What is the role of genetics in the etiology of von Willebrand disease (vWD)?

Updated: Dec 30, 2019
  • Author: Eleanor S Pollak, MD; Chief Editor: Srikanth Nagalla, MBBS, MS, FACP  more...
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Answer

In the great majority of cases, vWD is an inherited condition. The vWF gene is located near the tip of the short arm of chromosome 12. The gene is composed of 52 exons and spans a total of 180kb of the human genome; therefore, it is similar in size to the FVIII gene. Expression of the vWF gene is restricted to megakaryocytes, endothelial cells, and, possibly, placental syncytiotrophoblasts. A partial, nonfunctional duplication (pseudogene) is present on chromosome 22.


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