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 > CoQ deficiency
CoQ deficiency
Alternative Names: Primary Coenzyme Q10 Deficiency; Ubiquinone Deficiency; Coenzyme Q Deficiency (Primary CoQ10 Deficiency)
Disease Category: Mitochondrial Disorders
A rare, inherited disorder characterized by deficiency of a protein called coenzyme Q10, or ubiquinone. Age of onset varies. Manifestations include: encephalomyopathy (severe brain disease combined with muscle weakness), ataxia (lack of coordination), seizures, spasticity (muscle rigidity), nystagmus (abnormal eye movements), vision loss, intellectual disability, hypotonia (low muscle tone), dystonia (involuntary movements), hypertrophic cardiomyopathy (heart muscle thickening), and nephrotic syndrome (kidney damage causing protein excretion in the urine).
Research groups studying this disease
Mitochondrial Disorders
North American Mitochondrial Disease Consortium (NAMDC)
MitoAction
Improves quality of life for people affected by mitochondrial disease through education, outreach, advocacy, and clinical research initiatives.
United Mitochondrial Disease Foundation
Promotes research and education for the diagnosis, treatment, and cure of mitochondrial disorders while providing support to those affected.