Glanzmann thrombasthenia 1

Glanzmann thrombasthenia-1 (GT1) is an autosomal recessive bleeding disorder characterized by failure of platelet aggregation and by absent or diminished clot retraction. The abnormalities are related to quantitative or qualitative abnormalities of the GPIIb/IIIa (ITGB3; 173470) platelet surface fibrinogen receptor complex resulting from mutations in the GPIIb gene (Rosenberg et al., 1997). Genetic Heterogeneity of Glanzmann Thrombasthenia See Glanzmann thrombasthenia-2 (GT2; 619267), caused by mutation the ITGB3 gene (173470) on chromosome 17q21.32. See review by Botero et al. (2020). [from OMIM]