[MIM*187800] a hemorrhagic diathesis characterized by normal or prolonged bleeding time, normal coagulation time, defective clot retraction, and normal platelet count, but morphologic or functional abnormality of platelets; several different kinds of platelet abnormalities have been described; caused by defect in platelet membrane glycoprotein IIb-IIIa complex; autosomal recessive inheritance, caused by mutation in the platelet-membrane glycoprotein IIb-IIIa complex gene (ITGA2B) on chromosome 17. SYN: constitutional thrombopathy, Glanzmann disease, hereditary hemorrhagic thrombasthenia.
