Postural orthostatic tachycardia syndrome

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Postural orthostatic tachycardia syndrome due to NET deficiency

ORPHA:443236Disease

Also called Familial orthostatic tachycardia due to norepinephrine transporter deficiency · Orthostatic intolerance due to NET deficiency · POTS due to NET deficiency

What it is

A rare, genetic, primary orthostatic disorder characterized by dizziness, palpitations, fatigue, blurred vision and tachycardia following postural change from a supine to an upright position, in the absence of hypotension. A syncope with transient cognitive impairment and dyspnea may also occur. The norepinephrine transporter deficiency leads to abnormal uptake and high plasma concentrations of norepinephrine.

Key facts

Prevalence
<1 / 1 000 000
Age of onset
Adult
Inheritance
Autosomal dominant
Classified as
Disease

Prevalence figures describe populations, not individuals, and are often estimates from a single study. Where the figure is an incidence or a birth prevalence, it says so.

Gene

SLC6A2Disease-causing germline mutation(s) (loss of function)

ICD-10 codes

I95.1filed under a broader ICD-10 category

Related health topics

Reached through the ICD-10 categories this disease is filed under, so these describe the broader group rather than this disease specifically.

Cross-references

GARD 13591MONDO 0011479MONDO 11479OMIM 604715UMLS C5680060

Orphadata Science: Free access data from Orphanet. © INSERM 1999. Data version 2026-06-23. Available under CC BY 4.0. This is a reference, not medical advice.

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