Orphanet: Congenital high molecular weight kininogen deficiency
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Congenital high-molecular-weight kininogen deficiency

Disease 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.

ORPHA:483

Classification level: Disorder
  • Synonym(s): -
  • Prevalence: -
  • Inheritance: Autosomal recessive 
  • Age of onset: -
  • ICD-10: D68.8
  • OMIM: 228960
  • UMLS: C0272340
  • MeSH: -
  • GARD: 2684
  • MedDRA: -
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