Ehlers-Danlos syndrome vascular type
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Ehlers-Danlos syndrome type 4 is a connective tissue disease. Symptoms include thin, translucent skin, easy bruising, characteristic facial appearance, and fragile arteries, intestine, and/or uterus. Complications of this syndrome can be life threatening, particularly that of sudden arterial rupture, gastrointestinal perforation, or organ ruptures. It is inherited in an autosomal dominant manner and is caused by mutations in the COL3A1 gene.[1]
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- More Detailed Information (Found: 10 Resources)
Links where you can find more general information, comprehensive resources, selected full text journal articles, and news updates
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eMedicine 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
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The Genetic Alliance is an international coalition comprised of more than 600 advocacy, research and health care organizations representing millions of individuals with genetic conditions. Click on the link to view information on this topic.
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Genetics Home Reference (GHR) contains a condition summary on Ehlers-Danlos syndrome vascular type. Click on the link to go to GHR and review this summary.
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MedlinePlus, a Web site designed by the National Library of Medicine Web site to help you research your health questions, provides more information about this topic. Click on the link to view this information.
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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.
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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.
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The Online Mendelian Inheritance in Man (OMIM) database contains genetics resources that discuss Ehlers-Danlos syndrome vascular type. Click on the link to go to OMIM and review these resources.
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Orphanet is a database dedicated to information on rare diseases and orphan drugs. Access to this database is free of charge. Click on the link to read information on this topic.
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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.
- Management Guidelines
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GeneReviews provides current, expert-authored, peer-reviewed, full-text articles describing the application of genetic testing to the diagnosis, management, and genetic counseling of patients with specific inherited conditions. Click on the link to view the article on this topic.
- Support Groups (Found: 10 Resources)
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The National Organization of Rare Disorders (NORD) has partnered with Inspire.com to launch an online community for people with rare diseases called The NORD Rare Disease Community. This community connects medical patients, family members, caregivers, and professionals. Click on The NORD Rare Disease Community to learn more.
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RareShare is an online social hub dedicated to patients, families and healthcare professionals affected by rare medical disorders. Click on RareShare to learn more.
- Clinical Trials & Research (Found: 2 Resources)
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CRISP is a searchable database of federally funded biomedical research projects conducted at universities, hospitals, and other research institutions. Although these projects may not conduct studies on humans, you may want to contact the investigators to learn more. To search for studies click on the link and enter the disease name in the enter search terms box and click the and button below the box. Then click Submit Query.
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The U.S. National Institutes of Health, through the National Library of Medicine, developed ClinicalTrials.gov to provide patients, family members, and members of the public with current information on clinical research studies. There is a study titled Manifestations of Heritable Disorders of Connective Tissue which may be of interest to you. To find this trial, click on the link above.
- Services (Found: 1 Resource)
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We recommend that you discuss this information and your concerns with a genetics professional. The following online resources can help you find a genetics professional in your community:
* GeneClinics - A searchable directory of US and international genetics and prenatal diagnosis clinics. To locate genetics clinics in the United States, go to the following link and click on 'Clinic Directory' to find a genetic service close to you.
* ResourceLink - A database of genetics counseling services, searchable by location, name, institution, type of practice, or specialty. Hosted by the National Society of Genetic Counselors.
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The NLM Gateway allows users to search across multiple resources offered on the National Library of Medicine's Web site. Some of these resources may be duplicated in the list of links above. Click on the link to go to the NLM Gateway, and search by condition name.