MPO, myeloperoxidase, 4353

N. diseases: 653; N. variants: 25
Disease: Myeloperoxidase Deficiency ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0398595
Disease: Myeloperoxidase Deficiency
Myeloperoxidase Deficiency 		0.800 Biomarker disease BEFREE Despite its roles in innate immunity, the importance of MPO in preventing infection is unclear, as individuals with MPO deficiency are asymptomatic with the exception of an increased risk of candidiasis. 31002727 2019
CUI: C0398595
Disease: Myeloperoxidase Deficiency
Myeloperoxidase Deficiency 		0.800 Biomarker disease BEFREE Here, we produced hematologic chimerism in the 5XFAD mouse model of AD, with MPO deficient mice, resulting in 5XFAD with hematologic MPO deficiency (5XFAD-MPO KO). 31611761 2019
CUI: C0398595
Disease: Myeloperoxidase Deficiency
Myeloperoxidase Deficiency 		0.800 AlteredExpression disease BEFREE The <sup>18</sup>F-MAPP PET imaging noninvasively differentiated varying amounts of MPO activity, competitive inhibition, and MPO deficiency in living animals, confirming specificity and showing that the radioprobe can quantify changes in in vivo MPO activity. 31123149 2019
CUI: C0398595
Disease: Myeloperoxidase Deficiency
Myeloperoxidase Deficiency 		0.800 Biomarker disease BEFREE Therefore, MPO inhibition with ABAH or MPO deficiency creates a protective environment that decreased inflammatory cell recruitment and increased expression of survival factors to improve functional outcome. 29673284 2019
CUI: C0398595
Disease: Myeloperoxidase Deficiency
Myeloperoxidase Deficiency 		0.800 CausalMutation disease CLINVAR Genetic characterization of myeloperoxidase deficiency in Italy. 15108282 2004
CUI: C0398595
Disease: Myeloperoxidase Deficiency
Myeloperoxidase Deficiency 		0.800 CausalMutation disease CLINVAR Clinical manifestation of myeloperoxidase deficiency. 9766845 1998
CUI: C0398595
Disease: Myeloperoxidase Deficiency
Myeloperoxidase Deficiency 		0.800 GeneticVariation disease BEFREE In addition, application of the analytical tools of cell and molecular biology has allowed definition of specific genotypes underlying MPO deficiency and the impact of particular mutations on the fate of MPO precursors along the biosynthetic pathway. 9766843 1998
CUI: C0398595
Disease: Myeloperoxidase Deficiency
Myeloperoxidase Deficiency 		0.800 Biomarker disease GENOMICS_ENGLAND We identified a novel missense mutation in the MPO gene at codon 173 whereby tyrosine is replaced with cysteine (Y173C) that is associated with MPO deficiency and assessed its impact on MPO processing and targeting in transfectants expressing normal or mutant proteins. 9637725 1998
CUI: C0398595
Disease: Myeloperoxidase Deficiency
Myeloperoxidase Deficiency 		0.800 GeneticVariation disease UNIPROT We identified a novel missense mutation in the MPO gene at codon 173 whereby tyrosine is replaced with cysteine (Y173C) that is associated with MPO deficiency and assessed its impact on MPO processing and targeting in transfectants expressing normal or mutant proteins. 9637725 1998
CUI: C0398595
Disease: Myeloperoxidase Deficiency
Myeloperoxidase Deficiency 		0.800 GeneticVariation disease UNIPROT Biochemical and molecular characterization of hereditary myeloperoxidase deficiency. 9354683 1997
CUI: C0398595
Disease: Myeloperoxidase Deficiency
Myeloperoxidase Deficiency 		0.800 GeneticVariation disease BEFREE We recently identified a missense mutation, R569W, in the MPO gene of many subjects with MPO deficiency. 8621627 1996
CUI: C0398595
Disease: Myeloperoxidase Deficiency
Myeloperoxidase Deficiency 		0.800 GeneticVariation disease UNIPROT We recently identified a missense mutation, R569W, in the MPO gene of many subjects with MPO deficiency. 8621627 1996
CUI: C0398595
Disease: Myeloperoxidase Deficiency
Myeloperoxidase Deficiency 		0.800 GeneticVariation disease UNIPROT Our results suggest that a point mutation at codon 569 of MPO gene represents one molecular form of MPO deficiency. 8142659 1994
CUI: C0398595
Disease: Myeloperoxidase Deficiency
Myeloperoxidase Deficiency 		0.800 GermlineCausalMutation disease ORPHANET Hereditary myeloperoxidase deficiency due to a missense mutation of arginine 569 to tryptophan. 7904599 1994
CUI: C0398595
Disease: Myeloperoxidase Deficiency
Myeloperoxidase Deficiency 		0.800 GeneticVariation disease UNIPROT Hereditary myeloperoxidase deficiency due to a missense mutation of arginine 569 to tryptophan. 7904599 1994
CUI: C0398595
Disease: Myeloperoxidase Deficiency
Myeloperoxidase Deficiency 		0.800 Biomarker disease BEFREE We conclude from these studies that (a) hereditary MPO deficiency is not associated with a major deletion or rearrangement of the MPO gene; (b) myeloid precursors in an MPO-deficient individual contain normal amounts of an mRNA that is the same size as that for MPO in normal individuals; and (c) the genetic basis for MPO deficiency may be heterogeneous, with at least two genotypes generating the same phenotype. 2462938 1989
CUI: C0398595
Disease: Myeloperoxidase Deficiency
Myeloperoxidase Deficiency 		0.800 GeneticVariation disease BEFREE Myeloperoxidase deficiency is likely a result of a mutation of the gene coding for myeloperoxidase. 2673450 1989
CUI: C0398595
Disease: Myeloperoxidase Deficiency
Myeloperoxidase Deficiency 		0.800 Biomarker disease BEFREE Although the contribution of myeloperoxidase to the chemiluminescence assay has been noted, the possible diagnostic confusion between chronic granulomatous disease of childhood (which is rare and severe) and myeloperoxidase deficiency (which is common and of little clinical consequence) has not been stressed. 6297833 1983
CUI: C0398595
Disease: Myeloperoxidase Deficiency
Myeloperoxidase Deficiency 		0.800 CausalMutation disease CLINVAR Hereditary myeloperoxidase deficiency. 6260268 1981
CUI: C0398595
Disease: Myeloperoxidase Deficiency
Myeloperoxidase Deficiency 		0.800 Biomarker disease BEFREE In close relatives of the patient, MPO values were found to be diminshed to a greater or lesser degree, thus suggesting variable expressivity of the heterozygote state of MPO deficiency. 216438 1979
CUI: C0398595
Disease: Myeloperoxidase Deficiency
Myeloperoxidase Deficiency 		0.800 Biomarker disease CTD_human