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Ehlers-Danlos syndrome, classic type


Other Names for this Disease

  • Classic Ehlers-Danlos syndrome
  • Ehlers-Danlos syndrome type 1 (formerly)
  • Ehlers-Danlos syndrome type 2 (formerly)
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.

Overview

Ehlers-Danlos syndrome (EDS), classic type, is an inherited connective tissue disorder characterized by skin hyperextensibility, abnormal wound healing, and joint hypermobility. The classic type is made up of two previously designated subtypes (EDS type I and EDS type II) which represent a continuum of clinical features. About 50% of people with EDS, classic type have mutations in COL5A1 or COL5A2, two genes which encode type V collagen. The condition is inherited in an autosomal dominant manner.[1]
Last updated: 6/15/2011

References

  1. Wenstrup R, De Paepe A. Ehlers-Danlos Syndrome, Classic Type. GeneReviews. May 11, 2010; http://www.ncbi.nlm.nih.gov/books/NBK1244/. Accessed 6/15/2011.
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Basic Information

  • Genetics Home Reference (GHR) contains information on Ehlers-Danlos syndrome, classic type. This website is maintained by the National Library of Medicine.
  • MedlinePlus was designed by the National Library of Medicine to help you research your health questions, and it provides more information about this topic.
  • The National Organization for Rare Disorders (NORD) is a federation of more than 130 nonprofit voluntary health organizations serving people with rare disorders. Click on the link to view information on this topic.

In Depth Information

  • Medscape Reference provides information on this topic. Click on the link to view this information. You may need to register to view the medical textbook, but registration is free.
  • Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine. 
    http://www.ncbi.nlm.nih.gov/omim/130000
    http://www.ncbi.nlm.nih.gov/omim/130010
  • Orphanet is a European reference portal for information on rare diseases and orphan drugs.  Access to this database is free of charge.
  • PubMed is a searchable database of medical literature and lists journal articles that discuss Ehlers-Danlos syndrome, classic type. Click on the link to view a sample search on this topic.
Other Names for this Disease
  • Classic Ehlers-Danlos syndrome
  • Ehlers-Danlos syndrome type 1 (formerly)
  • Ehlers-Danlos syndrome type 2 (formerly)
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.