|
HEMOCHROMATOSIS, TYPE 4
|
1.000 |
Biomarker
|
disease |
BEFREE |
FPN1 dysfunction leads to the progressive accumulation of iron in reticuloendothelial cells, causing hemochromatosis type 4A (or ferroportin disease), an autosomal dominant disorder that displays large phenotypic heterogeneity.
|
31690120 |
2019 |
|
HEMOCHROMATOSIS, TYPE 4
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Mutations in the FPN1 gene, encoding a cell surface iron exporter [ferroportin (Fpn)], are responsible for hemochromatosis type 4, also known as ferroportin disease.
|
30247984 |
2019 |
|
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 |
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 |
BEFREE |
Novel gain of function mutation in the SLC40A1 gene associated with hereditary haemochromatosis type 4.
|
26059880 |
2015 |
|
HEMOCHROMATOSIS, TYPE 4
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
These findings and the iron overload phenotype of the patient suggest that the novel mutation c.386T>C (p.L129P) in the SLC40A1 gene has incomplete penetrance and causes the classical form of ferroportin disease.
|
24644245 |
2014 |
|
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 |
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 |
CLINVAR |
Ferroportin diseases: functional studies, a link between genetic and clinical phenotype.
|
23943237 |
2013 |
|
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 |
CausalMutation
|
disease |
CLINVAR |
Mild iron overload in an African American man with SLC40A1 D270V.
|
22584997 |
2012 |
|
HEMOCHROMATOSIS, TYPE 4
|
1.000 |
GeneticVariation
|
disease |
CLINVAR |
Hereditary hemochromatosis: mutations in genes involved in iron homeostasis in Brazilian patients.
|
21411349 |
2011 |
|
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 |
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 |
AlteredExpression
|
disease |
BEFREE |
In conclusion, this case report documents the recurrence of progressive liver siderosis, which recalls Ferroportin disease, associated with decreased Ferroportin-1 expression in host monocytes repopulating the donor liver.
|
18337195 |
2009 |
|
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 |
Biomarker
|
disease |
BEFREE |
SLC40A1 c.1402G-->a results in aberrant splicing, ferroportin truncation after glycine 330, and an autosomal dominant hemochromatosis phenotype.
|
18160816 |
2007 |
|
HEMOCHROMATOSIS, TYPE 4
|
1.000 |
Biomarker
|
disease |
MGD |
Ferroportin disease is caused by mutation of one allele of the iron exporter ferroportin (Fpn/IREG1/Slc40a1/MTP1).
|
17289807 |
2007 |
|
HEMOCHROMATOSIS, TYPE 4
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
We report a new mutation, Asn185Asp, in exon 6 of the ferroportin gene (FPN1) in 15 members of three successive generations of a Canadian family of Scandinavian origin with autosomal dominant hemochromatosis.
|
16111902 |
2006 |
|
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 |
Ferroportin disease represents a protean genetic condition in which the different SLC40A1 mutations appear to be responsible for phenotypic variability.
|
16351644 |
2005 |
|
HEMOCHROMATOSIS, TYPE 4
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
Ferroportin disease represents a protean genetic condition in which the different SLC40A1 mutations appear to be responsible for phenotypic variability.
|
16351644 |
2005 |
|
HEMOCHROMATOSIS, TYPE 4
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Recently, ferroportin 1 mutations leading to hemochromatosis (HFE4) have been identified.
|
15935710 |
2005 |
|
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 |