| H00458 | |
| H番号 | H00458 |
| 名称 | 症候性頭蓋縫合早期癒合症 |
| 概要 | Craniosynostosis is the premature fusion of the cranial sutures and secondary distortion of skull shape. Syndromic craniosynostosis typically involves cranial sutures plus central nervous system and extracranial skeletal changes. The genes most frequently mutated are FGFRs. |
| カテゴリ | 先天奇形 |
| ネットワーク | - |
| 病因遺伝子 | (Pfeiffer) FGFR1 [HSA:2260] [KO:K04362] (Apert, Pfeiffer, Crouzon, Jackson-Weiss, Beare-Stevenson, Antley-Bixler) FGFR2 [HSA:2263] [KO:K05093] (Muenke) FGFR3 [HSA:2261] [KO:K05094] (Saethre-Chotzen) TWIST1 [HSA:7291] [KO:K09069] (Antley-Bixler) POR [HSA:5447] [KO:K00327] (Carpenter) RAB23 [HSA:51715] [KO:K06234] (Craniofrontonasal) EFNB1 [HSA:1947] [KO:K05463] (Noonan) KRAS [HSA:3845] [KO:K07827] (Baller-Gerold) RECQL4 [HSA:9401] [KO:K10730] |
| 病原体 | - |
| 環境要因 | - |
| 発癌物質 | - |
| 治療薬 | - |
| コメント | - |
| リンク | ICD-11: LD24.G ICD-10: Q87 MeSH: D000168 D003398 D054882 OMIM: 101600 101200 123500 123150 123790 602849 612247 101400 207410 201750 201000 304110 609942 218600 123150 207410 |
| 文献 | PMID:21248745 著者 Johnson D, Wilkie AO タイトル Craniosynostosis. 雑誌 Eur J Hum Genet 19:369-76 (2011) DOI:10.1038/ejhg.2010.235 PMID:15828709 著者 Aleck K タイトル Craniosynostosis syndromes in the genomic era. 雑誌 Semin Pediatr Neurol 11:256-61 (2004) DOI:10.1016/j.spen.2004.10.005 PMID:23438589 著者 Fitzpatrick DR タイトル Filling in the gaps in cranial suture biology. 雑誌 Nat Genet 45:231-2 (2013) DOI:10.1038/ng.2557 PMID:26340333 著者 Twigg SR, Forecki J, Goos JA, Richardson IC, Hoogeboom AJ, van den Ouweland AM, Swagemakers SM, Lequin MH, Van Antwerp D, McGowan SJ, Westbury I, Miller KA, Wall SA, van der Spek PJ, Mathijssen IM, Pauws E, Merzdorf CS, Wilkie AO タイトル Gain-of-Function Mutations in ZIC1 Are Associated with Coronal Craniosynostosis and Learning Disability. 雑誌 Am J Hum Genet 97:378-88 (2015) DOI:10.1016/j.ajhg.2015.07.007 |