KEGG   DISEASE: 斑状角膜ジストロフィー
エントリ  
H00957                                                             
名称    
斑状角膜ジストロフィー
概要    
Fleck corneal dystrophy (FCD) is a rare corneal dystrophy characterized by multiple asymptomatic, non-progressive symmetric minute opacities disseminated throughout the corneal stroma. FCD does not affect vision and does not require treatment, but mild photophobia has been reported. Histopathology of the affected areas showed that the flecks correspond to areas of swollen keratocytes with cytoplasmic vesicles that contain lipids and mucopolysaccharides. FCD has been associated with mutations in the PIP5K3 gene encoding for an enzyme with a dual specificity that has both protein and lipid kinase activity.
カテゴリ  
神経系疾患
階層分類  
ICD-11 による疾患分類 [BR:jp08403]
 09 視覚系の疾患
  前眼部の疾患
   角膜の疾患
    9A70  遺伝性角膜ジストロフィ
     H00957  斑状角膜ジストロフィー
パスウェイ 
hsa00562  Inositol phosphate metabolism
hsa04070  Phosphatidylinositol signaling system
hsa04145  Phagosome
hsa04810  Regulation of actin cytoskeleton
病因遺伝子 
PIP5K3 [HSA:200576] [KO:K00921]
リンク   
ICD-11: 9A70.Y
MeSH: C563256
OMIM: 121850
文献    
  著者
Klintworth GK
  タイトル
Corneal dystrophies.
  雑誌
Orphanet J Rare Dis 4:7 (2009)
DOI:10.1186/1750-1172-4-7
文献    
  著者
Poulaki V, Colby K
  タイトル
Genetics of anterior and stromal corneal dystrophies.
  雑誌
Semin Ophthalmol 23:9-17 (2008)
DOI:10.1080/08820530701745173
LinkDB    

» English version

DBGET integrated database retrieval system