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Ehlers-Danlos syndrome vascular type


Other Names for this Disease

  • EDS IV (formerly)
  • EDS4 (formerly)
  • Ehlers Danlos syndrome, arterial type
  • Ehlers Danlos syndrome, ecchymotic type
  • Ehlers Danlos syndrome, Sack-Barabas type
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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. Click on the link to view this information. You may need to register to view the medical textbook, but registration is free.
  • 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.
  • The 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 (formerly)
  • EDS4 (formerly)
  • Ehlers Danlos syndrome, arterial type
  • Ehlers Danlos syndrome, ecchymotic type
  • Ehlers Danlos syndrome, Sack-Barabas type
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.