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
Brite
Human diseases in ICD-11 classification [BR:br08403]
11 Diseases of the circulatory system
Disorders of lymphatic vessels or lymph nodes
BD93 Lymphoedema
H01017 Choanal atresia and lymphedema
20 Developmental anomalies
Structural developmental anomalies primarily affecting one body system
Structural developmental anomalies of the respiratory system
LA70 Structural developmental anomalies of the nose or cavum
H01017 Choanal atresia and lymphedema
