MCID: MYL013
MIFTS: 46

Myeloperoxidase Deficiency malady

Categories: Genetic diseases, Rare diseases, Blood diseases

Aliases & Classifications for Myeloperoxidase Deficiency

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Sources:
12diseasecard, 27GTR, 31ICD10 via Orphanet, 37MedGen, 39MeSH, 48NIH Rare Diseases, 50Novoseek, 52OMIM, 54Orphanet, 64The Human Phenotype Ontology, 68UMLS, 69UMLS via Orphanet, 70UniProtKB/Swiss-Prot
See all MalaCards sources

Aliases & Descriptions for Myeloperoxidase Deficiency:

Name: Myeloperoxidase Deficiency 52 48 54 70 27 12 68
Mpo Deficiency 48 54 70 50
 
Mpod 70

Characteristics:

Orphanet epidemiological data:

54
myeloperoxidase deficiency:
Age of onset: All ages; Age of death: normal life expectancy

HPO:

64
myeloperoxidase deficiency:
Inheritance: autosomal recessive inheritance

Classifications:



External Ids:

OMIM52 254600
Orphanet54 ORPHA2587
UMLS via Orphanet69 C0398595
ICD10 via Orphanet31 E80.3
MedGen37 C0398595
MeSH39 D002177

Summaries for Myeloperoxidase Deficiency

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UniProtKB/Swiss-Prot:70 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 diplegia of upper limb, 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 Protein processing in endoplasmic reticulum. Affiliated tissues include neutrophil, monocytes and testes.

Wikipedia:71 Myeloperoxidase deficiency is an autosomal recessive genetic disorder featuring deficiency, either in... more...

Description from OMIM:52 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 & Phenotypes for Myeloperoxidase Deficiency

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Symptoms by clinical synopsis from OMIM:

254600

Clinical features from OMIM:

254600

Human phenotypes related to Myeloperoxidase Deficiency:

 64
id Description HPO Frequency HPO Source Accession
1 abnormality of blood and blood-forming tissues64 HP:0001871
2 abnormality of metabolism/homeostasis64 HP:0001939
3 abnormality of the immune system64 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 32)
idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
SeleniumPhase 41757782-49-2
Synonyms:
Selanediide
Selenide
 
Selenide(2-)
Selenium
Selenium ion (Se2+)
2AntioxidantsPhase 42928
3Protective AgentsPhase 47190
4Trace ElementsPhase 4, Phase 25802
5MicronutrientsPhase 4, Phase 25802
6methionineNutraceuticalPhase 480
7
IronapprovedPhase 211237439-89-623925
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
8
Vitamin Aapproved, nutraceutical, vet_approvedPhase 246811103-57-4, 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
9Iron-Dextran ComplexPhase 2, Phase 173
10Plasma SubstitutesPhase 2233
11Retinol palmitatePhase 2468
12DextransPhase 299
13AnticoagulantsPhase 22516
14Blood SubstitutesPhase 2246
15Ferric CompoundsPhase 2184
16Ferric oxide, saccharatedPhase 280
17HematinicsPhase 21630
18retinolNutraceuticalPhase 2468
19VaccinesPhase 16428
20
Lactuloseapproved944618-18-211333
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
21
Mannitolapproved, investigational26869-65-8453, 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
22
Zincapproved22317440-66-632051, 23994
Synonyms:
30Zn
Cinc
Zinc
Zinc ion
 
Zincum
Zink
Zn
Zn(ii)
Zn2+
23Zinc sulfateapproved667733-02-0
24
acetic acidapproved, Nutraceutical10764-19-7176
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
25Vitamins5095
26
Retinol acetate103127-47-910245972
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
27Dermatologic Agents5674
28Astringents49
29Adjuvants, Immunologic2484
30Selenic Acid4
31OliveNutraceutical258
32Selenium SupplementNutraceutical6

Interventional clinical trials:

idNameStatusNCT IDPhase
1Selenium Supplementation in PregnancyUnknown statusNCT01465867Phase 4
2Intravenous Ferric Carboxymaltose (FCM) Versus IV Iron Sucrose or IV Iron Dextran in Treating Iron Deficiency Anemia in WomenUnknown statusNCT01290315Phase 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 Deficiency27

Anatomical Context for Myeloperoxidase Deficiency

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MalaCards organs/tissues related to Myeloperoxidase Deficiency:

36
Neutrophil, Monocytes, Testes, Lung, Endothelial, Liver, Myeloid

Publications for Myeloperoxidase Deficiency

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Articles related to Myeloperoxidase Deficiency:

(show top 50)    (show all 104)
idTitleAuthorsYear
1
Homozygous Calreticulin mutations in patients with myelofibrosis lead to acquired myeloperoxidase deficiency. (27013444)
2016
2
Myeloperoxidase deficiency enhances zymosan phagocytosis associated with up-regulation of surface expression of CD11b in mouse neutrophils. (27701922)
2016
3
A nonsense mutation in the myeloperoxidase gene is responsible for hereditary myeloperoxidase deficiency in an Italian hound dog. (27296514)
2016
4
Complete Myeloperoxidase Deficiency: Beware the "False-Positive" Dihydrorhodamine Oxidation. (27301573)
2016
5
Diagnostic assays for myeloperoxidase and myeloperoxidase deficiency. (24504973)
2014
6
Myeloperoxidase deficiency attenuates nitrogen mustard-induced skin injuries. (24631667)
2014
7
Endothelial function in a mouse model of myeloperoxidase deficiency. (24707472)
2014
8
Myeloperoxidase deficiency ameliorates progression of chronic kidney disease in mice. (24990898)
2014
9
Myeloperoxidase deficiency: the secret under the flag of unstained cell. (24385801)
2013
10
Myeloperoxidase deficiency induces MIP-2 production via ERK activation in zymosan-stimulated mouse neutrophils. (23438680)
2013
11
A novel mutation in the myeloperoxidase gene in a Chinese female with complete myeloperoxidase deficiency: the role of nonsense-mediated mRNA decay. (23228855)
2013
12
Myeloperoxidase deficiency in mice exacerbates lung inflammation induced by nonviable Candida albicans. (23955550)
2013
13
Myeloperoxidase deficiency preserves vasomotor function in humans. (21724624)
2012
14
Myeloperoxidase deficiency in dogs observed with the ADVIAAr120. A retrospective study. (22290548)
2010
15
Association of primary myeloperoxidase deficiency and myeloproliferative neoplasm. (21088365)
2010
16
Myeloperoxidase deficiency attenuates lipopolysaccharide-induced acute lung inflammation and subsequent cytokine and chemokine production. (19494324)
2009
17
Lethal candida sepsis associated with myeloperoxidase deficiency and pre-eclampsia. (17614858)
2007
18
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
19
Diagnostic assays for myeloperoxidase deficiency. (18453132)
2007
20
Arginine to cysteine mutation (R499C) found in a Japanese patient with complete myeloperoxidase deficiency. (17017121)
2006
21
Genetic characterization of myeloperoxidase deficiency in Italy. (15108282)
2004
22
Myeloperoxidase deficiency enhances inflammation after allogeneic marrow transplantation. (15020295)
2004
23
Genetic studies on myeloperoxidase deficiency in Italy. (15507752)
2004
24
Novel missense mutation found in a Japanese patient with myeloperoxidase deficiency. (14980716)
2004
25
Myeloperoxidase has directly-opposed effects on nitration reaction--study on myeloperoxidase-deficient patient and myeloperoxidase-knockout mice. (12797467)
2003
26
Noma-like gangrenous cheilitis in a child with cyclic neutropenia associated with myeloperoxidase deficiency. (14651574)
2003
27
Prevalence of inherited myeloperoxidase deficiency in Japan. (12953846)
2003
28
Cavitating BOOP associated with myeloperoxidase deficiency in a floor cleaner with an incidental heavy exposure to benzalkonium compounds. (14646295)
2003
29
Low-density lipoprotein modification by normal, myeloperoxidase-deficient and NADPH oxidase-deficient granulocytes and the impact of redox active transition metal ions. (12189057)
2002
30
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
31
Differences in the accumulation of ascorbic acid in normal, myeloperoxidase deficient and NADPH-oxidase deficient granulocytes. (12214562)
2002
32
Characterization of nitric oxide consumption pathways by normal, chronic granulomatous disease and myeloperoxidase-deficient human neutrophils. (12421972)
2002
33
Increased atherosclerosis in myeloperoxidase-deficient mice. (11181641)
2001
34
Disseminated fungal infection associated with myeloperoxidase deficiency in a premature neonate. (11055615)
2000
35
Myeloperoxidase deficiency]. (11212684)
2000
36
Psoriasis and myeloperoxidase deficiency. (10971069)
2000
37
Consequences of total and subtotal myeloperoxidase deficiency: risk or benefit ? (11111115)
2000
38
Quality control in the endoplasmic reticulum: lessons from hereditary myeloperoxidase deficiency. (10482305)
1999
39
Myeloperoxidase deficiency associated with atypical oral candidiasis: A clinical report. (10479248)
1999
40
Myeloperoxidase deficiency]. (9833429)
1998
41
A novel form of hereditary myeloperoxidase deficiency linked to endoplasmic reticulum/proteasome degradation. (9637725)
1998
42
Pattern of inheritance in hereditary myeloperoxidase deficiency associated with the R569W missense mutation. (9468285)
1998
43
Clinical manifestation of myeloperoxidase deficiency. (9766845)
1998
44
Prevalence of myeloperoxidase deficiency: population studies using Bayer-Technicon automated hematology. (9766844)
1998
45
Biochemical and molecular characterization of hereditary myeloperoxidase deficiency. (9354683)
1997
46
Myeloperoxidase deficiency manifesting as pustular candidal dermatitis. (9114158)
1997
47
Idiopathic myelofibrosis with neutrophil myeloperoxidase deficiency: a case report. (9299865)
1997
48
Pustular psoriasis in a patient with myeloperoxidase deficiency. (8944359)
1996
49
Phagocytic activity and oxidative burst of granulocytes in persons with myeloperoxidase deficiency. (8960464)
1996
50
A case of familial myeloperoxidase deficiency associated with Raynaud's disease]. (7658131)
1995

Variations for Myeloperoxidase Deficiency

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

70
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)SNVPathogenicrs119468010GRCh37Chr 17, 56350196: 56350196
2MPONM_000250.1(MPO): c.518A> G (p.Tyr173Cys)SNVPathogenicrs78950939GRCh37Chr 17, 56356914: 56356914
3MPONM_000250.1(MPO): c.752T> C (p.Met251Thr)SNVPathogenicrs56378716GRCh37Chr 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)SNVPathogenicrs28730837GRCh37Chr 17, 56355397: 56355397
6MPONM_000250.1(MPO): c.1715T> G (p.Leu572Trp)SNVPathogenicrs119469012GRCh37Chr 17, 56350186: 56350186
7MPONM_000250.1(MPO): c.2031-2A> CSNVPathogenicrs35897051GRCh37Chr 17, 56348226: 56348226
8MPONM_000250.1(MPO): c.1501G> A (p.Gly501Ser)SNVPathogenicrs119469013GRCh37Chr 17, 56350895: 56350895
9MPONM_000250.1(MPO): c.1495C> T (p.Arg499Cys)SNVPathogenicrs119469014GRCh37Chr 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
1lysosomeGO:00057649.8CAT, MPO
2endoplasmic reticulum lumenGO:00057889.8CALR, CANX
3integral component of lumenal side of endoplasmic reticulum membraneGO:00715569.7CALR, CANX
4endoplasmic reticulumGO:00057839.3CALR, CANX, CAT
5smooth endoplasmic reticulumGO:00057909.0CALR, CANX
6extracellular exosomeGO:00700628.6CALR, 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:004274410.1CAT, MPO
2response to estradiolGO:00323559.9CALR, CAT
3antigen processing and presentation of peptide antigen via MHC class IGO:00024749.7CALR, CANX
4chaperone-mediated protein foldingGO:00610779.7CALR, CANX
5protein foldingGO:00064579.6CALR, CANX
6protein folding in endoplasmic reticulumGO:00349759.6CALR, CANX
7response to oxidative stressGO:00069799.4CAT, MPO
8agingGO:00075689.3CANX, CAT, MPO

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

idNameGO IDScoreTop Affiliating Genes
1heme bindingGO:002003710.0CAT, MPO
2carbohydrate bindingGO:00302469.7CALR, CANX
3glycoprotein bindingGO:00019489.6CALR, CANX
4unfolded protein bindingGO:00510829.0CALR, CANX

Sources for Myeloperoxidase Deficiency

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet