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GTR Home > Conditions/Phenotypes > Platelet-type bleeding disorder 18

Platelet-type bleeding disorder 18

Summary

Bleeding disorder due to CalDAG-GEFI deficiency is 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. [from ORDO]

Available tests

17 tests are in the database for this condition.

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Clinical tests (17 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: CALDAG-GEFI, CDC25L, RASGRP2
    Summary: RAS guanyl releasing protein 2

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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