Danon Disease

Common Name(s)

Danon Disease

Danon disease 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 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.
 

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Condition Specific Organizations

Following organizations serve the condition "Danon Disease" for support, advocacy or research.

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Scientific Literature

Articles from the PubMed Database

Research articles describe the outcome of a single study. They are the published results of original research.
The terms "Danon Disease" returned 18 free, full-text research articles on human participants. First 3 results:

Psychiatric and cognitive characteristics of individuals with Danon disease (LAMP2 gene mutation).
 

Author(s): Maya Yardeni, Omri Weisman, Hanna Mandel, Ronnie Weinberger, Giovanni Quarta, Joel Salazar-Mendiguchía, Pablo Garcia-Pavia, Maria José Lobato-Rodríguez, Lourdes Fajardo Simon, Freimark Dov, Michael Arad, Doron Gothelf

Journal: Am. J. Med. Genet. A. 2017 Sep;173(9):2461-2466.

 

Danon disease (DD) is a rare X-linked disorder caused by loss-of-function mutations in the LAMP2 gene, which encodes lysosome-associated membrane protein. It is characterized by the triad of hypertrophic cardiomyopathy, myopathy, and intellectual disability. Whereas the molecular ...

Last Updated: 31 Dec 1969

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Hypertrophic Cardiomyopathy with Unusual Extensive Scarring Pattern: Danon Disease.
 

Author(s): Dan D Le, Paulino Alvarez, Roberto Barrios, Michael Arriaga, Mariyam Cherry, Dipan Shah, C Huie Lin

Journal: Methodist Debakey Cardiovasc J. ;12(4):227-229.

 

Last Updated: 31 Dec 1969

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Autophagy dysregulation in Danon disease.
 

Author(s): Anna Chiara Nascimbeni, Marina Fanin, Corrado Angelini, Marco Sandri

Journal:

 

The autophagy-lysosome system is critical for muscle homeostasis and defects in lysosomal function result in a number of inherited muscle diseases, generally referred to as autophagic vacuolar myopathies (AVMs). Among them, Danon Disease (DD) and glycogen storage disease type II (GSDII) ...

Last Updated: 31 Dec 1969

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Reviews from the PubMed Database

Review articles summarize what is currently known about a disease. They discuss research previously published by others.
The terms "Danon Disease" returned 4 free, full-text review articles on human participants. First 3 results:

Danon disease - dysregulation of autophagy in a multisystem disorder with cardiomyopathy.
 

Author(s): Teisha J Rowland, Mary E Sweet, Luisa Mestroni, Matthew R G Taylor

Journal: J. Cell. Sci.. 2016 06;129(11):2135-43.

 

Danon disease is a rare, severe X-linked form of cardiomyopathy caused by deficiency of lysosome-associated membrane protein 2 (LAMP-2). Other clinical manifestations include skeletal myopathy, cognitive defects and visual problems. Although individuals with Danon disease have been ...

Last Updated: 31 Dec 1969

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Danon disease: clinical features, evaluation, and management.
 

Author(s): Ryan S D'souza, Cecilia Levandowski, Dobromir Slavov, Sharon L Graw, Larry A Allen, Eric Adler, Luisa Mestroni, Matthew R G Taylor

Journal: Circ Heart Fail. 2014 Sep;7(5):843-9.

 

Last Updated: 31 Dec 1969

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Novel LAMP-2 mutation in a family with Danon disease presenting with hypertrophic cardiomyopathy.
 

Author(s): Nobuhiro Dougu, Shuji Joho, Lishen Shan, Takuya Shida, Akira Matsuki, Keiichiro Uese, Keiichi Hirono, Fukiko Ichida, Kortaro Tanaka, Ichizo Nishino, Hiroshi Inoue

Journal: Circ. J.. 2009 Feb;73(2):376-80.

 

Danon disease is an X-linked dominant multisystem disorder that includes hypertrophic cardiomyopathy with skeletal myopathy, and results from mutations in the gene encoding the lysosome-associated membrane protein-2 (LAMP-2). To date, over 20 different mutations in LAMP2 have been ...

Last Updated: 31 Dec 1969

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Clinical Trial Information This information is provided by ClinicalTrials.gov

There are currently no open clinical trials for this condition.