Diseases Studied
The Rare Diseases Clinical Research Network is an NIH-funded research network of 21 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 > STT3A-congenital disorder of glycosylation
STT3A-congenital disorder of glycosylation (STT3A-CDG)
Alternative Names: Congenital Disorder of Glycosylation Iw; CDG Type Iw (CDG-1W or CDG1W); STT3A deficiency
Disease Category: Congenital Disorders of Glycosylation
A rare, multisystemic, inherited condition affecting mainly the neurological system, caused by deficiency of the catalytic subunit of the oligosaccharide protein complex needed for sugar chain transfer to proteins in the endoplasmic reticulum. Symptoms manifest in infancy for the autosomal recessive form and include seizures, developmental delay, and bleeding and clotting problems. In the autosomal dominant form symptoms are more variable but include variable intellectual disability, dysmorphic features, short stature, abnormal bone development, and muscle cramps.