KEGG   DISEASE: 舞踏病アテトーシス様運動と小球性貧血を伴う早期発症神経変性疾患
エントリ  
H02809                                                             
名称    
舞踏病アテトーシス様運動と小球性貧血を伴う早期発症神経変性疾患
概要    
Early-onset neurodegeneration with choreoathetoid movements and microcytic anemia (NDCAMA) is a novel progressive neurodegenerative syndrome. It has been reported that mutations in IREB2 cause this syndrome. IREB2 encodes the iron regulatory protein that plays an essential role in the regulation of iron metabolism.
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
  運動障害
   8A01  舞踏病様障害
    H02809  舞踏病アテトーシス様運動と小球性貧血を伴う早期発症神経変性疾患
病因遺伝子 
IREB2 [HSA:3658] [KO:K22416]
リンク   
ICD-11: 8A01.Y
OMIM: 618451
文献    
  著者
Cooper MS, Stark Z, Lunke S, Zhao T, Amor DJ
  タイトル
IREB2-associated neurodegeneration.
  雑誌
Brain 142:e40 (2019)
DOI:10.1093/brain/awz183
文献    
  著者
Costain G, Ghosh MC, Maio N, Carnevale A, Si YC, Rouault TA, Yoon G
  タイトル
Absence of iron-responsive element-binding protein 2 causes a novel neurodegenerative syndrome.
  雑誌
Brain 142:1195-1202 (2019)
DOI:10.1093/brain/awz072
文献    
  著者
Maio N, Saneto RP, Steet R, Sotero de Menezes MA, Skinner C, Rouault TA
  タイトル
Disruption of cellular iron homeostasis by IREB2 missense variants causes severe neurodevelopmental delay, dystonia and seizures.
  雑誌
Brain Commun 4:fcac102 (2022)
DOI:10.1093/braincomms/fcac102
LinkDB    

» English version

DBGET integrated database retrieval system