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Ehlers-Danlos syndrome, vascular type


Other Names for this Disease
  • EDS IV
  • EDS IV (formerly)
  • EDS type 4
  • EDS4 (formerly)
  • Ehlers Danlos syndrome, arterial type
Related Diseases
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Overview

Ehlers-Danlos syndrome vascular type is a connective tissue disease. Symptoms include thin, translucent skin, easy bruising, characteristic facial appearance, and fragile arteries, intestine, and/or uterus. It is inherited in an autosomal dominant manner and is caused by mutations in the COL3A1 gene.[1]
Last updated: 12/3/2009

References

  1. Pepin MG, Byers PH. Ehlers-Danlos syndrome, Vascular type. GeneReviews. 2006; http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=eds4#eds4.Molecular_Genetics. Accessed 7/21/2008.
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Basic Information

  • Genetics Home Reference (GHR) contains information on Ehlers-Danlos syndrome, vascular 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. You may need to register to view the medical textbook, but registration is free.
    Ehlers-Danlos Syndrome
    Genetics of Ehlers-Danlos Syndrome
  • MeSH® (Medical Subject Headings) is a terminology tool used by the National Library of Medicine. Click on the link to view information on this topic.
  • 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. 
  • 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, vascular type. Click on the link to view a sample search on this topic.
Other Names for this Disease
  • EDS IV
  • EDS IV (formerly)
  • EDS type 4
  • EDS4 (formerly)
  • Ehlers Danlos syndrome, arterial type
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.