Condition: HEMOCHROMATOSIS, TYPE 1


rs111033558 in HFE gene and HEMOCHROMATOSIS, TYPE 1 PMID 9620340 1998 Porphyria cutanea tarda, hepatitis C, and HFE gene mutations in North America.

PMID 10094552 1999 A retrospective anonymous pilot study in screening newborns for HFE mutations in Scandinavian populations.

PMID 10194428 1999 HFE mutations analysis in 711 hemochromatosis probands: evidence for S65C implication in mild form of hemochromatosis.

PMID 10401000 1999 Spectrum of mutations in the HFE gene implicated in haemochromatosis and porphyria.

PMID 14633868 2003 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.

PMID 8696333 1996 A novel MHC class I-like gene is mutated in patients with hereditary haemochromatosis.

PMID 15046077 2004 Gene symbol: HFE. Disease: Haemochromatosis.

PMID 16880462 2006 Screening for hemochromatosis: recommendation statement.

PMID 9024376 1997 Increased frequency of the haemochromatosis Cys282Tyr mutation in sporadic porphyria cutanea tarda.

PMID 10575540 1999 Two novel missense mutations of the HFE gene (I105T and G93R) and identification of the S65C mutation in Alabama hemochromatosis probands.

PMID 12737937 2004 Phenotypic expression of the C282Y/Q283P compound heterozygosity in HFE and molecular modeling of the Q283P mutation effect.

PMID 18157833 2008 An unusual case of hemochromatosis due to a new compound heterozygosity in HFE (p.[Gly43Asp;His63Asp]+[Cys282Tyr]): structural implications with respect to binding with transferrin receptor 1.

PMID 15965644 2005 The Q283P amino-acid change in HFE leads to structural and functional consequences similar to those described for the mutated 282Y HFE protein.

PMID 12584229 2003 Heterozygous recipient and donor HFE mutations associated with a hereditary haemochromatosis phenotype after liver transplantation.

PMID 9106528 1997 Mutation analysis of the HLA-H gene in Italian hemochromatosis patients.

PMID 11423500 2001 Role of hemochromatosis C282Y and H63D mutations in HFE gene in development of type 2 diabetes and diabetic nephropathy.

PMID 12542741 2002 Comprehensive hereditary hemochromatosis genotyping.

PMID 11446670 2001 Idiopathic hemochromatosis with the mutation of Ala176Val heterozygous for HFE gene.

rs1800730 in HFE;LOC108783645 gene and HEMOCHROMATOSIS, TYPE 1 PMID 16880462 2006 Screening for hemochromatosis: recommendation statement.

PMID 10575540 1999 Two novel missense mutations of the HFE gene (I105T and G93R) and identification of the S65C mutation in Alabama hemochromatosis probands.

PMID 12737937 2004 Phenotypic expression of the C282Y/Q283P compound heterozygosity in HFE and molecular modeling of the Q283P mutation effect.

PMID 9024376 1997 Increased frequency of the haemochromatosis Cys282Tyr mutation in sporadic porphyria cutanea tarda.

PMID 15046077 2004 Gene symbol: HFE. Disease: Haemochromatosis.

PMID 9620340 1998 Porphyria cutanea tarda, hepatitis C, and HFE gene mutations in North America.

PMID 10194428 1999 HFE mutations analysis in 711 hemochromatosis probands: evidence for S65C implication in mild form of hemochromatosis.

PMID 10401000 1999 Spectrum of mutations in the HFE gene implicated in haemochromatosis and porphyria.

PMID 9106528 1997 Mutation analysis of the HLA-H gene in Italian hemochromatosis patients.

PMID 10094552 1999 A retrospective anonymous pilot study in screening newborns for HFE mutations in Scandinavian populations.

PMID 8696333 1996 A novel MHC class I-like gene is mutated in patients with hereditary haemochromatosis.

PMID 14633868 2003 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.

PMID 12584229 2003 Heterozygous recipient and donor HFE mutations associated with a hereditary haemochromatosis phenotype after liver transplantation.

PMID 11446670 2001 Idiopathic hemochromatosis with the mutation of Ala176Val heterozygous for HFE gene.

PMID 11423500 2001 Role of hemochromatosis C282Y and H63D mutations in HFE gene in development of type 2 diabetes and diabetic nephropathy.

PMID 18157833 2008 An unusual case of hemochromatosis due to a new compound heterozygosity in HFE (p.[Gly43Asp;His63Asp]+[Cys282Tyr]): structural implications with respect to binding with transferrin receptor 1.

PMID 12542741 2002 Comprehensive hereditary hemochromatosis genotyping.

PMID 15965644 2005 The Q283P amino-acid change in HFE leads to structural and functional consequences similar to those described for the mutated 282Y HFE protein.

PMID 10930379 2000 Two novel nonsense mutations of HFE gene in five unrelated italian patients with hemochromatosis.

rs111033563 in LOC108783645;HFE gene and HEMOCHROMATOSIS, TYPE 1 PMID 10194428 1999 HFE mutations analysis in 711 hemochromatosis probands: evidence for S65C implication in mild form of hemochromatosis.

PMID 10094552 1999 A retrospective anonymous pilot study in screening newborns for HFE mutations in Scandinavian populations.

PMID 9620340 1998 Porphyria cutanea tarda, hepatitis C, and HFE gene mutations in North America.

PMID 11446670 2001 Idiopathic hemochromatosis with the mutation of Ala176Val heterozygous for HFE gene.

PMID 15046077 2004 Gene symbol: HFE. Disease: Haemochromatosis.

PMID 9106528 1997 Mutation analysis of the HLA-H gene in Italian hemochromatosis patients.

PMID 18157833 2008 An unusual case of hemochromatosis due to a new compound heterozygosity in HFE (p.[Gly43Asp;His63Asp]+[Cys282Tyr]): structural implications with respect to binding with transferrin receptor 1.

PMID 9024376 1997 Increased frequency of the haemochromatosis Cys282Tyr mutation in sporadic porphyria cutanea tarda.

PMID 8696333 1996 A novel MHC class I-like gene is mutated in patients with hereditary haemochromatosis.

PMID 12737937 2004 Phenotypic expression of the C282Y/Q283P compound heterozygosity in HFE and molecular modeling of the Q283P mutation effect.

PMID 14633868 2003 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.

PMID 10575540 1999 Two novel missense mutations of the HFE gene (I105T and G93R) and identification of the S65C mutation in Alabama hemochromatosis probands.

PMID 15965644 2005 Combined, our results indicate that the Q283P mutation leads to structural and functional consequences similar to those described for the main hereditary hemochromatosis mutation.

PMID 10401000 1999 Spectrum of mutations in the HFE gene implicated in haemochromatosis and porphyria.

PMID 16880462 2006 Screening for hemochromatosis: recommendation statement.

PMID 12542741 2002 Comprehensive hereditary hemochromatosis genotyping.

PMID 12584229 2003 Heterozygous recipient and donor HFE mutations associated with a hereditary haemochromatosis phenotype after liver transplantation.

PMID 11423500 2001 Role of hemochromatosis C282Y and H63D mutations in HFE gene in development of type 2 diabetes and diabetic nephropathy.

PMID 12542741 2002 Using polymerase chain reaction sequence-specific primer (PCR-SSP) technology, we have developed an HH diagnosis assay capable of detecting 19 non-synonymous HFE mutations (including a previously unreported mutation, V295A) and several TFR2, SLC11A3 and H ferritin alleles implicated in HH.

PMID 15965644 2005 The Q283P amino-acid change in HFE leads to structural and functional consequences similar to those described for the mutated 282Y HFE protein.

PMID 10930379 2000 Two novel nonsense mutations of HFE gene in five unrelated italian patients with hemochromatosis.

PMID 14729817 2004 The 16189 variant of mitochondrial DNA occurs more frequently in C282Y homozygotes with haemochromatosis than those without iron loading.

PMID 8943161 1996 Clinical and biochemical abnormalities in people heterozygous for hemochromatosis.

PMID 21243428 2011 Effect of HFE variants on sphingolipid expression by SH-SY5Y human neuroblastoma cells.

PMID 19176287 2009 Heme carrier protein 1 (HCP1) genetic variants in the Hemochromatosis and Iron Overload Screening (HEIRS) Study participants.

PMID 22531912 2012 Loss of central and peripheral CD8+ T-cell tolerance to HFE in mouse models of human familial hemochromatosis.

PMID 15858186 2005 Hemochromatosis and iron-overload screening in a racially diverse population.

PMID 11812557 2002 Penetrance of 845G--> A (C282Y) HFE hereditary haemochromatosis mutation in the USA.

PMID 23178241 2013 These results suggest that it may be useful to test for both HFE H63D and C282Y polymorphisms in patients with iron overload, as opposed to just genotyping for the C282Y SNP, which is customary in some healthcare centers.

PMID 19554541 2009 HFE C282Y/H63D compound heterozygotes are at low risk of hemochromatosis-related morbidity.

PMID 18199861 2008 Iron-overload-related disease in HFE hereditary hemochromatosis.

PMID 11874997 2002 A population-based study of the biochemical and clinical expression of the H63D hemochromatosis mutation.

PMID 25767899 2015 Unusual retinopathy associated with hemochromatosis.

PMID 10381492 1999 The C282Y mutation causing hereditary hemochromatosis does not produce a null allele.

PMID 12436244 2002 Hereditary haemochromatosis: only 1% of adult HFEC282Y homozygotes in South Wales have a clinical diagnosis of iron overload.

PMID 9585606 1998 The hemochromatosis 845 G-->A and 187 C-->G mutations: prevalence in non-Caucasian populations.

PMID 9341868 1997 A candidate gene for hemochromatosis: frequency of the C282Y and H63D mutations.

PMID 9321765 1997 Homozygosity for the predominant Cys282Tyr mutation and absence of disease expression in hereditary haemochromatosis.

PMID 9356458 1997 Hereditary hemochromatosis: effects of C282Y and H63D mutations on association with beta2-microglobulin, intracellular processing, and cell surface expression of the HFE protein in COS-7 cells.

PMID 19159930 2009 A cohort of 6,020 men aged 30-53 years was screened for HFE C282Y, H63D, and S65C variants by restriction fragment length polymorphism analysis.

PMID 22909823 2012 G1691A factor V and G20210A FII mutations, acute ischemic stroke of unknown cause, and patent foramen ovale.

PMID 9569177 1998 Geographic distribution of the 20210 G to A prothrombin variant.

PMID 22023246 2012 Frequency of triple mutations involving factor V, prothrombin, and methylenetetrahydrofolate reductase genes among patients referred for molecular thrombophilia workup in a tertiary care center in Lebanon.

PMID 10406905 1999 Homozygotes for prothrombin gene 20210 A allele in a thrombophilic family without clinical manifestations of venous thromboembolism.

PMID 24619398 2014 Prothrombin G20210A mutation is associated with young-onset stroke: the genetics of early-onset stroke study and meta-analysis.

PMID 19159930 2009 A cohort of 6,020 men aged 30-53 years was screened for HFE C282Y, H63D, and S65C variants by restriction fragment length polymorphism analysis.

PMID 25528068 2015 Prothrombin G20210A mutation is associated with recurrent pregnancy loss: a systematic review and meta-analysis update.

PMID 18199861 2008 Most persons who are homozygous for C282Y, the HFE allele most commonly asssociated with hereditary hemochromatosis, have elevated levels of serum ferritin and transferrin saturation.

PMID 9531249 1998 Interaction of coagulation defects and cardiovascular risk factors: increased risk of myocardial infarction associated with factor V Leiden or prothrombin 20210A.

PMID 9162021 1997 The hemochromatosis founder mutation in HLA-H disrupts beta2-microglobulin interaction and cell surface expression.

PMID 8916933 1996 A common genetic variation in the 3'-untranslated region of the prothrombin gene is associated with elevated plasma prothrombin levels and an increase in venous thrombosis.

PMID 20723024 2010 Cytoplasmic stabilities of 3'UTR-polymorphic prothrombin mRNAs.

PMID 10477778 1999 The risk of recurrent deep venous thrombosis among heterozygous carriers of both factor V Leiden and the G20210A prothrombin mutation.

PMID 11380448 2001 The risk of recurrent venous thromboembolism among heterozygous carriers of the G20210A prothrombin gene mutation.

PMID 9869612 1999 Frequent factor II G20210A mutation in idiopathic portal vein thrombosis.

PMID 9694698 1998 A single genetic origin for the common prothrombotic G20210A polymorphism in the prothrombin gene.

PMID 21452290 2011 Diagnosis and management of hemochromatosis: 2011 practice guideline by the American Association for the Study of Liver Diseases.

PMID 9292507 1997 A common prothrombin variant (20210 G to A) increases the risk of myocardial infarction in young women.

PMID 10027711 1999 The 20210 G-->A mutation in the 3'-untranslated region of the prothrombin gene and the risk for arterial thrombotic disease.

PMID 11583312 2001 Combined effect of factor V Leiden and prothrombin 20210A on the risk of venous thromboembolism--pooled analysis of 8 case-control studies including 2310 cases and 3204 controls. Study Group for Pooled-Analysis in Venous Thromboembolism.

PMID 26365338 2015 Given the higher rate of HH diagnosis than in prior studies, the high penetrance of iron overload, and the frequency of at-risk genotypes, in addition to other suggested actionable adult-onset genetic conditions, opportunistic screening should be considered for p.[Cys282Tyr];[Cys282Tyr] individuals with existing genomic data.

PMID 27124787 2016 The College of American Pathologists offers blinded proficiency testing (PT) for laboratories performing HFE genetic tests for hereditary hemochromatosis (common C282Y and H63D variants).

PMID 19554541 2009 HFE C282Y/H63D compound heterozygotes are at low risk of hemochromatosis-related morbidity.

PMID 22021457 2011 Prothrombin 20210G>A genotype and C-reactive protein level.

PMID 10348711 1999 Simultaneous genotyping for factor V Leiden and prothrombin G20210A variant by a multiplex PCR-SSCP assay on whole blood.

PMID 15059842 2004 The prothrombin 3'end formation signal reveals a unique architecture that is sensitive to thrombophilic gain-of-function mutations.

PMID 10575540 1999 Two novel missense mutations of the HFE gene (I105T and G93R) and identification of the S65C mutation in Alabama hemochromatosis probands.

rs3811647 in TF gene and HEMOCHROMATOSIS, TYPE 1 PMID 25457201 2015 Because these two outcomes were clearly associated with the biochemical and clinical expression of the disease, an indirect link between the rs3811647 polymorphism and the phenotypic presentation of HFE-HH is likely.