Disorder "Hemochromatosis"
Found 5 records
Disorder information
Disorder name:
Hemochromatosis 
Disoder ID:
OMIM entry:
Synonyms:
Haemochromatosis,diabetes bronze,iron storage disorder 
Definition:
A metal metabolism disorder characterized by the accumulation of iron in various organs of the body. 
Modifier statisitcs
Record:
Gene:
Variant:
Reference:
Effect type:
Penetrance(3) ,Expressivity(2)  
Modifier effect:
Altered incidence(3) ,Altered amount of iron removed and presence of liver disease(1) ,Risk factor(1)  
Modifier gene Variant Effect type Modifier effect Evidence Effect PubMed ID
TFR2 TFR2:rs41303501 Penetrance  Altered incidence  Gene activity study  a modifier for penetrance of the hemochromatosis phenotypemore more
SLC40A1 SLC40A1:rs1439816 Expressivity  Altered amount of iron removed and presence of liver disease  P=0.01  IVS1-24 C>G on the ferroportin gene seems to be a genetic modifier for clinical aggressiveness of HFE1 haemochromatosismore more
HFE HFE:c.77-206G>A Penetrance  Altered incidence  Gene activity study  Cp and HFE and represents the first example of a modifier gene with a protective effect, in which heterozygosity reduces the iron load in the context of HFE deficiencymore more
HFE:c.187C>G(p.His63Asp) Expressivity  Risk factor  OR=5.7 for H63D/H63D (95% CI: 3.2 to 10.1, AF = 0.01)  C282Y homozygosity confers the highest risk for iron overload but the H63D mutation is also associated with increased risk.more more
CP CP:p.Phe435* Penetrance  Altered incidence  Gene activity study  Cp and HFE and represents the first example of a modifier gene with a protective effect, in which heterozygosity reduces the iron load in the context of HFE deficiencymore more
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