Platelet disorders | Genes | Inheritance pattern |
Adenosine diphosphate (ADP) receptor defect | P2RY12 | Autosomal recessive (AR) |
Amegakaryocytic thrombocytopenia with radioulnar synostosis | HOXA11 | Autosomal dominant (AD) |
Autosomal dominant thrombocytopenia | ANKRD26; CYCS; TUBB1 | All AD |
Bernard-Soulier syndrome (BSS) | GP1BA; GP1BB; GP9 | All AR |
Bleeding diathesis due to glycoprotein VI deficiency | GP6 | AR |
Chediak-Higashi syndrome | LYST | AR |
Congenital amegakaryocytic thrombocytopenia (CAMT) | MPL | AR |
Cyclic thrombocytopenia and thrombocythemia 1 | THPO | AD |
Deficiency of phospholipase A2, group IVA | PLA2G4A | AR |
Dense granule abnormalities | NBEA | AD |
Familial platelet disorder with predisposition to acute myeloid leukemia (AML) | RUNX1 | AD |
Filamin A-related disorders | FLNA | X-linked |
Ghosal syndrome | TBXAS1 | AR |
Glanzmann thrombasthenia (GT) | ITGA2B; ITGB3 | AR |
Gray platelet syndrome | NBEAL2 | AR |
Hermansky-Pudlak syndrome | HPS1; AP3B1; HPS3; HPS4; HPS5; HPS6; DTNBP1; BLOC1S3 | All AR |
May-Hegglin and other MYH9-related disorders | MYH9 | AD |
Paris-Trousseau thrombocytopenia and Jacobsen syndrome | FLI1 | AD |
Platelet-type von Willebrand disease (VWD) | GP1BA | AD |
Québec platelet disorder | PLAU | AD |
Thrombocytopenia absent radius (TAR) syndrome | RBM8A | AR |
Thromboxane A2 receptor defect | TBXA2R | AR |
Wiskott-Aldrich syndrome (WAS) | WAS | X-linked |
X-linked thrombocytopenia with dyserythropoiesis | GATA1 | X-linked |
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