Inherited abnormalities of platelet glycoproteins.
Glanzmann's thrombasthenia and the Bernard-Soulier syndrome are inherited blood disorders characterized by abnormalities in different aspects of platelet function during haemostasis. Platelets from patients with thrombasthenia do not aggregate in response to the normal physiological platelet aggregation inducing stimuli, while Bernard-Soulier platelet have a reduced capacity to adhere to exposed subendothelium. Deficiencies of different membrane glycoproteins have been located in the platelets of both disorders and suggest specific roles for membrane glycoproteins in different aspects of platelet function.
D001778:Blood Coagulation Disorders / Q000235:genetics; D001792:Blood Platelets / Q000032:analysis*; D002462:Cell Membrane / Q000032:analysis; D006023:Glycoproteins / Q000097:blood* / Q000235:genetics; D006801:Humans; D008565:Membrane Proteins / Q000097:blood* / Q000235:genetics; D010973:Platelet Adhesiveness; D010980:Platelet Membrane Glycoproteins; D011693:Purpura / Q000235:genetics; D013921:Thrombocytopenia / Q000235:genetics
D006023:Glycoproteins; D008565:Membrane Proteins; D010980:Platelet Membrane Glycoproteins