Details of Disease | DrugMAP

General Information of Disease (ID: DISK5JE2)

Disease Name	Familial congenital nasolacrimal duct obstruction
Synonyms	LCDD; lacrimal duct defect; lacrimal puncta, absence of; nasolacrimal duct obstruction
Disease Hierarchy	DISUEW2W: Hereditary otorhinolaryngologic disease DISK5JE2: Familial congenital nasolacrimal duct obstruction
Disease Identifiers	MONDO ID MONDO_0007871 UMLS CUI C1835612 OMIM ID 149700 MedGen ID 332018 Orphanet ID 451612

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
IGSF3	OT6GWBAF	Supportive	Autosomal recessive	[1]
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References

1	Identification of an IGSF3 mutation in a family with congenital nasolacrimal duct obstruction. Clin Genet. 2014 Dec;86(6):589-91. doi: 10.1111/cge.12321. Epub 2013 Dec 27.