Table 1.

Classification of inherited platelet disorders (modified from [8]).

Features	Platelet components with abnormalities	Disease
Abnormalities of the platelet receptors for adhesive proteins	GPIb-IX-V complex	Bernard-Soullier syndrome, platelet-type vWD
	GPIIb-IIIa (αIIbβ3)	Glanzmann thrombasthenia
	GPIa-IIa (α2β1)
	GPVI
Abnormalities of the platelet receptors for soluble agonists	P2Y12 receptor	P2Y12 receptor deficiency
	Thromboxane A2 receptor	Thromboxane A2 receptor deficiency
	α2-adrenergic receptor
Abnormalities of the platelet granules	δ-granules	Nonsyndromic δ-storage pool deficiency, Hermansky-Pudlak syndrome, Chediak-Higashi syndrome, MPR4 deficiency, thrombocytopenia with absent radii syndrome, Wiskott-Aldrich syndrome
	α-granules	Gray platelet syndrome, Quebec platelet disorder, 11q terminal deletion disorder, White platelet syndrome, Medich platelet disorder, X-linked macrothrombocytopenia with thalassemia, arthrogryposis renal dysfunction, and cholestasis syndrome
	α- and δ-granules	α, δ-storage pool deficiency
Defects of signal transduction	Arachinodate/thromboxane A2 pathway
	GTP binding proteins
	Phospholipase C activation
	Transcription factors
	GPVI/FcRc signaling
	Leukocyte adhesion deficiency-III
Abnormalities of membrane phospholipids	Membrane phospholipids	Scott syndrome, Stormorken syndrome
Miscellaneous abnormalities of platelet function	Primary secretion defects
	Others	Osteogenesis imperfecta, Ehlers-Danlos syndrome, Marfan syndrome, hexokinase deficiency, glucose-6-phosphate deficiency

Abbreviations: GP, glycoprotein; FcRc, Fc receptor; vWD, von Willebrand disease.