KEGG   DISEASE: Spastic paraplegia, optic atrophy, and neuropathy
エントリ  
H02114                                                             
名称    
Spastic paraplegia, optic atrophy, and neuropathy
概要    
Spastic paraplegia, optic atrophy, and neuropathy (SPOAN) is an autosomal recessive neurodegenerative disorder clinically defined by congenital optic atrophy, progressive spastic paraplegia with onset in infancy, and progressive motor and sensory axonal neuropathy. A mutation in KLC2 gene has been reported to be responsible for the SPOAN phenotype.
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
  外傷を除く脊髄疾患
   8B44  変性性脊髄性疾患
    H02114  Spastic paraplegia, optic atrophy, and neuropathy
パスウェイに基づく疾患分類 [BR:jp08402]
 細胞プロセス
  nt06541  神経細胞の細胞骨格
   H02114  Spastic paraplegia, optic atrophy, and neuropathy
ネットワーク
nt06541 Cytoskeleton in neurons
病因遺伝子 
KLC2 [HSA:64837] [KO:K10407]
リンク   
ICD-11: 8B44.01
OMIM: 609541
文献    
PMID:15852396
  著者
Macedo-Souza LI, Kok F, Santos S, Amorim SC, Starling A, Nishimura A, Lezirovitz K, Lino AM, Zatz M
  タイトル
Spastic paraplegia, optic atrophy, and neuropathy is linked to chromosome 11q13.
  雑誌
Ann Neurol 57:730-7 (2005)
DOI:10.1002/ana.20478
文献    
PMID:19344448
  著者
Macedo-Souza LI, Kok F, Santos S, Licinio L, Lezirovitz K, Cavacana N, Bueno C, Amorim S, Pessoa A, Graciani Z, Ferreira A, Prazeres A, de Melo AN, Otto PA, Zatz M
  タイトル
Spastic paraplegia, optic atrophy, and neuropathy: new observations, locus refinement, and exclusion of candidate genes.
  雑誌
Ann Hum Genet 73:382-7 (2009)
DOI:10.1111/j.1469-1809.2009.00507.x
文献    
PMID:26385635
  著者
Melo US, Macedo-Souza LI, Figueiredo T, Muotri AR, Gleeson JG, Coux G, Armas P, Calcaterra NB, Kitajima JP, Amorim S, Olavio TR, Griesi-Oliveira K, Coatti GC, Rocha CR, Martins-Pinheiro M, Menck CF, Zaki MS, Kok F, Zatz M, Santos S
  タイトル
Overexpression of KLC2 due to a homozygous deletion in the non-coding region causes SPOAN syndrome.
  雑誌
Hum Mol Genet 24:6877-85 (2015)
DOI:10.1093/hmg/ddv388
LinkDB    

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