KEGG   DISEASE: 白質脳症、脳石灰化および嚢腫
エントリ  
H02473                                                             
名称    
白質脳症、脳石灰化および嚢腫;
Labrune 症候群
概要    
Leukoencephalopathy, brain calcifications, and cysts (LCC) is a rare disorder that is radiologically characterized by edematous leukoencephalopathy, cerebral calcifications, and formation of parenchymal cysts. It has been shown that mutations in the gene SNORD118, encoding the box C/D snoRNA U8, cause LCC.
カテゴリ  
神経系疾患
階層分類  
ICD-11 による疾患分類 [BR:jp08403]
 08 神経系の疾患
  神経系のその他の疾患
   8E4Y  その他の明示された神経系の疾患
    H02473  白質脳症、脳石灰化および嚢腫
病因遺伝子 
SNORD118 [HSA:727676] [KO:K27110]
リンク   
ICD-11: 8E4Y
MeSH: C000598644
OMIM: 614561
文献    
  著者
Jenkinson EM, Rodero MP, Kasher PR, Uggenti C, Oojageer A, Goosey LC, Rose Y, Kershaw CJ, Urquhart JE, Williams SG, Bhaskar SS, O'Sullivan J, Baerlocher GM, Haubitz M, Aubert G, Baranano KW, Barnicoat AJ, Battini R, Berger A, Blair EM, Brunstrom-Hernandez JE, Buckard JA, Cassiman DM, Caumes R, Cordelli DM, De Waele LM, Fay AJ, Ferreira P, Fletcher NA, Fryer AE, Goel H, Hemingway CA, Henneke M, Hughes I, Jefferson RJ, Kumar R, Lagae L, Landrieu PG, Lourenco CM, Malpas TJ, Mehta SG, Metz I, Naidu S, Ounap K, Panzer A, Prabhakar P, Quaghebeur G, Schiffmann R, Sherr EH, Sinnathuray KR, Soh C, Stewart HS, Stone J, Van Esch H, Van Mol CE, Vanderver A, Wakeling EL, Whitney A, Pavitt GD, Griffiths-Jones S, Rice GI, Revy P, van der Knaap MS, Livingston JH, O'Keefe RT, Crow YJ
  タイトル
Mutations in SNORD118 cause the cerebral microangiopathy leukoencephalopathy with calcifications and cysts.
  雑誌
Nat Genet 48:1185-92 (2016)
DOI:10.1038/ng.3661
文献    
  著者
Sener U, Zorlu Y, Men S, Bayol U, Zanapalioglu U
  タイトル
Leukoencephalopathy, cerebral calcifications, and cysts.
  雑誌
AJNR Am J Neuroradiol 27:200-3 (2006)
文献    
  著者
Ma Y, Zhang X, Cheng C, Xu Q, Di H, Zhao J, Huang D, Yu S
  タイトル
Leukoencephalopathy with calcifications and cysts: A case report.
  雑誌
Medicine (Baltimore) 96:e7597 (2017)
DOI:10.1097/MD.0000000000007597
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