Postural orthostatic tachycardia syndrome due to NET deficiency
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 April 2024
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Postural orthostatic tachycardia syndrome due to NET deficiency?
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Advocacy Organizations
COMBINEDBrain Inc
COMBINEDBrain is a consortium for outcome measures and biomarkers for neurodevelopmental disorders. We are collaborating to cure rare, non-verbal brain disorders.
Dysautonomia Support Network
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