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platelet-type bleeding disorder 16

Disease Summary
Associated Targets (2)
Tclin

2


Mondo Description 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.
Uniprot Description An autosomal dominant form of congenital macrothrombocytopenia associated with platelet anisocytosis. It is a disorder of platelet production. Affected individuals may have no or only mildly increased bleeding tendency. In vitro studies show mild platelet functional abnormalities.
Mondo Term and Equivalent IDs
MONDO:0008552:  platelet-type bleeding disorder 16
MESH:C566061: 
UMLS:C1861195: