retinol solution
Retinol, all-trans- (8CI)
Retinol-(cellular-retinol-binding-protein)
Retinolo
Retinolo [DCIT]
Retinolum
Retinolum [INN-Latin]
Retrovitamin A
Ro-a-vit
Rovimix A 500
SDCCGMLS-0066724.P001
SMP2_000102
SMR000112036
SPECTRUM1501203
ST057232
Sehkraft A
Solu-A
Spectrum5_000993
Spectrum5_001997
Super A
Testavol
Testavol S
Thalasphere
UNII-81G40H8B0T
UNII-G2SH0XKK91
Vaflol
Vafol
Veroftal
Vi-.alpha.
Vi-Alpha
Vi-Dom-A
Vi-a
Vio-A
Vitamin A
Vitamin A (Feed)
Vitamin A (USP)
Vitamin A alcohol
Vitamin A alcohol (VAN)
Vitamin A cryst
Vitamin A palmitate
Vitamin A1
Vitamin A1 alcohol
Vitamin A1 alcohol, all trans
Vitamin a
Vitamin- A
Vitamin- A alcohol
Vitamin- A alcohol solution
Vitamin- A1
Vitamin-?A
Vitamin-?A alcohol
Vitamin-?A alcohol solution
Vitamin-?A1
Vitamine A
Vitaminum A
Vitavel A
Vitavel-A
Vitpex
Vogan
Vogan-Neu
Vogan-nu
WLN: L6UTJ A1 B1U1Y1&U2U1Y1&U2Q C1 C1
Wachstumsvitamin
ZINC03831417
Zinosan N
[11,12-3H]-Retinol
alin
all-trans-3,7-Dimethyl-9-(2,6,6-trimethyl-1-cyclohexen-1-yl)-2,4,6,8-nonatetraen-1-ol
all-trans-Retinol
all-trans-Retinyl alcohol
all-trans-Vitamin A
all-trans-Vitamin A alcohol
all-trans-Vitamin A1
all-trans-retinol
all-trans-retinyl alcohol
all-trans-vitamin A alcohol
b-Retinol
beta-Retinol
retinol
tROL
trans-Retinol
trans-Retinol acid (Vitamin A)
trans-Vitamin A alcohol
trans-retinol
5DextransPhase 269
6Retinol palmitatePhase 2386
7Iron-Dextran ComplexPhase 262
8Plasma SubstitutesPhase 2125
9Ferric CompoundsPhase 2114
10Blood SubstitutesPhase 2138
11Ferric oxide, saccharatedPhase 271
12retinolNutraceuticalPhase 2386
13Selenic Acid4
14Selenium SupplementNutraceutical6

Interventional clinical trials:

idNameStatusNCT IDPhase
1Selenium Supplementation in PregnancyRecruitingNCT01465867Phase 4
2Intravenous Ferric Carboxymaltose (FCM) Versus IV Iron Sucrose or IV Iron Dextran in Treating Iron Deficiency Anemia in WomenRecruitingNCT01290315Phase 2
3Prospective, Non-randomized Observational Trial of Selenium in Cardiac SurgeryCompletedNCT01394068
4Optimization of Selenoprotein P in Chinese SubjectsCompletedNCT00428649
5Molecular Basis of Human Phagocyte Interactions With Bacterial PathogensRecruitingNCT00339287
6Selenium Supplementation of Patients With CirrhosisTerminatedNCT00212212

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 Deficiency24

Anatomical Context for Myeloperoxidase Deficiency

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MalaCards organs/tissues related to Myeloperoxidase Deficiency:

33
Neutrophil, Monocytes, Testes, Lung, Endothelial, Liver, Myeloid

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:

67
id Symbol AA change Variation ID SNP ID
1MPOp.Tyr173CysVAR_015377rs78950939
2MPOp.Met251ThrVAR_015378rs56378716
3MPOp.Arg569TrpVAR_015379

Clinvar genetic disease variations for Myeloperoxidase Deficiency:

5
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
4MPONM_000250.1(MPO): c.1555_1568delATGGAACCCAACCC (p.Met519Profs)deletionPathogenicrs536522394GRCh37Chr 17, 56350828: 56350841
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
7MPONM_000250.1(MPO): c.2031-2A> Csingle nucleotide variantPathogenicrs35897051GRCh37Chr 17, 56348226: 56348226
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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Pathways related to Myeloperoxidase Deficiency according to GeneCards Suite gene sharing:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.3CALR, CANX
2
Show member pathways
9.3CALR, CANX
39.3CALR, CANX
4
Show member pathways
9.1CAT, MPO
5
Show member pathways
9.1CAT, MPO
68.8CALR, CANX, MPO

GO Terms for genes affiliated with Myeloperoxidase Deficiency

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

idNameGO IDScoreTop Affiliating Genes
1integral component of lumenal side of endoplasmic reticulum membraneGO:00715569.9CALR, CANX
2smooth endoplasmic reticulumGO:00057909.6CALR, CANX
3endoplasmic reticulum lumenGO:00057889.2CALR, CANX
4endoplasmic reticulumGO:00057838.8CALR, CANX, CAT
5extracellular exosomeGO:00700628.0CALR, CANX, CAT, MPO

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

(show all 9)
idNameGO IDScoreTop Affiliating Genes
1chaperone-mediated protein foldingGO:00610779.7CALR, CANX
2antigen processing and presentation of peptide antigen via MHC class IGO:00024749.7CALR, CANX
3protein foldingGO:00064579.6CALR, CANX
4protein N-linked glycosylation via asparagineGO:00182799.6CALR, CANX
5protein folding in endoplasmic reticulumGO:00349759.5CALR, CANX
6response to oxidative stressGO:00069799.1CAT, MPO
7agingGO:00075689.1CANX, CAT
8hydrogen peroxide catabolic processGO:00427449.0CAT, MPO
9response to estradiolGO:00323558.7CALR, CAT

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

idNameGO IDScoreTop Affiliating Genes
1glycoprotein bindingGO:00019489.7CALR, CANX
2carbohydrate bindingGO:00302469.7CALR, CANX
3unfolded protein bindingGO:00510829.2CALR, CANX
4heme bindingGO:00200379.1CAT, MPO

Sources for Myeloperoxidase Deficiency

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet