All individuals with variants in gene HFE

44 entries on 1 page. Showing entries 1 - 44.
Legend   How to query  

AscendingIndividual ID     

ID_report     

Reference     

Remarks     

Gender     

Consanguinity     

Country     

Population     

Age at death     

VIP     

Data_av     

Treatment     

Disease     

Phenotype details     

Variants     

Panel size     

Owner     
00019844 22890139-Fam1 PubMed: Del-Castillo-Rueda 2012, Journal: Del-Castillo-Rueda 2012 - F - Spain - - 0 - - HFE - 1 1 Mayka Sanchez
00019851 21770687-Pat PubMed: Del-Castillo-Rueda 2011 - M - Portugal - - 0 - - HFE-1 Iron overload due to genetics and environmental factors (alcoholic habits) 1 1 Mayka Sanchez
00024118 - PubMed: Lee and Barton 2006 - M - United Kingdom (Great Britain) White of Scottish descent - 0 - 34 units of 500ml at weekly phlebotomy (reported as 6.8g Fe removed) HFE-3 hemochromatosis, severe iron overload; see paper 1 1 Ann Walker
00024942 - PubMed: Island 2009 - M - France - - 0 - - HFE-1 elevated hepatic iron (0012465) HII 12.2 umol Fe/g dry weight/year; venesection 85g Fe 1 1 Chana Unger
00024943 - PubMed: Matthes 2004 - M - Portugal - - 0 - - HFE-1 hemochromatosis, juvenile; insulin-dependent diabetes mellitus; heart failure; hypogonadotropic hypogonadism; skin hyperpigmentation; elevated hepatic iron (0012465) venesection 12g Fe over 11months 1 1 Chana Unger
00024946 - PubMed: Biasiotto 2004 found in 3 individuals (incl. father/son) - - - - - 0 - - ? see paper; variable 2 3 Ann Walker
00024948 - PubMed: Merryweather-Clarke 2003 digenic inheritance; 2-generation family, patient and unaffected carrier mother M - - - - 0 - - HFE-1 hemochromatosis, juvenile; 27y-congestive heart failure, hypogodanotropic hypogonadism, diabetes mellitus, fatigue and skin pigmentation, liver biopsy showed fibrosis; elevated hepatic iron (0012465) hepatic iron index 17.8 umol Fe/g dry wt/y, venesection removed 27g Fe over 4y 1 1 Chana Unger
00024949 - PubMed: Merryweather-Clarke 2003 unaffected carrier mother HFE p.(H63D) M - - - - 0 - - HFE-1 hemochromatosis, juvenile; elevated hepatic iron (0012465) normal serum iron biochemistry. 1 1 Chana Unger
00024951 - PubMed: Jacolot 2004 - - - - - - 0 - - HFE-1 elevated hepatic iron (0012465) venesection 14.6g Fe 1 1 Chana Unger
00024953 - PubMed: Merryweather-Clarke 2003 2-generation family, heterozygous carrier father HFE:C282Y heterozygote, sister HFE:C282Y homozygote - - - - - 0 - - HFE-1 hemochromatosis; elevated hepatic iron (0012465) venesection 6g Fe 1 1 Chana Unger
00024959 - PubMed: Camaschella 2000, Journal: Camaschella 2000, PubMed: Roetto 2001 2-generation family, 3 affecteds (2F), unaffected heterozygous carrier parents; PatII3 homozygous for HFE:H63D M ? Italy Italina, Sicily - 0 - - HFE-3 see paper; increased transferrin saturation and serum ferritin and most had disease-related clinical complications; affected siblings had skin pigmentation and abnormal liver function tests; PatII3 had liver cirrhosis, diabetes and arthritis 1 3 Johan den Dunnen
00024962 - PubMed: Hofmann 2002 2-generation family, mother HFE:C282Y homozygous sibs with discordant phenotype F ? United States - - 0 - - ? see paper 1 1 Ann Walker
00024963 - PubMed: Hofmann 2002 2-generation family, Sib1 HFE:C282Y homozygous sibs with discordant phenotype M ? United States - - 0 - - HFE-1 see paper 1 1 Ann Walker
00024964 - PubMed: Hofmann 2002 2-generation family, Sib2 HFE:C282Y homozygous sibs with discordant phenotype M ? United States - - 0 - - HFE-1 see paper 1 1 Ann Walker
00024965 - PubMed: Hofmann 2002 2-generation family, Sib3+4 HFE:C282Y homozygous sibs with discordant phenotype - ? United States - - 0 - - ? see paper 1 2 Ann Walker
00024967 - PubMed: Mattman 2002, Journal: Mattman 2002 4-generation family, 3 affecteds (2F, M), index has 2 affected sisters (1HFE:H63D heterozygote) - yes Portugal Portuguese - 0 - - HFE-1 hemochromatosis, juvenile; fatigue, hypogonadotropic hypogonadism, hyperpigmentation, mild elevation liver transaminases, idiopathic thrombocytopenic purpura, mild normocytic anemia and lymphopenia; elevated hepatic iron (0012465) phlebotomy >12g Fe over 4y 1 3 Dan Yin
00024968 - PubMed: Mattman 2002 89 iron overload patients, non-HFE:C282Y - ? Canada - - 0 - - HFE-1 see paper 1 89 Johan den Dunnen
00024980 - PubMed: Pietrangelo 2005 4-generation family, 3 affecteds (F, 2M); 1 M no HFE vars - yes Italy - - 0 - - HFE-1 see paper, variable; severe endocrinopathy and cardiomyopathy 2 3 Johan den Dunnen
00024982 - PubMed: Biasiotto 2003 - - ? Italy - - 0 - - HFE-1 altered iron status 1 1 Johan den Dunnen
00024983 - PubMed: Biasiotto 2003 - - ? Italy - - 0 - - HFE-1 altered iron status 1 1 Johan den Dunnen
00024987 - PubMed: Biasiotto 2003 family, 8 affecteds - ? Italy - - 0 - - HFE-1 altered iron status 2 8 Johan den Dunnen
00024988 - PubMed: Biasiotto 2003 - - ? Italy - - 0 - - HFE-1 altered iron status 1 1 Johan den Dunnen
00088175 - - - - - - - - 0 - - HFE-1 - 1 1 Gerard C.P. Schaafsma
00104898 22890139-Fam2Pat1 PubMed: Del-Castillo-Rueda 2012, Journal: Del-Castillo-Rueda 2012 2-generation family, affected father and son M no Spain - - 0 - - HFE see paper; ... 1 5 Johan den Dunnen
00104899 22890139-Fam2Pat1f PubMed: Del-Castillo-Rueda 2012, Journal: Del-Castillo-Rueda 2012 father of Pat1 M - Spain - - 0 - - HFE hemochromatosis, treated with phlebotomy 1 1 Johan den Dunnen
00104900 22890139-Fam2Pat1m PubMed: Del-Castillo-Rueda 2012, Journal: Del-Castillo-Rueda 2012 mother of Pat1 F - Spain - - 0 - - Healthy/Control - 1 1 Johan den Dunnen
00104901 22890139-Fam2Pat1s2 PubMed: Del-Castillo-Rueda 2012, Journal: Del-Castillo-Rueda 2012 sister of Pat1 F - Spain - - 0 - - Healthy/Control - 1 1 Johan den Dunnen
00104904 22890139-Fam4Pat1 PubMed: Del-Castillo-Rueda 2012, Journal: Del-Castillo-Rueda 2012 - M - Spain - - 0 - - HFE classic hemochromatosis; MRI revealed iron overload phenotype, severe liver iron overload (230 μmol Fe/g); received phlebotomy for 2y (6.07g of Fe removed), no follow-up MR 3 1 Johan den Dunnen
00104905 22890139-Fam5Pat1 PubMed: Del-Castillo-Rueda 2012, Journal: Del-Castillo-Rueda 2012 - M - Spain - - 0 - - HFE classic hemochromatosis; metabolic syndrome, hyperferritinemia; MRI severe iron overload phenotype, iron liver deposits (160 μmol Fe/g), not in spleen or pancreas; phlebotomy for 2y (2 g of Fe) no follow-up MRI; abdominal ultrasound, revealed steatosis 1 1 Johan den Dunnen
00104906 23018356-Pat PubMed: Zamani 2012 - - - Iran - - 0 - - HFE - 1 4 Johan den Dunnen
00104908 15020277-Fam1 PubMed: Piperno 2004 2-generation family, 1 affected, unaffected heterozygous carrier parents M - Italy Sicily - 0 - - HFE see paper; ... 1 1 Johan den Dunnen
00104909 15020277-Fam2 PubMed: Piperno 2004 2-generation family, 1 affected, unaffected heterozygous carrier parents M - Italy Sicily - 0 - - HFE see paper 1 1 Johan den Dunnen
00104930 23600741-Pat1 PubMed: Bardou-Jacquet 2013, Journal: Bardou-Jacquet 2013 - F yes France - - 0 - - HFE see paper; ... 1 1 Johan den Dunnen
00104931 23600741-Pat2 PubMed: Bardou-Jacquet 2013, Journal: Bardou-Jacquet 2013 - M - France - - 0 - - HFE see paper; ... 1 1 Johan den Dunnen
00104936 23600741-Pat7 PubMed: Bardou-Jacquet 2013, Journal: Bardou-Jacquet 2013 - F - France - - 0 - - HFE see paper; ... 1 1 Johan den Dunnen
00207901 242 PubMed: Vadgama 2019, Journal: Vadgama 2019 242: proband diagnosed with ALS 243: unaffected MZ twin M - - - - 0 - - ALS - 1 1 Nirmal Vadgama
00271352 - - - M - - - - 0 - - ? Polyneuropathy (HP:0001271); Myopathy (HP:0003198); EMG: neuropathic changes (HP:0003445); EMG: myopathic abnormalities (HP:0003458) 1 1 Andreas Laner
00294043 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - 0 - - ? - 1 1 Mohammed Faruq
00294044 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - 0 - - ? - 1 60 Mohammed Faruq
00294045 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - 0 - - ? - 1 10 Mohammed Faruq
00305073 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - 0 - - ? - 1 1 Mohammed Faruq
00308709 - PubMed: Le 2019 analysis 305 unrelated individuals - - Viet Nam - - 0 - - Healthy/Control - 1 1 Global Variome, with Curator vacancy
00308710 - PubMed: Le 2019 analysis 305 unrelated individuals - - Viet Nam - - 0 - - Healthy/Control - 1 1 Global Variome, with Curator vacancy
00320310 WV1 PubMed: Isbister 2020 - - - Australia - - 0 - - CM survived sudden cardiac arrest 1 1 Johan den Dunnen
Legend   How to query