KEGG   DISEASE: 角膜輪状類皮
エントリ  
H01149                      Disease                                
名称    
角膜輪状類皮
概要    
The ring dermoid of the cornea (RDC) is an autosomal dominantly inherited syndrome characterised by bilateral annular limbal dermoids with corneal and conjunctival extension. A mutation in PITX2 has been identified in the individuals affected by the RDC. PITX2 encodes a homeodomain transcription factor required for normal development of multiple organs, including eye, heart, and pituitary.
カテゴリ  
新生物
階層分類  
ICD-11 による疾患分類 [BR:jp08403]
 02 腫瘍
  良性腫瘍, ただしリンパ, 造血, 中枢神経系または関連組織を除く
   間葉由来以外の良性腫瘍
    2F36  眼または眼球付属器の良性腫瘍
     H01149  角膜輪状類皮
パスウェイ 
hsa04350  TGF-beta signaling pathway
病因遺伝子 
PITX2 [HSA:5308] [KO:K04686]
リンク   
ICD-11: 2F36.Y
MeSH: C535684
OMIM: 180550
文献    
  著者
Xia K, Wu L, Liu X, Xi X, Liang D, Zheng D, Cai F, Pan Q, Long Z, Dai H, Hu Z, Tang B, Zhang Z, Xia J
  タイトル
Mutation in PITX2 is associated with ring dermoid of the cornea.
  雑誌
J Med Genet 41:e129 (2004)
DOI:10.1136/jmg.2004.022434
文献    
  著者
Doerdelmann T, Kojetin DJ, Baird-Titus JM, Solt LA, Burris TP, Rance M
  タイトル
Structural and biophysical insights into the ligand-free Pitx2 homeodomain and a ring dermoid of the cornea inducing homeodomain mutant.
  雑誌
Biochemistry 51:665-76 (2012)
DOI:10.1021/bi201639x
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