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:
5
Gene:
4
Variant:
5
Reference:
4
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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