KEGG   DISEASE: レット症候群
エントリ  
H00440                                                             
名称    
レット症候群
概要    
Rett Syndrome is a severe neurological disorder found almost exclusively in girls. It is characterized by acquired microcephaly, communication dysfunction, psychomotor regression, seizures and stereotypical hand movements. Mutations in MECP2 are identified in most patients with classic Rett syndrome. Recently, mutations in FOXG1 gene have been shown to cause congenital variant of Rett syndrome.
カテゴリ  
神経系疾患
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
   H00440  レット症候群
指定難病 [jp08407.html]
 H00440
病因遺伝子 
MECP2 [HSA:4204] [KO:K11588]
FOXG1 [HSA:2290] [KO:K09385]
リンク   
ICD-11: LD90.4
ICD-10: F84.2
MeSH: D015518
OMIM: 312750 613454
文献    
  著者
Kriaucionis S, Bird A
  タイトル
DNA methylation and Rett syndrome.
  雑誌
Hum Mol Genet 12 Spec No 2:R221-7 (2003)
DOI:10.1093/hmg/ddg286
文献    
PMID:10508514 (MECP2)
  著者
Amir RE, Van den Veyver IB, Wan M, Tran CQ, Francke U, Zoghbi HY
  タイトル
Rett syndrome is caused by mutations in X-linked MECP2, encoding methyl-CpG-binding protein 2.
  雑誌
Nat Genet 23:185-8 (1999)
DOI:10.1038/13810
文献    
PMID:19623215 (FOXG1)
  著者
Jacob FD, Ramaswamy V, Andersen J, Bolduc FV
  タイトル
Atypical Rett syndrome with selective FOXG1 deletion detected by comparative genomic hybridization: case report and review of literature.
  雑誌
Eur J Hum Genet 17:1577-81 (2009)
DOI:10.1038/ejhg.2009.95
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