H00150 | |
H number | H00150 |
Name | Danon disease; X-linked vacuolar cardiomyopathy and myopathy |
Description | Danon disease is an X-linked disorder caused by deficiency of lysosomal-associated membrane protein Lamp2 and resulting in cardiomyopathy, myopathy, and mental retardation. Originally Danon disease was classificatied as a variant of glycogen storage disease II (Pompe disease). However, at present, it is considered that Danon disease is not a glycogen storage disease because the disease is caused by the primary deficiency of a lysosomal membrane protein instead of a glycolytic enzyme and detailed pathological features are different from those of Pompe disease. |
Category | Inherited metabolic disorder, Lysosomal disease |
Network | - |
Gene | LAMP2 [HSA:3920] [KO:K06528] |
Pathogen | - |
Env factor | - |
Carcinogen | - |
Drug | - |
Comment | - |
Other DBs | ICD-11: 5C51.3 ICD-10: E74.0 MeSH: D052120 OMIM: 300257 |
Reference | PMID:17027858 AUTHORS Nishino I TITLE Autophagic vacuolar myopathy. JOURNAL Semin Pediatr Neurol 13:90-5 (2006) DOI:10.1016/j.spen.2006.06.004 PMID:18377432 AUTHORS Yang Z, Vatta M TITLE Danon disease as a cause of autophagic vacuolar myopathy. JOURNAL Congenit Heart Dis 2:404-9 (2007) DOI:10.1111/j.1747-0803.2007.00132.x PMID:15673802 AUTHORS Arad M, Maron BJ, Gorham JM, Johnson WH Jr, Saul JP, Perez-Atayde AR, Spirito P, Wright GB, Kanter RJ, Seidman CE, Seidman JG TITLE Glycogen storage diseases presenting as hypertrophic cardiomyopathy. JOURNAL N Engl J Med 352:362-72 (2005) DOI:10.1056/NEJMoa033349 |