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ORPHA:443236

Postural orthostatic tachycardia syndrome due to NET deficiency

low confidenceDisorder

Also known as: Familial orthostatic tachycardia due to norepinephrine transporter deficiency · Orthostatic intolerance due to NET deficiency · POTS due to NET deficiency

Publications

48,477

Trials

62

Interventional, condition-specific

Researchers

899

Distinct authors in sample

Gene link

SLC6A2

Limited

Readiness

4/6

Stages with a signal

Clinical definition (Orphanet)

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.

How rare: <1 / 1 000 000 — fewer than one in a million. In a city the size of Kolkata, that might mean on the order of fifteen people.

Orphanet entry

Cross-references

Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.

Additional Mondo synonyms (5)

POTS · familial orthostatic tachycardia due to norepinephrine transporter deficiency · irritable heart · orthostatic intolerance due to NET deficiency · soldiers heart

Research stages

Trial readiness signals

Where this condition sits on an open-data research pipeline — not how close a treatment is, and not medical advice. Empty stages often mean “not in these databases under this Mondo ID,” not “impossible.”

4/6 stages with a signal

An interventional trial matched this condition name on ClinicalTrials.gov — see trials below.

  1. Gene identifiedPresent

    Limited — SLC6A2

  2. LiteraturePresent

    48,477 matched papers (24,827 in last 10 years) Source

  3. Phenotype characterisedPresent

    2 HPO annotations (e.g. Elevated urinary norepinephrine level; Orthostatic tachycardia) Source

  4. Animal modelNot found

    No Alliance genotype “model of” associations via Monarch for these Mondo IDs

  5. Orphan designationNot found

    No FDA or EMA orphan-drug designation matched this disease via UMLS or preferred name Source

  6. Interventional trialPresent

    62 matched on ClinicalTrials.gov (21 recruiting in sample)

Biology

Genes and phenotypes

Gene–disease validity from GenCC, plus phenotypes and animal models joined from Monarch Initiative via Mondo ID — not a clinical diagnosis aid.

Do we know what causes it?

Possibly — only limited evidence so far for SLC6A2.

GenCC classification: Limited.

Phenotypes (Monarch / HPO)

2

Associated phenotypes · MONDO:0011479

  • Elevated urinary norepinephrine level
  • Orthostatic tachycardia

Animal models (Monarch / Alliance)

None returned for this Mondo ID. Empty here is not proof that no model organism work exists under another name or gene.

Monarch fetch 2026-07-29

Therapies

Designations, candidates, and chemicals

FDA OOPD and EMA orphan designations, Open Targets clinical candidates, and CTD chemical associations via MyDisease.info. These never change the interventional-trial headline.

Orphan designation (FDA · EMA)

No designation matched this disease via UMLS or preferred name on the FDA OOPD mirror or EMA orphan register. Absence here is not proof that none exists under another wording.

Open Targets candidates

38

Drugs / clinical candidates · MONDO_0011479

CTD chemicals (MyDisease.info)

5 associated chemicals. Therapeutic evidence is listed first when present — not a treatment recommendation.

  • Bisoprolol · therapeutic
  • Fludrocortisone · therapeutic
  • Losartan · therapeutic
  • Propranolol · therapeutic
  • Mefloquine · marker/mechanism

MyDisease.info · MONDO:0011479

Literature

Is anyone studying this?

48,477

48,477 papers — among the better-studied rare conditions, though still a fraction of common-disease literature (breast cancer: over 700,000). Median papers in the last 10 years for a rare disease in this dataset (publications denominator n=3967) is 59.

48,477 papers since the earliest indexed year in this search — median last-10-year count for a rare disease in this dataset is 59 (publications denominator n=3967).

24,827 in the last 10 years · low confidence

Phrase hits: 529 · MeSH hits: 107

Open Europe PMC search

Who's working on it?

899

Distinct author names in 200 sampled papers — named people below.

Who's working on it?

People publishing on this condition (sampled Europe PMC records). Affiliation is the most recent found in that sample.

  1. 01
    Wooley CF13 papers · 2004

    Division of Cardiology, College of Medicine, Ohio State University, Columbus.

    Papers in Europe PMC
  2. 02
    Bergman H3 papers · 2025

    Cochrane, Cochrane Response, St Albans House, 57-59 Haymarket, London, UK, SW1Y 4QX.

    Papers in Europe PMC
  3. 03
    Buckley BS3 papers · 2025

    Cochrane, Cochrane Response, St Albans House, 57-59 Haymarket, London, UK, SW1Y 4QX.

    Papers in Europe PMC
  4. 04
    Henschke N3 papers · 2025

    Cochrane, Cochrane Response, St Albans House, 57-59 Haymarket, London, UK, SW1Y 4QX.

    Papers in Europe PMC
  5. 05
    Snedkov EV3 papers · 2020

    Mechnikov North-Western State Medical University of the Ministry of Healthcare of the Russian Federation, St.-Petersburg, Russia; St. Petersburg Psychiatric Hospital of St. Nicholas, St. Petersburg, Russia.

    Papers in Europe PMC
  6. 06
    Soldatkin VA3 papers · 2020

    Rostov State Medical University' of the Ministry of Healthcare of the Russian Federation, Rostov, Russia.

    Papers in Europe PMC
  7. 07
    Sukiasyan SG3 papers · 2020

    Department of Psychiatric Rehabilitation 'Stress' at 'ARTMED' Medical Rehabilitation Center, Yerevan, Armenia; Armenian Medical Institute, Yerevan, Armenia.

    Papers in Europe PMC
  8. 08
    Tadevosyan MY3 papers · 2020

    Department of Psychiatric Rehabilitation 'Stress' at 'ARTMED' Medical Rehabilitation Center, Yerevan, Armenia; Armenian Medical Institute, Yerevan, Armenia.

    Papers in Europe PMC
  9. 09
    Villanueva G3 papers · 2025

    Cochrane, Cochrane Response, St Albans House, 57-59 Haymarket, London, UK, SW1Y 4QX.

    Papers in Europe PMC
  10. 10
    Wang Y3 papers · 2026

    The Brain Science Center, Beijing Institute of Basic Medical Sciences, Beijing, China.

    Papers in Europe PMC

Clinical research

Is a treatment being tested?

62

interventional trials for this specific condition

62 interventional trials matched this specific condition name; 21 currently recruiting in our sample.

Data as of 11 September 2026 · last trial check 28 July 2026

62 interventional trials — more than 77.2% of diseases in the trials denominator have none at all (5501 of 7126; this disease is at the 97.6th percentile).

low confidence · 97.6th percentile (trials denominator)

Recruiting interventional trials

From the matched ClinicalTrials.gov set

62 interventional trials matched after quoted-phrase search and title/condition post-filter.

Observational and natural-history studies

17 observational studies match this condition. These do not test a treatment and are not counted in the interventional-trial headline, but they are genuine research: natural-history work often defines the endpoints needed for a future rare-disease trial, and families may be able to enroll.

Recruiting or not-yet-recruiting

Open the complete matched search on ClinicalTrials.gov

Other registries (secondary)

Broader net from EU CTIS, ISRCTN, and ICTRP when available — deduped against ClinicalTrials.gov IDs already counted above. Dual-model LLM relevance gates what we keep. These rows are not added to the interventional headline.

raw 0 · after dedupe 0 · already on CT.gov 0 · kept 0 · parent 0 · uncertain 0 · dropped 0 · fetched 2026-07-30

Source notes: ictrp: Error: ICTRP public search unavailable (WHO portal is SPA-only; SOAP needs partnership). Tried: https://apps.who.int/tri

No secondary-registry studies passed dual-model relevance for this condition name (after dedupe).

Where to find support

Condition-specific patient organisations, when Orphanet lists them, are on the disease’s Orphanet page. We also link umbrella groups that support undiagnosed and ultra-rare families.

Orphanet entry for Postural orthostatic tachycardia syndrome due to NET deficiency — check Associations / patient organisations on that page.

India — NPRD

Last verified 2026-07-26

This ORPHAcode is not on our curated NPRD list (direct or Mondo-parent match). That does not decide clinical eligibility; families in India should ask a notified Centre of Excellence about current coverage.

Hand-curated for this project. ORPHAcode mappings are best-effort and may be incomplete or imprecise for umbrella categories. Parent (Mondo) matches mean the policy lists a broader category — confirm eligibility with a Centre of Excellence. Financial entitlements summarised from public policy statements and may change. This is not official government guidance.

How we counted this

Europe PMC query (preferred label + any corrected label + Orphanet and Mondo exact synonyms, stoplisted; unioned with resolved MeSH labels when available). UMLS / OMIM / NCIT cross-references are stored on the overview but are not added to the query string.

("Postural orthostatic tachycardia syndrome due to NET deficiency" OR "Familial orthostatic tachycardia due to norepinephrine transporter deficiency" OR "Orthostatic intolerance due to NET deficiency" OR "POTS due to NET deficiency" OR "irritable heart" OR "soldiers heart") OR (MESH:"Postural Orthostatic Tachycardia Syndrome") OR ("SLC6A2" OR "SLC6A2 syndrome" OR "SLC6A2-related")

Run this search on Europe PMC

MeSH descriptor terms unioned into the query: Postural Orthostatic Tachycardia Syndrome

ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):

"Postural orthostatic tachycardia syndrome due to NET deficiency" OR "Familial orthostatic tachycardia due to norepinephrine transporter deficiency" OR "Orthostatic intolerance due to NET deficiency" OR "POTS due to NET deficiency" OR "irritable heart" OR "soldiers heart" OR "Postural Orthostatic Tachycardia Syndrome"

Interventional trials matched via: mesh (mesh = registered under a MeSH descriptor no name phrase would catch; recall-expansion = gene / selected parent terms used only for trials).

Study-type breakdown: 62 interventional · 17 observational · 0 expanded access. Only interventional studies enter the trial headline.

Query health: ok — strategies attempted: phrase, mesh; with hits: phrase, mesh

Run this search on ClinicalTrials.gov

Synonyms dropped by stoplist: POTS

Confidence reasoning

  • Preferred label is multi-word and distinctive
  • 1 synonym(s) dropped by stoplist (may under-count)
  • No label/synonym collisions with other diseases in this corpus
  • Publication count (48477) is implausibly high for prevalence class "<1 / 1 000 000" — treat as possible over-matching, not a measure of research intensity

Ingested 2026-07-27T16:26:38.076Z