Disorder "Hemochromatosis Type 1"
Found 24 records
Disorder information
Disorder name:
Hemochromatosis Type 1
Disoder ID:
OMIM entry:
Synonyms:
HFE1,symptomatic form of HFE-related hereditary hemochromatosis,symptomatic form of classic hemochromatosis,symptomatic form of hemochromatosis type 1
Definition:
A hemochromatosis that has_material_basis_in homozygous or compound heterozygous mutation in the HFE gene on chromosome 6p22.
Modifier statisitcs
Record:
24
Gene:
10
Variant:
21
Reference:
4
Effect type:
Expressivity(23)
,Dominance(1)
Modifier effect:
Altered serum transferrin(13)
,Altered transferrin saturation(4)
,Altered serum ferritin(3)
,Altered gene activity(2)
,Heterozygote susceptibility(1)
,Risk factor(1)
| Modifier gene | Variant | Effect type | Modifier effect | Evidence | Effect | PubMed ID |
|---|---|---|---|---|---|---|
| CUBN | CUBN:rs11254389 | Expressivity | Altered transferrin saturation | P=0.0014 | Associated with transferrin saturation in a regression model adjusting for sex, menopause and HFE genotypemore | more |
| CUBN:rs11254389 | Expressivity | Altered serum transferrin | P=0.004 | Associated with serum transferrin in a regression model adjusting for sex, menopause and HFE genotypemore | more | |
| CD163 | CD163:rs6488340 | Expressivity | Altered serum transferrin | P=0.0014 | Associated with serum transferrin in a regression model adjusting for sex, menopause and HFE genotypemore | more |
| CD163:rs7294582 | Expressivity | Altered serum ferritin | P=0.0021 | Associated with serum ferritin in a regression model adjusting for sex, menopause and HFE genotypemore | more |