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thrombophilia due to activated protein C resistance

The information provided on this page is for informational purposes only. The National Organization for Rare Disorders (NORD) does not endorse the information presented. The content has been gathered in partnership with the MONDO Disease Ontology. Please consult with a healthcare professional for medical advice and treatment.

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Disease Overview

A hemostatic disorder characterized by a poor anticoagulant response to activated protein C (APC). The activated form of Factor V (Factor Va) is more slowly degraded by activated protein C. Factor V Leiden mutation (R506Q) is the most common cause of APC resistance.

Synonyms

  • APC resistance
  • Activated Protein C resistance
  • Pccf deficiency
  • Proc cofactor deficiency
  • THPH2
  • resistance, APC
  • thrombophilia 2 due to activated protein C resistance
  • thrombophilia 5
  • thrombophilia due to ACTIVATED PROTEIN C resistance
  • thrombophilia due to Factor 5 Leiden
  • thrombophilia due to activated protein C resistance
  • thrombophilia due to deficiency of Activated Protein C cofactor
  • thrombophilia, susceptibility to, due to factor V Leiden
OMIM

Online Mendelian Inheritance In Man (OMIM) has a summary of published research about this condition and includes references from the medical literature. The summary contains medical and scientific terms, so we encourage you to share and discuss this information with your doctor. OMIM is authored and edited at the McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine.

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