HEMOCHROMATOSIS, TYPE 3
|
1.000 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
A Rare Case Of a 2-year-old Boy With Alagille Syndrome and Type 3 Hereditary Hemochromatosis With TFR2 Mutation.
|
29985876 |
2019 |
HEMOCHROMATOSIS, TYPE 3
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
HFE3 is caused by mutations in transferrin receptor 2 (TFR2) gene that codes for two main isoforms (Tfr2<i>α</i> and Tfr2<i>β</i>).
|
28540293 |
2017 |
HEMOCHROMATOSIS, TYPE 3
|
1.000 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Advantages and pitfalls of an extended gene panel for investigating complex neurometabolic phenotypes.
|
27604308 |
2016 |
HEMOCHROMATOSIS, TYPE 3
|
1.000 |
GermlineCausalMutation
|
disease |
ORPHANET |
Functional consequences of transferrin receptor-2 mutations causing hereditary hemochromatosis type 3.
|
26029709 |
2015 |
HEMOCHROMATOSIS, TYPE 3
|
1.000 |
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 3
|
1.000 |
Biomarker
|
disease |
MGD |
Transferrin receptor 2 (TFR2) is a transmembrane protein that is mutated in hemochromatosis type 3.
|
20179178 |
2010 |
HEMOCHROMATOSIS, TYPE 3
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Expression of hepcidin and other iron-related genes in type 3 hemochromatosis due to a novel mutation in transferrin receptor-2.
|
19144662 |
2009 |
HEMOCHROMATOSIS, TYPE 3
|
1.000 |
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 3
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
A novel mutation of transferrin receptor 2 in a Taiwanese woman with type 3 hemochromatosis.
|
17562347 |
2007 |
HEMOCHROMATOSIS, TYPE 3
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
By contrast, the frequencies of the common H63D mutation did not differ, and the allele frequencies of the less frequently observed sequence deviations as substitution S65C in the HFE gene and mutation Y250X in the TFR2 gene underlying hemochromatosis type 3 (HFE3) were < 0.02 both in PCT patients and controls.
|
17298224 |
2006 |
HEMOCHROMATOSIS, TYPE 3
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
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 |
HEMOCHROMATOSIS, TYPE 3
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Five TFR2 homozygous mutations have been documented in HFE3 patients: a nonsense mutation (Y250X); a C insertion that causes a frameshift and a premature stop codon (E60X); a missense mutation (M172K); a 12 basepair deletion in exon 16, that causes 4 aminoacid loss (AVAQ 594-597del) in the extracellular domain of TFR2; a missense mutation in exon 17 (Q690P).
|
12547237 |
2003 |
HEMOCHROMATOSIS, TYPE 3
|
1.000 |
Biomarker
|
disease |
MGD |
Targeted mutagenesis of the murine transferrin receptor-2 gene produces hemochromatosis.
|
12134060 |
2002 |
HEMOCHROMATOSIS, TYPE 3
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Haemochromatosis type 3 is linked to a locus on 7q22 and is due to mutations in the transferrin receptor 2.
|
12401307 |
2002 |
HEMOCHROMATOSIS, TYPE 3
|
1.000 |
Biomarker
|
disease |
BEFREE |
Our data support the role of the transferrin receptor 2 gene in hemochromatosis type 3 as well as its critical involvement in the maintenance of iron homeostasis in humans.
|
11984516 |
2002 |
HEMOCHROMATOSIS, TYPE 3
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Homozygous defects in a recently identified gene encoding transferrin receptor 2 lead to iron overload (hemochromatosis type 3) with symptoms similar to those seen in patients with HFE-associated hereditary hemochromatosis (hemochromatosis type 1).
|
12382200 |
2002 |
HEMOCHROMATOSIS, TYPE 3
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
Transferrin receptor 2 (TfR2) and HFE mutational analysis in non-C282Y iron overload: identification of a novel TfR2 mutation.
|
12130528 |
2002 |
HEMOCHROMATOSIS, TYPE 3
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
Patients with HFE3 have transferrin receptor 2 (TFR2) inactivated by a homozygous nonsense mutation (Y250X).
|
11313241 |
2001 |
HEMOCHROMATOSIS, TYPE 3
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Patients with HFE3 have transferrin receptor 2 (TFR2) inactivated by a homozygous nonsense mutation (Y250X).
|
11313241 |
2001 |
HEMOCHROMATOSIS, TYPE 3
|
1.000 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Patients with HFE3 have transferrin receptor 2 (TFR2) inactivated by a homozygous nonsense mutation (Y250X).
|
11313241 |
2001 |
HEMOCHROMATOSIS, TYPE 3
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
|
|
|
HEMOCHROMATOSIS, TYPE 3
|
1.000 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
|
|
|
HEMOCHROMATOSIS, TYPE 3
|
1.000 |
Biomarker
|
disease |
CTD_human |
|
|
|
HEMOCHROMATOSIS, TYPE 3
|
1.000 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
|
|
|
Hereditary hemochromatosis
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
One form of HH (type III) results from mutations in transferrin receptor-2 (TfR2).
|
29388418 |
2018 |