Diseases Studied
The Rare Diseases Clinical Research Network is an NIH-funded research network of 20 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 > GMPPA-Congenital Disorder of Glycosylation
GMPPA-Congenital Disorder of Glycosylation (GMPPA-CDG)
Disease Category: Congenital Disorders of Glycosylation
A rare inherited condition caused by defective regulation of GMPPB, which leads to a deficiency in the production of an essential sugar molecule (GDP-Mannose). Symptoms manifest at birth or during infancy and include lack of tears (alacrima), difficulty in swallowing due to problems in the esophagus muscle (achalasia), and intellectual disability.
Research groups studying this disease
Congenital Disorders of Glycosylation
Frontiers in Congenital Disorders of Glycosylation (FCDGC)