/platelet-type bleeding disorder 16

platelet-type bleeding disorder 16

Rare Disease

MONDO:0008552

Also Known As

autosomal dominant Glanzmann thrombastheniaautosomal dominant thrombasthenia of Glanzmann and Naegelibleeding disorder, platelet-type, 16, autosomal dominantplatelet-type bleeding disorder 16BDPLT16Glanzmann thrombasthenia, autosomal dominantbleeding disorder, platelet-type, 16thrombasthenia of Glanzmann and Naegeli, autosomal dominant

Definition

An inherited blood coagulation disease characterized by autosomal dominant inheritance with macrothrombocytopenia, platelet anisocytosis, prolonged bleeding time but only mildly increased bleeding tendency that has material basis in heterozygous mutation in the ITGA2B gene on chromosome 17q21.31 or the ITGB3 gene on chromosome 17q21.32.