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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 > ALG8-congenital disorder of glycosylation

ALG8-congenital disorder of glycosylation (ALG8-CDG)

Alternative Names: Congenital Disorder Of Glycosylation Type Ih

Disease Category: Congenital Disorders of Glycosylation

A rare, inherited, multisystemic condition caused by mutations in the gene ALG8 disrupting protein glycosylation. Symptoms typically manifest in infancy, including diarrhea, vomiting, feeding problems with failure to thrive, protein-losing enteropathy (intestinal disease), edema (swelling), hepatomegaly (enlarged liver), renal tubulopathy (dysfunction of renal tubules), coagulation anomalies due to thrombocytopenia (low blood platelet count), psychomotor delay, seizures, ataxia (impaired balance or coordination), facial dysmorphism (abnormal difference in structure), pes equinovarus (club foot), hypotonia (low muscle tone), and cataracts (clouded eye lens).

Research groups studying this disease

Congenital Disorders of Glycosylation
FCDGC logo

Frontiers in Congenital Disorders of Glycosylation (FCDGC)

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