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Diseases

Genetic and Rare Diseases Information Center (GARD)

Protein C deficiency

*

* Not a rare disease

Other Names for this Disease
  • Hereditary thrombophilia due to protein C deficiency
  • Hereditary thrombophilia due to congenital protein C deficiency
  • Hereditary thrombophilia due to PC deficiency
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Inheritance

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How is protein C deficiency inherited?

Protein C deficiency can be hereditary or acquired. Most cases of hereditary protein C deficiency are inherited in an autosomal dominant manner. This means that having only one mutated copy of the responsible gene in each cell (allele) is enough to cause mild protein C deficiency, although some may not have any symptoms. A mutated copy of the gene can be inherited from a person's mother or father.[1][11633] 

People who inherit two mutated copies of the gene, one copy from each parent (autosomal recessive protein C deficiency) may have severe protein C deficiency.[11633] These few cases are inherited in an autosomal recessive way. 
Last updated: 8/6/2015

References
  1. Protein C deficiency. Genetics Home Reference. May, 2013; http://ghr.nlm.nih.gov/condition/protein-c-deficiency.


Other Names for this Disease
  • Hereditary thrombophilia due to protein C deficiency
  • Hereditary thrombophilia due to congenital protein C deficiency
  • Hereditary thrombophilia due to PC deficiency
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.