| H00631 | |
| H番号 | H00631 |
| 名称 | コルネリア・デランゲ症候群 |
| 概要 | Cornelia de Lange syndrome (CdLS) is a heterogeneous developmental disorder characterized by facial dysmorphia, upper limb defects, hirsutism, and gastrointestinal abnormalities. About 65% of patients harbor mutations in genes that encode subunits or regulators of the cohesin complex, including NIPBL, SMC1A, SMC3, RAD21, and HDAC8. |
| カテゴリ | 先天奇形 |
| ネットワーク | nt06512 Chromosome cohesion and segregation |
| 病因遺伝子 | (CDLS1) NIPBL [HSA:25836] [KO:K06672] (CDLS2) SMC1A [HSA:8243] [KO:K06636] (CDLS3) SMC3 [HSA:9126] [KO:K06669] (CDLS4) RAD21 [HSA:5885] [KO:K06670] (CDLS5) HDAC8 [HSA:55869] [KO:K11405] |
| 病原体 | - |
| 環境要因 | - |
| 発癌物質 | - |
| 治療薬 | - |
| コメント | - |
| リンク | ICD-11: LD2F.1Y ICD-10: Q87.1 MeSH: D003635 OMIM: 122470 300590 610759 614701 300882 |
| 文献 | PMID:19793304 著者 Liu J, Krantz ID タイトル Cornelia de Lange syndrome, cohesin, and beyond. 雑誌 Clin Genet 76:303-14 (2009) DOI:10.1111/j.1399-0004.2009.01271.x PMID:20727427 (NIPBL) 著者 Ratajska M, Wierzba J, Pehlivan D, Xia Z, Brundage EK, Cheung SW, Stankiewicz P, Lupski JR, Limon J タイトル Cornelia de Lange syndrome case due to genomic rearrangements including NIPBL. 雑誌 Eur J Med Genet 53:378-82 (2010) DOI:10.1016/j.ejmg.2010.08.002 PMID:19842212 (SMC1A) 著者 Mannini L, Liu J, Krantz ID, Musio A タイトル Spectrum and consequences of SMC1A mutations: the unexpected involvement of a core component of cohesin in human disease. 雑誌 Hum Mutat 31:5-10 (2010) DOI:10.1002/humu.21129 PMID:18996922 (SMC1A, SMC3) 著者 Revenkova E, Focarelli ML, Susani L, Paulis M, Bassi MT, Mannini L, Frattini A, Delia D, Krantz I, Vezzoni P, Jessberger R, Musio A タイトル Cornelia de Lange syndrome mutations in SMC1A or SMC3 affect binding to DNA. 雑誌 Hum Mol Genet 18:418-27 (2009) DOI:10.1093/hmg/ddn369 PMID:22633399 (RAD21) 著者 Deardorff MA, Wilde JJ, Albrecht M, Dickinson E, Tennstedt S, Braunholz D, Monnich M, Yan Y, Xu W, Gil-Rodriguez MC, Clark D, Hakonarson H, Halbach S, Michelis LD, Rampuria A, Rossier E, Spranger S, Van Maldergem L, Lynch SA, Gillessen-Kaesbach G, Ludecke HJ, Ramsay RG, McKay MJ, Krantz ID, Xu H, Horsfield JA, Kaiser FJ タイトル RAD21 mutations cause a human cohesinopathy. 雑誌 Am J Hum Genet 90:1014-27 (2012) DOI:10.1016/j.ajhg.2012.04.019 PMID:22885700 (HDAC8) 著者 Deardorff MA, Bando M, Nakato R, Watrin E, Itoh T, Minamino M, Saitoh K, Komata M, Katou Y, Clark D, Cole KE, De Baere E, Decroos C, Di Donato N, Ernst S, Francey LJ, Gyftodimou Y, Hirashima K, Hullings M, Ishikawa Y, Jaulin C, Kaur M, Kiyono T, Lombardi PM, Magnaghi-Jaulin L, Mortier GR, Nozaki N, Petersen MB, Seimiya H, Siu VM, Suzuki Y, Takagaki K, Wilde JJ, Willems PJ, Prigent C, Gillessen-Kaesbach G, Christianson DW, Kaiser FJ, Jackson LG, Hirota T, Krantz ID, Shirahige K タイトル HDAC8 mutations in Cornelia de Lange syndrome affect the cohesin acetylation cycle. 雑誌 Nature 489:313-7 (2012) DOI:10.1038/nature11316 |