KEGG   DISEASE: Lacrimal duct defect
Entry
H02514                      Disease                                
Name
Lacrimal duct defect
Description
Lacrimal duct defect (LCDD) is a congenital disease characterized by lacrimal duct partial absence or total lacrimal duct absence. LCDD is one of the causes of epiphora in infants and adolescents. Mutations in IGSF3 gene have been found in the patients with congenital absence of lacrimal puncta and canaliculi.
Category
Congenital malformation
Brite
Human diseases in ICD-11 classification [BR:br08403]
 20 Developmental anomalies
  Structural developmental anomalies primarily affecting one body system
   Structural developmental anomalies of the eye, eyelid or lacrimal apparatus
    LA14  Structural developmental anomalies of eyelid, lacrimal apparatus or orbit
     H02514  Lacrimal duct defect
Gene
IGSF3 [HSA:3321] [KO:K06522]
Other DBs
ICD-11: LA14.14
MeSH: D007767
OMIM: 149700
Reference
  Authors
Wang F, Tao H, Han C, Bai F, Wang P, Zhou XB, Wang LH, Liu C
  Title
Preliminary report on screening IGSF3 gene mutation in families with congenital absence of lacrimal puncta and canaliculi.
  Journal
Int J Ophthalmol 13:1351-1355 (2020)
DOI:10.18240/ijo.2020.09.02
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