Diseases Studied
The Rare Diseases Clinical Research Network is an NIH-funded research network of 19 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 > GMPPB-congenital disorder of glycosylation
GMPPB-congenital disorder of glycosylation (GMPPB-CDG)
Disease Category: Congenital Disorders of Glycosylation
A rare genetic condition caused by mutation (aka pathogenic variants) in the GMPPB gene. The GMPPB gene gives our bodies instructions to make a protein called Guanosine diphosphate-mannose pyrophosphorylase B (GMPPB), which plays an important role in glycosylation. Pathogenic variants in GMPPB cause this protein to not work properly, leading to GMPPB-CDG, a genetic condition affecting many different parts of the body. Pathogenic variants in GMPPB have also been associated with neuromuscular disorders including muscular dystrophy and congenital myasthenic syndromes.
Research groups studying this disease
Congenital Disorders of Glycosylation
Frontiers in Congenital Disorders of Glycosylation (FCDGC)