|
Hereditary hemochromatosis
|
|
0.800 |
GeneticVariation
|
BEFREE |
These diagnoses are more common than HH among patients with elevated serum ferritin who are not C282Y homozygotes or C282Y/H63D compound heterozygotes.
|
31335359 |
2019 |
|
Hereditary hemochromatosis
|
|
0.800 |
GeneticVariation
|
BEFREE |
Three loss-of-function mutations in the hemochromatosis gene (HFE), namely, C282Y (c.845G>A), H63D (c.187C>G), and S65C (c.193A>T), account for the vast majority of HH cases.
|
30339210 |
2019 |
|
Hereditary hemochromatosis
|
|
0.800 |
GeneticVariation
|
BEFREE |
The College of American Pathologists offers blinded proficiency testing (PT) for laboratories performing HFE genetic tests for hereditary hemochromatosis (common C282Y and H63D variants).
|
27124787 |
2016 |
|
Hereditary hemochromatosis
|
|
0.800 |
GeneticVariation
|
BEFREE |
Statistically significant differences were observed for genotype distribution of C282Y (P < 0.001) and H63D (P = 0.013) between the general population and the patients diagnosed with HH.
|
27173269 |
2016 |
|
Hereditary hemochromatosis
|
|
0.800 |
CausalMutation
|
CLINVAR |
Penetrance of Hemochromatosis in HFE Genotypes Resulting in p.Cys282Tyr and p.[Cys282Tyr];[His63Asp] in the eMERGE Network.
|
26365338 |
2015 |
|
Hereditary hemochromatosis
|
|
0.800 |
GeneticVariation
|
BEFREE |
We used the eMERGE Network, a multicenter cohort with genotype data linked to electronic medical records, to estimate the diagnostic rate and clinical penetrance of HH in 98 individuals homozygous for the variant coding for HFE p.Cys282Tyr and 397 compound heterozygotes with variants resulting in p.[His63Asp];[Cys282Tyr].
|
26365338 |
2015 |
|
Hereditary hemochromatosis
|
|
0.800 |
GeneticVariation
|
BEFREE |
Diagnostic genetic testing for hereditary hemochromatosis is readily available for clinically relevant HFE variants (i.e., those that generate the C282Y, H63D and S65C HFE polymorphisms); however, genetic testing for other known causes of iron overload, including mutations affecting genes encoding hemojuvelin, transferrin receptor 2, HAMP, and ferroportin is not.
|
26142323 |
2015 |
|
Hereditary hemochromatosis
|
|
0.800 |
GeneticVariation
|
BEFREE |
The H63D and C282Y mutations are well defined in the HH etiology.
|
24395214 |
2014 |
|
Hereditary hemochromatosis
|
|
0.800 |
CausalMutation
|
CLINVAR |
Iron overload is rare in patients homozygous for the H63D mutation.
|
24729993 |
2014 |
|
Hereditary hemochromatosis
|
|
0.800 |
GeneticVariation
|
BEFREE |
Sample-to-SNP kit: a reliable, easy and fast tool for the detection of HFE p.H63D and p.C282Y variations associated to hereditary hemochromatosis.
|
22735619 |
2012 |
|
Hereditary hemochromatosis
|
|
0.800 |
GeneticVariation
|
BEFREE |
HFE gene mutations (C282Y and H63D) linked to hereditary hemochromatosis were analyzed by Fluorescence Resonance Energy Transfer (FRET) genotyping.
|
20974500 |
2012 |
|
Hereditary hemochromatosis
|
|
0.800 |
GeneticVariation
|
BEFREE |
Among the patients, 20% had genotypes related to HH--7.4% were homozygous for C282Y, 6.3% were compound heterozygous for C282Y and H63D, 5.7% were homozygous for H63D, and 0.6% was compound heterozygous for C282Y and S65C.
|
21959608 |
2011 |
|
Hereditary hemochromatosis
|
|
0.800 |
GeneticVariation
|
BEFREE |
The HFE p.C282Y in homozygosity or in heterozygosity with p.H63D was the most frequent mutation associated with HH in this sample.
|
21411349 |
2011 |
|
Hereditary hemochromatosis
|
|
0.800 |
GeneticVariation
|
BEFREE |
Hereditary hemochromatosis (HH) is an autosomal recessive disorder mainly associated with homozygosity for the C282Y and H63D mutations in the hemochromatosis (HFE) gene.
|
20196837 |
2010 |
|
Hereditary hemochromatosis
|
|
0.800 |
GeneticVariation
|
BEFREE |
Hereditary hemochromatosis has been linked with C282Y and H63D mutations of the HFE gene encoding human hemochromatosis protein.
|
20424537 |
2010 |
|
Hereditary hemochromatosis
|
|
0.800 |
GeneticVariation
|
BEFREE |
The effect of HFE mutations on protein structure were analyzed by molecular dynamics simulation and free binding energy calculations. p.C282Y in homozygosis or in heterozygosis with p.H63D were the most frequent genotypic combinations associated with HH in our sample population (present in 17 individuals, 34%).
|
20843714 |
2010 |
|
Hereditary hemochromatosis
|
|
0.800 |
GeneticVariation
|
BEFREE |
Three allelic variants of HFE gene have been correlated with hereditary hemochromatosis: C282Y is significantly associated with hereditary hemochromatosis in populations of Celtic origin, H63D and S65C are associated with milder form of iron overload.
|
19822954 |
2009 |
|
Hereditary hemochromatosis
|
|
0.800 |
GeneticVariation
|
BEFREE |
C282Y and H63D are the main mutations related to hereditary hemochromatosis; these mutations have been reported to be associated with increased risk of developing diabetes mellitus type 2 (DM2).
|
19876870 |
2009 |
|
Hereditary hemochromatosis
|
|
0.800 |
GeneticVariation
|
BEFREE |
We investigate the prevalence of C282Y, H63D and S65C mutations in 95 individuals (77 males, 18 females) bearing iron metabolism alterations to establish an early diagnosis of HH.
|
19656448 |
2009 |
|
Hereditary hemochromatosis
|
|
0.800 |
GeneticVariation
|
BEFREE |
Development of hereditary hemochromatosis is associated with the C282Y, H63D or S65C mutations in the hemochromatosis gene.
|
19681031 |
2009 |
|
Hereditary hemochromatosis
|
|
0.800 |
GeneticVariation
|
BEFREE |
Approximately one-half of Brazilian patients with hereditary hemochromatosis (HH) are neither homozygous for the C282Y mutation nor compound heterozygous for the H63D and C282Y mutations that are associated with HH in Caucasians.
|
19759876 |
2009 |
|
Hereditary hemochromatosis
|
|
0.800 |
CausalMutation
|
CLINVAR |
HFE C282Y/H63D compound heterozygotes are at low risk of hemochromatosis-related morbidity.
|
19554541 |
2009 |
|
Hereditary hemochromatosis
|
|
0.800 |
GeneticVariation
|
BEFREE |
Hereditary haemochromatosis has been linked with C282Y and H63D mutations of the HFE gene.
|
18263976 |
2008 |
|
Hereditary hemochromatosis
|
|
0.800 |
GeneticVariation
|
BEFREE |
Classical HH is associated with mutations in HFE (C282Y homozygotes or C282Y/H63D compound heterozygotes) and is almost exclusively found in populations of northern European descent.
|
19034258 |
2008 |
|
Hereditary hemochromatosis
|
|
0.800 |
CausalMutation
|
CLINVAR |
Contribution of different HFE genotypes to iron overload disease: a pooled analysis.
|
11399207 |
2008 |