Skip to main content

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 GARDinfo@nih.gov.

All Diseases > SRD5A3-congenital disorder of glycosylation

SRD5A3-congenital disorder of glycosylation (SRD5A3-CDG)

Alternative Names: Congenital Disorder of Glycosylation Type Iq (CDG1Q); SRD5A3 deficiency

Disease Category: Congenital Disorders of Glycosylation

A rare, multisystemic, inherited condition affecting mainly the neurological system, caused by an abnormal enzyme disrupting N-linked glycosylation. Symptoms manifest in infancy, including balance and coordination problems (ataxia), hypotonia (low muscle tone), facial dysmorphism (abnormal difference in body structure), kyphosis (outward curvature of the spine), joint hypermobility, and cardiac, eye, and dermatological problems.

Research groups studying this disease

Congenital Disorders of Glycosylation
FCDGC logo

Frontiers in Congenital Disorders of Glycosylation (FCDGC)

Recruiting

The investigators are conducting a natural history study of patients with congenital disorders of glycosylation (CDG). The study will look into the progression of the disease amongst the participants and also look at the clinical symptoms and how they vary amongst different diseased population groups. The participants will be asked to fill out questionnaires either on their own or with a provider that will grade the severity of disease and document symptoms and diet. Participants will have an opportunity to submit blood, urine, and stool samples that will be tested for biomarkers for CDG. Participants will also complete dietary food records, physical exams, CDG scores, and the PROMIS questionnaires to assess disease progression and severity.

A patient-led infrastructure for research, awareness, and education for Congenital Disorders of Glycosylation.

Promotes awareness of congenital disorders of glycosylation (CDG) and NGLY1-deficiency, provides resources, and funds scientific research.

Connects patients and families affected by congenital disorders of glycosylation (CDG) to clinicians and researchers in Canada and globally.