This website provides information on patients with mutations in the LAMP2 (Lysosomal Associated Membrane Protein 2) gene, including clinical data, molecular data, management and research options.

The syndrome caused by mutations in the LAMP2 gene is called Danon Disease and is a multisystem disorder characterized by a triad of hypertrophic cardiomyopathy, skeletal muscular dystrophy, and intellectual disability in males. Females are predominantly affected by cardiac disease. Both sexes may also experience cardiac conduction system disease and arrhythmias along with visual problems due to retinal pigmentopathy. Danon Disease is highly penetrant and there is a high risk of cardiac failure and a need for transplantation by the 3rd and 4th – 5th decades in males and females, respectively. Males appear to be uniformly severely affected whereas females have a much broader range of disease features, with some females being mildly affected into mid-adulthood.

This website was created to share and collect information about clinic, management and research projects to gather more knowledge and provide better treatment of patients with mutations in the LAMP2 gene.

Matthew R. G. Taylor, MD, PhD, University of Colorado Anschutz Medical Campus, Aurora, CO, USA,

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