KEGG   DISEASE: 涙管欠損
エントリ  
H02514                                                             
名称    
涙管欠損
概要    
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.
カテゴリ  
先天奇形
階層分類  
ICD-11 による疾患分類 [BR:jp08403]
 20 発達異常
  主に1つの体系に影響する構造的発達異常
   眼, 眼瞼または涙器の構造的発達異常
    LA14  眼瞼, 涙器または眼窩の構造的発達異常
     H02514  涙管欠損
病因遺伝子 
IGSF3 [HSA:3321] [KO:K06522]
リンク   
ICD-11: LA14.14
MeSH: D007767
OMIM: 149700
文献    
  著者
Wang F, Tao H, Han C, Bai F, Wang P, Zhou XB, Wang LH, Liu C
  タイトル
Preliminary report on screening IGSF3 gene mutation in families with congenital absence of lacrimal puncta and canaliculi.
  雑誌
Int J Ophthalmol 13:1351-1355 (2020)
DOI:10.18240/ijo.2020.09.02
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