| H00504 | |
| H番号 | H00504 |
| 名称 | ルビンシュタイン・テイビ症候群 |
| 概要 | Rubinstein-Taybi syndrome (RSTS) is an autosomal dominant disorder with distinctive facial features, broad thumbs and toes, and mental retardation. Mutations in CREBBP and EP300 have been reported in the syndrome. |
| カテゴリ | 先天奇形 |
| ネットワーク | nt06523(H00504) Epigenetic regulation by Polycomb complexes |
| 病因遺伝子 | (RSTS1) CREBBP [HSA:1387] [KO:K04498] (RSTS2) EP300 [HSA:2033] [KO:K04498] |
| 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: Q87.2 MeSH: D012415 OMIM: 180849 613684 |
| 文献 | PMID:7630403 (CREBBP) 著者 Petrij F, Giles RH, Dauwerse HG, Saris JJ, Hennekam RC, Masuno M, Tommerup N, van Ommen GJ, Goodman RH, Peters DJ, et al. タイトル Rubinstein-Taybi syndrome caused by mutations in the transcriptional co-activator CBP. 雑誌 Nature 376:348-51 (1995) DOI:10.1038/376348a0 PMID:17220215 (EP300) 著者 Bartholdi D, Roelfsema JH, Papadia F, Breuning MH, Niedrist D, Hennekam RC, Schinzel A, Peters DJ タイトル Genetic heterogeneity in Rubinstein-Taybi syndrome: delineation of the phenotype of the first patients carrying mutations in EP300. 雑誌 J Med Genet 44:327-33 (2007) DOI:10.1136/jmg.2006.046698 PMID:16021471 著者 Bartsch O, Schmidt S, Richter M, Morlot S, Seemanova E, Wiebe G, Rasi S タイトル DNA sequencing of CREBBP demonstrates mutations in 56% of patients with Rubinstein-Taybi syndrome (RSTS) and in another patient with incomplete RSTS. 雑誌 Hum Genet 117:485-93 (2005) DOI:10.1007/s00439-005-1331-y PMID:17942008 著者 Roelfsema JH, Peters DJ タイトル Rubinstein-Taybi syndrome: clinical and molecular overview. 雑誌 Expert Rev Mol Med 9:1-16 (2007) DOI:10.1017/S1462399407000415 |