| H01017 | |
| H number | H01017 |
| Name | Choanal atresia and lymphedema |
| Description | 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. |
| Category | Congenital malformation |
| Network | - |
| Gene | PTPN14 [HSA:5784] [KO:K18025] |
| Pathogen | - |
| Env factor | - |
| Carcinogen | - |
| Drug | - |
| Comment | - |
| Other DBs | ICD-11: LA70.2 BD93.0 ICD-10: Q82.0 MeSH: D002754 D008209 OMIM: 613611 |
| Reference | PMID:1872518 AUTHORS Har-El G, Borderon ML, Weiss MH TITLE Choanal atresia and lymphedema. JOURNAL Ann Otol Rhinol Laryngol 100:661-4 (1991) DOI:10.1177/000348949110000812 PMID:20826270 AUTHORS Au AC, Hernandez PA, Lieber E, Nadroo AM, Shen YM, Kelley KA, Gelb BD, Diaz GA TITLE Protein tyrosine phosphatase PTPN14 is a regulator of lymphatic function and choanal development in humans. JOURNAL Am J Hum Genet 87:436-44 (2010) DOI:10.1016/j.ajhg.2010.08.008 |