Diseases Studied
The Rare Diseases Clinical Research Network is an NIH-funded research network of 21 active consortia or research groups working to advance treatment for diseases that are rare. Use the search tools on this page to find the diseases we currently study. You can reach out to the indicated consortia or research groups for more information on those diseases and studies underway.
This network focuses on clinical research and does not generally support clinical care outside of research activities. To learn about other rare diseases, please visit the Genetic and Rare Diseases Information Center (GARD), which is an NIH program that helps the public find reliable information about rare and genetic diseases. Their staff are specialists. Contact them at 1-888-205-2311 or email GARDinfo@nih.gov.
All Diseases > Extracranial arteriovenous malformations
Extracranial arteriovenous malformations
Disease Category: Vascular Anomalies
Extra cranial Arterial venous Malformations (eAVM) are AVMs that are not in the brain or spine. They can be on the head and neck, extremities, or other organs and can cause significant bleeding, alteration, heart failure, and pain. These are abnormal connections between the arteries and the veins that our cause by germline or somatic mutations mostly of the Ras pathway.
Research groups studying this disease
Vascular Anomalies
Advancing Rare Disorders: Vascular mAlformation Research Network with CaNVAS (ARDVARC)