KEGG   DISEASE: Choanal atresia and lymphedema
Entry
H01017                      Disease                                
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
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
Gene
PTPN14 [HSA:5784] [KO:K18025]
Other DBs
ICD-11: LA70.2 BD93.0
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
Reference
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

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Disease (1)   
   OMIM (1)   
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