Congenital high-molecular-weight kininogen deficiency

Definition

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

Classification

Disease

ORPHA code

483

OMIM code

228960

ICD10 code

D68.8

ICD11 code

*Soruce