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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Advocacy and Support Organizations

 

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 19 free, full-text research articles on human participants. First 3 results:

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: 19 Jan 2017

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Amelioration of X-Linked Related Autophagy Failure in Danon Disease With DNA Methylation Inhibitor.
 

Author(s): Kwong-Man Ng, Pamela Y Mok, Amy W Butler, Jenny C Y Ho, Shing-Wan Choi, Yee-Ki Lee, Wing-Hon Lai, Ka-Wing Au, Yee-Man Lau, Lai-Yung Wong, Miguel A Esteban, Chung-Wah Siu, Pak C Sham, Alan Colman, Hung-Fat Tse

Journal: Circulation. 2016 Nov;134(18):1373-1389.

 

Danon disease is an X-linked disorder that leads to fatal cardiomyopathy caused by a deficiency in lysosome-associated membrane protein-2 (LAMP2). In female patients, a later onset and less severe clinical phenotype have been attributed to the random inactivation of the X chromosome ...

Last Updated: 28 Sep 2016

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Lymphoma in Danon disease with chronic rhabdomyolysis treated with EPOCH-R: A case report.
 

Author(s): Edit Porpaczy, Marius Mayerhoefer, Ulrike Salzer-Muhar, Ulrich Jaeger

Journal: Medicine (Baltimore). 2016 Jul;95(29):e4237.

 

Rare disorders often represent a challenge for clinicians and require close collaboration of an interdisciplinary team.We present the complex case of a 22-year-old male with Danon disease and late-onset of posttransplant lymphoproliferative disorder after heart transplantation. The ...

Last Updated: 22 Jul 2016

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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 Jun;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: 2 Jun 2016

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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: 17 Sep 2014

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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: 23 Jan 2009

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Clinical Trial Information This information is provided by ClinicalTrials.gov

There are currently no open clinical trials for this condition.