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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 > PIGN-Congenital Disorder Of Glycosylation

PIGN-Congenital Disorder Of Glycosylation (PIGN-CDG)

Alternative Names: Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome

Disease Category: Congenital Disorders of Glycosylation

A rare, multisystemic, inherited, glycosylphosphatidylinositol anchor defect disorder caused by a mutation in the gene PIGN disrupting protein glycosylation. Symptoms typically manifest in infancy, including global developmental delay, hypotonia (low muscle tone), seizures, facial dysmorphism (abnormal difference in structure), underdeveloped fingertips, gastrointestinal reflux, cerebellar atrophy (deterioration of neurons), small corpus callosum (the area of the brain that connects the two cerebral hemispheres), cerebral volume loss, abnormal or delayed myelination (the process of forming a myelin sheath around a nerve), congenital heart disease, renal anomalies, hepatosplenomegaly (enlargement of the liver and spleen), scoliosis (abnormal curvature of the spine), and abnormal movements.

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.