KEGG   DISEASE: 起立耐性失調
エントリ  
H01031                                                             
名称    
起立耐性失調;
起立性頻脈症候群
概要    
Orthostatic intolerance (OI) or postural tachycardia syndrome (POTS) is a disorder of the autonomic nervous system primarily affecting young females, and is characterized by lightheadedness, palpitations, fatigue, altered mentation, and syncope primarily occurring with upright posture and being relieved by lying down. Patients often have high plasma norepinephrine (NE) concentrations in relation to sympathetic outflow on standing. Abnormal norepinephrine transporter (NET) function is considered to contribute to the pathophysiology in some patients with OI. The impaired uptake of NE could be caused by a mutation in the SLC6A2 gene that encodes the NET.
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]
 08 神経系の疾患
  自律神経系の疾患
   8D89  起立耐性の疾患
    H01031  起立耐性失調
パスウェイに基づく疾患分類 [BR:jp08402]
 細胞プロセス
  nt06544  神経刺激性リガンドのシグナリング
   H01031  起立耐性失調
パスウェイ 
hsa04082  Neuroactive ligand signaling
hsa04721  Synaptic vesicle cycle
ネットワーク
nt06544 Neuroactive ligand signaling
病因遺伝子 
SLC6A2 [HSA:6530] [KO:K05035]
リンク   
ICD-11: 8D89.2
MeSH: D054971
OMIM: 604715
文献    
  著者
Shannon JR, Flattem NL, Jordan J, Jacob G, Black BK, Biaggioni I, Blakely RD, Robertson D
  タイトル
Orthostatic intolerance and tachycardia associated with norepinephrine-transporter deficiency.
  雑誌
N Engl J Med 342:541-9 (2000)
DOI:10.1056/NEJM200002243420803
文献    
  著者
Tellioglu T, Robertson D
  タイトル
Genetic or acquired deficits in the norepinephrine transporter: current understanding of clinical implications.
  雑誌
Expert Rev Mol Med 2001:1-10 (2001)
DOI:10.1017/S1462399401003878
文献    
  著者
Robertson D, Flattem N, Tellioglu T, Carson R, Garland E, Shannon JR, Jordan J, Jacob G, Blakely RD, Biaggioni I
  タイトル
Familial orthostatic tachycardia due to norepinephrine transporter deficiency.
  雑誌
Ann N Y Acad Sci 940:527-43 (2001)
DOI:10.1111/j.1749-6632.2001.tb03703.x
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