Details of Disease | DrugMAP

General Information of Disease (ID: DIS7NHZL)

Disease Name	Lymphedema-posterior choanal atresia syndrome
Synonyms	CATLPH; choanal atresia and lymphedema
Disease Hierarchy	DISYKSRF: Genetic disease DISTQZJL: Lymphangioma DIS7NHZL: Lymphedema-posterior choanal atresia syndrome
Disease Identifiers	MONDO ID MONDO_0013324 UMLS CUI C3150875 OMIM ID 613611 MedGen ID 462225 Orphanet ID 99141 SNOMED CT ID 1204421005

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 2 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
PTPN14	TTNIR6C	moderate	Biomarker	[1]
PTPN14	TTNIR6C	Strong	Autosomal recessive	[2]
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This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
PTPN14	OTR0BMH1	Strong	Autosomal recessive	[2]
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References

1	Mutations in the VEGFR3 signaling pathway explain 36% of familial lymphedema.Mol Syndromol. 2013 Sep;4(6):257-66. doi: 10.1159/000354097. Epub 2013 Aug 21.
2	Protein tyrosine phosphatase PTPN14 is a regulator of lymphatic function and choanal development in humans. Am J Hum Genet. 2010 Sep 10;87(3):436-44. doi: 10.1016/j.ajhg.2010.08.008.