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 > EDEM3-congenital disorder of glycosylation
EDEM3-congenital disorder of glycosylation (EDEM3-CDG)
Alternative Names: ER Degradation Enhancing Alpha-Mannosidase Like Protein 3
Disease Category: Congenital Disorders of Glycosylation
A rare, multisystemic, inherited condition caused by an abnormal protein which cannot effectively target misfolded glycoproteins. Symptoms manifest in infancy and childhood, including intellectual disability, developmental and speech delays, mild facial abnormalities, hypotonia (low muscle tone), behavioral problems, failure to thrive, and age-resolving central apnea.