Defects in platelet-vessel wall interaction (disorders of adhesion)

• von Willebrand disease (deficiency or defect in plasma vWF)

• Bernard-Soulier syndrome (deficiency or defect in GPIb)

Defects in platelet-platelet interaction (disorders of aggregation)

• Congenital afibrinogenemia (deficiency of plasma fibrinogen)

• Glanzmann thrombasthenia (deficiency or defect in GPIIb-IIIa)

Disorders of platelet secretion and abnormalities of granules

• Storage pool deficiency

• Quebec platelet disorder

Disorders of platelet secretion and signal transduction (primary secretion defects)

• Defects in platelet-agonist interaction (receptor defects) Receptor defects: thromboxane A₂, collagen, ADP, epinephrine

• Defects in G-protein activation

  Gαq deficiency

  Gαs abnormalities

  Gαi1 deficiency

• Defects in phosphatidylinositol metabolism Phospholipase C-2 deficiency

• Defects in calcium mobilization

• Defects in protein phosphorylation (pleckstrin) PKC-y deficiency

• Abnormalities in arachidonic acid pathways and thromboxane

  • Cyclooxygenase deficiency

  • Thromboxane synthase deficiency

Defects in cytoskeletal regulation

• Wiskott-Aldrich syndrome

Disorders of platelet coagulant-protein interaction (membrane phospholipid defects)

• Scott syndrome

Miscellaneous