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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)
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.

Overview

What is Danon disease?



What are the signs and symptoms of Danon disease?

What causes Danon disease?

How is Danon disease inherited?

What is Danon disease?

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

What are the signs and symptoms of Danon disease?

Danon disease is characterized by cardiomyopathy. Cardiomyopathy causes the heart muscle to enlarge or become thicker and more rigid than normal. This may make the heart less able to pump blood through the body and can cause serious complications, including sudden death. People with danon disease may also manifest with high levels of serum creatine kinase, eye/vision abnormalities, or Wolff-Parkinson-White syndrome.[2][3][1] Wolff-Parkinson-White syndrome is a condition characterized by abnormal electrical pathways in the heart that cause a disruption of the heart's normal rhythm (arrhythmia).

Men with Danon disease tend to develop cardiomyopathy prior to the age of 20,[2] and sometimes in early childhood. Women with Danon disease tend to develop cardiomyopathy later in adulthood,[2] however cases of cardiomyopathy in young girls have been reported in the medical literature.[3][1]  Some women who carry LAMP2 gene mutation never develop any or only very minor symptoms.[2][3][1]

The following additional signs and symptoms are variably present in people with Danon disease:[2][3][1]

Learning and development (primarily reported in males, however there has been at least one report of an affected female)

Mild intellectual ability
Mental retardation
Attention deficit disorder[2]

Skeletal muscle

Exercise intolerance
Muscle weakness

Eye and vision

Peripheral pigmentary retinopathy
Lens changes
Nearsightedness
Abnormal visual fields

Signs and symptoms of Danon disease can be very similar to those of hypertrophic cardiomyopathy, even though the underlying disease process differs. You can find detailed information on hypertrophic cardiomyopathy, which includes a brief description of Danon disease, by visiting the following link to GeneReviews.
http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=hyper-card

Last updated: 3/19/2010

What causes Danon disease?

Danon disease is caused by mutation in the LAMP2 gene. LAMP2 stands for “lysosomal-associated membrane protein 2.”[2][3][1]
Last updated: 3/19/2010

How is Danon disease inherited?

Dannon disease is inherited in an X-linked fashion. Click here to visit the Centre for Genetics Education Web site to learn more about X linked inheritance.
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;


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)
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.