| H00528 | |
| H番号 | H00528 |
| 名称 | 前頭鼻異形成 |
| 概要 | Frontonasal dysplasia is a rare developmental field defect with separation or clefting of the central portion of the face. Its basic characteristics include hypertelorism, a broad nose, or complete midline splitting of the nose. |
| カテゴリ | 先天奇形 |
| ネットワーク | - |
| 病因遺伝子 | (FND1) ALX3 [HSA:257] [KO:K09323] (FND2) ALX4 [HSA:60529] [KO:K09451] (FND3) ALX1 [HSA:8092] [KO:K09334] |
| 病原体 | - |
| 環境要因 | - |
| 発癌物質 | - |
| 治療薬 | - |
| コメント | - |
| リンク | ICD-11: LD25.3 ICD-10: Q75.8 MeSH: C538065 OMIM: 136760 613451 613456 |
| 文献 | PMID:21108387 著者 Brugmann SA, Cordero DR, Helms JA タイトル Craniofacial ciliopathies: A new classification for craniofacial disorders. 雑誌 Am J Med Genet A 152A:2995-3006 (2010) DOI:10.1002/ajmg.a.33727 PMID:21285785 著者 Allam KA, Wan DC, Kawamoto HK, Bradley JP, Sedano HO, Saied S タイトル The spectrum of median craniofacial dysplasia. 雑誌 Plast Reconstr Surg 127:812-21 (2011) DOI:10.1097/PRS.0b013e318200aa08 PMID:20451171 著者 Uz E, Alanay Y, Aktas D, Vargel I, Gucer S, Tuncbilek G, von Eggeling F, Yilmaz E, Deren O, Posorski N, Ozdag H, Liehr T, Balci S, Alikasifoglu M, Wollnik B, Akarsu NA タイトル Disruption of ALX1 causes extreme microphthalmia and severe facial clefting: expanding the spectrum of autosomal-recessive ALX-related frontonasal dysplasia. 雑誌 Am J Hum Genet 86:789-96 (2010) DOI:10.1016/j.ajhg.2010.04.002 PMID:19409524 著者 Twigg SR, Versnel SL, Nurnberg G, Lees MM, Bhat M, Hammond P, Hennekam RC, Hoogeboom AJ, Hurst JA, Johnson D, Robinson AA, Scambler PJ, Gerrelli D, Nurnberg P, Mathijssen IM, Wilkie AO タイトル Frontorhiny, a distinctive presentation of frontonasal dysplasia caused by recessive mutations in the ALX3 homeobox gene. 雑誌 Am J Hum Genet 84:698-705 (2009) DOI:10.1016/j.ajhg.2009.04.009 PMID:19692347 著者 Kayserili H, Uz E, Niessen C, Vargel I, Alanay Y, Tuncbilek G, Yigit G, Uyguner O, Candan S, Okur H, Kaygin S, Balci S, Mavili E, Alikasifoglu M, Haase I, Wollnik B, Akarsu NA タイトル ALX4 dysfunction disrupts craniofacial and epidermal development. 雑誌 Hum Mol Genet 18:4357-66 (2009) DOI:10.1093/hmg/ddp391 |