MCID: MYL013
MIFTS: 46

Myeloperoxidase Deficiency malady

Categories: Genetic diseases, Rare diseases, Blood diseases

Aliases & Classifications for Myeloperoxidase Deficiency

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Sources:
50OMIM, 46NIH Rare Diseases, 52Orphanet, 68UniProtKB/Swiss-Prot, 25GTR, 12diseasecard, 48Novoseek, 66UMLS, 29ICD10 via Orphanet, 67UMLS via Orphanet, 35MedGen, 37MeSH, 62The Human Phenotype Ontology
See all MalaCards sources

Aliases & Descriptions for Myeloperoxidase Deficiency:

Name: Myeloperoxidase Deficiency 50 46 52 68 25 12 66
Mpo Deficiency 46 52 68 48
 
Mpod 68

Characteristics:

Orphanet epidemiological data:

52
myeloperoxidase deficiency:
Age of onset: All ages; Age of death: normal life expectancy

HPO:

62
myeloperoxidase deficiency:
Inheritance: autosomal recessive inheritance


Classifications:



External Ids:

OMIM50 254600
Orphanet52 ORPHA2587
ICD10 via Orphanet29 E80.3
UMLS via Orphanet67 C0398595
MedGen35 C0398595
MeSH37 D002177

Summaries for Myeloperoxidase Deficiency

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UniProtKB/Swiss-Prot:68 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 abnormality of blood and blood-forming tissues, abnormality of metabolism/homeostasis and abnormality of the immune system. An important gene associated with Myeloperoxidase Deficiency is MPO (Myeloperoxidase), and among its related pathways are Folate Metabolism and Selenium Pathway. Affiliated tissues include neutrophil, monocytes and testes.

Wikipedia:69 Myeloperoxidase deficiency is an autosomal recessive genetic disorder featuring deficiency, either in... more...

Description from OMIM:50 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 abnormality of blood and blood-forming tissues HP:0001871
2 abnormality of metabolism/homeostasis HP:0001939
3 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 11)
idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
seleniumPhase 41717782-49-2
Synonyms:
Selanediide
Selenide
 
Selenide(2-)
Selenium
Selenium ion (Se2+)
2methionineNutraceuticalPhase 476
3
IronPhase 210807439-89-623925
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
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
Electrolytic iron
F 60 (metal)
FE
FT 3 (element)
Fe
Fe-40
Fe1+
Feronate
Ferretts
Ferro-Caps
Ferro-Time
Ferrousal
Ferrovac E
Ferrum
Ferrum metallicum
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
Iron (Fe)
Iron (Fe1+)
Iron ion (Fe+)
Iron ion(1+)
Iron monocation
Iron powder
Iron standard for AAS
Iron(1+)
Iron(1+) ion
Iron(III) nitrate solution
Iron, carbonyl
Iron, electrolytic
Iron, elemental
Iron, ion (Fe1+)
Iron, ion (Fe1+) (8CI,9CI)
Iron, reduced
LOHA
LS-3196
MolPort-003-925-001
NC 100
PZh-1M3
PZh-2
PZh1M1
PZh2M
PZh2M1
PZh2M2
PZh3
PZh3M
PZh4M
PZhO
Reduced iron
Remko
SUY-B 2
Siderol
UNII-E1UOL152H7
Vitedyn-Slo
Yieronia
fer
ferrous iron
hierro
4
Vitamin ANutraceuticalPhase 245011103-57-4, 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
(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 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
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 A1
Vitamin A1 alcohol
Vitamin A1 alcohol, all trans
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
5retinolNutraceuticalPhase 2450
6
Zinc21547440-66-632051, 23994
Synonyms:
30Zn
Cinc
Zinc
Zinc ion
 
Zincum
Zink
Zn
Zn(ii)
Zn2+
7
Retinol acetate97127-47-910245972
Synonyms:
13-cis-Retinyl acetate
Acetateall-trans-Retinol
Acetic acid, retinyl ester
All-trans-Retinyl acetate
All-trans-retinol acetate
All-trans-retinyl acetate
All-trans-retinylacetate
All-trans-vitamin a acetate
Crystalets
Davitan A 650
Myvak (van)
Myvax (van)
O(15)-Acetylretinol
O~15~-Acetyl-retinol
O~15~-Acetylretinol
 
RETINOL ACETATE (SEE RETINOIDPROJECTS 1 AND 3)
Retinol acetate
Retinol acetate (JP15)
Retinol, acetate
Retinol, acetate, all-trans- (8CI)
Retinol, acetate, labeled with tritium
Retinyl acetate
Trans-retinyl acetate
Trans-vitamin a acetate
Vitamin A acetate
Vitamin A1 acetate
Vitamin a acetate (tritiated)
Vitamin a acetate (van)
Vitamin a alcohol acetate
Vitamin a ester
Vitamin a, acetate
8
Lactulose924618-18-211333
Synonyms:
(2S,3R,4S,5R,6R)-2-[(2R,3S,4S,5R)-4,5-dihydroxy-2,5-bis(hydroxymethyl)oxolan-3-yl]oxy-6-(hydroxymethyl)oxane-3,4,5-triol
4-O-b-D-Galactopyranosyl-D-Fructofuranose
4-O-b-D-Galactopyranosyl-D-fructose
4-O-beta-D-Galactopyranosyl-D-Fructofuranose
4-O-beta-D-Galactopyranosyl-D-fructofuranose
4-O-beta-D-Galactopyranosyl-D-fructose
4-O-beta-delta-Galactopyranosyl-delta-Fructofuranose
4-O-beta-delta-Galactopyranosyl-delta-fructose
 
Bifiteral
Cephulac
D-Lactulose
Lactulosa
Lactulose
Lactulosum
delta-Lactulose
lactulosa
lactulosum
9Zinc sulfate657733-02-0
10
Mannitol25769-65-8453, 6251
Synonyms:
(2R,3R,4R,5R)-Hexane-1,2,3,4,5,6-hexaol
(2R,3R,4R,5R)-Hexane-1,2,3,4,5,6-hexol
(2R,3R,4R,5R)-hexane-1,2,3,4,5,6-hexol
(L)-Mannitol
1,2,3,4,5,6-Hexanehexol
123897-58-5
133-43-7
15719_ALDRICH
15719_RIEDEL
33440_RIEDEL
33440_SIGMA
36413-61-3
4-01-00-02841 (Beilstein Handbook Reference)
5149-40-6
63559_FLUKA
63559_SIGMA
63560_FLUKA
63565_FLUKA
63565_SIGMA
69-65-8
75398-80-0
85085-15-0
87-78-5
AB1002081
AC-12776
AC1L1M49
AC1Q28E5
AI3-19511
AR-1J3861
Ambap69-65-8
BRN 1721898
C00392
C6H14O6
CCRIS 369
CHEBI:16899
CHEMBL689
CID6251
Cordycepate
Cordycepic acid
D-(-)-Mannitol
D-Mannitol
D-Mannitol (JP15)
D-mannite
D-mannitol
D00062
D008353
DL-Mannitol
Diosmol
ED1D1E61-FEFB-430A-AFDC-D1F4A957FC3D
EINECS 200-711-8
EINECS 201-770-2
Fraxinine
HSDB 714
Hexahydroxyhexane
Hexanhexol
Invenex
Isotol
LS-1588
LS-89250
M0044
M1902_SIGMA
M4125_SIAL
M8429_SIAL
M9546_SIAL
M9647_SIAL
MANNITOL 10% W/ DEXTROSE 5% IN DISTILLED WATER
MANNITOL 15% W/ DEXTROSE 5% IN SODIUM CHLORIDE 0.45%
 
MANNITOL 25%
MANNITOL 5% W/ DEXTROSE 5% IN SODIUM CHLORIDE 0.12%
MLS001335977
MLS001335978
MTL
Manicol
Manitol
Maniton S
Maniton-S
Manna Sugar
Manna sugar
Mannazucker
Mannidex
Mannidex 16700
Mannigen
Mannistol
Mannit
Mannit p
Mannite
Mannitol
Mannitol (USP)
Mannitol (VAN)
Mannitol 10%
Mannitol 10% In Plastic Container
Mannitol 15%
Mannitol 15% In Plastic Container
Mannitol 20%
Mannitol 20% In Plastic Container
Mannitol 5%
Mannitol 5% In Plastic Container
Mannitol [USAN]
Mannitolum
Mannogem 2080
Marine Crystal
Marine crystal
MolPort-003-927-039
Mushroom sugar
NCGC00164246-01
NCI-C50362
NSC 407017
NSC 9256
OSMITROL 10% IN WATER IN PLASTIC CONTAINER
OSMITROL 15% IN WATER IN PLASTIC CONTAINER
OSMITROL 20% IN WATER IN PLASTIC CONTAINER
OSMITROL 5% IN WATER IN PLASTIC CONTAINER
Osmitrol
Osmitrol (TN)
Osmitrol 10% In Water
Osmitrol 15% In Water
Osmitrol 20% In Water
Osmitrol 5% In Water
Osmofundin
Osmosal
Resectisol
Resectisol In Plastic Container
SDM No. 35
SMR000857324
SORBITOL-MANNITOL IN PLASTIC CONTAINER
Sorbitol-Mannitol
TL806434
UNII-3OWL53L36A
ZINC02041302
bmse000099
cpd without stereochemical designation
e 421
e-421
e421
manita
mannitol
11
acetic acidNutraceutical10164-19-7176
Synonyms:
ACETATE ion
Acetate
Acetic acid, glacial
Acetic acid, ion(1-)
Azetat
CH3-COO(-)
Ethanoat
Ethanoate
Ethanoic acid
 
Ethylate
Ethylic acid
Glacial acetate
Glacial acetic acid
Kyselina octova
MeCO2 anion
Methanecarboxylate
Methanecarboxylic acid
Vinegar
Vinegar acid

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
3Safety and Immunogenicity of a Vaccine Dendritic Cell-based Pulsed With Autologous Heat-inactivated in HIV-1 Infected PatientsNot yet recruitingNCT02767193Phase 1
4Prospective, Non-randomized Observational Trial of Selenium in Cardiac SurgeryCompletedNCT01394068
5Optimization of Selenoprotein P in Chinese SubjectsCompletedNCT00428649
6Effect of Extra Virgin Olive Oil on Atherosclerosis Biomarkers in HIV-infected PatientsCompletedNCT00925795
7Molecular Basis of Human Phagocyte Interactions With Bacterial PathogensRecruitingNCT00339287
8Effects of EED on Zn Absorption and Retention in Children From a Standard DoseRecruitingNCT02760095
9Effects of EED on Zn Absorption and Retention in Children From a MNPRecruitingNCT02758444
10Selenium 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 Deficiency25

Anatomical Context for Myeloperoxidase Deficiency

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MalaCards organs/tissues related to Myeloperoxidase Deficiency:

34
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 103)
idTitleAuthorsYear
1
Homozygous Calreticulin mutations in patients with myelofibrosis lead to acquired myeloperoxidase deficiency. (27013444)
2016
2
Myeloperoxidase deficiency: the secret under the flag of unstained cell. (24385801)
2013
3
Myeloperoxidase deficiency preserves vasomotor function in humans. (21724624)
2012
4
Myeloperoxidase deficiency in dogs observed with the ADVIAAr120. A retrospective study. (22290548)
2010
5
Myeloperoxidase deficiency attenuates lipopolysaccharide-induced acute lung inflammation and subsequent cytokine and chemokine production. (19494324)
2009
6
Lethal candida sepsis associated with myeloperoxidase deficiency and pre-eclampsia. (17614858)
2007
7
Genetic characterization of myeloperoxidase deficiency in Italy. (15108282)
2004
8
Myeloperoxidase deficiency enhances inflammation after allogeneic marrow transplantation. (15020295)
2004
9
Genetic studies on myeloperoxidase deficiency in Italy. (15507752)
2004
10
Myeloperoxidase has directly-opposed effects on nitration reaction--study on myeloperoxidase-deficient patient and myeloperoxidase-knockout mice. (12797467)
2003
11
Noma-like gangrenous cheilitis in a child with cyclic neutropenia associated with myeloperoxidase deficiency. (14651574)
2003
12
Low-density lipoprotein modification by normal, myeloperoxidase-deficient and NADPH oxidase-deficient granulocytes and the impact of redox active transition metal ions. (12189057)
2002
13
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. (11861298)
2002
14
Increased atherosclerosis in myeloperoxidase-deficient mice. (11181641)
2001
15
Disseminated fungal infection associated with myeloperoxidase deficiency in a premature neonate. (11055615)
2000
16
Quality control in the endoplasmic reticulum: lessons from hereditary myeloperoxidase deficiency. (10482305)
1999
17
Myeloperoxidase deficiency]. (9833429)
1998
18
A novel form of hereditary myeloperoxidase deficiency linked to endoplasmic reticulum/proteasome degradation. (9637725)
1998
19
Biochemical and molecular characterization of hereditary myeloperoxidase deficiency. (9354683)
1997
20
Myeloperoxidase deficiency manifesting as pustular candidal dermatitis. (9114158)
1997
21
Idiopathic myelofibrosis with neutrophil myeloperoxidase deficiency: a case report. (9299865)
1997
22
Myeloperoxidase deficiency: an epidemiological study and flow-cytometric detection of other granular enzymes in myeloperoxidase-deficient subjects. (7948307)
1994
23
Myeloperoxidase deficiency in a patient with rheumatoid arthritis: oxygenation and radical activity by phagocytic cells. (8381323)
1993
24
Candida albicans meningitis in a child with myeloperoxidase deficiency. (8381226)
1993
25
Selective involvement of monocytes by acquired myeloperoxidase deficiency in a case of chronic myelomonocytic leukemia. (8389605)
1993
26
Myeloperoxidase deficiency as a predisposing factor for deep mucocutaneous candidiasis: a case report. (1846651)
1991
27
Neutrophilic dermatosis despite myeloperoxidase deficiency. (1851769)
1991
28
Neuromediated myeloperoxidase deficiency. (2162623)
1990
29
Myeloperoxidase deficiency. (1963623)
1990
30
Evidence for a pretranslational defect in hereditary and acquired myeloperoxidase deficiency. (2540860)
1989
31
Acquired myeloperoxidase deficiency of neutrophils in a patient with aplastic anemia (idiopathic marrow aplasia). (2844051)
1988
32
Myeloperoxidase deficiency. (2831185)
1988
33
Early recognition of hereditary myeloperoxidase deficiency by flow-through differential cell counters. (2836956)
1988
34
Response of a case of myelodysplastic syndrome with partial myeloperoxidase deficiency to continuous infusion of low-dose cytosine arabinoside. (2831627)
1987
35
Does a relationship exist between neutrophil myeloperoxidase deficiency and the occurrence of neoplasms? (3039142)
1987
36
Myeloperoxidase deficiency with extensive candidal osteomyelitis of the base of the skull. (2825109)
1987
37
Myeloperoxidase deficiency. Increased sensitivity for immunocytochemical compared to cytochemical detection of enzyme. (2996459)
1985
38
Biochemical and immunologic analysis of hereditary myeloperoxidase deficiency. (6189859)
1983
39
Acquired neutrophil myeloperoxidase deficiency: an indicator of subclinical activation of blood coagulation? (6326898)
1983
40
Incidence of myeloperoxidase deficiency in an area of northern Italy: histochemical, biochemical and functional studies. (6280744)
1982
41
Characterization of hereditary partial myeloperoxidase deficiency. (6278039)
1982
42
Hereditary myeloperoxidase deficiency: study of 12 cases. (6296995)
1982
43
Myeloperoxidase deficiency: prevalence and clinical significance. (6267975)
1981
44
Hereditary myeloperoxidase deficiency. (6260268)
1981
45
Hereditary myeloperoxidase deficiency. (216438)
1979
46
Leukocyte myeloperoxidase deficiency and diabetes mellitus associated with Candida albicans liver abscess. (217268)
1979
47
Induction of myeloperoxidase deficiency in granulocytes in lead-intoxicated dogs. (218596)
1979
48
Primary myeloperoxidase deficiency associated with impaired neutrophil margination and chemotaxis. (231890)
1979
49
Acquired myeloperoxidase deficiency and recurrent infections in a patient with acute myelomonocytic leukemia. (228840)
1979
50
Myeloperoxidase deficiency. Immunologic study of a genetic leukocyte defect. (4983030)
1970

Variations for Myeloperoxidase Deficiency

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

68
id Symbol AA change Variation ID SNP ID
1MPOp.Tyr173CysVAR_015377rs78950939
2MPOp.Met251ThrVAR_015378rs56378716
3MPOp.Arg569TrpVAR_015379rs119468010

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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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:00715569.7CALR, CANX
2smooth endoplasmic reticulumGO:00057909.5CALR, CANX
3lysosomeGO:00057649.4CAT, MPO
4endoplasmic reticulum lumenGO:00057889.4CALR, CANX
5endoplasmic reticulumGO:00057838.6CALR, CANX, CAT
6extracellular exosomeGO:00700627.9CALR, CANX, CAT, MPO

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

(show all 8)
idNameGO IDScoreTop Affiliating Genes
1hydrogen peroxide catabolic processGO:00427449.9CAT, MPO
2response to oxidative stressGO:00069799.8CAT, MPO
3antigen processing and presentation of peptide antigen via MHC class IGO:00024749.5CALR, CANX
4chaperone-mediated protein foldingGO:00610779.3CALR, CANX
5protein folding in endoplasmic reticulumGO:00349759.0CALR, CANX
6response to estradiolGO:00323559.0CALR, CAT
7protein foldingGO:00064579.0CALR, CANX
8agingGO:00075688.8CANX, CAT, MPO

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

idNameGO IDScoreTop Affiliating Genes
1heme bindingGO:00200379.7CAT, MPO
2carbohydrate bindingGO:00302469.4CALR, CANX
3unfolded protein bindingGO:00510829.0CALR, CANX
4glycoprotein bindingGO:00019488.9CALR, CANX

Sources for Myeloperoxidase Deficiency

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet