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Quebec platelet disorder

Synonyms
BLEEDING DISORDER, PLATELET-TYPE, 5; Factor V Quebec
Modes of inheritance
Autosomal dominant inheritance (Orphanet)

Summary

Quebec platelet disorder is an autosomal dominant bleeding disorder due to a gain-of-function defect in fibrinolysis. Although affected individuals do not exhibit systemic fibrinolysis, they show delayed onset bleeding after challenge, such as surgery. The hallmark of the disorder is markedly increased PLAU levels within platelets, which causes intraplatelet plasmin generation and secondary degradation of alpha-granule proteins. The disorder shows a favorable therapeutic response to fibrinolytic inhibitors (summary by Diamandis et al., 2009). [from OMIM]

Available tests

15 tests are in the database for this condition.

Check Related conditions for additional relevant tests.

Clinical tests (15 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: ATF, BDPLT5, QPD, UPA, URK, u-PA, PLAU
    Summary: plasminogen activator, urokinase

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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