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ORPHA:3392

Tularemia

low confidenceDisorder

Publications

9,041

Trials

5

Interventional, condition-specific

Researchers

1,069

Distinct authors in sample

Gene link

—

Readiness

4/6

Stages with a signal

Clinical definition (Orphanet)

A rare bacterial infectious disease caused by Francisella tularensis and characterized by six major clinical presentations: ulceroglandular, glandular, oropharyngeal, oculoglandular, pneumonic, or typhoidal, depending on the route of infection. Early flu-like symptoms are common to all forms and are accompanied/followed by either a skin inoculation ulcer with localized lymphadenopathy; isolated lymphadenopathy; chronic pharyngitis with cervical lymphadenopathy; conjunctivitis with localized lymphadenopathy; lung involvement; severe systemic disease with neurological symptoms.

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 (3)

Francisella tularensis caused disease or disorder · Francisella tularensis disease or disorder · Francisella tularensis infectious disease

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 identifiedNot found

    No GenCC disease–gene assertion in this build

  2. LiteraturePresent

    9,041 matched papers (2,674 in last 10 years) Source

  3. Phenotype characterisedPresent

    39 HPO annotations (e.g. Weight loss; Asthenia; Skin rash) Source

  4. Animal modelNot found

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

  5. Orphan designationPresent

    1 FDA designation (1 FDA orphan-indication approval) — e.g. cethromycin Source

  6. Interventional trialPresent

    5 matched on ClinicalTrials.gov (1 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)

39

Associated phenotypes · MONDO:0018077

  • Weight loss
  • Asthenia
  • Skin rash
  • Pleural effusion
  • Confusion

Showing 5 of 39 — 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)

1

Designation · 1 with FDA orphan-indication approval

  • FDA cethromycinTularemia · 2009-09-09 · Not FDA Approved for Orphan Indication

Sources: FDA OOPD · EMA orphan designations

Open Targets candidates

4

Drugs / clinical candidates · MONDO_0018077

CTD chemicals (MyDisease.info)

No CTD chemical associations returned for this Mondo ID.

Literature

Is anyone studying this?

9,041

9,041 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.

9,041 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).

2,674 in the last 10 years · low confidence

Phrase hits: 9,041 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

1,069

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
    Esmaeili S14 papers · 2026

    Department of Epidemiology and Biostatistics, Research Center for Emerging and Reemerging Infectious Diseases, Pasteur Institute of Iran, Tehran, Iran.

    Papers in Europe PMC
  2. 02
    Mostafavi E7 papers · 2026

    National Reference Laboratory for Plague, Tularemia and Q fever, Research Centre for Emerging and Reemerging infectious diseases, Pasteur Institute of Iran, Akanlu, Kabudar Ahang, Hamadan, Iran; Department of Epidemiology and Biostatistics, Research Centre for Emerging and Reemerging Infectious Diseases, Pasteur Institute of Iran, Tehran, Iran. Electronic address: mostafavi@pasteur.ac.ir.

    Papers in Europe PMC
  3. 03
    Bozue JA6 papers · 2026

    United States Army Medical Research Institute of Infectious Diseases (USAMRIID), Bacteriology Division, Fort Detrick, Frederick, MD, USA.

    Papers in Europe PMC
  4. 04
    Latifian M5 papers · 2026

    WHO Collaborating Centre for Vector-Borne Diseases, Department of Epidemiology and Biostatistics, Research Centre for Emerging and Reemerging Infectious Diseases, Pasteur Institute of Iran, Tehran, Iran.

    Papers in Europe PMC
  5. 05
    Mlynek KD5 papers · 2026

    Bacteriology Division, U.S. Army Medical Research Institute of Infectious Diseases (USAMRIID), Frederick, MD, USA. Electronic address: kevin.d.mlynek.civ@health.mil.

    Papers in Europe PMC
  6. 06
    Moradkasani S5 papers · 2026

    Department of Epidemiology and Biostatistics, Research Center for Emerging and Reemerging Infectious Diseases, Pasteur Institute of Iran, Tehran, Iran.

    Papers in Europe PMC
  7. 07
    Toothman RG5 papers · 2026

    Bacteriology Division, U.S. Army Medical Research Institute of Infectious Diseases (USAMRIID), Frederick, MD, USA.

    Papers in Europe PMC
  8. 08
    Clemens DL4 papers · 2026

    Department of Medicine, UCLA, 10833 Le Conte Ave., Los Angeles, CA 90095, United States.

    Papers in Europe PMC
  9. 09
    Cline CR4 papers · 2025

    Pathology Division, U.S. Army Medical Research Institute of Infectious Diseases (USAMRIID), Frederick, MD, USA.

    Papers in Europe PMC
  10. 10
    Heuner K4 papers · 2025

    Working group: Cellular Interactions of Bacterial Pathogens, Centre for Biological Threats and Special Pathogens, Highly Pathogenic Microorganisms (ZBS 2), Robert Koch Institute, Seestraße 10, Berlin, 13353, Germany. HeunerK@rki.de.

    Papers in Europe PMC

Clinical research

Is a treatment being tested?

5

interventional trials for this specific condition

5 interventional trials matched this specific condition name; 1 currently recruiting in our sample.

Data as of 11 September 2026

5 interventional trials — more than 77.2% of diseases in the trials denominator have none at all (5501 of 7126; this disease is at the 89.2th percentile).

low confidence · 89.2th percentile (trials denominator)

Recruiting interventional trials

From the matched ClinicalTrials.gov set

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

Observational and natural-history studies

1 observational study matches 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.

None of the matched observational studies is currently listed as 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 2026-07-29

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 Tularemia — 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.

"Tularemia" OR "Francisella tularensis infectious disease"

Run this search on Europe PMC

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

"Tularemia" OR "Francisella tularensis infectious disease"

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

Study-type breakdown: 5 interventional · 1 observational · 0 expanded access. Only interventional studies enter the trial headline.

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

Run this search on ClinicalTrials.gov

Synonyms dropped by stoplist: Francisella tularensis caused disease or disorder; Francisella tularensis disease or disorder

Confidence reasoning

  • Preferred label is short or not clearly distinctive
  • No synonyms dropped by stoplist
  • No label/synonym collisions with other diseases in this corpus
  • Publication count (9041) is implausibly high for prevalence class "<1 / 1 000 000" — treat as possible over-matching, not a measure of research intensity

Ingested 2026-07-26T23:06:06.126Z