Klinische FragestellungGerinnungsstörungen, Koagulopathien; Differentialdiagnose

NGS +

[Sanger]

Heterogene Gruppe von Erkrankungen

• Alias: Blutgerinnungsstörung, genetisch bedingte, seltene
• Alias: Coagulopathies; Rare hemorrhagic disorders
• Allelic: Amyloidosis, familial visceral (FGA)
• Allelic: Angioedema, hereditary, 3 (F12)
• Allelic: Budd-Chiari syndrome (F5)
• Allelic: Deep venous thrombosis, protection against (F9)
• Allelic: Myocardial infarction, decreased susceptibility to (F7)
• Allelic: Myocardial infarction, protection against (F13A1)
• Allelic: Myocardial infarction, susceptibility to (ITGB3)
• Allelic: Neural tube defects, susceptibility to (MTHFR)
• Allelic: Nonarteritic anterior ischemic optic neuropathy, susceptibility to (GP1BA)
• Allelic: Pregnancy loss, recurrent, susceptibility to, 1 (F5)
• Allelic: Pregnancy loss, recurrent, susceptibility to, 2 (F2)
• Allelic: Schizophrenia, susceptibility to (MTHFR)
• Allelic: Stroke, ischemic, susceptibility to (F2)
• Allelic: Stroke, ischemic, susceptibility to (F5)
• Allelic: Thrombocytopenia, neonatal alloimmune (ITGB3)
• Allelic: Thrombocytopenia, neonatal alloimmune, BAK antigen related (ITGA2B)
• Allelic: Thrombophilia due to activated protein C resistance (F5)
• Allelic: Thrombophilia due to thrombin defect (F2)
• Allelic: Thrombophilia, susceptibility to, due to factor V Leiden (F5)
• Allelic: Thyroid cancer, nonmedullary, 5 (HABP2)
• Allelic: Vascular disease, susceptibility to (MTHFR)
• Allelic: Venous thrombosis, protection against (F13A1)
• Allelic: Warfarin sensitivity (F9)
• Allelic: von Willebrand disease, platelet-type (GP1BA)
• Afibrinogenemia, congenital (FGA, FGB, FGG)
• Allelic: Hemolytic uremic syndrome, atypical, susceptibility to, 6 (THBD)
• Bernard-Soulier syndrome, type A1, AR (GP1BA)
• Bernard-Soulier syndrome, type A2, AD (GP1BA)
• Bernard-Soulier syndrome, type B (GPBB)
• Bernard-Soulier syndrome, type C (GP9)
• Bernard-Soulier syndrome; von Willebrand disease, platelet-type (GP1BA)
• Bleeding diathesis due to glycoprotein VI deficiency [panelapp] (GP6)
• Bleeding disorder, platelet-type, 11 (GP6)
• Bleeding disorder, platelet-type, 24, AD (ITGB3)
• Coagulation defect [Lit.] (F3)
• Combined factor V + VIII deficiency (LMAN1)
• Dysfibrinogenemia, congenital (FGA, FGB, FGG)
• Dysprothrombinemia (F2)
• Factor V + factor VIII, combined deficiency of (MCFD2)
• Factor V deficiency (F5)
• Factor VII deficiency (F7)
• Factor X deficiency (F10)
• Factor XI deficiency, AD (F11)
• Factor XI deficiency, AR (F11)
• Factor XII deficiency (F12)
• Factor XIII deficiency (F13A1)
• Factor XIIIA deficiency (F13A1)
• Factor XIIIB deficiency (F13B)
• Fletcher factor - prekallikrein - deficiency (KLKB1)
• Giant platelet disorder, isolated (GPBB)
• Glanzmann thrombasthenia 2 (ITGB3)
• Glanzmann thrombasthenia; Bleeding disorder, platelet-type, 16, AD (ITGA2B, ITGB3)
• Hemophilia A (F8)
• Hemophilia B (F9)
• Homocystinuria due to MTHFR deficiency (MTHFR)
• Hyperfibrinolysis, familial, due to increased release of PLAT (PLAT)
• Hypodysfibrinogenemia (FGA)
• Hypodysfibrinogenemia, congenital (FGA, FGG)
• Hypofibrinogenemia, congenital (FGB)
• Hypoprothrombinemia (F2)
• Plasminogen activator inhibitor-1 deficiency (SERPINE1)
• Pseudo von Willebrand disease; VWD, platelet type (GP1BA)
• Pseudoxanthoma elasticum-like disorder with multiple coagulation factor deficiency (GGCX)
• Purpura, posttransfusion (ITGB3)
• Scott syndrome (ANO6)
• Thromboembolism, susceptibility to (MTHFR)
• Thrombophilia [panelapp] (PROCR)
• Thrombophilia due to HRG deficiency (HRG)
• Thrombophilia due to antithrombin III deficiency (SERPINC1)
• Thrombophilia due to heparin cofactor II deficiency (SERPIND1)
• Thrombophilia due to protein C deficiency, AD (PROC)
• Thrombophilia due to protein C deficiency, AR (PROC)
• Thrombophilia due to protein S deficiency, AD + AR (PROS1)
• Thrombophilia due to thrombomodulin defect (THBD)
• Thrombophilia, XL, due to factor IX defect (F9)
• Thrombophilia, familial, due to decreased release of PLAT (PLAT)
• Venous thromboembolism, susceptibility to (HABP2)
• Vitamin K-dependent clotting factors, combined deficiency of, 1 (GGCX)
• von Willebrand disease, types 1, 2A, 2B, 2M, 2N, 3 (VWF)