Your browser does not support javascript:   Search for gard hereSearch for news-and-events here.

Diseases

Genetic and Rare Diseases Information Center (GARD)

Print friendly version

Ehlers-Danlos syndrome hypermobility type

Información en español

Other Names for this Disease
  • Benign joint hypermobility syndrome
  • BJHS
  • EDS III
  • EDS3 (formerly)
  • Ehlers-Danlos syndrome type 3
Related Diseases
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.

Cause

Newline Maker

What causes Ehlers-Danlos syndrome hypermobility type?

Although Ehlers-Danlos syndrome (EDS) hypermobility type is thought to be a genetic condition, the exact underlying cause is unknown in most cases.[1]

A small percentage of people with this condition have a change (mutation) in the TNXB gene. In these cases, elastic skin, easy bruising and other hematologic (blood) manifestations are generally not observed. Mutations in the TNXB gene cause a reduction in the levels of a protein called tenascin-X in the body. Researchers believe that reduced levels of tenascin-X disturb the way that collagen is deposited and disrupt the network of elastic fibers in joint ligaments and tendons.[1][2]
Last updated: 5/25/2015

References
  1. Levy HP. Ehlers-Danlos Syndrome, Hypermobility Type. GeneReviews. September 13, 2012; http://www.ncbi.nlm.nih.gov/books/NBK1279/.
  2. TNXB. Genetics Home Reference (GHR). May 2006; http://ghr.nlm.nih.gov/gene/TNXB.


Other Names for this Disease
  • Benign joint hypermobility syndrome
  • BJHS
  • EDS III
  • EDS3 (formerly)
  • Ehlers-Danlos syndrome type 3
Related Diseases
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.