Choanal Atresia and Lymphedema (CATLPH)

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OMIM 56 613611 KEGG 36 H01017 MeSH 43 D002754 D008209 ICD10 via Orphanet 33 Q82.0

Orphanet 58 ORPHA99141 MedGen 41 C3150875 SNOMED-CT via HPO 68 204508009 234097001 258211005 27272007 30213001 373945007 more

KEGG : ³⁶ 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 chanal atresia is not clear but believed to be failure of the breakdown of the bucconasal membrane during embryogenesis.

MalaCards based summary : Choanal Atresia and Lymphedema, also known as catlph, is related to choanal atresia, posterior and hereditary lymphedema i. An important gene associated with Choanal Atresia and Lymphedema is PTPN14 (Protein Tyrosine Phosphatase Non-Receptor Type 14). Affiliated tissues include endothelial and skin, and related phenotypes are lymphedema and high palate

UniProtKB/Swiss-Prot : ⁷³ Choanal atresia and lymphedema: A disease characterized by posterior choanal atresia and lymphedema. Additional features are a high-arched palate, hypoplastic nipples, and mild pectus excavatum.

More information from OMIM: 613611

Clinical features from OMIM:

613611

Search Clinical Trials , NIH Clinical Center for Choanal Atresia and Lymphedema

Search GEO for disease gene expression data for Choanal Atresia and Lymphedema.