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plasminogen activator inhibitor-1 deficiency
Pathology:
- the bleeding defect is due to increased fibrinolysis of fibrin blood clots due to deficiency of plasminogen activator inhibitor-1, which inhibits tissue-type plasminogen activator & urokinase
Genetics:
- associated with defects in SERPINE1
Clinical manifestations:
- increased bleeding after trauma, injury, or surgery
- affected females have menorrhagia
Laboratory:
- SERPINE1 gene mutation
General
genetic disease of the blood/bone marrow
Database Correlations
OMIM 613329
References
OMIM :accession 613329