| H00509 | |
| H番号 | H00509 |
| 名称 | 3M 症候群 |
| 概要 | The 3M syndrome is an autosomal recessive disorder characterized by pre- and postnatal growth retardation. It is caused by mutations in CUL7 and OBSL1. |
| カテゴリ | 先天奇形 |
| ネットワーク | - |
| 病因遺伝子 | (3M1) CUL7 [HSA:9820] [KO:K10613] (3M2) OBSL1 [HSA:23363] [KO:K19574] (3M3) CCDC8 [HSA:83987] [KO:K17561] |
| 病原体 | - |
| 環境要因 | - |
| 発癌物質 | - |
| 治療薬 | - |
| コメント | - |
| リンク | ICD-11: LD24.D ICD-10: Q87.1 MeSH: C535314 OMIM: 273750 612921 614205 |
| 文献 | PMID:21396581 著者 Huber C, Munnich A, Cormier-Daire V タイトル The 3M syndrome. 雑誌 Best Pract Res Clin Endocrinol Metab 25:143-51 (2011) DOI:10.1016/j.beem.2010.08.015 PMID:19225462 (CUL7) 著者 Huber C, Delezoide AL, Guimiot F, Baumann C, Malan V, Le Merrer M, Da Silva DB, Bonneau D, Chatelain P, Chu C, Clark R, Cox H, Edery P, Edouard T, Fano V, Gibson K, Gillessen-Kaesbach G, Giovannucci-Uzielli ML, Graul-Neumann LM, van Hagen JM, van Hest L, Horovitz D, Melki J, Partsch CJ, Plauchu H, Rajab A, Rossi M, Sillence D, Steichen-Gersdorf E, Stewart H, Unger S, Zenker M, Munnich A, Cormier-Daire V タイトル A large-scale mutation search reveals genetic heterogeneity in 3M syndrome. 雑誌 Eur J Hum Genet 17:395-400 (2009) DOI:10.1038/ejhg.2008.200 PMID:19481195 (OBSL1) 著者 Hanson D, Murray PG, Sud A, Temtamy SA, Aglan M, Superti-Furga A, Holder SE, Urquhart J, Hilton E, Manson FD, Scambler P, Black GC, Clayton PE タイトル The primordial growth disorder 3-M syndrome connects ubiquitination to the cytoskeletal adaptor OBSL1. 雑誌 Am J Hum Genet 84:801-6 (2009) DOI:10.1016/j.ajhg.2009.04.021 PMID:21737058 (CCDC8) 著者 Hanson D, Murray PG, O'Sullivan J, Urquhart J, Daly S, Bhaskar SS, Biesecker LG, Skae M, Smith C, Cole T, Kirk J, Chandler K, Kingston H, Donnai D, Clayton PE, Black GC タイトル Exome sequencing identifies CCDC8 mutations in 3-M syndrome, suggesting that CCDC8 contributes in a pathway with CUL7 and OBSL1 to control human growth. 雑誌 Am J Hum Genet 89:148-53 (2011) DOI:10.1016/j.ajhg.2011.05.028 |