KEGG   DISEASE: もやもや病Help
エントリ  
H01396                                                             

名称    
もやもや病
概要    
もやもや病は、進行性の内頸動脈終末部の狭窄または閉塞を特徴とする稀な脳血管障害である。本疾患は脳基底部に細くてもろい側副血行路の異常な発達を伴う。
カテゴリ  
循環器疾患
階層分類  
ヒト疾患 [BR:jp08402]
 循環器系疾患
  脈管疾患
   H01396  もやもや病
ICD-11 による疾患分類 [BR:jp08403]
 08 Diseases of the nervous system
  Cerebrovascular diseases
   Cerebral ischaemia
    8B22  Certain specified cerebrovascular diseases
     H01396  もやもや病
特定疾患 (難病) [jp08407.html]
 H01396
BRITE hierarchy
パスウェイ 
hsa04270  血管平滑筋の収縮
病因遺伝子 
RNF213 [HSA:57674] [KO:K22754]
ACTA2 [HSA:59] [KO:K12313]
GUCY1A3 [HSA:2982] [KO:K12318]
コメント  
The homozygous c.14576G>A variant in RNF213 could be a good DNA biomarker for predicting the severe type of Moyamoya Disease.
リンク   
ICD-11: 8B22.B
ICD-10: I67.5
MeSH: D009072
OMIM: 252350 607151 614042 615750
文献    
  著者
Komiyama M
  タイトル
Moyamoya Disease is a Progressive Occlusive Arteriopathy of the Primitive Internal Carotid Artery.
  雑誌
Interv Neuroradiol 9:39-45 (2003)
DOI:10.1177/159101990300900105
文献    
  著者
Kamada F, Aoki Y, Narisawa A, Abe Y, Komatsuzaki S, Kikuchi A, Kanno J, Niihori T, Ono M, Ishii N, Owada Y, Fujimura M, Mashimo Y, Suzuki Y, Hata A, Tsuchiya S, Tominaga T, Matsubara Y, Kure S
  タイトル
A genome-wide association study identifies RNF213 as the first Moyamoya disease gene.
  雑誌
J Hum Genet 56:34-40 (2011)
DOI:10.1038/jhg.2010.132
文献    
  著者
Miyatake S, Miyake N, Touho H, Nishimura-Tadaki A, Kondo Y, Okada I, Tsurusaki Y, Doi H, Sakai H, Saitsu H, Shimojima K, Yamamoto T, Higurashi M, Kawahara N, Kawauchi H, Nagasaka K, Okamoto N, Mori T, Koyano S, Kuroiwa Y, Taguri M, Morita S, Matsubara Y, Kure S, Matsumoto N
  タイトル
Homozygous c.14576G>A variant of RNF213 predicts early-onset and severe form of moyamoya disease.
  雑誌
Neurology 78:803-10 (2012)
DOI:10.1212/WNL.0b013e318249f71f
文献    
  著者
Guo DC, Papke CL, Tran-Fadulu V, Regalado ES, Avidan N, Johnson RJ, Kim DH, Pannu H, Willing MC, Sparks E, Pyeritz RE, Singh MN, Dalman RL, Grotta JC, Marian AJ, Boerwinkle EA, Frazier LQ, LeMaire SA, Coselli JS, Estrera AL, Safi HJ, Veeraraghavan S, Muzny DM, Wheeler DA, Willerson JT, Yu RK, Shete SS, Scherer SE, Raman CS, Buja LM, Milewicz DM
  タイトル
Mutations in smooth muscle alpha-actin (ACTA2) cause coronary artery disease, stroke, and Moyamoya disease, along with thoracic aortic disease.
  雑誌
Am J Hum Genet 84:617-27 (2009)
DOI:10.1016/j.ajhg.2009.04.007
文献    
  著者
Herve D, Philippi A, Belbouab R, Zerah M, Chabrier S, Collardeau-Frachon S, Bergametti F, Essongue A, Berrou E, Krivosic V, Sainte-Rose C, Houdart E, Adam F, Billiemaz K, Lebret M, Roman S, Passemard S, Boulday G, Delaforge A, Guey S, Dray X, Chabriat H, Brouckaert P, Bryckaert M, Tournier-Lasserve E
  タイトル
Loss of alpha1beta1 soluble guanylate cyclase, the major nitric oxide receptor, leads to moyamoya and achalasia.
  雑誌
Am J Hum Genet 94:385-94 (2014)
DOI:10.1016/j.ajhg.2014.01.018

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