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ORPHA:238606

Primary orthostatic tremor

medium confidenceDisorder

Also known as: POT

Publications

184

54.5th percentile

Trials

3

Interventional, condition-specific

Researchers

558

Distinct authors in sample

Gene link

—

Readiness

3/6

Stages with a signal

Clinical definition (Orphanet)

A rare tremor disorder characterized by an isolated high frequency (>12 Hz) tremor that occurs when standing, typically in weight-bearing muscles, causing a feeling of unsteadiness or discomfort, which disappears when not standing.

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 (1)

pot

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

    184 matched papers (81 in last 10 years) Source

  3. Phenotype characterisedPresent

    7 HPO annotations (e.g. Tremor; Abnormality of extrapyramidal motor function; Abnormality of the musculature) 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

    3 matched on ClinicalTrials.gov

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)

7

Associated phenotypes · MONDO:0016546

  • Tremor
  • Abnormality of extrapyramidal motor function
  • Abnormality of the musculature
  • Myalgia
  • Muscle spasm

Showing 5 of 7 — 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 2026-07-27

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

No drugs or clinical candidates returned for this Mondo ID on Open Targets.

CTD chemicals (MyDisease.info)

No CTD chemical associations returned for this Mondo ID.

Literature

Is anyone studying this?

184

184 papers have ever been published on this condition (under this name). For scale, breast cancer has over 700,000. Median papers in the last 10 years for a rare disease in this dataset (publications denominator n=3967) is 59.

184 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).

81 in the last 10 years · medium confidence · 54.5th percentile (publications denominator)

Phrase hits: 184 · MeSH hits: 7

Open Europe PMC search

Who's working on it?

558

Distinct author names in 184 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
    Elble RJ7 papers · 2026

    Department of Neurology, Southern Illinois University School of Medicine, 751 North Rutledge, PO Box 19643, Springfield, IL 62794-9643, USA.

    Papers in Europe PMC
  2. 02
    Apartis E6 papers · 2021

    2 Sorbonne Universités, UPMC Univ Paris 06, UMR S 1127, Paris, France 3 CNRS, UMR 7225, Paris, France 4 Inserm, U 1127, Paris, France 7 AP-HP, Hôpital de Saint-Antoine, Département de Neurologie, Paris, France.

    Papers in Europe PMC
  3. 03
    Deuschl G6 papers · 2022

    Neurologische Klinik der Christian-Albrechts-Universität zu Kiel, Germany.

    Papers in Europe PMC
  4. 04
    van Rootselaar AF6 papers · 2026

    Neurology and Clinical Neurophysiology, Amsterdam UMC location University of Amsterdam, Amsterdam, The Netherlands.

    Papers in Europe PMC
  5. 05
    Vidailhet M6 papers · 2021

    2 Sorbonne Universités, UPMC Univ Paris 06, UMR S 1127, Paris, France 3 CNRS, UMR 7225, Paris, France 4 Inserm, U 1127, Paris, France 8 AP-HP, Hôpital de la Pitié Salpêtrière, Département de Neurologie, Paris, France.

    Papers in Europe PMC
  6. 06
    de Bie RMA5 papers · 2026

    Neurology and Clinical Neurophysiology, Amsterdam UMC location University of Amsterdam, Amsterdam, The Netherlands.

    Papers in Europe PMC
  7. 07
    Marsden CD5 papers · 2000
    Papers in Europe PMC
  8. 08
    Roze E5 papers · 2021

    2 Sorbonne Universités, UPMC Univ Paris 06, UMR S 1127, Paris, France 3 CNRS, UMR 7225, Paris, France 4 Inserm, U 1127, Paris, France 8 AP-HP, Hôpital de la Pitié Salpêtrière, Département de Neurologie, Paris, France.

    Papers in Europe PMC
  9. 09
    Torres-Russotto D5 papers · 2023

    Movement Disorders Division, Department of Neurological Sciences, University of Nebraska Medical Center, Omaha, NE, USA.

    Papers in Europe PMC
  10. 10
    Af Edholm K4 papers · 2026

    Department of Clinical Sciences, Karolinska Institutet Danderyds Sjukhus, Stockholm, Sweden.

    Papers in Europe PMC

Clinical research

Is a treatment being tested?

3

interventional trials for this specific condition

3 interventional trials matched this specific condition name; none in our sample are currently recruiting.

Data as of 9 September 2026

3 interventional trials — more than 77.2% of diseases in the trials denominator have none at all (5501 of 7126; this disease is at the 86.7th percentile).

medium confidence · 86.7th percentile (trials denominator)

Recruiting interventional trials

From the matched ClinicalTrials.gov set

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

No currently recruiting studies in the matched set. Open the same 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 2 · after dedupe 2 · already on CT.gov 0 · kept 0 · parent 0 · uncertain 0 · dropped 2 · fetched 2026-07-27

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 Primary orthostatic tremor — 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.

"Primary orthostatic tremor"

Run this search on Europe PMC

MeSH descriptor terms unioned into the query: Primary orthostatic tremor

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

"Primary orthostatic tremor"

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: 3 interventional · 0 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: POT

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

Ingested 2026-07-26T02:04:33.544Z