TFR2, transferrin receptor 2, 7036

N. diseases: 92; N. variants: 50
Disease: Iron Overload ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0282193
Disease: Iron Overload
Iron Overload 		0.100 GeneticVariation disease BEFREE Transferrin receptor-2 (TFR2) mutation Y250X in Alabama Caucasian and African American subjects with and without primary iron overload. 11358388 2001
CUI: C0282193
Disease: Iron Overload
Iron Overload 		0.100 GeneticVariation disease BEFREE Transferrin receptor 2 (TfR2) and HFE mutational analysis in non-C282Y iron overload: identification of a novel TfR2 mutation. 12130528 2002
CUI: C0282193
Disease: Iron Overload
Iron Overload 		0.100 AlteredExpression disease BEFREE Transferrin receptor 2 is primarily expressed in the liver but it is unclear how mutant forms cause iron overload. 12382200 2002
CUI: C0282193
Disease: Iron Overload
Iron Overload 		0.100 Biomarker disease BEFREE TFR2-related hereditary hemochromatosis as a frequent cause of primary iron overload in patients from Central-Southern Italy. 24055163 2014
CUI: C0282193
Disease: Iron Overload
Iron Overload 		0.100 AlteredExpression disease BEFREE An HFE-independent pathway that seems to involve TFR2 and HJV can regulate HAMP expression under conditions of iron overload. 16103673 2005
CUI: C0282193
Disease: Iron Overload
Iron Overload 		0.100 GeneticVariation disease BEFREE Analysis of HFE and TFR2 mutations in selected blood donors with biochemical parameters of iron overload. 12681966 2003
CUI: C0282193
Disease: Iron Overload
Iron Overload 		0.100 GeneticVariation disease BEFREE Defects in TfR2 cause systemic iron overload, hemochromatosis, through down-regulation of hepcidin. 29969719 2019
CUI: C0282193
Disease: Iron Overload
Iron Overload 		0.100 GeneticVariation disease BEFREE Finally, we also tested for this TFR2 mutation 20 H63D homozygotes with milder manifestations of iron overload and no acquired cause of iron overload. 11358390 2001
CUI: C0282193
Disease: Iron Overload
Iron Overload 		0.100 GeneticVariation disease BEFREE Finally, we suggest that iron overload phenotypes associated with mutations in TFR2 may be intermediate between those related to mutations in HFE and those related to mutations in juvenile hemochromatosis genes. 15147384 2004
CUI: C0282193
Disease: Iron Overload
Iron Overload 		0.100 GeneticVariation disease BEFREE Four types of inherited iron overload have been recognized: type 1, the most common form with an autosomal recessive inheritance, is associated with mutations in the HFE gene on chromosome 6; type 2 (juvenile hemochromatosis) is an autosomal recessive disorder with causative mutations identified in the HJV gene (subtype A) on chromosome 1 and the HAMP gene (subtype B) on chromosome 19; type 3 has also an autosomal recessive inheritance with mutations in the TfR2 gene on chromosome 3; type 4 is an autosomal dominant condition with heterozygous mutations in the ferroportin 1 gene on chromosome 2. 16493621 2006
CUI: C0282193
Disease: Iron Overload
Iron Overload 		0.100 GeneticVariation disease BEFREE Hemochromatosis and severe iron overload associated with compound heterozygosity for TFR2 R455Q and two novel mutations TFR2 R396X and G792R. 16424658 2006
CUI: C0282193
Disease: Iron Overload
Iron Overload 		0.100 GeneticVariation disease BEFREE Hepcidin deficiency underlies iron overload in HFE-hemochromatosis as well as in several other genetic iron excess disorders, such as hemojuvelin or hepcidin-related hemochromatosis and transferrin receptor 2-related hemochromatosis. 21862411 2011
CUI: C0282193
Disease: Iron Overload
Iron Overload 		0.100 GeneticVariation disease BEFREE Homozygosity for transferrin receptor-2 Y250X mutation induces early iron overload. 15020277 2004
CUI: C0282193
Disease: Iron Overload
Iron Overload 		0.100 GeneticVariation disease BEFREE Homozygous p.M172K mutation of the TFR2 gene in an Italian family with type 3 hereditary hemochromatosis and early onset iron overload. 16923517 2006
CUI: C0282193
Disease: Iron Overload
Iron Overload 		0.100 Biomarker disease BEFREE Identification of HFE, the gene most commonly mutated in patients with hereditary hemochromatosis, has allowed molecular diagnosis and paved the way for identification of other genes, such as TFR2, that are important in non-HFE-associated iron overload. 11673399 2001
CUI: C0282193
Disease: Iron Overload
Iron Overload 		0.100 Biomarker disease BEFREE Identification of new mutations of the HFE, hepcidin, and transferrin receptor 2 genes by denaturing HPLC analysis of individuals with biochemical indications of iron overload. 14633868 2003
CUI: C0282193
Disease: Iron Overload
Iron Overload 		0.100 AlteredExpression disease BEFREE In contrast, TfR2 levels were reduced in hypotransferrinemic mice despite liver iron overload, supporting the idea that regulation of the receptor is dependent on Tf. 15319276 2004
CUI: C0282193
Disease: Iron Overload
Iron Overload 		0.100 Biomarker disease BEFREE In mice, deletion of the iron hormone hepcidin and any of 8 genes that regulate its biology, including Hfe, transferrin receptor 2 (Tfr2), and hemojuvelin (Hjv) (which all sense the accumulation of iron that hepcidin corrects) or ferroportin (Fpn) (the cellular iron exporter down-regulated by hepcidin), cause iron overload but not organ disease. 20542038 2010
CUI: C0282193
Disease: Iron Overload
Iron Overload 		0.100 GeneticVariation disease BEFREE In particular, the identification of the haemochromatosis gene (HFE) and more recently the transferrin receptor 2 gene (TfR2) together with the specific mutations in these genes which result in hepatic iron overload, has enhanced our understanding of the pathophysiology of haemochromatosis. 11886477 2002
CUI: C0282193
Disease: Iron Overload
Iron Overload 		0.100 AlteredExpression disease BEFREE Individuals with pathogenic mutations in HFE, hemojuvelin (HJV) and transferrin receptor 2 (TfR2) have low levels of hepcidin, but little is known about the hepatic expression of these molecules in patients with physiological iron overload or HFE associated Hemochromatosis (HH). 17098454 2007
CUI: C0282193
Disease: Iron Overload
Iron Overload 		0.100 AlteredExpression disease BEFREE Liver volume, peripheral hemogram, bone marrow pathology, serum iron, serum ferritin, pathological iron deposition in multiple organs (liver, bone marrow, spleen), liver hepcidin, and bone morphogenetic protein 6 (BMP6), SMAD family member 4 (SMAD4) and transferrin receptor 2 (TfR2) mRNA expression levels were compared among the normal control, AA, iron overload and composite model groups to validate the composite model, and explore the pathogenesis and features of iron overload in this model. 29434729 2018
CUI: C0282193
Disease: Iron Overload
Iron Overload 		0.100 GeneticVariation disease BEFREE Mutations in TfR2 result in iron overload with similar features to HFE-associated hereditary hemochromatosis. 18094142 2008
CUI: C0282193
Disease: Iron Overload
Iron Overload 		0.100 Biomarker disease BEFREE No mutations were found in the other hemochromatosis genes, hepcidin, HFE, ferroportin or transferrin receptor 2, which might have contributed to her iron overload. 16424663 2006
CUI: C0282193
Disease: Iron Overload
Iron Overload 		0.100 GeneticVariation disease BEFREE The transferrin receptor 2 (TFR2) and hereditary hemochromatosis (HFE) genes were examined to see if inheritance of these gene defects may be a possible cause of iron overload in 45 HbH patients. 12667993 2004
CUI: C0282193
Disease: Iron Overload
Iron Overload 		0.100 GeneticVariation disease BEFREE The tfr2 mutant model in zebrafish recapitulates the defining features of HH3: iron overload and suppression of hepcidin, the iron regulatory hormone. 29897731 2018