| Contact us | |
| Return to database |
Prevalence (%) of clinical parameters based on data from 4 references describing 54 individuals
Add new symptom/sign to this disease
| Pubmed id number as a reference | Organ system affected | ||
| Number of patients in the reference | Percent affected patients (Between 0 and 1, eg. 0.1 = 10%) | ||
| Please provide your name and contact information as a reference | |||
| Name | Institute | Phone number | Email address |
List of symptoms
| Symptom/sign | Organ system | Percent affected | Pubmed id | Added on(yyyy-mm-dd) | Edit/add reference |
| Cardiomyopathy | circulatory | 100 % | 12084876 | 2011-10-19 | |
| Cardiomyopathy | circulatory | 100 % | 19318653 | 2011-10-10 | |
| Retinitis pigmentosa | nervous | 100 % | 16751040 | 2011-10-10 | |
| Cardiomyopathy | circulatory | 100 % | 17899313 | 2011-10-10 | |
| Myopathy | skeletal | 100 % | 17899313 | 2011-10-10 | |
| Muscle weakness | skeletal | 100 % | 17899313 | 2011-10-10 | |
| Developmental delay | nervous | 100 % | 17899313 | 2011-10-10 | |
| Cardiac arrhythmia | circulatory | 75 % | 17899313 | 2011-10-10 | |
| Increased blood CK | circulatory | 71 % | 19318653 | 2011-10-10 | |
| Myopathy | skeletal | 63 % | 12084876 | 2011-10-10 | |
| Retinitis pigmentosa | nervous | 50 % | 17899313 | 2011-10-10 | |
| Mental retardation | nervous | 39 % | 12084876 | 2011-10-10 |
List of references:
Clinicopathological features of genetically confirmed Danon disease.
K Sugie, A Yamamoto, K Murayama, S J Oh, M Takahashi, M Mora, J E Riggs, J Colomer, C Iturriaga, A Meloni, C Lamperti, S Saitoh, E Byrne, S DiMauro, I Nonaka, M Hirano, I Nishino,
Neurology - Jun 2002
Clinical outcome and phenotypic expression in LAMP2 cardiomyopathy.
Barry J Maron, William C Roberts, Michael Arad, Tammy S Haas, Paolo Spirito, Gregory B Wright, Adrian K Almquist, Jeanne M Baffa, J Philip Saul, Carolyn Y Ho, Jonathan Seidman, Christine E Seidman,
JAMA - Mar 2009
Ophthalmic manifestations of Danon disease.
F Ryan Prall, Arlene Drack, Matthew Taylor, Lisa Ku, Jeffrey L Olson, Darren Gregory, Luisa Mestroni, Naresh Mandava,
Ophthalmology - Jun 2006
Danon disease presenting with dilated cardiomyopathy and a complex phenotype.
Matthew R G Taylor, Lisa Ku, Dobromir Slavov, Jean Cavanaugh, Mark Boucek, Xiao Zhu, Sharon Graw, Elisa Carniel, Carl Barnes, Dianna Quan, Ryan Prall, Mark A Lovell, Gary Mierau, Patsy Ruegg, Naresh Mandava, Michael R Bristow, Jeffrey A Towbin, Luisa Mestroni, ,
Journal of human genetics - 2007