KEGG   DISEASE: 常染色体優性遺伝性小脳失調、難聴及びナルコレプシー
エントリ  
H02940                                                             
名称    
常染色体優性遺伝性小脳失調、難聴及びナルコレプシー
概要    
Autosomal dominant cerebellar ataxia, deafness, and narcolepsy (ADCADN) is characterized by late onset cerebellar ataxia, sensory neuronal deafness, narcolepsy-cataplexy and dementia. It has been reported that mutations in DNMT1 cause this disease. DNMT1 is a widely expressed DNA methyltransferase maintaining methylation patterns in development, and mediating transcriptional repression by direct binding to HDAC2.
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
  多発性の発達異常または症候群
   LD2H  症候群性遺伝性難聴
    H02940  常染色体優性遺伝性小脳失調、難聴及びナルコレプシー
病因遺伝子 
DNMT1 [HSA:1786] [KO:K00558]
リンク   
ICD-11: LD2H.Y
OMIM: 604121
文献    
PMID:8747854
  著者
Melberg A, Hetta J, Dahl N, Nennesmo I, Bengtsson M, Wibom R, Grant C, Gustavson KH, Lundberg PO
  タイトル
Autosomal dominant cerebellar ataxia deafness and narcolepsy.
  雑誌
J Neurol Sci 134:119-29 (1995)
DOI:10.1016/0022-510x(95)00228-0
文献    
  著者
Winkelmann J, Lin L, Schormair B, Kornum BR, Faraco J, Plazzi G, Melberg A, Cornelio F, Urban AE, Pizza F, Poli F, Grubert F, Wieland T, Graf E, Hallmayer J, Strom TM, Mignot E
  タイトル
Mutations in DNMT1 cause autosomal dominant cerebellar ataxia, deafness and narcolepsy.
  雑誌
Hum Mol Genet 21:2205-10 (2012)
DOI:10.1093/hmg/dds035
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