Disorder "Hereditary hemochromatosis type 1"
Found 1 record
Disorder information
Disorder name:
Hereditary hemochromatosis type 1
Disoder ID:
OMIM entry:
Synonyms:
hemochromatosis, type 1; HFE1, symptomatic form of hemochromatosis type 1, symptomatic form of HFE-related hereditary hemochromatosis, symptomatic form of classic hemochromatosis, hereditary hemochromatosis, classic hemochromatosis, HFE-associated Hereditary hemochromatosis, HFE-related hemochromatosis, hemochromatosis type 1, HFE1, C282Y/C282Y hemochromatosis
Definition:
Hemochromatosis type 1 (classic) is the most common form of hereditary hemochromatosis (HH), a group of diseases characterized by excessive tissue iron deposition. Due to its incidence (1/200-1/1000), it is not considered as a rare disease, unlike the other subforms of the disease
Modifier statisitcs
Record:
1
Gene:
1
Variant:
1
Reference:
1
Effect type:
Expressivity(1)
Modifier effect:
Altered gene activity(1)
| Modifier gene | Variant | Effect type | Modifier effect | Evidence | Effect | PubMed ID |
|---|---|---|---|---|---|---|
| CYBRD1 | CYBRD1:c.-399T>G | Expressivity | Altered gene activity | P=0.004 | The SNP rs884409 in CYBRD1 is a novel modifier specific to HFE C282Y homozygotes.more | more |
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