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* Not a rare disease
Protein C deficiency
* Not a rare disease
Other Names for this Disease
- Hereditary thrombophilia due to protein C deficiency
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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.
- Protein C deficiency. Genetics Home Reference. http://ghr.nlm.nih.gov/condition=proteincdeficiency. Accessed September 20, 2011.
On this page
- Clot Connect, an education and outreach project lead by health care providers at the University of North Carolina at Chapel Hill, has information for patients and healthcare professionals.
- Genetics Home Reference (GHR) contains information on Protein C deficiency. Click on the link to go to GHR and review the information.
- MedlinePlus, a Web site designed by the National Library of Medicine to help you research your health questions, provides more information about this topic. Click on the link to view this information.
- Medscape Reference provides information on this topic. Click on the link to view this information. You may need to register to view the medical textbook, but registration is free.
- Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge. Click on the link to read information on this topic.
- LabTests Online provides information on testing protein C levels in general. Click on LabTests Online to view the information page.
- PubMed is a searchable database of medical literature and lists journal articles that discuss Protein C deficiency. Click on the link to view a sample search on this topic.
- The The Online Mendelian Inheritance in Man (OMIM) database contains genetics resources that discuss Protein C deficiency. Click on the link to go to OMIM and review these resources.