postural orthostatic tachycardia syndrome due to NET deficiency
Findings
No curated finding names postural orthostatic tachycardia syndrome due to NET deficiency yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
A rare, genetic, primary orthostatic disorder caused by the impaired clearance of neurotransmitters at the synaptic cleft due to the deficiency of norepinephrine transporters (NET), 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.
Definition from the Mondo Disease Ontology (MONDO:0011479), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal dominant inheritance
- Onset and course
- Juvenile onset
HPO, annotations 2026-09-02
Features
2 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Elevated urinary norepinephrine levelHPOHP:0003345
- 2 of 2 reported patients
- Orthostatic tachycardiaHPOHP:0012173
- 2 of 2 reported patients
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- SLC6A2HGNC:11048
- Supportive · Orphanet · Autosomal dominant · 2021
- Limited · Labcorp Genetics (formerly Invitae) · Unknown · 2020
- Limited · PanelApp Australia · Autosomal dominant · 2025
Where it sits
Other names
2 names
Resolves to: postural orthostatic tachycardia syndrome due to NET deficiency
- Also called
- familial orthostatic tachycardia due to norepinephrine transporter deficiencyorthostatic intolerance due to NET deficiency