KEGG   DISEASE: 脳幹および脊髄の障害と下肢痙縮を伴う髄鞘低形成
エントリ  
H02433                                                             
名称    
脳幹および脊髄の障害と下肢痙縮を伴う髄鞘低形成
概要    
Hypomyelination with brainstem and spinal cord involvement and leg spasticity (HBSL) is characterized by focal cerebral white matter abnormalities and spinal cord signal abnormalities. HBSL is the result of mutations in DARS, a cytoplasmic tRNA synthetase gene.
カテゴリ  
先天性代謝異常症
階層分類  
ICD-11 による疾患分類 [BR:jp08403]
 05 内分泌, 栄養, 代謝の疾患
  代謝疾患
   先天性代謝異常
    5C55  プリン, ピリミジンまたはヌクレオチド代謝の先天性異常
     H02433  脳幹および脊髄の障害と下肢痙縮を伴う髄鞘低形成
パスウェイ 
hsa00970  Aminoacyl-tRNA biosynthesis
病因遺伝子 
DARS1 [HSA:1615] [KO:K22503]
リンク   
ICD-11: 5C55.Y
OMIM: 615281
文献    
PMID:23643384
  著者
Taft RJ, Vanderver A, Leventer RJ, Damiani SA, Simons C, Grimmond SM, Miller D, Schmidt J, Lockhart PJ, Pope K, Ru K, Crawford J, Rosser T, de Coo IF, Juneja M, Verma IC, Prabhakar P, Blaser S, Raiman J, Pouwels PJ, Bevova MR, Abbink TE, van der Knaap MS, Wolf NI
  タイトル
Mutations in DARS cause hypomyelination with brain stem and spinal cord involvement and leg spasticity.
  雑誌
Am J Hum Genet 92:774-80 (2013)
DOI:10.1016/j.ajhg.2013.04.006
文献    
PMID:25684057
  著者
Helman G, Van Haren K, Bonkowsky JL, Bernard G, Pizzino A, Braverman N, Suhr D, Patterson MC, Ali Fatemi S, Leonard J, van der Knaap MS, Back SA, Damiani S, Goldman SA, Takanohashi A, Petryniak M, Rowitch D, Messing A, Wrabetz L, Schiffmann R, Eichler F, Escolar ML, Vanderver A
  タイトル
Disease specific therapies in leukodystrophies and leukoencephalopathies.
  雑誌
Mol Genet Metab 114:527-36 (2015)
DOI:10.1016/j.ymgme.2015.01.014
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