KEGG   DISEASE: 先天性遺伝性扁平角膜
エントリ  
H01029                                                             
名称    
先天性遺伝性扁平角膜
概要    
Cornea plana congenita is a rare hereditary anomaly in which the normal protrusion of the cornea from the sclera is missing. Clinical features include hyperopia, slight microcornea, an extended limbus zone, and arcus lipoides seen even before the age of 20. Cornea plana congenita occurs in a mild autosomal dominant (CNA1) and a more severe autosomal recessive (CNA2) form. CNA2 has a high prevalence in the Finnish population due to strong founder effect.
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
    LA11  前眼部の構造的発達異常
     H01029  先天性遺伝性扁平角膜
病因遺伝子 
(CNA2) KERA [HSA:11081] [KO:K08123]
リンク   
ICD-11: LA11.1
OMIM: 217300 121400
文献    
PMID:8929947
  著者
Tahvanainen E, Forsius H, Kolehmainen J, Damsten M, Fellman J, de la Chapelle A
  タイトル
The genetics of cornea plana congenita.
  雑誌
J Med Genet 33:116-9 (1996)
DOI:10.1136/jmg.33.2.116
文献    
PMID:9591953
  著者
Forsius H, Damsten M, Eriksson AW, Fellman J, Lindh S, Tahvanainen E
  タイトル
Autosomal recessive cornea plana. A clinical and genetic study of 78 cases in Finland.
  雑誌
Acta Ophthalmol Scand 76:196-203 (1998)
DOI:10.1034/j.1600-0420.1998.760215.x
文献    
PMID:9228241
  著者
Sigler-Villanueva A, Tahvanainen E, Lindh S, Dieguez-Lucena J, Forsius H
  タイトル
Autosomal dominant cornea plana: clinical findings in a Cuban family and a review of the literature.
  雑誌
Ophthalmic Genet 18:55-62 (1997)
DOI:10.3109/13816819709057116
文献    
  著者
Pellegata NS, Dieguez-Lucena JL, Joensuu T, Lau S, Montgomery KT, Krahe R, Kivela T, Kucherlapati R, Forsius H, de la Chapelle A
  タイトル
Mutations in KERA, encoding keratocan, cause cornea plana.
  雑誌
Nat Genet 25:91-5 (2000)
DOI:10.1038/75664
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