KEGG   DISEASE: 起立性低血圧
エントリ  
H02751                                                             
名称    
起立性低血圧
  下位グループ
ドーパミンベータヒドロキシラーゼ欠損症 [DS:H01005]
概要    
Orthostatic hypotension (ORTHYP) is caused by an excessive fall of cardiac output or by defective or inadequate vasoconstrictor mechanisms. Characteristic symptoms include lightheadedness, dizziness, and syncope. Orthostatic hypotension is a common clinical problem, but the underlying mechanisms have not been fully delineated. It has been reported that mutations in genes encoding proteins of the catecholamine metabolism are associated with orthostatic hypotension. Catecholamines play an essential role in regulation of vascular tone and blood pressure.
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
  低血圧
   BA21  起立性低血圧
    H02751  起立性低血圧
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
   H02751  起立性低血圧
パスウェイ 
hsa00350  Tyrosine metabolism
ネットワーク
nt06544 Neuroactive ligand signaling
病因遺伝子 
(ORTHYP1) DBH [HSA:1621] [KO:K00503]
(ORTHYP2) CYB561 [HSA:1534] [KO:K08360]
リンク   
ICD-11: BA21
OMIM: 223360 618182
文献    
PMID:11857564 (ORTHYP1)
  著者
Kim CH, Zabetian CP, Cubells JF, Cho S, Biaggioni I, Cohen BM, Robertson D, Kim KS
  タイトル
Mutations in the dopamine beta-hydroxylase gene are associated with human norepinephrine deficiency.
  雑誌
Am J Med Genet 108:140-7 (2002)
DOI:10.1002/ajmg.10196
文献    
PMID:29343526 (ORTHYP2)
  著者
van den Berg MP, Almomani R, Biaggioni I, van Faassen M, van der Harst P, Sillje HHW, Mateo Leach I, Hemmelder MH, Navis G, Luijckx GJ, de Brouwer APM, Venselaar H, Verbeek MM, van der Zwaag PA, Jongbloed JDH, van Tintelen JP, Wevers RA, Kema IP
  タイトル
Mutations in CYB561 Causing a Novel Orthostatic Hypotension Syndrome.
  雑誌
Circ Res 122:846-854 (2018)
DOI:10.1161/CIRCRESAHA.117.311949
文献    
  著者
Fagius J, Klar J, Dahl N
  タイトル
Early-onset hereditary isolated non-neurogenic orthostatic hypotension in a Swedish family.
  雑誌
Clin Auton Res 33:421-432 (2023)
DOI:10.1007/s10286-023-00963-9
文献    
  著者
Freeman R, Wieling W, Axelrod FB, Benditt DG, Benarroch E, Biaggioni I, Cheshire WP, Chelimsky T, Cortelli P, Gibbons CH, Goldstein DS, Hainsworth R, Hilz MJ, Jacob G, Kaufmann H, Jordan J, Lipsitz LA, Levine BD, Low PA, Mathias C, Raj SR, Robertson D, Sandroni P, Schatz I, Schondorff R, Stewart JM, van Dijk JG
  タイトル
Consensus statement on the definition of orthostatic hypotension, neurally mediated syncope and the postural tachycardia syndrome.
  雑誌
Clin Auton Res 21:69-72 (2011)
DOI:10.1007/s10286-011-0119-5
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