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 > ALG12-congenital disorder of glycosylation
ALG12-congenital disorder of glycosylation (ALG12-CDG)
Alternative Names: Congenital Disorder of Glycosylation Type Ig (CDG-1G or CDG1G)
Disease Category: Congenital Disorders of Glycosylation
A rare, inherited condition caused by a dysfunctional enzyme that cannot add mannose to proteins or fats. Symptoms manifest during infancy or early childhood, including failure to thrive, decreased muscle tone, developmental delay, intellectual disability, seizures, skeletal abnormalities, unusual facial features, sensorineural hearing loss (hearing loss caused by damage to the inner ear or the nerve from the ear to the brain), and heart muscle weakness.