|
HEMOCHROMATOSIS, TYPE 1
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Hereditary hemochromatosis (HH) is a group of inherited iron-overload disorders associated with pathogenic defects in the genes encoding hemochromatosis (HFE), hemojuvelin (HJV/HFE2), hepcidin (HAMP), transferrin receptor 2 (TfR2), and ferroportin (FPN1/SLC40A1) proteins, and the clinical features are well described.
|
27896572 |
2017 |
|
HEMOCHROMATOSIS, TYPE 1
|
0.100 |
Biomarker
|
disease |
BEFREE |
Mutations in hepcidin and any genes that regulate the biology of hepcidin, including hemochromatosis genes (HFE), Hemojuvelin (HJV), transferring receptor 2 (TFR2) and FPN, result in hemochromatosis.
|
27031690 |
2016 |
|
HEMOCHROMATOSIS, TYPE 1
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
SNPs at ARNTL, TF, and TFR2 affect iron markers in HFE C282Y homozygotes at risk for hemochromatosis.
|
25352340 |
2014 |
|
HEMOCHROMATOSIS, TYPE 1
|
0.100 |
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 |
|
HEMOCHROMATOSIS, TYPE 1
|
0.100 |
Biomarker
|
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 |
|
HEMOCHROMATOSIS, TYPE 1
|
0.100 |
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 |
|
HEMOCHROMATOSIS, TYPE 1
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Mutations in HFE and TFR2 genes in a Spanish patient with hemochromatosis.
|
21770687 |
2011 |
|
HEMOCHROMATOSIS, TYPE 1
|
0.100 |
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 |
|
HEMOCHROMATOSIS, TYPE 1
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
New TFR2 mutations in young Italian patients with hemochromatosis.
|
18245657 |
2008 |
|
HEMOCHROMATOSIS, TYPE 1
|
0.100 |
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 |
|
HEMOCHROMATOSIS, TYPE 1
|
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 |
|
HEMOCHROMATOSIS, TYPE 1
|
0.100 |
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 |
|
HEMOCHROMATOSIS, TYPE 1
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Mutations in the Hjv and TfR2 gene cause hemochromatosis.
|
16932966 |
2007 |
|
HEMOCHROMATOSIS, TYPE 1
|
0.100 |
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 |
|
HEMOCHROMATOSIS, TYPE 1
|
0.100 |
Biomarker
|
disease |
BEFREE |
At least three of these entities (HFE hemochromatosis, juvenile hemochromatosis and transferrin receptor 2 hemochromatosis) involve systemic hepcidin deficiency as a key pathogenetic factor.
|
17124037 |
2006 |
|
HEMOCHROMATOSIS, TYPE 1
|
0.100 |
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 |
|
HEMOCHROMATOSIS, TYPE 1
|
0.100 |
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 |
|
HEMOCHROMATOSIS, TYPE 1
|
0.100 |
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 |
|
HEMOCHROMATOSIS, TYPE 1
|
0.100 |
Biomarker
|
disease |
BEFREE |
This suggests that the TfR2 gene is involved in hemochromatosis in Japanese patients.
|
15749661 |
2005 |
|
HEMOCHROMATOSIS, TYPE 1
|
0.100 |
Biomarker
|
disease |
BEFREE |
Using quantitative RT-PCR, the iron-dependent hepatic expression patterns of HAMP, HJV, and TFR2 were evaluated in human and murine HFE-related hemochromatosis.
|
16103673 |
2005 |
|
HEMOCHROMATOSIS, TYPE 1
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
The relationship between the hemochromatosis due to transferrin receptor 2 (TFR2) mutations and hepcidin was unknown.
|
15486069 |
2005 |
|
HEMOCHROMATOSIS, TYPE 1
|
0.100 |
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 |
|
HEMOCHROMATOSIS, TYPE 1
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Mutations in TfR2 result in hemochromatosis, indicating that this receptor has a unique role in iron metabolism.
|
15317665 |
2004 |
|
HEMOCHROMATOSIS, TYPE 1
|
0.100 |
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 |
|
HEMOCHROMATOSIS, TYPE 1
|
0.100 |
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 |