| H01284 | |
| H番号 | H01284 |
| 名称 | マリネスコ・シェーグレン症候群 |
| 概要 | Marinesco-Sjogren syndrome is an autosomal recessive multisystem disorder which is characterized by cerebellar ataxia, progressive myopathy and cataracts. Mutations in the endoplasmic reticulum associated co-chaperone SIL1/BAP were identified to be the major cause of this syndrome. |
| カテゴリ | 神経系疾患 |
| ネットワーク | - |
| 病因遺伝子 | SIL1 [HSA:64374] [KO:K14001] |
| 病原体 | - |
| 環境要因 | - |
| 発癌物質 | - |
| 治療薬 | - |
| コメント | - |
| リンク | ICD-11: 8C70.6 ICD-10: G11.1 MeSH: D013132 OMIM: 248800 |
| 文献 | PMID:22219183 著者 Howes J, Shimizu Y, Feige MJ, Hendershot LM タイトル C-terminal mutations destabilize SIL1/BAP and can cause Marinesco-Sjogren syndrome. 雑誌 J Biol Chem 287:8552-60 (2012) DOI:10.1074/jbc.M111.333286 PMID:16282978 著者 Anttonen AK, Mahjneh I, Hamalainen RH, Lagier-Tourenne C, Kopra O, Waris L, Anttonen M, Joensuu T, Kalimo H, Paetau A, Tranebjaerg L, Chaigne D, Koenig M, Eeg-Olofsson O, Udd B, Somer M, Somer H, Lehesjoki AE タイトル The gene disrupted in Marinesco-Sjogren syndrome encodes SIL1, an HSPA5 cochaperone. 雑誌 Nat Genet 37:1309-11 (2005) DOI:10.1038/ng1677 PMID:16282977 著者 Senderek J, Krieger M, Stendel C, Bergmann C, Moser M, Breitbach-Faller N, Rudnik-Schoneborn S, Blaschek A, Wolf NI, Harting I, North K, Smith J, Muntoni F, Brockington M, Quijano-Roy S, Renault F, Herrmann R, Hendershot LM, Schroder JM, Lochmuller H, Topaloglu H, Voit T, Weis J, Ebinger F, Zerres K タイトル Mutations in SIL1 cause Marinesco-Sjogren syndrome, a cerebellar ataxia with cataract and myopathy. 雑誌 Nat Genet 37:1312-4 (2005) DOI:10.1038/ng1678 |