Glycoprotein VI deficiency

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Disease Overview

Glycoprotein VI deficiency is a rare condition that decreases the body’s ability to form blood clots. As a result, affected people may experience frequent nosebleeds and abnormally heavy or prolonged bleeding following minor injury or surgery. Women with the condition often have heavy or prolonged menstrual periods. Glycoprotein VI deficiency can be caused by changes (mutations) in the GP6 gene and is inherited in an autosomal recessive manner. Some cases appear to be acquired (not caused by inherited gene mutations) and are often associated with autoimmune conditions. Treatment varies based on the severity of the condition and the associated signs and symptoms.[13688][13689][13690]


Synonyms

  • Bleeding diathesis due to glycoprotein VI deficiency
  • Platelet-type bleeding disorder-11
  • BDPLT11
  • Bleeding diathesis due to a collagen receptor defect
  • GP VI deficiency

For more information, visit GARD.

National Organization for Rare Disorders