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 > PGAP3-congenital disorder of glycosylation
PGAP3-congenital disorder of glycosylation (PGAP3-CDG)
Alternative Names: Post-GPI Attachment to Proteins Phospholipase 3 Deficiency or Hyperphosphatasia with Mental Retardation Syndrome 4
Disease Category: Congenital Disorders of Glycosylation
PGAP3-congenital disorder of glycosylation (PGAP3-CDG) is also known as post-GPI attachment to proteins phospholipase 3 deficiency or hyperphosphatasia with mental retardation syndrome 4. It is a rare genetic disease grouped with other disorders disrupting Glycosylphosphatidylinositol (GPI-) anchor synthesis. It is characterized by intellectual disability and increased levels of an enzyme called alkaline phosphatase (AP) in the blood (hyperphosphatasia).