IllnessMacrothrombocytopenias, differential diagnosis

NGS +

[Sanger]

Congenital thrombocytopenia associated with the presence of large platelets

• Alias: Macrothrombocytopenia (and hearing loss)
• Allelic: Alzheimer disease, late-onset, susceptibility to (PLAU)
• Allelic: Amyotrophic lateral sclerosis-parkinsonism/dementia complex, susceptibility to (TRPM7)
• Allelic: Cardiac valvular dysplasia, XL (FLNA)
• Allelic: Congenital short bowel syndrome (FLNA)
• Allelic: Deafness, AD 17 (MYH9)
• Allelic: Dystonia, juvenile-onset (ACTB)
• Allelic: FG syndrome 2 (FLNA)
• Allelic: Frontometaphyseal dysplasia 1 (FLNA)
• Allelic: Gallbladder disease 4 (ABCG8)
• Allelic: Heterotopia, periventricular, 1 (FLNA)
• Allelic: Leukemia, acute myeloid (RUNX1)
• 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)
• Anemia, XL, with/-out neutropenia and/or platelet abnormalities (GATA1)
• Baraitser-Winter syndrome 1 (ACTB)
• Bernard-Soulier syndrome, type A1, AR + A2, AD (GP1BA)
• Bernard-Soulier syndrome, type B (GP1BB)
• Bernard-Soulier syndrome, type C (GP9)
• Bleeding disorder, platelet type, 7; Scott sydrome (ANO6)
• Bleeding disorder, platelet-type, 11 (GP6)
• Bleeding disorder, platelet-type, 13, susceptibility to (TBXA2R)
• Bleeding disorder, platelet-type, 15 (ACTN1)
• Bleeding disorder, platelet-type, 16, AD (ITGA2B, ITGB3)
• Bleeding disorder, platelet-type, 17 (GFI1B)
• Bleeding disorder, platelet-type, 18 (RASGRP2)
• Bleeding disorder, platelet-type, 19 (PRKACG)
• Bleeding disorder, platelet-type, 20 (SLFN14)
• Bleeding disorder, platelet-type, 21 (FLI1)
• Deafness, AD 1, with/-out thrombocytopenia (DIAPH1)
• Giant platelet disorder, isolated (GP1BB)
• Glanzmann thrombasthenia (ITGA2B, ITGB3)
• Gray-Platelet syndrome (NBEAL2)
• Intestinal pseudoobstruction, neuronal (FLNA)
• Leukemia, megakaryoblastic, with/-out Down syndrome, somatic (GATA1)
• Macrothrombocytopenia + granulocyte inclusions with/-out nephritis/sensorineural hearing loss (MYH9)
• Macrothrombocytopenia [panelapp] (TRPM7)
• Macrothrombocytopenia, AD, TUBB1-related (TUBB1)
• Platelet disorder, familial, with associated myeloid malignancy (RUNX1)
• Purpura, posttransfusion (ITGB3)
• Quebec platelet disorder (PLAU)
• Radioulnar synostosis + amegakaryocytic thrombocytopenia 1 (HOXA11)
• Radioulnar synostosis + amegakaryocytic thrombocytopenia 2 (MECOM)
• Sialuria (GNE)
• Sitosterolemia 1 (ABCG8)
• Sitosterolemia 2 (ABCG5)
• Takenouchi-Kosaki [macrothrombocytopenia + MR] syndrome (CDC42)
• Thrombocythemia 1 (THPO)
• Thrombocytopenia 2 (ANKRD26)
• Thrombocytopenia 5 (ETV6)
• Thrombocytopenia 6 (SRC)
• Thrombocytopenia with beta-thalassemia, XL (GATA1)
• Thrombocytopenia, XL, with/-out dyserythropoietic anemia (GATA1)
• Thrombocytopenia, anemia + myelofibrosis (MPIG6B)
• Thrombocytopenia, neonatal alloimmune (ITGB3)
• Thrombocytopenia, neonatal alloimmune, BAK antigen related (ITGA2B)
• von Willebrand disease, platelet-type (GP1BA)
• von Willebrand disease, types 1, 2A, 2B, 2M, 2N, 3 (VWF)