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 > Barth Syndrome
Alternative Names: X-Linked Endocardial Fibroelastosis (X-Linked EFE); Endocardial Fibroelastosis, Type 2 (EFE2); X-Linked Cardioskeletal Myopathy and Neutropenia; 3-Methylglutaconic Aciduria, Type II (MGA Type II); Cardioskeletal Myopathy, Barth Type; Cardioskeletal Myopathy with Neutropenia and Abnormal Mitochondria
Disease Category: Mitochondrial Disorders
A rare, X-linked (X chromosome genetic mutation), inherited disorder affecting primarily males with variable age of onset. It is characterized by heart dysfunction and low white blood cell counts. Endocardial fibroelastosis (buildup of connective tissues and elastin fibers) causes hypertrophic cardiomyopathy (increased heart muscle thickness). Symptoms and signs include irregular heartbeat, fatigue, muscle weakness, heart failure, shortness of breath, frequent infections, exercise intolerance, distinctive facial features, growth delay, and learning disability.
Research groups studying this disease
North American Mitochondrial Disease Consortium (NAMDC)View Disease Definition
Promotes research and education for the diagnosis, treatment, and cure of mitochondrial disorders while providing support to those affected.
Improves quality of life for people affected by mitochondrial disease through education, outreach, advocacy, and clinical research initiatives.