TFR2, transferrin receptor 2, 7036

N. diseases: 92; N. variants: 50
Disease: Hemochromatosis ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0018995
Disease: Hemochromatosis
Hemochromatosis 		0.400 GeneticVariation disease BEFREE Mutations in the Hjv and TfR2 gene cause hemochromatosis. 16932966 2007
CUI: C0018995
Disease: Hemochromatosis
Hemochromatosis 		0.400 GeneticVariation disease BEFREE New TFR2 mutations in young Italian patients with hemochromatosis. 18245657 2008
CUI: C0018995
Disease: Hemochromatosis
Hemochromatosis 		0.400 GeneticVariation disease BEFREE Five major categories are now established: HFE-related or type1 hemochromatosis, frequently found in Caucasians, and four rarer diseases which are type 2 (A and B) hemochromatosis (juvenile hemochromatosis), type 3 hemochromatosis (transferrin receptor 2 hemochromatosis), type 4 (A and B) hemochromatosis (ferroportin disease), and a(hypo)ceruloplasminemia. 18430498 2008
CUI: C0018995
Disease: Hemochromatosis
Hemochromatosis 		0.400 GeneticVariation disease BEFREE To date, four types of hemochromatosis have been identified: HFE-related or type1 hemochromatosis, the most frequent form in Caucasians, and four rare types, named type 2 (A and B) hemochromatosis (juvenile hemochromatosis due to hemojuvelin and hepcidin mutation), type 3 hemochromatosis (related to transferrin receptor 2 mutation), and type 4 (A and B) hemochromatosis (ferroportin disease). 24321703 2014
CUI: C0018995
Disease: Hemochromatosis
Hemochromatosis 		0.400 GeneticVariation disease BEFREE The genetics of these less common forms was intensively studied between 2000 and 2004, leading to the recognition of haemojuvelin (HJV), hepcidin (HAMP), transferrin receptor 2 (TFR2) and ferroportin-related haemochromatosis, and opening the way for novel hypotheses such as those related to digenic modes of inheritance or the involvement of modifier genes. 16132052 2005
CUI: C0018995
Disease: Hemochromatosis
Hemochromatosis 		0.400 GeneticVariation disease BEFREE The hepcidin response was smaller in C282Y-homozygotes than in controls, barely detectable in the patients with iron-depleted HFE-hemochromatosis and absent in those with TFR2-hemochromatosis. 21173098 2011
CUI: C0018995
Disease: Hemochromatosis
Hemochromatosis 		0.400 GeneticVariation disease BEFREE Recently, a mutation in the gene encoding transferrin receptor-2 (exon 6, nucleotide 750 C --> G; Y250X) was detected by a PCR-restriction fragment length polymorphism (RFLP) method in Sicilians with hemochromatosis. 11551099 2001
CUI: C0018995
Disease: Hemochromatosis
Hemochromatosis 		0.400 GeneticVariation disease BEFREE The pathogenetic role of TFR2 in hemochromatosis has been recently further demonstrated through the targeted expression of the Y250X human mutation in mice, which develop sings of iron overload identical to the human disease. 12547237 2003
CUI: C0018995
Disease: Hemochromatosis
Hemochromatosis 		0.400 GeneticVariation disease BEFREE Human hemochromatosis (HC) has been associated with the common C282Y polymorphism of HFE or rare pathogenic mutations of TfR2, HJV, FPN and HAMP. 20863724 2010
CUI: C0018995
Disease: Hemochromatosis
Hemochromatosis 		0.400 GeneticVariation disease BEFREE No individual presented either the mutation at position 845 of the HFE gene or at position 750 of the TFR2 gene, associated with other types of hemochromatosis. 12064925 2003
CUI: C0018995
Disease: Hemochromatosis
Hemochromatosis 		0.400 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: C0018995
Disease: Hemochromatosis
Hemochromatosis 		0.400 GeneticVariation disease BEFREE Mutations in TfR2 result in hemochromatosis, indicating that this receptor has a unique role in iron metabolism. 15317665 2004
CUI: C0018995
Disease: Hemochromatosis
Hemochromatosis 		0.400 GeneticVariation disease BEFREE Mutations in HFE and TFR2 genes in a Spanish patient with hemochromatosis. 21770687 2011
CUI: C0018995
Disease: Hemochromatosis
Hemochromatosis 		0.400 GeneticVariation disease BEFREE We conclude that this patient represents another example of hemochromatosis due to mutations of the gene encoding transferrin receptor 2. 16424658 2006
CUI: C0018995
Disease: Hemochromatosis
Hemochromatosis 		0.400 GeneticVariation disease BEFREE The implications of this observation for the understanding of the phenotypic features of haemochromatosis due to mutation of the TFR2 gene are discussed. 15084147 2004
CUI: C0018995
Disease: Hemochromatosis
Hemochromatosis 		0.400 GeneticVariation disease LHGDN Recently a second transferrin receptor (TFR2) was discovered, and a previously uncharacterized type of hemochromatosis (HH type 3) was identified in humans carrying mutations in the TFR2 gene. 12134060 2002
CUI: C0018995
Disease: Hemochromatosis
Hemochromatosis 		0.400 GeneticVariation disease BEFREE Rare defects, including mutations in the transferrin receptor 2 (TFR2) gene, have also been identified in pedigrees affected with "non-HFE hemochromatosis." 16234038 2005
CUI: C0018995
Disease: Hemochromatosis
Hemochromatosis 		0.400 GeneticVariation disease BEFREE We used a standard 96-well microplate with a single PCR condition in an adaptation of the SCAIP (single-condition amplification with internal primer) method to sequence the HFE (hemochromatosis), HAMP (hepcidin antimicrobial peptide), HFE2/HJV [hemochromatosis type 2 (juvenile)], SLC40A1 (ferroportin), and TFR2 (transferrin receptor 2) genes, and the 5' untranslated region of the FTL (ferritin, light polypeptide) gene. 17951290 2007
CUI: C0018995
Disease: Hemochromatosis
Hemochromatosis 		0.400 GeneticVariation disease BEFREE Transferrin receptor 2 (TfR2) plays a critical role in iron homeostasis because patients carrying disabling mutations in the TFR2 gene suffer from hemochromatosis. 15319276 2004
CUI: C0018995
Disease: Hemochromatosis
Hemochromatosis 		0.400 GeneticVariation disease BEFREE The relationship between the hemochromatosis due to transferrin receptor 2 (TFR2) mutations and hepcidin was unknown. 15486069 2005
CUI: C0018995
Disease: Hemochromatosis
Hemochromatosis 		0.400 GeneticVariation disease BEFREE The term hemochromatosis should refer to a unique clinicopathologic subset of iron-overload syndromes that currently includes the disorder related to the C282Y homozygote mutation of the hemochromatosis protein HFE (by far the most common form of hemochromatosis) and the rare disorders more recently attributed to the loss of transferrin receptor 2, HAMP (hepcidin antimicrobial peptide), or hemojuvelin or to certain ferroportin mutations. 17886335 2007
CUI: C0018995
Disease: Hemochromatosis
Hemochromatosis 		0.400 GeneticVariation disease LHGDN The relationship between the hemochromatosis due to transferrin receptor 2 (TFR2) mutations and hepcidin was unknown. 15486069 2005
CUI: C0018995
Disease: Hemochromatosis
Hemochromatosis 		0.400 GeneticVariation disease BEFREE This report adds two more type 3 hereditary hemochromatosis cases which suggest that TFR2 mutations could be more frequently involved in non-HFE hemochromatosis than has been actually thought. 16923517 2006
CUI: C0018995
Disease: Hemochromatosis
Hemochromatosis 		0.400 GeneticVariation disease BEFREE A mutation of the transferrin receptor-2 gene (TFR2; exon 6, nt 750 C --> G, replaces TAC with stop signal TAG; Y250X) on Ch7q22 was recently identified in two Sicilian families with HFE mutation-negative hemochromatosis. 11358388 2001
CUI: C0018995
Disease: Hemochromatosis
Hemochromatosis 		0.400 GeneticVariation disease BEFREE Thus, TFR2 mutations are not responsible for hemochromatosis in non-C282Y homozygous patients of our area. 11358390 2001