|
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 |
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 |
Novel mutation in ferroportin1 is associated with autosomal dominant hemochromatosis.
|
12091366 |
2002 |
|
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 |
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 |
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 |
CLINVAR |
Hereditary hemochromatosis: mutations in genes involved in iron homeostasis in Brazilian patients.
|
21411349 |
2011 |
|
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 |
UNIPROT |
Recent advances in understanding haemochromatosis: a transition state.
|
15466004 |
2004 |
|
HEMOCHROMATOSIS, TYPE 4
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
A valine deletion of ferroportin 1: a common mutation in hemochromastosis type 4.
|
12123233 |
2002 |
|
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 |
GENOMICS_ENGLAND |
|
|
|
|
HEMOCHROMATOSIS, TYPE 4
|
1.000 |
Biomarker
|
disease |
CTD_human |
|
|
|
|
HEMOCHROMATOSIS, TYPE 4
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
We report that a mutation in the gene encoding Solute Carrier family 11, member A3 (SLC11A3), also known as ferroportin, is associated with autosomal dominant hemochromatosis.
|
11431687 |
2001 |
|
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 |
Recently, ferroportin 1 mutations leading to hemochromatosis (HFE4) have been identified.
|
15935710 |
2005 |
|
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 |
UNIPROT |
Genetic hyperferritinaemia and reticuloendothelial iron overload associated with a three base pair deletion in the coding region of the ferroportin gene (SLC11A3).
|
12406098 |
2002 |
|
HEMOCHROMATOSIS, TYPE 4
|
1.000 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Hereditary hemochromatosis in adults without pathogenic mutations in the hemochromatosis gene.
|
10471458 |
1999 |
|
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 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
|
|
|
|
HEMOCHROMATOSIS, TYPE 4
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
A mutation in SLC11A3 is associated with autosomal dominant hemochromatosis.
|
11431687 |
2001 |
|
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 |
UNIPROT |
A novel mutation in ferroportin1 is associated with haemochromatosis in a Solomon Islands patient.
|
12865285 |
2003 |