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.
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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
Frontiers in Congenital Disorders of Glycosylation (FCDGC)
CDG Canada
Connects patients and families affected by congenital disorders of glycosylation (CDG) to clinicians and researchers in Canada and globally.
CDG CARE (Community Alliance and Resource Exchange)
Promotes awareness of congenital disorders of glycosylation (CDG) and NGLY1-deficiency, provides resources, and funds scientific research.
CDG & Allies - PPAIN
A patient-led infrastructure for research, awareness, and education for Congenital Disorders of Glycosylation.