Other Names for this Disease
- Vacuolar cardiomyopathy and myopathy X-linked
- X-linked vacuolar cardiomyopathy and myopathy
- Antopol disease
- Pseudoglycogenosis 2
- Glycogen storage disease limited to the heart
cardiomyopathy), weakening of the muscles used for movement (skeletal muscles myopathy), and intellectual disability. This condition is a type of lysosomal storage disorder. Lysosomes are compartments within the cell that use enzymes to break down large molecules into smaller ones that the cell can use. In Danon disease there is a defect in the wall (membrane) of the lysosome. The defect is caused by mutations in the LAMP2 gene. Danon disease is inherited in an X-linked dominant pattern. As a result, males tend to be more severely affected than females and develop symptoms at a younger age. Treatment is aimed at addressing the symptoms present in each individual and may require a team of specialists.Danon disease is a rare genetic condition characterized by weakening of the heart muscle (
Last updated: 7/12/2016
- Danon disease. Genetics Home Reference (GHR). March 2015; https://ghr.nlm.nih.gov/condition/danon-disease.
- Taylor MRG, D'souza R. Danon disease. National Organization for Rare Disorders (NORD). 2015; http://rarediseases.org/rare-diseases/danon-disease/.
- Danon disease. Online Mendelian Inheritance in Man. March 19, 2010; http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300257. Accessed 1/1/2008.
- Medscape Reference provides information on this topic. You may need to register to view the medical textbook, but registration is free.
- The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
- Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine.
- Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.
- PubMed is a searchable database of medical literature and lists journal articles that discuss Danon disease. Click on the link to view a sample search on this topic.
- Maron BJ, Roberts WC, Arad M, Haas TS, Spirito P, Wright GB, Almquist AK, Baffa JM, Saul JP, Ho CY, Seidman J, Seidman CE. Clinical outcome and phenotypic expression in LAMP2 cardiomyopathy. JAMA. 2009 Mar 25;301(12):1253-9.
- Yang Z, McMahon CJ, Smith LR, Bersola J, Adesina AM, Breinholt JP, Kearney DL, Dreyer WJ, Denfield SW, Price JF, Grenier M, Kertesz NJ, Clunie SK, Fernbach SD, Southern JF, Berger S, Towbin JA, Bowles KR, Bowles NE. Danon disease as an underrecognized cause of hypertrophic cardiomyopathy in children.Circulation. 2005 Sep 13;112(11):1612-7. Epub 2005 Sep 6.