" /> Plasminogen activator inhibitor-1 deficiency - CISMeF





Preferred Label : Plasminogen activator inhibitor-1 deficiency;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Hyperfibrinolysis due to pai1 deficiency;

Description : Plasminogen inhibitor-1 deficiency is a rare autosomal recessive hematologic disorder characterized by increased bleeding after trauma, injury, or surgery. Affected females have menorrhagia. The bleeding defect is due to increased fibrinolysis of fibrin blood clots due to deficiency of PAI1, which inhibits tissue (PLAT; 173370) and urinary (PLAU; 191840) activators of plasminogen (PLG; 173350) (review by Mehta and Shapiro, 2008).;

Inheritance : Autosomal recessive; Autosomal dominant;

Molecular basis : Caused by mutation in the serpin peptidase inhibitor, clade E, member 1 gene (SERPINE1, 173360.0001);

Prefixed ID : #613329;

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27/07/2025


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