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Postural orthostatic tachycardia syndrome (POTS) is described in the packet's disease definition as a condition characterized by the development of symptoms while standing. The same definition characterizes it as a disorder of the autonomic nervous system in which symptoms are relieved once the person sits back down. The packet lists a range of alternative names for the entry, including postural tachycardia syndrome, orthostatic intolerance, irritable heart, soldier's heart and neurocirculatory asthenia. Several listed synonyms refer specifically to a norepinephrine transporter (NET) deficiency form, for example familial orthostatic tachycardia due to norepinephrine transporter deficiency. Because the entry carries both general and NET-deficiency-specific terminology, the sections below are limited to what the packet supplies for the entry as a whole, and no population frequency is stated here.
The packet lists two phenotypes for this entry, both annotated with the frequency label "100% (always present)": orthostatic tachycardia and an elevated urinary norepinephrine level. The disease definition adds that symptoms arise while standing and are relieved by sitting back down. The packet does not supply an age-of-onset category for this condition, and it does not list further characteristic findings, complications or a severity range. The total phenotype count recorded in the packet is two, so the symptom picture described here is intentionally narrow and reflects the extent of the recorded data rather than the full range of what may occur.
The packet lists one gene for this entry, SLC6A2, located on chromosome 16. The packet does not include a gene-disease validity classification for SLC6A2, so the strength of the gene-condition relationship is not characterized here. The inheritance pattern recorded is autosomal dominant. Several synonyms in the packet describe the condition as due to norepinephrine transporter deficiency. The packet does not supply a molecular mechanism, and no statement about how variants in this gene lead to the condition is made. Whether the autosomal dominant pattern and the listed gene apply to every person described by the broader terms in the synonym list is not addressed by the packet. No information on recurrence, penetrance or other genetic risk figures is provided, and none is inferred.
The packet does not contain a diagnostic-methods field or expert-review diagnosis text for this entry, so specific tests, criteria and thresholds are not certified here. The two recorded phenotypes, orthostatic tachycardia and an elevated urinary norepinephrine level, are described in the packet as always present, and the disease definition notes that symptoms develop while standing and resolve on sitting. No newborn-screening information is recorded in the packet for this condition. Statements about how the condition is confirmed in practice are therefore not made.
Treatment coverage is not certified in this packet. The packet contains no foundational therapies, no expert-review management text and no verified FDA-approved treatment records for this entry, and the absence of such records in the packet is not a statement that no treatments exist. No patient assistance program information is recorded. Clinical trial titles listed in the packet include studies of a stellate ganglion block, intravenous saline combined with exercise, and iron deficiency, but these are research records and do not establish an approved or established treatment.
63 trials found
Prognosis is not certified in this packet. No natural-history text or expert-review clinical description is supplied, so no statements about course, outcomes, life expectancy or variability are made.
According to ClinicalTrials.gov records included in the packet, a substantial set of studies related to this condition is currently active or recruiting. The listed records span sponsors that include academic medical centers and a university hospital, and the intervention categories noted in the packet are drug therapy, medical devices, procedural interventions and other interventions. Titles of listed studies point to topics such as stellate ganglion block, intravenous saline and exercise, iron deficiency, salt handling, antibodies and inflammatory markers, sleep actigraphy, and the relationship between NET messenger RNA and NET activity. One listed study of a two-drug combination has a future start date. The packet's publication digest classifies the research literature for this entry as dominated by review and meta-analysis articles, with case reports also present, and indicates that biomarker-related and gene-therapy-related publications are among those classified. No gene therapy trials are flagged in the packet's trial summary. Active clinical trials for this condition are listed on ClinicalTrials.gov.
Data assembled from 7 of 12 sources · Last updated Nov 4, 2026, 6:00 AM UTC
Online Mendelian Inheritance in Man
European rare disease database
Genetic and Rare Diseases Info Center
AI-curated news mentioning postural orthostatic tachycardia syndrome
Updated Mar 2, 2026
A personal account highlights the struggles of living with multiple rare diseases, including Hashimoto’s disease, rheumatoid arthritis, fibromyalgia, and postural orthostatic tachycardia syndrome (POTS). The individual faces significant medical costs and challenges in obtaining disability support, emphasizing the need for greater awareness and advocacy for those with complex health conditions.