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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

All Diseases > MAN2B2-Congenital Disorder of Glycosylation

MAN2B2-Congenital Disorder of Glycosylation (MAN2B2-CDG)

Alternative Names: MAN2B2 Deficiency

Disease Category: Congenital Disorders of Glycosylation

A rare, inherited condition caused by abnormal proteins disrupting glycosylation. In the single reported case, symptoms manifested in infancy, including recurrent infections, vasculitis, arthritis, thrombotic stroke, chronic diarrhea, cardiac and eye abnormalities, facial dysmorphism (abnormal difference in structure), speech and developmental delays, hepatomegaly (enlarged liver), and pectus carinatum (protruding breastbone).

Research groups studying this disease

Congenital Disorders of Glycosylation
FCDGC logo

Frontiers in Congenital Disorders of Glycosylation (FCDGC)

Connects patients and families affected by congenital disorders of glycosylation (CDG) to clinicians and researchers in Canada and globally.

Promotes awareness of congenital disorders of glycosylation (CDG) and NGLY1-deficiency, provides resources, and funds scientific research.

A patient-led infrastructure for research, awareness, and education for Congenital Disorders of Glycosylation.