KEGG   DISEASE: Orthostatic hypotension
Entry
H02751                      Disease                                
Name
Orthostatic hypotension
  Subgroup
Dopamine beta-hydroxylase deficiency [DS:H01005]
Description
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.
Category
Cardiovascular disease
Brite
Human diseases in ICD-11 classification [BR:br08403]
 11 Diseases of the circulatory system
  Hypotension
   BA21  Orthostatic hypotension
    H02751  Orthostatic hypotension
Pathway-based classification of diseases [BR:br08402]
 Cellular process
  nt06544  Neuroactive ligand signaling
   H02751  Orthostatic hypotension
Pathway
hsa00350  Tyrosine metabolism
Network
nt06544 Neuroactive ligand signaling
Gene
(ORTHYP1) DBH [HSA:1621] [KO:K00503]
(ORTHYP2) CYB561 [HSA:1534] [KO:K08360]
Other DBs
ICD-11: BA21
OMIM: 223360 618182
Reference
PMID:11857564 (ORTHYP1)
  Authors
Kim CH, Zabetian CP, Cubells JF, Cho S, Biaggioni I, Cohen BM, Robertson D, Kim KS
  Title
Mutations in the dopamine beta-hydroxylase gene are associated with human norepinephrine deficiency.
  Journal
Am J Med Genet 108:140-7 (2002)
DOI:10.1002/ajmg.10196
Reference
PMID:29343526 (ORTHYP2)
  Authors
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
  Title
Mutations in CYB561 Causing a Novel Orthostatic Hypotension Syndrome.
  Journal
Circ Res 122:846-854 (2018)
DOI:10.1161/CIRCRESAHA.117.311949
Reference
  Authors
Fagius J, Klar J, Dahl N
  Title
Early-onset hereditary isolated non-neurogenic orthostatic hypotension in a Swedish family.
  Journal
Clin Auton Res 33:421-432 (2023)
DOI:10.1007/s10286-023-00963-9
Reference
  Authors
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
  Title
Consensus statement on the definition of orthostatic hypotension, neurally mediated syncope and the postural tachycardia syndrome.
  Journal
Clin Auton Res 21:69-72 (2011)
DOI:10.1007/s10286-011-0119-5
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