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GTR Home > Conditions/Phenotypes > Bleeding disorder, platelet-type, 21

Bleeding disorder, platelet-type, 21

Summary

BDPLT21 is a hematologic disorder characterized by increased risk of bleeding resulting from a functional platelet defect. Platelets have decreased or even absent dense bodies and abnormally enlarged and fused alpha-granules, and they show defective secretion and aggregation responses to agonists. Platelets are usually enlarged, and some patients may have mild to moderate thrombocytopenia (summary by Saultier et al., 2017). [from OMIM]

Available tests

17 tests are in the database for this condition.

Clinical tests (17 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: BDPLT21, EWSR2, FLI-1, SIC-1, FLI1
    Summary: Fli-1 proto-oncogene, ETS transcription factor

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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