Postural orthostatic tachycardia syndrome due to NET deficiency

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Synonyms: Familial orthostatic tachycardia due to norepinephrine transporter deficiency | Orthostatic intolerance due to NET deficiency | POTS due to NET deficiency

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.

Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview. Reference: Access aggregated data from Orphanet at Orphadata. Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http://www.orphadata.org. Data version January 2026

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Postural orthostatic tachycardia syndrome due to NET deficiency?

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Advocacy Organizations

Project CASK

VISION Project CASK believes in a world free of the life limitations and debilitating effects of CASK gene disorders. ​MISSION To accelerate breakthroughs in research to develop treatments and a cure for CASK gene disorders. ​VALUES Collaboration. Transparency. Urgency.

TNPO2 Foundation

Develop personalized therapeutics for ultra rare genetic neurodevelopmental diseases, especially those arising from mutations in the TNPO2 gene.

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Clinical Trials

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