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 |
|---|---|---|---|---|---|---|
| TF | TF:rs3811647 | Expressivity | Altered serum transferrin | P<0.0001 | Associated with serum transferrin in a regression model adjusting for sex, menopause and HFE genotypemore | more |
| TF:rs8177215 | Expressivity | Altered serum transferrin | P=0.0039 | Associated with serum transferrin in a regression model adjusting for sex, menopause and HFE genotypemore | more | |
| TF:rs8177326 | Expressivity | Altered serum transferrin | P=0.0024 | Associated with serum transferrin in a regression model adjusting for sex, menopause and HFE genotypemore | more | |
| STEAP3 | STEAP3:rs838102 | Expressivity | Altered serum transferrin | P=0.0056 | Associated with serum transferrin in a regression model adjusting for sex, menopause and HFE genotypemore | more |
| PCSK7 | PCSK7:c.1156-1135C>G | Expressivity | Risk factor | P=0.0018 | PCSK7 rs236918 C allele is a risk factor for cirrhosis development in Italian patients with HFE-Hemochromatosis.more | more |
| HFE | HFE:rs1045537 | Expressivity | Altered serum transferrin | P=0.0083 | Associated with serum transferrin in a regression model adjusting for sex, menopause and HFE genotypemore | more |
| HAMP | HAMP:p.Met50delIVS2+1(-G) | Dominance | Heterozygote susceptibility | Pedigree analysis | Heterozygote susceptibilitymore | more |
| FLVCR1 | FLVCR:rs1284859 | Expressivity | Altered serum ferritin | P=0.0075 | Associated with serum ferritin in a regression model adjusting for sex, menopause and HFE genotypemore | more |
| CYBRD1 | CYBRD1:c.-399T>G | Expressivity | Altered gene activity | P=0.004 | Functional testing of this CYBRD1 promoter polymorphism using a heterologous expression assay resulted in a 30% decrease in basal promoter activity relative to the common genotype.more | more |
| CYBRD1:c.-399T>G | Expressivity | Altered serum ferritin | P=0.008 | Associated with serum ferritin in a regression model adjusting for sex, menopause and HFE genotypemore | more |