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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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mutations in the PROC gene and inherited in an autosomal dominant fashion.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
Last updated: 9/20/2011
- Protein C deficiency. Genetics Home Reference. October 2009; http://ghr.nlm.nih.gov/condition=proteincdeficiency. Accessed 9/20/2011.
- Genetics Home Reference (GHR) contains information on Protein C deficiency. This website is maintained by the National Library of Medicine.
- MedlinePlus was designed by the National Library of Medicine to help you research your health questions, and it provides more information about this topic. Click on the link to view this information.
- LabTests Online provides information on testing protein C levels in general. Click on LabTests Online to view the information page.
In Depth 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.
- 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.
- Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.
- 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.