Genetic Characterization of Inherited Platelet Disorders
| Disease . | Gene(s) . | Affected protein(s) . | Megakaryocyte/platelet function . | Reference . |
|---|---|---|---|---|
| Glanzmann thrombasthenia | ITGA2B | Integrin αIIb | Binding to fibrinogen or VWF | 75,81 |
| ITGB3 | Integrin β3 | |||
| Bernard-Soulier syndrome | GP1BA | Glycoprotein Ibα | Binding to VWF or thrombin | 82 |
| GPIBB | Glycoprotein Ibβ | |||
| GP9 | Glycoprotein IX | |||
| Gray platelet syndrome | NBEAL2 | Neurobeachin-like protein 2 | Vesicular trafficking; platelet α granule development | 88-90 |
| Familial platelet disorder with a predisposition to AML | RUNX1 | Runt-related transcription factor 1 | Transcription factor involved in megakaryocyte differentiation | 86,87 |
| Thrombocytopenia 2 | ANKRD26 | Ankyrin repeat domain-containing protein 26 | Unknown | 91,92 |
| Thrombocytopenia-absent radius syndrome | RBM8A | RNA-binding protein 8A | Unknown | 93 |
| Wiskott-Aldrich syndrome | WAS | Wiskott-Aldrich syndrome protein | Actin cytoskeleton organization and signaling | 74 |
| Chediak-Higashi syndrome | LYST | Lysosomal-trafficking regulator | Lysosomal trafficking | 77 |
| MYH9-related disease | MYH9 | Myosin heavy chain 9 | Proplatelet formation | 77,78 |
| Hermansky-Pudlak syndrome | AP3B1 | AP-3 complex subunit β-1 | 79 | |
| BLOC1S3 | Biogenesis of lysosomal-related organelles complex | Formation of lysosomal-related organelles | ||
| BLOC1S6 | ||||
| DTNBP1 | ||||
| HPS1 | ||||
| HPS3 | ||||
| HPS4 | ||||
| HPS5 | ||||
| HPS6 | ||||
| HPS7 | ||||
| HPS8 | ||||
| HPS9 |
| Disease . | Gene(s) . | Affected protein(s) . | Megakaryocyte/platelet function . | Reference . |
|---|---|---|---|---|
| Glanzmann thrombasthenia | ITGA2B | Integrin αIIb | Binding to fibrinogen or VWF | 75,81 |
| ITGB3 | Integrin β3 | |||
| Bernard-Soulier syndrome | GP1BA | Glycoprotein Ibα | Binding to VWF or thrombin | 82 |
| GPIBB | Glycoprotein Ibβ | |||
| GP9 | Glycoprotein IX | |||
| Gray platelet syndrome | NBEAL2 | Neurobeachin-like protein 2 | Vesicular trafficking; platelet α granule development | 88-90 |
| Familial platelet disorder with a predisposition to AML | RUNX1 | Runt-related transcription factor 1 | Transcription factor involved in megakaryocyte differentiation | 86,87 |
| Thrombocytopenia 2 | ANKRD26 | Ankyrin repeat domain-containing protein 26 | Unknown | 91,92 |
| Thrombocytopenia-absent radius syndrome | RBM8A | RNA-binding protein 8A | Unknown | 93 |
| Wiskott-Aldrich syndrome | WAS | Wiskott-Aldrich syndrome protein | Actin cytoskeleton organization and signaling | 74 |
| Chediak-Higashi syndrome | LYST | Lysosomal-trafficking regulator | Lysosomal trafficking | 77 |
| MYH9-related disease | MYH9 | Myosin heavy chain 9 | Proplatelet formation | 77,78 |
| Hermansky-Pudlak syndrome | AP3B1 | AP-3 complex subunit β-1 | 79 | |
| BLOC1S3 | Biogenesis of lysosomal-related organelles complex | Formation of lysosomal-related organelles | ||
| BLOC1S6 | ||||
| DTNBP1 | ||||
| HPS1 | ||||
| HPS3 | ||||
| HPS4 | ||||
| HPS5 | ||||
| HPS6 | ||||
| HPS7 | ||||
| HPS8 | ||||
| HPS9 |