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Quebec platelet disorder
Pathology:
- bleeding disorder due to a gain-of-function defect in fibrinolysis
- markedly increased platelet PLAU levels causes intraplatelet plasmin generation & secondary degradation of alpha-granule proteins
Genetics:
- autosomal dominant
- associated with defects in PLAU (urokinase)
Clinical manifestations:
- delayed onset bleeding after challenge, such as surgery
- no systemic fibrinolysis
Laboratory:
- markedly increased platelet PLAU levels
Related
urokinase; urokinase-type plasminogen activator; U-plasminogen activator; uPA (PLAU)
General
platelet disorder; thromboasthenia
enzyme deficiency
genetic disease of the blood/bone marrow
Database Correlations
OMIM 601709
References
OMIM :accession 601709