KEGG   DISEASE: 遺伝性神経痛性筋萎縮症
エントリ  
H01131                                                             
名称    
遺伝性神経痛性筋萎縮症
概要    
Hereditary neuralgic amyotrophy (HNA) is an autosomal dominant peripheral neuropathy characterized by recurrent painful brachial plexus neuropathies with weakness and atrophy of arm muscles and sensory loss. HNA is triggered by environmental factors such as infection or parturition. It has been reported that HNA is caused by mutations in the gene septin 9. Septins are implicated in formation of the cytoskeleton, cell division and tumorigenesis.
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
  神経根, 神経叢または末梢神経の疾患
   遺伝性ニューロパチー
    8C20  遺伝性運動及び感覚性ニューロパチー
     H01131  遺伝性神経痛性筋萎縮症
病因遺伝子 
SEPT9 [HSA:10801] [KO:K16938]
リンク   
ICD-11: 8C20.Y
MeSH: D020968
OMIM: 162100
文献    
PMID:16186812
  著者
Kuhlenbaumer G, Hannibal MC, Nelis E, Schirmacher A, Verpoorten N, Meuleman J, Watts GD, De Vriendt E, Young P, Stogbauer F, Halfter H, Irobi J, Goossens D, Del-Favero J, Betz BG, Hor H, Kurlemann G, Bird TD, Airaksinen E, Mononen T, Serradell AP, Prats JM, Van Broeckhoven C, De Jonghe P, Timmerman V, Ringelstein EB, Chance PF
  タイトル
Mutations in SEPT9 cause hereditary neuralgic amyotrophy.
  雑誌
Nat Genet 37:1044-6 (2005)
DOI:10.1038/ng1649
LinkDB    

» English version

DBGET integrated database retrieval system