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