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 GARDinfo@nih.gov.
All Diseases > ATP6AP1-Congenital Disorder Of Glycosylation
ATP6AP1-Congenital Disorder Of Glycosylation (ATP6AP1-CDG)
Alternative Names: Congenital Disorder Of Glycosylation Type Iis
Disease Category: Congenital Disorders of Glycosylation
A rare, multisystemic, X-linked disorder caused by a mutation in the gene ATP6AP1 disrupting protein glycosylation. Symptoms typically manifest in infancy, including liver dysfunction, immunodeficiency (impaired immune system), developmental delay, hearing loss, seizure, dystonia (abnormal body movement), loose skin, gastrointestinal issues, hematological (blood) abnormalities, urinary and genital defects, facial dysmorphism (abnormal difference in structure), and congenital heart defects.