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GTR Home > Conditions/Phenotypes > Platelet-type bleeding disorder 19

Platelet-type bleeding disorder 19

Summary

A rare isolated hereditary giant platelet disorder characterized by severe thrombocytopenia and thrombopathy due to defects in proplatelet formation and platelet activation in homozygous patients. Clinical manifestation are recurrent bleeding episodes including epistaxis, spontaneous hematomas, and menorrhagia. [from ORDO]

Available tests

21 tests are in the database for this condition.

Check Related conditions for additional relevant tests.

Clinical tests (21 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: BDPLT19, KAPG, PKACg, PRKACG
    Summary: protein kinase cAMP-activated catalytic subunit gamma

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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