H01031 | |
H number | H01031 |
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 |
Network | - |
Gene | SLC6A2 [HSA:6530] [KO:K05035] |
Pathogen | - |
Env factor | - |
Carcinogen | - |
Drug | - |
Comment | - |
Other DBs | ICD-11: 8D89.2 ICD-10: I95.1 MeSH: D054971 OMIM: 604715 |
Reference | PMID:10684912 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 PMID:14987367 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 PMID:11458707 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 |