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Diseases

Genetic and Rare Diseases Information Center (GARD)

Ehlers-Danlos syndrome


Cause

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What causes Ehlers-Danlos syndrome?

Ehlers-Danlos syndrome can be caused by changes (mutations) in several different genes (COL5A1, COL5A2, COL1A1, COL3A1, TNXB, PLOD1, COL1A2, and ADAMTS2). However, the underlying genetic cause is unknown in some families.[1]

Mutations in these genes usually alter the structure, production, and/or processing of collagen or proteins that interact with collagen. Collagen provides structure and strength to connective tissues throughout the body. A defect in collagen can weaken connective tissues in the skin, bones, blood vessels, and organs resulting in the features of the disorder.[2]
Last updated: 5/21/2015

References
  1. Defendi GL. Genetics of Ehlers-Danlos Syndrome. Medscape Reference. October 15, 2013; http://emedicine.medscape.com/article/943567-overview.
  2. Ehlers-Danlos syndrome. Genetics Home Reference. May 2006; http://ghr.nlm.nih.gov/condition=ehlersdanlossyndrome. Accessed 5/27/2015.


Other Names for this Disease
  • ED syndrome
  • EDS
  • Ehlers Danlos syndrome
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