Platelet-type bleeding disorder 18
Platelet-type bleeding disorder 18
Definition
A rare hematologic disease due to defective platelet function and characterized by mucocutaneous bleeding starting in infancy (around 18 months of age), presenting with prolonged and severe epistaxis, hematomas and bleeding after tooth extraction. Massive menorrhagia and chronic anemia have also been reported.
Also known as BDPLT18, bleeding disorder due to calcium- and DAG-regulated guanine exchange factor-1 deficiency, bleeding disorder due to CalDAG-GEFI deficiency, inherited bleeding disorder, platelet-type caused by mutation in RASGRP2, platelet-type bleeding disorder 18, RASGRP2 inherited bleeding disorder, platelet-type, RASGRP2-related platelet disorder — per MONDO