Congenital high-molecular-weight kininogen deficiency

Orpha code: 483OMIM code: 228960

Definicja

A rare genetic hematologic disease characterized by abnormal surface-mediated activation of fibrinolysis due to the deficiency of high-molecular-weight kininogen in plasma. Activated partial thromboplastin time (aPTT) may be prolonged. Clinically, patients are typically asymptomatic and do not show increased bleeding or thrombotic tendency.

Disease data
Klasyfikacja

Disease

Kod ORPHA
483
Kod OMIM
228960
Kod ICD10
D68.8
Kod ICD11
-

No additional description.

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