Disorder "Thrombotic thrombocytopenic purpura"
Found 2 records
Disorder information
Disorder name:
Thrombotic thrombocytopenic purpura
Disoder ID:
OMIM entry:
Synonyms:
Moschcowitz's syndrome
Definition:
Thrombotic thrombocytopenic purpura (TTP) is an aggressive and life-threatening form of thrombotic microangiopathy (TMA; see this term) characterized by profound peripheral thrombocytopenia, microangiopathic hemolytic anemia (MAHA) and organ failure of variable severity and is comprised of congenital TTP and acquired TTP (see these terms).
Modifier statisitcs
Record:
2
Gene:
1
Variant:
2
Reference:
1
Effect type:
Expressivity(2)
Modifier effect:
Altered effect of disease causing mutation(2)
| Modifier gene | Variant | Effect type | Modifier effect | Evidence | Effect | PubMed ID |
|---|---|---|---|---|---|---|
| ADAMTS13 | ADAMTS13:rs2301612 | Expressivity | Altered effect of disease causing mutation | Gene activity study | R7W and Q448E were positive modifiers of ADAMTS13 secretion in the context of P618A and A732Vmore | more |
| ADAMTS13:rs34024143 | Expressivity | Altered effect of disease causing mutation | Gene activity study | R7W and Q448E were positive modifiers of ADAMTS13 secretion in the context of P618A and A732Vmore | more |
Total 2,Each Page
,Jump To
Page