| H00064 | |
| H番号 | H00064 |
| 名称 | 毛細血管拡張性運動失調症 |
| 概要 | Ataxia-telangiectasia (AT) is an autosomal recessive disorder with a birth frequency of about 1 in 300 000. It is a progressive neurodegenerative disease associated with abnormal eye movements and cutaneous telangiectasia, immunodeficiency, and premature aging. The product of the causative gene ATM is a 350 kDa protein of the phosphatidylinositol 3-kinase family that is involved in mitogenic signal transduction, intracellular protein transport, and cell cycle control. |
| カテゴリ | 免疫系疾患; 神経系疾患 |
| ネットワーク | nt06506(H00064) Double-strand break repair |
| 病因遺伝子 | (AT) ATM [HSA:472] [KO:K04728] |
| 病原体 | - |
| 環境要因 | - |
| 発癌物質 | - |
| 治療薬 | - |
| コメント | Affected region: cerebellum Microscopic lesion: neuronal degeneration, particularly the loss of cerebellar granule and Purkinje cells |
| リンク | ICD-11: 4A01.31 ICD-10: G11.3 MeSH: D001260 OMIM: 208900 |
| 文献 | PMID:17889645 著者 Rass U, Ahel I, West SC. タイトル Defective DNA repair and neurodegenerative disease. 雑誌 Cell 130:991-1004 (2007) DOI:10.1016/j.cell.2007.08.043 PMID:15175861 著者 Ristow M. タイトル Neurodegenerative disorders associated with diabetes mellitus. 雑誌 J Mol Med 82:510-29 (2004) DOI:10.1007/s00109-004-0552-1 |