| H01017 | |
| H番号 | H01017 |
| 名称 | 後鼻孔閉鎖症 および リンパ浮腫 |
| 概要 | Choanal atresia and lymphoedema is a rare congenital malformation caused by loss-of-function mutation in PTPN14 encoding a nonreceptor tyrosine phosphatase. PTPN14 has been shown to interact with the vascular endothelial growth factor receptor 3 (VEGFR3), a receptor tyrosine kinase that is essential for lymphangiogenesis. The mechanism responsible for the development of choanal atresia is not clear but believed to be failure of the breakdown of the bucconasal membrane during embryogenesis. |
| カテゴリ | 先天奇形 |
| ネットワーク | - |
| 病因遺伝子 | PTPN14 [HSA:5784] [KO:K18025] |
| 病原体 | - |
| 環境要因 | - |
| 発癌物質 | - |
| 治療薬 | - |
| コメント | - |
| リンク | ICD-11: LA70.2 BD93.0 ICD-10: Q82.0 MeSH: D002754 D008209 OMIM: 613611 |
| 文献 | PMID:1872518 著者 Har-El G, Borderon ML, Weiss MH タイトル Choanal atresia and lymphedema. 雑誌 Ann Otol Rhinol Laryngol 100:661-4 (1991) DOI:10.1177/000348949110000812 PMID:20826270 著者 Au AC, Hernandez PA, Lieber E, Nadroo AM, Shen YM, Kelley KA, Gelb BD, Diaz GA タイトル Protein tyrosine phosphatase PTPN14 is a regulator of lymphatic function and choanal development in humans. 雑誌 Am J Hum Genet 87:436-44 (2010) DOI:10.1016/j.ajhg.2010.08.008 |