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Diseases

Genetic and Rare Diseases Information Center (GARD)

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Protein C deficiency

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* Not a rare disease
Other Names for this Disease
  • Hereditary thrombophilia due to protein C deficiency
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Your Question

Is protein C deficiency inherited from your mother or father?

Our Answer

We have identified the following information that we hope you find helpful. If you still have questions, please contact us.

What is protein C deficiency?

Protein C deficiency is a disorder of blood clotting. People with this condition have an increased risk of developing abnormal blood clots. Protein C is found in the bloodstream and blocks the activity of (inactivates) certain proteins that promote blood clotting. Those with protein C deficiency do not have enough functional protein C to inactivate clotting proteins, which results in an increased risk of developing abnormal blood clots. Other factors can raise the risk of abnormal blood clots in people with mild protein C deficiency. These factors include increasing age, surgery, immobility, or pregnancy. The combination of protein C deficiency and other inherited disorders of blood clotting can also influence the risk. However, most people with mild protein C deficiency never develop abnormal blood clots. Protein C deficiency can be inherited or acquired. Inherited forms are caused by mutations in the PROC gene and inherited in an autosomal dominant fashion.[1]
Last updated: 9/20/2011

What causes protein C deficiency?

Protein C deficiency can be either inherited or acquired. Acquired protein C deficiency may be caused by large blood clots, liver disease, disseminated intravascular coagulation (DIC), infection (sepsis), and vitamin K deficiency. Treatment with warfarin or certain types of chemotherapy can also cause acquired protein C deficiency.[2]

Hereditary protein C deficiency is caused by mutations in the gene that provides instructions for making protein C, called the PROC gene. These mutations disrupt the protein's ability to control blood clotting. If protein C cannot control blood clotting, abnormal blood clots may form.[1]
Last updated: 9/20/2011

How is protein C deficiency inherited?

Hereditary protein C deficiency is inherited in an autosomal dominant pattern, which means one altered copy of the PROC gene in each cell is sufficient to cause mild protein C deficiency. The altered copy of the PROC gene can be inherited from either parent. Individuals who inherit two altered copies of this gene have severe protein C deficiency.[1]
Last updated: 9/20/2011

References