| H01207 | |
| H番号 | H01207 |
| 名称 | 三角頭蓋症 |
| 概要 | Trigonocephaly is a rare form of craniosynostosis characterized by the premature closure of the metopic suture. It has been reported that mutations in FGFR1 and FREM1 can be associated with trigonocephaly. |
| カテゴリ | 先天奇形 |
| ネットワーク | - |
| 病因遺伝子 | (TRIGNO1) FGFR1 [HSA:2260] [KO:K04362] (TRIGNO2) FREM1 [HSA:158326] [KO:K23380] |
| 病原体 | - |
| 環境要因 | - |
| 発癌物質 | - |
| 治療薬 | - |
| コメント | - |
| リンク | ICD-11: LB70.0Y ICD-10: Q75.0 MeSH: D003398 OMIM: 190440 614485 |
| 文献 | PMID:15185114 著者 Shimoji T, Tomiyama N タイトル Mild trigonocephaly and intracranial pressure: report of 56 patients. 雑誌 Childs Nerv Syst 20:749-56 (2004) DOI:10.1007/s00381-004-0970-y PMID:11173846 (FGFR1) 著者 Kress W, Petersen B, Collmann H, Grimm T タイトル An unusual FGFR1 mutation (fibroblast growth factor receptor 1 mutation) in a girl with non-syndromic trigonocephaly. 雑誌 Cytogenet Cell Genet 91:138-40 (2000) DOI:10.1159/000056834 PMID:21931569 (FREM1) 著者 Vissers LE, Cox TC, Maga AM, Short KM, Wiradjaja F, Janssen IM, Jehee F, Bertola D, Liu J, Yagnik G, Sekiguchi K, Kiyozumi D, van Bokhoven H, Marcelis C, Cunningham ML, Anderson PJ, Boyadjiev SA, Passos-Bueno MR, Veltman JA, Smyth I, Buckley MF, Roscioli T タイトル Heterozygous mutations of FREM1 are associated with an increased risk of isolated metopic craniosynostosis in humans and mice. 雑誌 PLoS Genet 7:e1002278 (2011) DOI:10.1371/journal.pgen.1002278 |