Disease #05278

Official abbreviation HFE
Name hemochromatosis (HFE)
OMIM ID -
Inheritance -
Individuals reported having this disease 40
Phenotype entries for this disease 39
Associated with 0 genes -
Associated tissues -
Disease features -
Remarks -


Individuals

40 entries on 1 page. Showing entries 1 - 40.
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00019844 22890139-Fam1 PubMed: Del-Castillo-Rueda 2012, Journal: Del-Castillo-Rueda 2012 - F - Spain - - 0 - - HFE - TFR2 HFE, SLC40A1, TFR2 3 1 Mayka Sanchez
00019846 23018356-Pat1 PubMed: Zamani 2012 - F - Iran - - 0 - - HFE - TFR2 TFR2 1 1 Mayka Sanchez
00019847 12809944-Fam PubMed: Hattori 2003 2-generation family, 3 affected sibs (F, 2M) F;M - Japan - - 0 - - HFE severe iron deposits in the hepatocytes and bile ducts, generally pigmented, none affected by diabetes mellitus, elevated serum CA19-9 TFR2 TFR2 1 3 Mayka Sanchez
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; ... HFE, TFR2 HFE, TFR2 3 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 HFE, TFR2 HFE, TFR2 2 1 Johan den Dunnen
00104903 22890139-Fam3Pat1 PubMed: Del-Castillo-Rueda 2012, Journal: Del-Castillo-Rueda 2012 2-generation family, 1 affected M - Spain - - 0 - - HFE mild hyperferritinemia, metabolic syndrome, body mass index 31, hypercholesterolemia, type 2 diabetes mellitus, hepatic steatosis; iron overload phenotype, MRI mild liver iron overload (50 μmol Fe/g); phlebotomy initiated at 450 ml of blood per month for 3 months, then every 3 months thereafter with an annual check-up (1.35 g of Fe removed) ;no laboratory values to assess response;measures to control weight, cholesterol, and glucose were prescribed TFR2 TFR2 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 HFE, TFR2 HFE, TFR2 4 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 HFE, SLC40A1, TFR2 HFE, SLC40A1 2 1 Johan den Dunnen
00104906 23018356-Pat PubMed: Zamani 2012 - - - Iran - - 0 - - HFE - HFE HFE 1 4 Johan den Dunnen
00104907 16923517-Pats PubMed: Majore 2006 2-generation family, affected sister/brother, unaffected heterozygous carrier parents F;M - Italy Italy, central (Abruzzo) - 0 - - HFE see paper; ... TFR2 TFR2 1 2 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; ... HFE, TFR2 HFE, TFR2 2 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 HFE, TFR2 HFE, TFR2 2 1 Johan den Dunnen
00104910 22981443-Pat PubMed: Majore 2013 - M - Burundi - - 0 - - HFE see paper; ... TFR2 TFR2 2 1 Johan den Dunnen
00104911 24055163-Pat PubMed: Radio 2014, Journal: Radio 2014 2-generation family, 1 affected, unaffected heterozygous carrier parents M no Italy - - 0 - - HFE severe hereditary hemochromatosis TFR2 TFR2 1 1 Johan den Dunnen
00104912 24055163-Pat PubMed: Radio 2014, Journal: Radio 2014 - - - Italy - - 0 - - HFE - TFR2 TFR2 1 1 Johan den Dunnen
00104913 24055163-Pat PubMed: Radio 2014, Journal: Radio 2014 - - - Italy - - 0 - - HFE - TFR2 TFR2 1 1 Johan den Dunnen
00104914 24055163-Pat PubMed: Radio 2014, Journal: Radio 2014 - - - Italy - - 0 - - HFE - TFR2 TFR2 1 1 Johan den Dunnen
00104915 24055163-Pat PubMed: Radio 2014, Journal: Radio 2014 - - - Italy - - 0 - - HFE - TFR2 TFR2 1 1 Johan den Dunnen
00104916 24055163-Pat PubMed: Radio 2014, Journal: Radio 2014 - - - Italy - - 0 - - HFE - TFR2 TFR2 1 1 Johan den Dunnen
00104917 24055163-Pat PubMed: Radio 2014, Journal: Radio 2014 - - - Italy - - 0 - - HFE - TFR2 TFR2 1 1 Johan den Dunnen
00104918 24055163-Pat PubMed: Radio 2014, Journal: Radio 2014 - - - Italy - - 0 - - HFE - TFR2 TFR2 1 1 Johan den Dunnen
00104919 24055163-Pat PubMed: Radio 2014, Journal: Radio 2014 - - - Italy - - 0 - - HFE - TFR2 TFR2 1 1 Johan den Dunnen
00104920 24055163-Pat PubMed: Radio 2014, Journal: Radio 2014 - - - Italy - - 0 - - HFE - TFR2 TFR2 1 1 Johan den Dunnen
00104921 24055163 PubMed: Radio 2014, Journal: Radio 2014 - - - Italy - - 0 - - HFE - TFR2 TFR2 1 1 Johan den Dunnen
00104922 24055163-Pat PubMed: Radio 2014, Journal: Radio 2014 - - - Italy - - 0 - - HFE - TFR2 TFR2 1 1 Johan den Dunnen
00104923 24055163-Pat PubMed: Radio 2014, Journal: Radio 2014 - - - Italy - - 0 - - HFE - TFR2 TFR2 1 1 Johan den Dunnen
00104924 24055163-Pat PubMed: Radio 2014, Journal: Radio 2014 - - - Italy - - 0 - - HFE - TFR2 TFR2 1 1 Johan den Dunnen
00104925 24055163-Pat PubMed: Radio 2014, Journal: Radio 2014 - - - Italy - - 0 - - HFE - TFR2 TFR2 1 1 Johan den Dunnen
00104926 24055163-Pat PubMed: Radio 2014, Journal: Radio 2014 - - - Italy - - 0 - - HFE - TFR2 TFR2 1 1 Johan den Dunnen
00104927 24055163-Pat PubMed: Radio 2014, Journal: Radio 2014 - - - Italy - - 0 - - HFE - TFR2 TFR2 1 1 Johan den Dunnen
00104928 24055163-Pat PubMed: Radio 2014, Journal: Radio 2014 - - - Italy - - 0 - - HFE - TFR2 TFR2 1 1 Johan den Dunnen
00104929 24055163-Pat PubMed: Radio 2014, Journal: Radio 2014 - - - Italy - - 0 - - HFE - TFR2 TFR2 1 1 Johan den Dunnen
00104930 23600741-Pat1 PubMed: Bardou-Jacquet 2013, Journal: Bardou-Jacquet 2013 - F yes France - - 0 - - HFE see paper; ... HFE, TFR2 HFE, TFR2 2 1 Johan den Dunnen
00104931 23600741-Pat2 PubMed: Bardou-Jacquet 2013, Journal: Bardou-Jacquet 2013 - M - France - - 0 - - HFE see paper; ... HFE, TFR2 HFE, TFR2 2 1 Johan den Dunnen
00104932 23600741-Pat3 PubMed: Bardou-Jacquet 2013, Journal: Bardou-Jacquet 2013 - - - France Africa, north - 0 - - HFE see paper; ... TFR2 TFR2 1 1 Johan den Dunnen
00104933 23600741-Pat4 PubMed: Bardou-Jacquet 2013, Journal: Bardou-Jacquet 2013 2-generation family, 1 affected, unaffected heterozygous carrier parents M - France - - 0 - - HFE see paper; ... HFE, TFR2 TFR2 2 1 Johan den Dunnen
00104934 23600741-Pat5 PubMed: Bardou-Jacquet 2013, Journal: Bardou-Jacquet 2013 - M - France - - 0 - - HFE see paper; ... HFE, TFR2 TFR2 2 1 Johan den Dunnen
00104935 23600741-Pat6 PubMed: Bardou-Jacquet 2013, Journal: Bardou-Jacquet 2013 - F - France - - 0 - - HFE see paper; arthropathy, non-HFE related haemochromatosis, elevated transferrin saturation, arthropathy; phlebotomies very well tolerated, removed 19.5 g iron HFE, SLC40A1, TFR2 SLC40A1, TFR2 3 1 Johan den Dunnen
00104936 23600741-Pat7 PubMed: Bardou-Jacquet 2013, Journal: Bardou-Jacquet 2013 - F - France - - 0 - - HFE see paper; ... HFE, TFR2 HFE, TFR2 3 1 Johan den Dunnen
00104937 17726683-Pat PubMed: Barton 2008, Journal: Barton 2008 - F - United States native American;white - 0 - - HFE see paper; ... HAMP, TFR2 HAMP, TFR2 2 1 Johan den Dunnen
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