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 > COG5-congenital disorder of glycosylation
COG5-congenital disorder of glycosylation (COD5-CDG)
Alternative Names: congenital disorder of glycosylation type Iii; CDG2I
Disease Category: Congenital Disorders of Glycosylation
A rare inherited condition cause by pathogenic variants (mutations) in the COG5 gene, a gene that plays an important role in an important process in our cells called N-linked glycosylation. Symptoms of COG5-CDG usually present in infancy, and may include developmental delays, low muscle tone (hypotonia), seizures, feeding difficulties, liver dysfunction, and congenital malformations. To date, more than 15 individuals with COG5-CDG have been reported in the medical literature.
Research groups studying this disease
Congenital Disorders of Glycosylation
Frontiers in Congenital Disorders of Glycosylation (FCDGC)