Disease #00411

Official abbreviation HFE-1
Name hemochromatosis, type 1 (HFE-1)
OMIM ID 235200
Human Phenotype Ontology Project (HPO) HPO
Inheritance -
Individuals reported having this disease 40
Phenotype entries for this disease 40
Associated with 2 genes BMP2, HFE
Associated tissues -
Disease features -
Remarks -


Individuals

40 entries on 1 page. Showing entries 1 - 40.
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00019851 21770687-Pat PubMed: Del-Castillo-Rueda 2011 - M - Portugal - - 0 - - HFE-1 Iron overload due to genetics and environmental factors (alcoholic habits) TFR2 HFE, TFR2 2 1 Mayka Sanchez
00024942 - PubMed: Island 2009 - M - France - - 0 - - HFE-1 - HAMP, HFE HAMP, HFE 2 1 Chana Unger
00024943 - PubMed: Matthes 2004 - M - Portugal - - 0 - - HFE-1 hemochromatosis, juvenile; insulin-dependent diabetes mellitus; heart failure; hypogonadotropic hypogonadism; skin hyperpigmentation HAMP, HFE HAMP, HFE 2 1 Chana Unger
00024944 - Delbini 2008, HumGenet online - - - - - - 0 - - HFE-1 hemochromatosis, juvenile HAMP HAMP 1 1 Ann Walker
00024947 - PubMed: Lok 2009 - M - Pakistan - - 0 - - HFE-1 hemochromatosis, juvenile; 21y-hypogonadotropic hypogonadism, gynecomastia; transferrin saturation >97%; increased liver enzyme activities normalised after venesection HAMP HAMP 1 1 Chana Unger
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 HAMP, HFE HAMP, HFE 2 1 Chana Unger
00024949 - PubMed: Merryweather-Clarke 2003 unaffected carrier mother HFE p.(H63D) M - - - - 0 - - HFE-1 hemochromatosis, juvenile HAMP, HFE HAMP, HFE 2 1 Chana Unger
00024950 - PubMed: Roetto 2003 - - - - - - 0 - - HFE-1 hemochromatosis, juvenile HAMP HAMP 1 2 Chana Unger
00024951 - PubMed: Jacolot 2004 - - - - - - 0 - - HFE-1 - HAMP, HFE HAMP, HFE 2 1 Chana Unger
00024952 - PubMed: Roetto 2004 - - - Italy - - 0 - - HFE-1 hemochromatosis, juvenile HAMP HAMP 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 HAMP, HFE HAMP, HFE 2 1 Chana Unger
00024954 - PubMed: Hattori 2012 - - - Japan - - 0 - - HFE-1 hemochromatosis, juvenile HAMP HAMP 1 1 Chana Unger
00024955 - PubMed: Delatycki 2004 - - - Israel Middle Eastern - 0 - - HFE-1 hemochromatosis HAMP HAMP 1 1 Chana Unger
00024956 - PubMed: Roetto 2003 two affected sisters F - - - - 0 - - HFE-1 hemochromatosis, juvenile; severe iron overload with liver fibrosis or cirrhosis and hypogonadism HAMP HAMP 1 2 Chana Unger
00024963 - PubMed: Hofmann 2002 2-generation family, Sib1 HFE:C282Y homozygous sibs with discordant phenotype M ? United States - - 0 - - HFE-1 see paper HFE HFE 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 HFE, TFR2 HFE, TFR2 2 1 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 HFE, TFR2 HFE, TFR2 2 3 Dan Yin
00024968 - PubMed: Mattman 2002 89 iron overload patients, non-HFE:C282Y - ? Canada - - 0 - - HFE-1 see paper HFE, TFR2 HFE, TFR2 5 89 Johan den Dunnen
00024971 HC_00002 PubMed: Pelucchi 2009, Journal: Pelucchi 2009 - F ? Italy Italian, south, Campania - 0 - - HFE-1 liver biopsy showed cirrhosis and moderate steatosis; metabolic syndrome; mild left ventricular hypertrophy; hepatitis B and C viral infections, haematologic and inflammatory diseases excluded; no family history hemochromatosis TFR2 TFR2 1 1 Dan Yin
00024973 - PubMed: Biasiotto 2008 - F ? Italy - - 0 - - HFE-1 see paper TFR2 TFR2 2 1 Johan den Dunnen
00024974 - PubMed: Biasiotto 2008 affected brother/sister M ? Italy - - 0 - - HFE-1 see paper TFR2 TFR2 1 1 Johan den Dunnen
00024976 - PubMed: Koyama 2005 - - yes Japan - - 0 - - HFE-1 see paper HFE, TFR2 TFR2 1 1 Johan den Dunnen
00024977 - PubMed: Koyama 2005 - - no Japan - - 0 - - HFE-1 see paper HFE, TFR2 TFR2 2 1 Johan den Dunnen
00024978 - PubMed: Koyama 2005 - - no Japan - - 0 - - HFE-1 see paper HFE, TFR2 TFR2 1 1 Johan den Dunnen
00024979 - PubMed: Gerolami 2008 - F ? Italy - - 0 - - HFE-1 see paper HFE, TFR2 TFR2 2 1 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 HFE, TFR2 HFE, TFR2 3 3 Johan den Dunnen
00024981 - PubMed: Le Gac 2004 2-generation famil, affected brother/sister - yes France French, north - 0 - - HFE-1 see paper HFE, TFR2 TFR2 1 1 Johan den Dunnen
00024982 - PubMed: Biasiotto 2003 - - ? Italy - - 0 - - HFE-1 altered iron status HFE, TFR2 HFE, TFR2 2 1 Johan den Dunnen
00024983 - PubMed: Biasiotto 2003 - - ? Italy - - 0 - - HFE-1 altered iron status HFE, TFR2 HFE, TFR2 2 1 Johan den Dunnen
00024984 - PubMed: Biasiotto 2003 - - ? Italy - - 0 - - HFE-1 altered iron status HFE, TFR2 TFR2 1 1 Johan den Dunnen
00024985 - PubMed: Biasiotto 2003 - - ? Italy - - 0 - - HFE-1 altered iron status HFE, TFR2 TFR2 1 1 Johan den Dunnen
00024986 - PubMed: Biasiotto 2003 - - ? Italy - - 0 - - HFE-1 altered iron status HFE, TFR2 TFR2 1 1 Johan den Dunnen
00024987 - PubMed: Biasiotto 2003 family, 8 affecteds - ? Italy - - 0 - - HFE-1 altered iron status HFE, TFR2 HFE, TFR2 3 8 Johan den Dunnen
00024988 - PubMed: Biasiotto 2003 - - ? Italy - - 0 - - HFE-1 altered iron status HFE, TFR2 HFE, TFR2 2 1 Johan den Dunnen
00024989 - PubMed: Biasiotto 2003 - - ? Italy - - 0 - - HFE-1 altered iron status HFE, TFR2 TFR2 1 1 Johan den Dunnen
00024990 - PubMed: Del Castillo-Rueda 2011 family - ? Spain - - 0 - - HFE-1 see paper; hyperferritinemia, metabolic syndrome TFR2 TFR2 1 1 Johan den Dunnen
00024991 - PubMed: Mendes 2009 - - ? Portugal - - 0 - - HFE-1 see paper; non-classical TFR2 TFR2 1 1 Johan den Dunnen
00024992 - PubMed: Mendes 2009 - - ? Portugal - - 0 - - HFE-1 see paper; non-classical TFR2 TFR2 1 1 Johan den Dunnen
00024993 - PubMed: Mendes 2009 - - ? Portugal - - 0 - - HFE-1 see paper; non-classical TFR2 TFR2 1 1 Johan den Dunnen
00088175 - - - - - - - - 0 - - HFE-1 - HFE HFE 1 1 Gerard C.P. Schaafsma
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