|
HEMOCHROMATOSIS, TYPE 4
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
Autosomal dominant reticuloendothelial iron overload associated with a 3-base pair deletion in the ferroportin 1 gene (SLC11A3).
|
12091367 |
2002 |
|
HEMOCHROMATOSIS, TYPE 4
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Autosomal-dominant hemochromatosis is associated with a mutation in the ferroportin (SLC11A3) gene.
|
11518736 |
2001 |
|
HEMOCHROMATOSIS, TYPE 4
|
1.000 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
A mutation in SLC11A3 is associated with autosomal dominant hemochromatosis.
|
11431687 |
2001 |
|
HEMOCHROMATOSIS, TYPE 4
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
Molecular analyses of patients with hyperferritinemia and normal serum iron values reveal both L ferritin IRE and 3 new ferroportin (slc11A3) mutations.
|
12730114 |
2003 |
|
HEMOCHROMATOSIS, TYPE 4
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
Autosomal dominant reticuloendothelial iron overload (HFE type 4) due to a new missense mutation in the FERROPORTIN 1 gene (SLC11A3) in a large French-Canadian family.
|
12857562 |
2003 |
|
HEMOCHROMATOSIS, TYPE 4
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Ferroportin Disease (FD) is an autosomal dominant hereditary iron loading disorder associated with heterozygote mutations of the ferroportin-1 (<i>FPN</i>) gene.
|
29101207 |
2017 |
|
HEMOCHROMATOSIS, TYPE 4
|
1.000 |
GermlineCausalMutation
|
disease |
ORPHANET |
Hemochromatosis type 4 is a rare form of primary iron overload transmitted as an autosomal dominant trait caused by mutations in the gene encoding the iron transport protein ferroportin 1 (SLC40A1).
|
24714983 |
2014 |
|
HEMOCHROMATOSIS, TYPE 4
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Missense mutations in ferroportin1 (fpn1), an intestinal and macrophage iron exporter, have been identified between transmembrane helices 3 and 4 in the zebrafish anemia mutant weissherbst (weh(Tp85c-/-)) and in patients with type 4 hemochromatosis.
|
15902304 |
2005 |
|
HEMOCHROMATOSIS, TYPE 4
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Structure-function analysis of the human ferroportin iron exporter (SLC40A1): effect of hemochromatosis type 4 disease mutations and identification of critical residues.
|
23784628 |
2013 |
|
HEMOCHROMATOSIS, TYPE 4
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
A novel SLC40A1 mutation p.R489K segregated with iron overload in a family with clinical and histopathological signs of macrophage-type ferroportin disease.
|
19937651 |
2010 |
|
HEMOCHROMATOSIS, TYPE 4
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
Autosomal-dominant hemochromatosis is associated with a mutation in the ferroportin (SLC11A3) gene.
|
11518736 |
2001 |
|
HEMOCHROMATOSIS, TYPE 4
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
A novel mammalian iron-regulated protein involved in intracellular iron metabolism.
|
10747949 |
2000 |
|
HEMOCHROMATOSIS, TYPE 4
|
1.000 |
Biomarker
|
disease |
MGD |
Resistance of ferroportin to hepcidin binding causes exocrine pancreatic failure and fatal iron overload.
|
25100063 |
2014 |
|
HEMOCHROMATOSIS, TYPE 4
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
The proposed procedure would facilitate the wide-range molecular analysis of the SLC40A1 gene, contributing to better understanding the pathogenesis of the ferroportin disease.
|
17997113 |
2008 |
|
HEMOCHROMATOSIS, TYPE 4
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Autosomal dominant hereditary hemochromatosis associated with two novel Ferroportin 1 mutations in Spain.
|
16257244 |
2006 |
|
HEMOCHROMATOSIS, TYPE 4
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Significantly, SLC40A1 variants that have been previously associated with autosomal-dominant ferroportin disease were identified in several populations (pathogenic allele frequency 0.0004), being most prevalent among Africans.
|
26633544 |
2016 |
|
HEMOCHROMATOSIS, TYPE 4
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
Analysis of genes implicated in iron regulation in individuals presenting with primary iron overload.
|
15338274 |
2004 |
|
HEMOCHROMATOSIS, TYPE 4
|
1.000 |
GeneticVariation
|
disease |
CLINVAR |
Identification of mutations in SLC40A1 that affect ferroportin function and phenotype of human ferroportin iron overload.
|
21396368 |
2011 |
|
HEMOCHROMATOSIS, TYPE 4
|
1.000 |
GeneticVariation
|
disease |
CLINVAR |
Sex and acquired cofactors determine phenotypes of ferroportin disease.
|
21199650 |
2011 |
|
HEMOCHROMATOSIS, TYPE 4
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
The second one is haemochromatosis type 4, or HFE4 (OMIM 606069), or ferroportin disease.
|
15737888 |
2005 |