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 > 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.
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.