Disorder "Hemophilia A"
Found 1 record
Disorder information
Disorder name:
Hemophilia A
Disoder ID:
OMIM entry:
Synonyms:
factor VIII deficiency, hereditary Factor VIII deficiency, congenital factor VIII disorder, hemophilia A, Subhemophilia, Factor VIII deficiency, hemophilia type A, hemophilia type a, hereditary Factor VIII deficiency disease
Definition:
Hemophilia A is the most common form of hemophilia (see this term) characterized by spontaneous or prolonged hemorrhages due to factor VIII deficiency.
Modifier statisitcs
Record:
1
Gene:
1
Variant:
1
Reference:
1
Effect type:
Expressivity(1)
Modifier effect:
Altered severity(1)
| Modifier gene | Variant | Effect type | Modifier effect | Evidence | Effect | PubMed ID |
|---|---|---|---|---|---|---|
| F8 | F8:rs1050705 | Expressivity | Altered severity | Gene activity study | miR‐26a‐5p and miR‐26b‐5p, predicted to bind with favourable energetic scores at the polymorphic region c.8728 when allele G is present may act as phenotype modifiers in HA patients.more | more |
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