H00150 | |
H番号 | H00150 |
名称 | ダノン病 |
概要 | 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. |
カテゴリ | 先天性代謝異常症, ライソゾーム病 |
ネットワーク | - |
病因遺伝子 | LAMP2 [HSA:3920] [KO:K06528] |
病原体 | - |
環境要因 | - |
発癌物質 | - |
治療薬 | - |
コメント | - |
リンク | ICD-11: 5C51.3 ICD-10: E74.0 MeSH: D052120 OMIM: 300257 |
文献 | PMID:17027858 著者 Nishino I タイトル Autophagic vacuolar myopathy. 雑誌 Semin Pediatr Neurol 13:90-5 (2006) DOI:10.1016/j.spen.2006.06.004 PMID:18377432 著者 Yang Z, Vatta M タイトル Danon disease as a cause of autophagic vacuolar myopathy. 雑誌 Congenit Heart Dis 2:404-9 (2007) DOI:10.1111/j.1747-0803.2007.00132.x PMID:15673802 著者 Arad M, Maron BJ, Gorham JM, Johnson WH Jr, Saul JP, Perez-Atayde AR, Spirito P, Wright GB, Kanter RJ, Seidman CE, Seidman JG タイトル Glycogen storage diseases presenting as hypertrophic cardiomyopathy. 雑誌 N Engl J Med 352:362-72 (2005) DOI:10.1056/NEJMoa033349 |