KEGG   DISEASE: RERE 関連神経発達症候群
エントリ  
H02305                                                             
名称    
RERE 関連神経発達症候群;
脳、眼および心臓の奇形を伴う（または伴わない）神経発達疾患
  上位グループ
脳の構造異常を伴う神経発達障害 [DS:H02470]
症候群性神経発達障害 [DS:H02459]
概要    
RERE-related neurodevelopmental syndrome, also known as neurodevelopmental disorder with or without anomalies of the brain, eye, or heart (NEDBEH), is a rare autosomal dominant disorder. Patients with intellectual disability, developmental delay, and autism spectrum disorder who carry mutations in RERE have been described. RERE is a widely-expressed nuclear receptor coregulator that positively regulates retinoic acid signaling.
カテゴリ  
精神及び行動の障害
階層分類  
ICD-11 による疾患分類 [BR:jp08403]
 20 発達異常
  LD90  関連する臨床的特徴として知的発達障害を伴う病状
   H02305  RERE 関連神経発達症候群
病因遺伝子 
RERE [HSA:473] [KO:K05628]
リンク   
ICD-11: LD90.Y
OMIM: 616975
文献    
PMID:23451234
  著者
Kim BJ, Zaveri HP, Shchelochkov OA, Yu Z, Hernandez-Garcia A, Seymour ML, Oghalai JS, Pereira FA, Stockton DW, Justice MJ, Lee B, Scott DA
  タイトル
An allelic series of mice reveals a role for RERE in the development of multiple organs affected in chromosome 1p36 deletions.
  雑誌
PLoS One 8:e57460 (2013)
DOI:10.1371/journal.pone.0057460
文献    
PMID:27087320
  著者
Fregeau B, Kim BJ, Hernandez-Garcia A, Jordan VK, Cho MT, Schnur RE, Monaghan KG, Juusola J, Rosenfeld JA, Bhoj E, Zackai EH, Sacharow S, Baranano K, Bosch DGM, de Vries BBA, Lindstrom K, Schroeder A, James P, Kulch P, Lalani SR, van Haelst MM, van Gassen KLI, van Binsbergen E, Barkovich AJ, Scott DA, Sherr EH
  タイトル
De Novo Mutations of RERE Cause a Genetic Syndrome with Features that Overlap Those Associated with Proximal 1p36 Deletions.
  雑誌
Am J Hum Genet 98:963-970 (2016)
DOI:10.1016/j.ajhg.2016.03.002
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