| H00064 | |
| H number | H00064 |
| Name | Ataxia telangiectasia; Louis-Bar syndrome; Boder-Sedgwick syndrome |
| Description | 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. |
| Category | Immune system disease; Nervous system disease |
| Network | nt06506(H00064) Double-strand break repair |
| Gene | (AT) ATM [HSA:472] [KO:K04728] |
| Pathogen | - |
| Env factor | - |
| Carcinogen | - |
| Drug | - |
| Comment | Affected region: cerebellum Microscopic lesion: neuronal degeneration, particularly the loss of cerebellar granule and Purkinje cells |
| Other DBs | ICD-11: 4A01.31 ICD-10: G11.3 MeSH: D001260 OMIM: 208900 |
| Reference | PMID:17889645 AUTHORS Rass U, Ahel I, West SC. TITLE Defective DNA repair and neurodegenerative disease. JOURNAL Cell 130:991-1004 (2007) DOI:10.1016/j.cell.2007.08.043 PMID:15175861 AUTHORS Ristow M. TITLE Neurodegenerative disorders associated with diabetes mellitus. JOURNAL J Mol Med 82:510-29 (2004) DOI:10.1007/s00109-004-0552-1 |