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Platelet-type bleeding disorder 18
rareA 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.
- Identifiers
- MONDO:0014386 OMIM:615888Orphanet:420566
- Causal genes
- RASGRP2
- 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 · RASGRP2 inherited bleeding disorder, platelet-type
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