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Diseases

Genetic and Rare Diseases Information Center (GARD)

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Danon disease


Other Names for this Disease
  • Antopol disease
  • Glycogen storage cardiomyopathy
  • Glycogen storage disease limited to the heart
  • Glycogen storage disease type 2b (formerly)
  • GSD2B (formerly)
More Names
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Overview


Danon disease is a type of lysosomal storage disorder.[1] 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.[2][3][1] Danon disease is chiefly characterized by cardiomyopathy (heart disease), although other signs and symptoms may occur as well. Danon disease is inherited in an X-linked fashion, as a result males tend to be more severely affected than females. Females who carry the LAMP2 gene mutation may or may not develop signs and symptoms.
Last updated: 3/19/2010

References

  1. 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.
  2. Yang Z et al. Danon disease as an underrecognized cause of hypertrophic cardiomyopathy in children. Circulation. 2005;
  3. Maron BJ et al. Clinical outcome and phenotypic expression in LAMP2 cardiomyopathy. JAMA. 2009;
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Basic Information

In Depth Information

  • Medscape Reference provides information on this topic. Click on the link to view this information. You may need to register to view the medical textbook, but registration is free.
  • The Online Mendelian Inheritance in Man (OMIM) is an 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.

Selected Full-Text Journal Articles