Symbol
| TTPF
|
Location
| 9q34.2
|
Name
|
thrombotic thrombocytopenic purpura, familial |
Other name(s)
|
microangiopathic hemolytic anemia
hemolytic and uremic syndrome
thrombotic thrombocytopenic purpura/hemolytic-uremic syndrome
Schulman-Upshaw syndrome
Moschcowitz syndrome |
Corresponding gene
|
ADAMTS13
|
Other symbol(s)
| TTP, HUS, USS
|
Main clinical features
|
characterized by occlusive microvascular thrombosis, consumptive thrombocytopenia, and microangiopathic hemolytic anemia (PMID: 18443791))
anemia and thrombocytopenia due to intravascular destruction of erythrocytes and blood platelets, diffuse platelet-rich microthrombi in small vessels of mutiple organs with the major complications including renal failure and neurologic dysfunction including true hemolytic and uremic syndrome (HUS) |
Genetic determination
| autosomal recessive |
Function/system disorder
| hematology |
| kidney and urinary tract |
Type
| disease
|
Name
| a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 13
|
Gene mutation | Chromosome rearrangement | Effect | Comments |
|
---|
missense
|  
| abnormal protein/loss of function
| R193W, I673F, C908Y, and R1123C causing structural defe
| |
Remark(s)
|
mutation may indicate defective synthesis, impaired cellular secretion, or enhanced degradation in the circulation |