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 > 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
Frontiers in Congenital Disorders of Glycosylation (FCDGC)
CDG & Allies - PPAIN
A patient-led infrastructure for research, awareness, and education for Congenital Disorders of Glycosylation.