Disorder "Hemophilia B"
Found 2 records
Disorder information
Disorder name:
Hemophilia B
Disoder ID:
OMIM entry:
Synonyms:
factor IX deficiency, Congenital factor IX deficiency, Congenital factor IX disorder, deficiency, functional factor IX
Definition:
Hemophilia is a rare disorder in which your blood doesn't clot normally because it lacks sufficient blood-clotting proteins (clotting factors). If you have hemophilia, you may bleed for a longer time after an injury than you would if your blood clotted normally.
Modifier statisitcs
Record:
2
Gene:
1
Variant:
2
Reference:
1
Effect type:
Expressivity(2)
Modifier effect:
Altered gene activity(1)
,Altered plasma prothrombin level(1)
| Modifier gene | Variant | Effect type | Modifier effect | Evidence | Effect | PubMed ID |
|---|---|---|---|---|---|---|
| F5 | F5:c.20210A | Expressivity | Altered plasma prothrombin level | From review article | This variant, which was first described in 1996, was found to be linked to elevated plasma prothrombin levels and with a moderately increased risk for first venous thrombotic eventsmore | more |
| F5:c.G1961A(p.Arg509Gln) | Expressivity | Altered gene activity | From review article | These variants in haemophiliacs constitutes an important step in prevention, prognosis and therapeutic alternatives of the disease.more | more |
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