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Diseases

Genetic and Rare Diseases Information Center (GARD)

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Ehlers-Danlos syndrome


Cause


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What causes Ehlers-Danlos syndrome?

Mutations in the ADAMTS2, COL1A1, COL1A2, COL3A1, COL5A1, COL5A2, PLOD1, and TNXB genes can cause Ehlers-Danlos syndrome, however in some cases the underlying genetic defect is not known.[1]

Mutations in these genes usually alter the structure, production, or processing of collagen or proteins that interact with collagen.[1] Collagen provides structure and strength to connective tissue throughout the body. A defect in collagen can weaken connective tissue in the skin, bones, blood vessels, and organs resulting in the features of the disorder.[1]

Last updated: 3/5/2012

References
  1. Ehlers-Danlos syndrome. Genetics Home Reference. 2006; http://ghr.nlm.nih.gov/condition=ehlersdanlossyndrome. Accessed 7/21/2008.