|
ADAMTS13
|
0.200 |
Biomarker
|
phenotype |
BEFREE |
The disease is accompanied with microangiopathic haemolytic anaemia, consumptive thrombocytopenia and lies on a severe deficiency in ADAMTS13, the von Willebrand factor-cleaving protease.
|
31759790 |
2019 |
|
ADAMTS13
|
0.200 |
Biomarker
|
phenotype |
BEFREE |
For example, HLA-DRB1 *11 presents the self-antigen and induces an immune response against ADAMTS13, which is associated with thrombocytopenia in TTP patients.
|
30543580 |
2019 |
|
ADAMTS13
|
0.200 |
Biomarker
|
phenotype |
BEFREE |
Statistical analysis showed that loss of VWF-HMWM as assessed by VWF:CB < 70 IU/dL is associated with detectable anti-ADAMTS13 antibodies, severe neurological symptoms and thrombocytopenia (p < 0.05).
|
31330376 |
2019 |
|
ADAMTS13
|
0.200 |
GeneticVariation
|
phenotype |
BEFREE |
We describe a case of cTTP first diagnosed at age 70 years in a female presenting with an acute ischaemic stroke and thrombocytopenia, in whom A Disintegrin And Metalloproteinase with a Thrombospondin type 1 Motif, member 13 (ADAMTS13) levels were <10%, suggestive of thrombotic thrombocytopaenic purpura (TTP).
|
31585956 |
2019 |
|
ADAMTS13
|
0.200 |
Biomarker
|
phenotype |
BEFREE |
ADAMTS13 analysis was indicated in 10 patients with thrombocytopenia, performed in 2 patients with 1 diagnosed with TTP thereafter.
|
29983229 |
2018 |
|
ADAMTS13
|
0.200 |
Biomarker
|
phenotype |
BEFREE |
Objectives To evaluate the role of obesity and ADAMTS-13 deficiency in TTP, and to establish whether macrophages contribute to thrombocytopenia.
|
29121438 |
2018 |
|
ADAMTS13
|
0.200 |
GeneticVariation
|
phenotype |
BEFREE |
Autoimmune thrombotic thrombocytopenic purpura (iTTP) is caused by autoantibody-mediated severe a disintegrin and metalloprotease with thrombospondin type 1 repeats, member 13 (ADAMTS13) deficiency leading to micro-angiopathic haemolytic anaemia (MAHA) and thrombocytopenia with organ damage.
|
30235478 |
2018 |
|
ADAMTS13
|
0.200 |
GeneticVariation
|
phenotype |
BEFREE |
Initial investigations revealed severe thrombocytopenia, a disintegrin and metalloproteinase with a thrombospondin type 1 motif, member 13 (ADAMTS13) activity level of less than 1%, and strongly elevated D-dimer and lactate dehydrogenase levels.
|
30222856 |
2018 |
|
ADAMTS13
|
0.200 |
Biomarker
|
phenotype |
BEFREE |
Systematic testing of ADAMTS13 activity and anti-ADAMTS13 antibodies in patients who present with neurological symptoms and thrombocytopenia, in the presence of antiphospholipid antibodies, may help with the diagnosis of the rare thrombotic thrombocytopenic purpura-antiphospholipid syndrome combination.
|
27898514 |
2017 |
|
ADAMTS13
|
0.200 |
AlteredExpression
|
phenotype |
BEFREE |
Two patients with characteristic clinical features of TTP (microangiopathic hemolytic anemia and thrombocytopenia, no alternative diagnosis) and multiple relapses initially had ADAMTS13 activity >10% by both measurements.
|
29296701 |
2017 |
|
ADAMTS13
|
0.200 |
Biomarker
|
phenotype |
BEFREE |
Increased Von Willebrand factor, decreased ADAMTS13 and thrombocytopenia in melioidosis.
|
28296884 |
2017 |
|
ADAMTS13
|
0.200 |
AlteredExpression
|
phenotype |
BEFREE |
In two male sons, this mutation caused a severe (< 3%) deficiency of ADAMTS-13 activity and antigen level, associated with periodic thrombocytopenia, haemolytic anaemia and mild mental confusion.
|
26272487 |
2016 |
|
ADAMTS13
|
0.200 |
GeneticVariation
|
phenotype |
BEFREE |
Congenital thrombotic thrombocytopenic purpura (TTP) (also known as Upshaw-Schulman syndrome, USS) is a rare, life-threatening disease characterized by thrombocytopenia and microangiopathic hemolytic anemia, associated with the deficiency of the von Willebrand factor-cleaving protease (ADAMTS13) due to mutations in the corresponding gene.
|
19847791 |
2010 |
|
ADAMTS13
|
0.200 |
Biomarker
|
phenotype |
BEFREE |
Analysis of ADAMTS13 has led to the recognition of subclinical TTP and atypical TTP presenting with thrombocytopenia or acute focal neurological deficits without concurrent microangiopathic hemolysis.
|
19180123 |
2009 |
|
ADAMTS13
|
0.200 |
Biomarker
|
phenotype |
BEFREE |
Hereditary thrombotic thrombocytopenic purpura is caused by mutations in a disintegrin and metalloprotease with thrombospondin motifs (ADAMTS13) resulting in defective processing of von Willebrand factor (VWF) that causes intravascular platelet aggregation culminating in thrombocytopenia with shistocytic anemia.
|
19786614 |
2009 |
|
ADAMTS13
|
0.200 |
AlteredExpression
|
phenotype |
BEFREE |
These observations emphasize the importance of measuring ADAMTS13 activity in the evaluation of thrombocytopenia during childhood and pregnancy.
|
19055667 |
2009 |
|
ADAMTS13
|
0.200 |
Biomarker
|
phenotype |
LHGDN |
Inherited ADAMTS13 deficiency: unique presentation and treatment.
|
18240172 |
2008 |
|
ADAMTS13
|
0.200 |
Biomarker
|
phenotype |
BEFREE |
Absence of VWF resulted in complete protection from shigatoxin (Stx)-induced thrombocytopenia, demonstrating an absolute requirement for VWF in this model (Stx has been shown previously to trigger TTP in ADAMTS13-deficient mice).
|
18083848 |
2008 |
|
ADAMTS13
|
0.200 |
Biomarker
|
phenotype |
LHGDN |
Acquired ADAMTS-13 deficiency in pediatric patients with severe sepsis.
|
17229645 |
2007 |
|
ADAMTS13
|
0.200 |
Biomarker
|
phenotype |
BEFREE |
In humans, genetic or acquired deficiency in ADAMTS13 causes thrombotic thrombocytopenic purpura (TTP), a condition characterized by thrombocytopenia and hemolytic anemia with microvascular platelet thrombi.
|
16368888 |
2006 |
|
ADAMTS13
|
0.200 |
Biomarker
|
phenotype |
BEFREE |
Introduction of the genetic background CASA/Rk (a mouse strain with elevated plasma vWF) resulted in the appearance of spontaneous thrombocytopenia in a subset of ADAMTS13-deficient mice and significantly decreased survival.
|
16200209 |
2005 |
|
ADAMTS13
|
0.200 |
Biomarker
|
phenotype |
LHGDN |
Epitope mapping of ADAMTS13 autoantibodies in acquired thrombotic thrombocytopenic purpura.
|
14976043 |
2004 |
|
ADAMTS13
|
0.200 |
Biomarker
|
phenotype |
BEFREE |
Thrombocytopenia and severe hyperbilirubinemia in the neonatal period secondary to congenital thrombotic thrombocytopenic purpura and ADAMTS13 deficiency.
|
15284596 |
2004 |
|
ADAMTS13
|
0.200 |
AlteredExpression
|
phenotype |
BEFREE |
Severe deficiency of von Willebrand factor (VWF)-cleaving protease (ADAMTS-13) activity (<5% of normal) is a specific finding for acute idiopathic thrombotic thrombocytopenic purpura (TTP), a disorder that presents as thrombocytopenia, microangiopathic hemolytic anemia, and often organ dysfunction such as neurological disturbances or renal failure, and fever.
|
14727262 |
2004 |
|
ADAMTS13
|
0.200 |
AlteredExpression
|
phenotype |
LHGDN |
Schistocytic anaemia, severe thrombocytopenia, and renal dysfunction: thrombotic microangiopathy due to severe acquired ADAMTS-13 deficiency. Case 2.
|
12923577 |
2003 |