KEGG   DISEASE: 膠様滴状角膜ジストロフィー
エントリ  
H00953                                                             
名称    
膠様滴状角膜ジストロフィー;
角膜アミロイド症
概要    
Gelatinous drop-like corneal dystrophy (GDCD) is a rare autosomal recessive dystrophy characterized by multiple prominent milky-white gelatinous mulberry-shaped nodules formed beneath the corneal epithelium during the first decade of life. Clinical symptoms include photophobia, foreign body sensation, and decreased vision. Fusiform deposits similar to those in lattice corneal dystrophy [DS:H00956] may also form in the deeper stroma. GDCD has been linked to mutations in the TACSTD2 gene. TACSTD2 is a cell surface phosphoglycoprotein as well as a substrate for protein kinase C. Mutations in the gene lead to a truncated protein which is thought to trigger amyloid formation in the cornea.
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
     H00953  膠様滴状角膜ジストロフィー
指定難病 [jp08407.html]
 H00953
病因遺伝子 
TACSTD2 [HSA:4070] [KO:K17288]
リンク   
ICD-11: 9A70.Y
MeSH: C535480
OMIM: 204870
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
文献    
  著者
Pieramici SF, Afshari NA
  タイトル
Genetics of corneal dystrophies: the evolving landscape.
  雑誌
Curr Opin Ophthalmol 17:361-6 (2006)
DOI:10.1097/01.icu.0000233955.94347.84
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