KEGG   DISEASE: 腎コロボーマ症候群
エントリ  
H01026                                                             
名称    
腎コロボーマ症候群
概要    
Renal coloboma syndrome (RCS), also called papillorenal syndrome, is an autosomal dominant condition comprising optic nerve dysplasia and oligomeganephronic renal hypodysplasia. Mutations in the paired-box gene, PAX2, have been identified in approximately half of individuals with clinical findings suggestive of RCS.
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
  多発性の発達異常または症候群
   LD2F  多発性の構造異常を伴う症候群, 主な体系の関与を伴わないもの
    H01026  腎コロボーマ症候群
病因遺伝子 
PAX2 [HSA:5076] [KO:K15608]
リンク   
ICD-11: LD2F.1Y
MeSH: C537168
OMIM: 120330
文献    
PMID:22213154
  著者
Bower M, Salomon R, Allanson J, Antignac C, Benedicenti F, Benetti E, Binenbaum G, Jensen UB, Cochat P, DeCramer S, Dixon J, Drouin R, Falk MJ, Feret H, Gise R, Hunter A, Johnson K, Kumar R, Lavocat MP, Martin L, Moriniere V, Mowat D, Murer L, Nguyen HT, Peretz-Amit G, Pierce E, Place E, Rodig N, Salerno A, Sastry S, Sato T, Sayer JA, Schaafsma GC, Shoemaker L, Stockton DW, Tan WH, Tenconi R, Vanhille P, Vats A, Wang X, Warman B, Weleber RG, White SM, Wilson-Brackett C, Zand DJ, Eccles M, Schimmenti LA, Heidet L
  タイトル
Update of PAX2 mutations in renal coloboma syndrome and establishment of a locus-specific database.
  雑誌
Hum Mutat 33:457-66 (2012)
DOI:10.1002/humu.22020
文献    
PMID:21654726
  著者
Schimmenti LA
  タイトル
Renal coloboma syndrome.
  雑誌
Eur J Hum Genet 19:1207-12 (2011)
DOI:10.1038/ejhg.2011.102
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