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ORPHA:97330

Thoracic outlet syndrome

low confidenceDisorder

Also known as: TOS · Thoracic outlet compression syndrome

Publications

5,367

Trials

15

Interventional, condition-specific

Researchers

877

Distinct authors in sample

Gene link

—

Readiness

3/6

Stages with a signal

Clinical definition (Orphanet)

Thoracic outlet syndrome (TOS) is a group of disorders characterized by paresthesias, pain and weakness of the upper extremities due to compression, tension or inflammation of the neurovascular bundle as it passes through the thoracic outlet. There are 3 forms of TOS with different clinical pictures and etiologies: neurogenic TOS (NTOS) that can be divided into true or disputed forms, arterial TOS (ATOS) and venous TOS (VTOS).

How rare: How common this is has not been clearly measured.

Orphanet entry

Cross-references

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

Additional Mondo synonyms (1)

thoracic outlet compression syndrome

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.”

3/6 stages with a signal

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

  1. Gene identifiedNot found

    No GenCC disease–gene assertion in this build

  2. LiteraturePresent

    5,367 matched papers (2,295 in last 10 years) Source

  3. Phenotype characterisedPresent

    19 HPO annotations (e.g. Abnormal rib morphology; Muscle weakness; Arthralgia) 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

    15 matched on ClinicalTrials.gov (3 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?

Not yet — the cause hasn't been pinned down in GenCC.

No strong gene–disease assertion joined for this Orphanet entity.

Phenotypes (Monarch / HPO)

19

Associated phenotypes · MONDO:0005979

  • Abnormal rib morphology
  • Muscle weakness
  • Arthralgia
  • Myalgia
  • Paresthesia

Showing 5 of 19 — open Monarch for the full list.

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

2

Drugs / clinical candidates · MONDO_0005979

CTD chemicals (MyDisease.info)

No CTD chemical associations returned for this Mondo ID.

Literature

Is anyone studying this?

5,367

5,367 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.

5,367 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).

2,295 in the last 10 years · low confidence

Phrase hits: 5,367 · MeSH hits: 162

Open Europe PMC search

Who's working on it?

877

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
    Chim H9 papers · 2026

    University of Florida, Division of Plastic & Reconstructive Surgery, Gainesville, FL

    Papers in Europe PMC
  2. 02
    Shekouhi R5 papers · 2026

    University of Florida, Division of Plastic & Reconstructive Surgery, Gainesville, FL

    Papers in Europe PMC
  3. 03
    Suzuki T5 papers · 2025

    Department of Orthopaedic Surgery, Keio University School of Medicine, Tokyo, Japan.

    Papers in Europe PMC
  4. 04
    de Borst GJ4 papers · 2026

    Department of Vascular Surgery, University Medical Centre Utrecht, Utrecht, the Netherlands. Electronic address: G.J.deBorst-2@umcutrecht.nl.

    Papers in Europe PMC
  5. 05
    Mumtaz M4 papers · 2025

    University of Florida, Division of Plastic & Reconstructive Surgery, Gainesville, FL

    Papers in Europe PMC
  6. 06
    Petri BJ4 papers · 2026

    Department of Vascular Surgery, University Medical Centre Utrecht, Utrecht, the Netherlands.

    Papers in Europe PMC
  7. 07
    Abraham P3 papers · 2026

    Vascular Medicine Department, University Hospital, Angers, France; UMR CNRS 1083 INSERM 6015, LUNAM University, Angers, France; Sports and exercise Medicine Department, University Hospital, Angers, France.

    Papers in Europe PMC
  8. 08
    Ahmed SH3 papers · 2025

    Division of Plastic and Reconstructive Surgery, Department of Surgery, University of Florida, Gainesville, FL, USA.

    Papers in Europe PMC
  9. 09
    Babis G3 papers · 2026

    2nd Department of Orthopaedics, Konstantopouleio Hospital, National and Kapodistrian University of Athens, 105 59 Athens, Greece;

    Papers in Europe PMC
  10. 10
    Castilletti V3 papers · 2026

    Department of General Thoracic Surgery, 401 Military Hospital of Athens, 115 25 Athens, Greece;

    Papers in Europe PMC

Clinical research

Is a treatment being tested?

15

interventional trials for this specific condition

15 interventional trials matched this specific condition name; 3 currently recruiting in our sample.

Data as of 11 September 2026

15 interventional trials — more than 77.2% of diseases in the trials denominator have none at all (5501 of 7126; this disease is at the 94th percentile).

low confidence · 94th percentile (trials denominator)

Recruiting interventional trials

From the matched ClinicalTrials.gov set

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

Observational and natural-history studies

15 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 10 · after dedupe 10 · already on CT.gov 0 · kept 0 · parent 0 · uncertain 10 · 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).

Uncertain / not reviewed (10)

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 Thoracic outlet syndrome — 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.

"Thoracic outlet syndrome" OR "Thoracic outlet compression syndrome"

Run this search on Europe PMC

MeSH descriptor terms unioned into the query: Thoracic Outlet Syndrome

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

"Thoracic outlet syndrome" OR "Thoracic outlet compression syndrome"

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

Study-type breakdown: 15 interventional · 15 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: TOS

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 (5367) is extremely high with unknown/missing prevalence — treat as possible over-matching, not proven research intensity

Ingested 2026-07-27T05:10:25.171Z