TMPRSS6, transmembrane serine protease 6, 164656

N. diseases: 113; N. variants: 86
Disease: Iron deficiency anemia ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0162316
Disease: Iron deficiency anemia
Iron deficiency anemia 		0.400 GeneticVariation disease BEFREE Iron supplementation therapeutic management in CD could depend on TMPRSS6 genotype that could predict persistent IDA despite iron supplementation and GFD. 29194702 2018
CUI: C0162316
Disease: Iron deficiency anemia
Iron deficiency anemia 		0.400 GeneticVariation disease BEFREE The aim of the study was to investigate the association of rs855791, rs4820268, rs5756506, rs2235324, rs2413450, rs2111833, rs228919, and rs733655 SNPs in TMPRSS6 gene with IDA susceptibility and iron-related clinical parameters. 29928945 2018
CUI: C0162316
Disease: Iron deficiency anemia
Iron deficiency anemia 		0.400 GeneticVariation disease BEFREE A child with severe iron-deficiency anemia and a complex TMPRSS6 genotype. 28447549 2017
CUI: C0162316
Disease: Iron deficiency anemia
Iron deficiency anemia 		0.400 GeneticVariation disease BEFREE Tmprss6-mutated mask mice display iron deficiency anemia and high expression of hepcidin. 29073189 2017
CUI: C0162316
Disease: Iron deficiency anemia
Iron deficiency anemia 		0.400 GeneticVariation disease BEFREE These results indicate that TMPRSS6 polymorphisms are more frequent in subjects with persistent IDA than in healthy controls, and in thalassemia carriers V736A variant may account for lower hemoglobin and MCV levels. 25557470 2015
CUI: C0162316
Disease: Iron deficiency anemia
Iron deficiency anemia 		0.400 GeneticVariation disease BEFREE Our study suggests homozygosity for TMPRSS6 rs855791 C genotype has a protective role against IDA in women at reproductive age, especially in those with menorrhagia. 24782651 2014
CUI: C0162316
Disease: Iron deficiency anemia
Iron deficiency anemia 		0.400 GeneticVariation disease BEFREE Thus, the phenotype associated with the unique combination of mutations uncovered in both patients expands the spectrum of disease associated with TMPRSS6 mutations to include iron deficiency anemia that is accompanied by hyperferritinemia at initial presentation and is responsive to continued oral iron therapy. 23319530 2013
CUI: C0162316
Disease: Iron deficiency anemia
Iron deficiency anemia 		0.400 Biomarker disease CTD_human Responsiveness to oral iron and ascorbic acid in a patient with IRIDA. 22169218 2012
CUI: C0162316
Disease: Iron deficiency anemia
Iron deficiency anemia 		0.400 GeneticVariation disease BEFREE Our findings suggest that TF, TFR2 and TMPRSS6 polymorphisms are significantly associated with decreased iron status, but only variants in TMPRSS6 are genetic risk factors for iron deficiency and IDA. 22323359 2012
CUI: C0162316
Disease: Iron deficiency anemia
Iron deficiency anemia 		0.400 GeneticVariation disease BEFREE After excluding all known causes responsible for iron deficiency anaemia we searched for mutations in SLC11A2 and TMPRSS6 that could explain the severe anaemia in these children. 22509377 2012
CUI: C0162316
Disease: Iron deficiency anemia
Iron deficiency anemia 		0.400 GeneticVariation disease BEFREE Inactivating mutations in TMPRSS6 lead to elevated hepcidin levels and consequent iron deficiency anemia. 20966077 2011
CUI: C0162316
Disease: Iron deficiency anemia
Iron deficiency anemia 		0.400 Biomarker disease BEFREE Genetic variability of TMPRSS6 and its association with iron deficiency anaemia. 20738301 2010
CUI: C0162316
Disease: Iron deficiency anemia
Iron deficiency anemia 		0.400 GeneticVariation disease BEFREE In addition, three children with iron refractory iron deficiency anemia, and one sibling with iron responsive iron deficiency anemia were also examined for polymorphisms or sporadic mutations in TMPRSS6. 19818657 2010
CUI: C0162316
Disease: Iron deficiency anemia
Iron deficiency anemia 		0.400 GeneticVariation disease BEFREE Mutations in matriptase-2 in mice and humans cause iron-deficiency anemia that responds poorly to iron therapy. 19386032 2009
CUI: C0162316
Disease: Iron deficiency anemia
Iron deficiency anemia 		0.400 GeneticVariation disease BEFREE Here, we show that iron deficiency anemia with poor intestinal absorption and defective iron utilization of IV iron is caused by inherited mutations in TMPRSS6, a liver-expressed gene that encodes a membrane-bound serine protease of previously unknown role that was recently reported to be a regulator of hepcidin expression. 18596229 2008
CUI: C0162316
Disease: Iron deficiency anemia
Iron deficiency anemia 		0.400 Biomarker disease CTD_human Here, we show that iron deficiency anemia refractory to oral iron therapy can be caused by germline mutations in TMPRSS6, which encodes a type II transmembrane serine protease produced by the liver that regulates the expression of the systemic iron regulatory hormone hepcidin. 18408718 2008
CUI: C0162316
Disease: Iron deficiency anemia
Iron deficiency anemia 		0.400 GeneticVariation disease BEFREE Here, we show that iron deficiency anemia refractory to oral iron therapy can be caused by germline mutations in TMPRSS6, which encodes a type II transmembrane serine protease produced by the liver that regulates the expression of the systemic iron regulatory hormone hepcidin. 18408718 2008