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 |
|---|---|---|---|---|---|---|
| TMPRSS6 | TMPRSS6:c.1536C>T(p.Asp512Asp) | Expressivity | Altered transferrin saturation | P=0.0001 | Associated with transferrin saturation in a regression model adjusting for sex, menopause and HFE genotypemore | more |
| TMPRSS6:rs5756506 | Expressivity | Altered transferrin saturation | P=0.0032 | Associated with transferrin saturation in a regression model adjusting for sex, menopause and HFE genotypemore | more | |
| TMPRSS6:c.2246T>C(p.Val749Ala) | Expressivity | Altered gene activity | OR=1.84, 95% CI: 1.1-3.2 | The p.A736V TMPRSS6 polymorphism is likely a modifier of HH expression.more | more | |
| TF | TF:rs1049296 | Expressivity | Altered transferrin saturation | P=0.0083 | Associated with transferrin saturation in a regression model adjusting for sex, menopause and HFE genotypemore | more |
| TF:rs1049296 | Expressivity | Altered serum transferrin | P=0.0093 | Associated with serum transferrin in a regression model adjusting for sex, menopause and HFE genotypemore | more | |
| TF:rs12493168 | Expressivity | Altered serum transferrin | P=0.0021 | Associated with serum transferrin in a regression model adjusting for sex, menopause and HFE genotypemore | more | |
| TF:rs1358024 | Expressivity | Altered serum transferrin | P<0.0001 | Associated with serum transferrin in a regression model adjusting for sex, menopause and HFE genotypemore | more | |
| TF:rs1405023 | Expressivity | Altered serum transferrin | P=0.0004 | Associated with serum transferrin in a regression model adjusting for sex, menopause and HFE genotypemore | more | |
| TF:rs1799852 | Expressivity | Altered serum transferrin | P=0.0023 | Associated with serum transferrin in a regression model adjusting for sex, menopause and HFE genotypemore | more | |
| TF:rs1880669 | Expressivity | Altered serum transferrin | P<0.0001 | Associated with serum transferrin in a regression model adjusting for sex, menopause and HFE genotypemore | more |