Klinische FragestellungSebastian-Syndrom, Differentialdiagnose

NGS +

• Alias: Alport syndrome with macrothrombocytopenia (MYH9)
• Alias: Bleeding disorder, platelet type, 6; BDPLT6 (MYH9)
• Alias: Döhle leukocyte inclusions with giant platelets (MYH9)
• Alias: Epstein syndrome (MYH9)
• Alias: Fechtner syndrome (MYH9)
• Alias: Giant platelet syndrome with thrombocytopenia (MYH9)
• Alias: Macrothrombocytopenia and progressive sensorineural deafness (MYH9)
• Alias: Macrothrombocytopenia with dispersed leukocyte inclusions (MYH9)
• Alias: Macrothrombocytopenia with leukocyte inclusions (MYH9)
• Alias: Macrothrombocytopenia, nephritis + deafness (MYH9)
• Alias: Macrothrombocytopenia, nephritis, deafness and leukocyte inclusions (MYH9)
• Alias: May-Hegglin anomalia (MYH9)
• Alias: Sebastian platelet sydrome (MYH9)
• Allelic: Cardiac valvular dysplasia, XL (FLNA)
• Allelic: Deafness, AD 17 (MYH9)
• Allelic: FG syndrome 2 (FLNA)
• Allelic: Frontometaphyseal dysplasia 1 (FLNA)
• Allelic: Intestinal pseudoobstruction, neuronal (FLNA)
• Allelic: Melnick-Needles syndrome (FLNA)
• Allelic: Myocardial infarction, susceptibility to (ITGB3)
• Allelic: Nonaka myopathy (GNE)
• Allelic: Nonarteritic anterior ischemic optic neuropathy, susceptibility to (GP1BA)
• Allelic: Otopalatodigital syndrome, type I (FLNA)
• Allelic: Otopalatodigital syndrome, type II (FLNA)
• Allelic: Seizures, cortical blindness, microcephaly syndrome (DIAPH1)
• Allelic: Terminal osseous dysplasia (FLNA)
• Allelic: Thrombocytopenia, neonatal alloimmune (ITGB3)
• Bernard-Soulier syndrome, type A1, AR (GP1BA)
• Bernard-Soulier syndrome, type A2, AD (GP1BA)
• Bernard-Soulier syndrome, type B (GP1BB)
• Bernard-Soulier syndrome, type C (GP9)
• Bleeding disorder, platelet-type, 15 (ACTN1)
• Bleeding disorder, platelet-type, 16, AD (ITGA2B)
• Bleeding disorder, platelet-type, 20 (SLFN14)
• Bleeding disorder, platelet-type, 21 (FLI1)
• Bleeding disorder, platelet-type, 24, AD (ITGB3)
• Congenital short bowel syndrome (FLNA)
• Deafness, AD 1, +/- thrombocytopenia (DIAPH1)
• Giant platelet disorder, isolated (GP1BB)
• Glanzmann thrombasthenia 1 (ITGA2B)
• Glanzmann thrombasthenia 2 (ITGB3)
• Gray platelet syndrome (NBEAL2)
• Heterotopia, periventricular, 1 (FLNA)
• Macrothrombocytopenia + granulocyte inclusions +/- nephritis/sensorineural hearing loss (MYH9)
• Macrothrombocytopenia, isolated, 1, AD (TUBB1)
• Purpura, posttransfusion (ITGB3)
• Sialuria (GNE)
• Takenouchi-Kosaki syndrome (CDC42)
• Thrombocytopenia 6 (SRC)
• Thrombocytopenia, neonatal alloimmune, BAK antigen related (ITGA2B)
• von Willebrand disease, platelet-type (GP1BA)