Disease: Congenital Thrombotic Thrombocytopenic Purpura ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1268935
Disease: Congenital Thrombotic Thrombocytopenic Purpura
Congenital Thrombotic Thrombocytopenic Purpura 		0.800 GeneticVariation disease BEFREE The aTTP diagnosis was suspected on the basis of the presence of thrombocytopenia and microangiopathic hemolytic anemia with no alternative causes, and was confirmed centrally by a severe plasma deficiency of ADAMTS13 activity (<10%). 31685248 2020
CUI: C1268935
Disease: Congenital Thrombotic Thrombocytopenic Purpura
Congenital Thrombotic Thrombocytopenic Purpura 		0.800 Biomarker disease BEFREE Congenital thrombotic thrombocytopenic purpura (cTTP) is an ultra-rare thrombomicroangiopathy caused by an inherited deficiency of a disintegrin and metalloproteinase with a thrombospondin type 1 motif, member 13 (ADAMTS13). 30770395 2019
CUI: C1268935
Disease: Congenital Thrombotic Thrombocytopenic Purpura
Congenital Thrombotic Thrombocytopenic Purpura 		0.800 AlteredExpression disease BEFREE Reduced ADAMTS13 activity during TTP remission is associated with stroke in TTP survivors. 31431443 2019
CUI: C1268935
Disease: Congenital Thrombotic Thrombocytopenic Purpura
Congenital Thrombotic Thrombocytopenic Purpura 		0.800 AlteredExpression disease BEFREE Unique case of autoantibody mediated inactivation of ADAMTS13 in an Indian TTP patient. 30953939 2019
CUI: C1268935
Disease: Congenital Thrombotic Thrombocytopenic Purpura
Congenital Thrombotic Thrombocytopenic Purpura 		0.800 Biomarker disease BEFREE Comparison of selected laboratory parameters and ADAMTS13 pharmacokinetics among patients with USS was performed. 30394580 2019
CUI: C1268935
Disease: Congenital Thrombotic Thrombocytopenic Purpura
Congenital Thrombotic Thrombocytopenic Purpura 		0.800 Biomarker disease BEFREE We present a pharmacokinetic analysis of ADAMTS-13 in six patients with congenital TTP on established regimes following PI. 30475428 2019
CUI: C1268935
Disease: Congenital Thrombotic Thrombocytopenic Purpura
Congenital Thrombotic Thrombocytopenic Purpura 		0.800 Biomarker disease BEFREE The patient underwent plasma exchange and started rituximab for presumed immune TTP; however, anti-ADAMTS13 antibody titres were negative on two occasions. 31585956 2019
CUI: C1268935
Disease: Congenital Thrombotic Thrombocytopenic Purpura
Congenital Thrombotic Thrombocytopenic Purpura 		0.800 Biomarker disease BEFREE Characteristic clinical picture and gene sequencing of a disintegrin and metalloproteinase with thrombospondin motifs 13 confirmed the diagnosis of Upshaw-Schulman syndrome. 29771863 2019
CUI: C1268935
Disease: Congenital Thrombotic Thrombocytopenic Purpura
Congenital Thrombotic Thrombocytopenic Purpura 		0.800 GeneticVariation disease BEFREE The congenital form of the disease (Upshaw-Schulman syndrome) is related to ADAMTS13 mutations. 30762934 2019
CUI: C1268935
Disease: Congenital Thrombotic Thrombocytopenic Purpura
Congenital Thrombotic Thrombocytopenic Purpura 		0.800 CausalMutation disease CLINVAR Diagnostic high-throughput sequencing of 2396 patients with bleeding, thrombotic, and platelet disorders. 31064749 2019
CUI: C1268935
Disease: Congenital Thrombotic Thrombocytopenic Purpura
Congenital Thrombotic Thrombocytopenic Purpura 		0.800 Biomarker disease BEFREE Acquired thrombotic thrombocytopenic purpura (TTP) is a rare thrombotic microangiopathy caused by the immune-mediated severe deficiency of ADAMTS13. 30861548 2019
CUI: C1268935
Disease: Congenital Thrombotic Thrombocytopenic Purpura
Congenital Thrombotic Thrombocytopenic Purpura 		0.800 Biomarker disease BEFREE Patients with TTP and severe ADAMTS13 deficiency have high risk of disease recurrence, yet the ability to predict which patients will have recurrence remains limited. 30178615 2018
CUI: C1268935
Disease: Congenital Thrombotic Thrombocytopenic Purpura
Congenital Thrombotic Thrombocytopenic Purpura 		0.800 Biomarker disease BEFREE To investigate the development of the ADAMTS13-specific antibody response during the course of the disease, we analyzed the concentration, subclass distribution, and inhibitory potential of anti-ADAMTS13 IgG autoantibodies in samples of TTP patients drawn during the first acute phase, in remission, and during relapse. 30061898 2018
CUI: C1268935
Disease: Congenital Thrombotic Thrombocytopenic Purpura
Congenital Thrombotic Thrombocytopenic Purpura 		0.800 Biomarker disease BEFREE TTP is the consequence of a severe ADAMTS-13 deficiency, either immune-mediated as a result of circulating autoantibodies, or caused by mutations in ADAMTS-13. 29356300 2018
CUI: C1268935
Disease: Congenital Thrombotic Thrombocytopenic Purpura
Congenital Thrombotic Thrombocytopenic Purpura 		0.800 AlteredExpression disease BEFREE In this article, we review the epidemiology, natural history, and clinical presentation of TTP and laboratory assays for TTP including ADAMTS13 activity and inhibitor assays. 30504354 2018
CUI: C1268935
Disease: Congenital Thrombotic Thrombocytopenic Purpura
Congenital Thrombotic Thrombocytopenic Purpura 		0.800 GeneticVariation disease BEFREE Patients/Methods We studied an independent cohort of 112 consecutive hospitalized patients with suspected thrombotic microangiopathy and appropriate ADAMTS-13 testing (including 21 patients with TTP diagnosis). 29064619 2018
CUI: C1268935
Disease: Congenital Thrombotic Thrombocytopenic Purpura
Congenital Thrombotic Thrombocytopenic Purpura 		0.800 AlteredExpression disease BEFREE TTP is associated with a high mortality and arises from either a congenital or acquired autoimmune deficiency of the plasma enzyme ADAMTS13. 29304523 2018
CUI: C1268935
Disease: Congenital Thrombotic Thrombocytopenic Purpura
Congenital Thrombotic Thrombocytopenic Purpura 		0.800 AlteredExpression disease BEFREE These findings suggest that the severity of glomerular injury in USS is associated with deficient ADAMTS13 expression and local complement activation, particularly in vascular regions with higher endothelial shear stress. 30195146 2018
CUI: C1268935
Disease: Congenital Thrombotic Thrombocytopenic Purpura
Congenital Thrombotic Thrombocytopenic Purpura 		0.800 Biomarker disease BEFREE ADAMTS13 activity may be reported as normal in a patient with characteristic clinical features of TTP, or the unexpected report of ADAMTS13 deficiency in a patient with another established disorder may lead to the discovery of TTP. 29945940 2018
CUI: C1268935
Disease: Congenital Thrombotic Thrombocytopenic Purpura
Congenital Thrombotic Thrombocytopenic Purpura 		0.800 GeneticVariation disease BEFREE Genetic and Functional Characterization of ADAMTS13 Variants in a Patient Cohort with Upshaw-Schulman Syndrome Investigated in Germany. 29554699 2018
CUI: C1268935
Disease: Congenital Thrombotic Thrombocytopenic Purpura
Congenital Thrombotic Thrombocytopenic Purpura 		0.800 GeneticVariation disease BEFREE Patients suffering from congenital thrombotic thrombocytopenic purpura (cTTP) have a deficiency in ADAMTS13 due to mutations in their ADAMTS13 gene. 29763513 2018
CUI: C1268935
Disease: Congenital Thrombotic Thrombocytopenic Purpura
Congenital Thrombotic Thrombocytopenic Purpura 		0.800 Biomarker disease BEFREE Acquired thrombotic thrombocytopenic purpura (TTP) is an autoimmune disorder resulting in potentially life-threating systemic thrombotic microangiopathy due to production of antibodies directed against the von Willebrand factor-cleaving protease ADAMTS13. 29564686 2018
CUI: C1268935
Disease: Congenital Thrombotic Thrombocytopenic Purpura
Congenital Thrombotic Thrombocytopenic Purpura 		0.800 Biomarker disease BEFREE This article evaluates the influence of <i>ADAMTS13</i> sequence variations on both clinical/biological phenotype and ADAMTS13 conformation in USS. 30312976 2018
CUI: C1268935
Disease: Congenital Thrombotic Thrombocytopenic Purpura
Congenital Thrombotic Thrombocytopenic Purpura 		0.800 Biomarker disease BEFREE ADAMTS13-specific CICs seem to be able to predict the recurrence of acute TTP episodes in the first 2years after disease onset. 27887777 2017
CUI: C1268935
Disease: Congenital Thrombotic Thrombocytopenic Purpura
Congenital Thrombotic Thrombocytopenic Purpura 		0.800 AlteredExpression disease BEFREE These data demonstrate the feasibility of using SB100X-mediated gene therapy to achieve sustained expression of transgene ADAMTS13 and long-term prophylaxis against TTP in <i>Adamts13</i><sup>-/-</sup> mice. 28254814 2017