KEGG   DISEASE: Birk-Barel 症候群
エントリ  
H00709                                                             
名称    
Birk-Barel 症候群
概要    
Birk Barel mental retardation syndrome (BBMRS) is characterized by mental retardation, hypotonia, hyperactivity, and facial dysmorphism. The potassium channel KCNK9 gene, which is responsible for the disease, was found to be imprinted.
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
    H00709  Birk-Barel 症候群
パスウェイ 
hsa04925  Aldosterone synthesis and secretion
病因遺伝子 
KCNK9 [HSA:51305] [KO:K04919]
コメント  
genomic-imprinting defects
リンク   
ICD-11: LD2F.1Y
MeSH: C567357
OMIM: 612292
文献    
PMID:18678320
  著者
Barel O, Shalev SA, Ofir R, Cohen A, Zlotogora J, Shorer Z, Mazor G, Finer G, Khateeb S, Zilberberg N, Birk OS
  タイトル
Maternally inherited Birk Barel mental retardation dysmorphism syndrome caused by a mutation in the genomically imprinted potassium channel KCNK9.
  雑誌
Am J Hum Genet 83:193-9 (2008)
DOI:10.1016/j.ajhg.2008.07.010
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