KEGG   DISEASE: 多巣性線維筋性異形成
エントリ  
H02719                                                             
名称    
多巣性線維筋性異形成
概要    
Multifocal fibromuscular dysplasia (FMDMF) is one form of dysplasia-associated arterial disease characterized histologically by medial fibroplasia, and angiographically by multiple arterial stenoses with intervening mural dilations. A mutation in the COL5A1 gene, encoding collagen type V alpha 1 chain, has been reported in patients with FMDMF.
カテゴリ  
循環器系疾患
階層分類  
ICD-11 による疾患分類 [BR:jp08403]
 11 循環器系の疾患
  動脈または細動脈の疾患
   慢性動脈閉塞性疾患
    BD41  非動脈硬化性慢性動脈閉塞症
     H02719  多巣性線維筋性異形成
パスウェイに基づく疾患分類 [BR:jp08402]
 細胞プロセス
  nt06539  筋細胞の細胞骨格
   H02719  多巣性線維筋性異形成
パスウェイ 
hsa04820  Cytoskeleton in muscle cells
ネットワーク
nt06539 Cytoskeleton in muscle cells
病因遺伝子 
COL5A1 [HSA:1289] [KO:K19721]
リンク   
ICD-11: BD41.Y
OMIM: 619329
文献    
  著者
Richer J, Hill HL, Wang Y, Yang ML, Hunker KL, Lane J, Blackburn S, Coleman DM, Eliason J, Sillon G, D'Agostino MD, Jetty P, Mongeon FP, Laberge AM, Ryan SE, Fendrikova-Mahlay N, Coutinho T, Mathis MR, Zawistowski M, Hazen SL, Katz AE, Gornik HL, Brummett CM, Abecasis G, Bergin IL, Stanley JC, Li JZ, Ganesh SK
  タイトル
A Novel Recurrent COL5A1 Genetic Variant Is Associated With a Dysplasia-Associated Arterial Disease Exhibiting Dissections and Fibromuscular  Dysplasia.
  雑誌
Arterioscler Thromb Vasc Biol 40:2686-2699 (2020)
DOI:10.1161/ATVBAHA.119.313885
LinkDB    

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