KEGG   DISEASE: 神経フェリチン症
エントリ  
H01779                                                             
名称    
神経フェリチン症
  上位グループ
脳の鉄沈着を伴う神経変性疾患 [DS:H00833]
概要    
Neuroferritinopathy (NF) is a rare autosomal dominant disease caused by mutations in the ferritin light chain (FTL) gene leading to abnormal excessive iron accumulation in the brain, predominantly in the basal ganglia. Clinically, the disease presents as a chorea and dystonia. Clinical presentation may also include extrapyramidal and pyramidal tract signs as well as cerebellar ataxia, dysautonomia, cognitive decline, and psychiatric symptoms.
カテゴリ  
神経変性疾患
階層分類  
ICD-11 による疾患分類 [BR:jp08403]
 08 神経系の疾患
  運動障害
   8A01  舞踏病様障害
    H01779  神経フェリチン症
指定難病 [jp08407.html]
 H01779
パスウェイ 
hsa04216  Ferroptosis
hsa04978  Mineral absorption
病因遺伝子 
FTL [HSA:2512] [KO:K13625]
コメント  
Neuroferritinopathy belongs to the group of disorders collectively known as neurodegeneration with brain iron accumulation (NBIA).
See also H00833 Neurodegeneration with brain iron accumulation (NBIA).
リンク   
ICD-11: 8A01.1Y
ICD-10: G23.8
MeSH: C548080
OMIM: 606159
文献    
  著者
Kumar N, Rizek P, Jog M
  タイトル
Neuroferritinopathy: Pathophysiology, Presentation, Differential Diagnoses and Management.
  雑誌
Tremor Other Hyperkinet Mov (N Y) 6:355 (2016)
DOI:10.7916/D8KK9BHF
文献    
PMID:24825732 (FTL)
  著者
Nishida K, Garringer HJ, Futamura N, Funakawa I, Jinnai K, Vidal R, Takao M
  タイトル
A novel ferritin light chain mutation in neuroferritinopathy with an atypical presentation.
  雑誌
J Neurol Sci 342:173-7 (2014)
DOI:10.1016/j.jns.2014.03.060
LinkDB    

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