KEGG   DISEASE: 角膜輪状類皮
エントリ  
H01149                                                             
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
   良性非間葉系腫瘍
    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
ICD-10: D31.1
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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