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

Cone-rod dystrophy can be a manifestation of Danon disease.
 

Author(s): Alberta A H J Thiadens, Niki W R Slingerland, Ralph J Florijn, Gerhard H Visser, Frans C Riemslag, Caroline C W Klaver

Journal: Graefes Arch. Clin. Exp. Ophthalmol.. 2012 May;250(5):769-74.

 

Danon disease is a neuromuscular disorder with variable expression in the eye. We describe a family with Danon disease and cone-rod dystrophy (CRD).

Last Updated: 1 Jun 2012

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A phenocopy of sarcomeric hypertrophic cardiomyopathy: LAMP2 cardiomyopathy (Danon disease) from China.
 

Author(s): Barry J Maron

Journal: Eur. Heart J.. 2012 Mar;33(5):570-2.

 

Last Updated: 2 Mar 2012

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Danon disease as a cause of concentric left ventricular hypertrophy in patients who underwent endomyocardial biopsy.
 

Author(s): Zhongwei Cheng, Quancai Cui, Zhuang Tian, Hongzhi Xie, Lianfeng Chen, Ligang Fang, Kongbo Zhu, Quan Fang

Journal: Eur. Heart J.. 2012 Mar;33(5):649-56.

 

Danon disease is an X-linked dominant disorder; concentric left ventricular hypertrophy (LVH) is one of its manifestations. In this study, we investigated the prevalence of Danon disease in patients with concentric LVH who underwent endomyocardial biopsy (EMB).

Last Updated: 2 Mar 2012

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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 1 free, full-text review articles on human participants. First 3 results:

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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Symptoms, Diagnosis, and Treatment

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Clinical Trial Information This information is provided by ClinicalTrials.gov

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