KEGG   DISEASE: Orthostatic intolerance
Entry
H01031                      Disease                                
Name
Orthostatic intolerance;
Postural tachycardia syndrome
Description
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.
Category
Cardiovascular disease
Brite
Human diseases in ICD-11 classification [BR:br08403]
 08 Diseases of the nervous system
  Disorders of autonomic nervous system
   8D89  Disorders of orthostatic tolerance
    H01031  Orthostatic intolerance
Pathway
hsa04721  Synaptic vesicle cycle
Gene
SLC6A2 [HSA:6530] [KO:K05035]
Other DBs
ICD-11: 8D89.2
ICD-10: I95.1
MeSH: D054971
OMIM: 604715
Reference
  Authors
Shannon JR, Flattem NL, Jordan J, Jacob G, Black BK, Biaggioni I, Blakely RD, Robertson D
  Title
Orthostatic intolerance and tachycardia associated with norepinephrine-transporter deficiency.
  Journal
N Engl J Med 342:541-9 (2000)
DOI:10.1056/NEJM200002243420803
Reference
  Authors
Tellioglu T, Robertson D
  Title
Genetic or acquired deficits in the norepinephrine transporter: current understanding of clinical implications.
  Journal
Expert Rev Mol Med 2001:1-10 (2001)
DOI:10.1017/S1462399401003878
Reference
  Authors
Robertson D, Flattem N, Tellioglu T, Carson R, Garland E, Shannon JR, Jordan J, Jacob G, Blakely RD, Biaggioni I
  Title
Familial orthostatic tachycardia due to norepinephrine transporter deficiency.
  Journal
Ann N Y Acad Sci 940:527-43 (2001)
DOI:10.1111/j.1749-6632.2001.tb03703.x
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