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ORPHA:781

Q fever

low confidenceDisorder

Also known as: Coxiellosis · Infection due to Coxiella burnetii · Nine Mile fever · Quadrilateral fever · Query fever

Publications

12,621

Trials

6

Interventional, condition-specific

Researchers

1,166

Distinct authors in sample

Gene link

—

Readiness

3/6

Stages with a signal

Clinical definition (Orphanet)

Q fever, caused by Coxiella burnetii, is a bacterial zoonosis with a wide clinical spectrum that can be life-threatening and, in some cases, can become chronic.

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 (7)

Coxiella burnetii caused disease or disorder · Coxiella burnetii disease or disorder · Coxiella burnetii infectious disease · infection due to Coxiella burnetii · nine Mile fever · quadrilateral fever · query fever

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

    12,621 matched papers (4,686 in last 10 years) Source

  3. Phenotype characterisedPresent

    65 HPO annotations (e.g. Granuloma; Photophobia; Skin rash) 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

    6 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)

65

Associated phenotypes · MONDO:0019186

  • Granuloma
  • Photophobia
  • Skin rash
  • Muscle weakness
  • Splenomegaly

Showing 5 of 65 — 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

1

Drugs / clinical candidates · MONDO_0019186

CTD chemicals (MyDisease.info)

6 associated chemicals · 39 pathways. Therapeutic evidence is listed first when present — not a treatment recommendation.

  • 25-hydroxycholesterol · therapeutic
  • 3-beta-(2-(diethylamino)ethoxy)androst-5-en-17-one · therapeutic
  • Imipramine · therapeutic
  • Ketoconazole · therapeutic
  • Lovastatin · therapeutic
  • Cholesterol · marker/mechanism

Pathways: Steroid biosynthesis; Terpenoid backbone biosynthesis; Metabolic pathways; Endocytosis; AMPK signaling pathway; Insulin signaling pathway; Ovarian steroidogenesis; Aldosterone synthesis and secretion

MyDisease.info · MONDO:0019186

Literature

Is anyone studying this?

12,621

12,621 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.

12,621 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).

4,686 in the last 10 years · low confidence

Phrase hits: 12,621 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

1,166

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
    Mertens-Scholz K11 papers · 2026

    Friedrich-Loeffler-Institut, Institute of Bacterial Infections and Zoonoses, 07743, Jena, Germany.

    Papers in Europe PMC
  2. 02
    Stenos J8 papers · 2025

    Australian Rickettsial Reference Laboratory, University Hospital Geelong, Geelong, Victoria, Australia.

    Papers in Europe PMC
  3. 03
    Bauer BU7 papers · 2026

    Clinic for Swine and Small Ruminants, Forensic Medicine and Ambulatory Service, University of Veterinary Medicine Hannover, Foundation, 30173 Hannover, Germany. Electronic address: benjamin.bauer@tiho-hannover.de.

    Papers in Europe PMC
  4. 04
    Neubauer H5 papers · 2026

    Friedrich-Loeffler-Institut, Institute of Bacterial Infections and Zoonoses, 07743, Jena, Germany.

    Papers in Europe PMC
  5. 05
    Stevenson MA5 papers · 2024

    Melbourne Veterinary School, Faculty of Science, The University of Melbourne, Parkville 3010 Victoria, Australia. Electronic address: mark.stevenson1@unimelb.edu.au.

    Papers in Europe PMC
  6. 06
    Berens C4 papers · 2026

    Friedrich-Loeffler-Institut, Institute of Molecular Pathogenesis, Jena, Germany.

    Papers in Europe PMC
  7. 07
    Böttcher J4 papers · 2026

    Animal Health Service, Bavaria, Senator-Gerauer-Str. 23, 85586 Poing, Germany. Electronic address: jens.boettcher@tgd-bayern.de.

    Papers in Europe PMC
  8. 08
    Chaber AL4 papers · 2024

    School of Animal and Veterinary Sciences, The University of Adelaide, Roseworthy, South Australia, Australia.

    Papers in Europe PMC
  9. 09
    Graves SR4 papers · 2025

    Australian Rickettsial Reference Laboratory, Geelong University Hospital, Barwon Health, Geelong, Victoria, Australia.

    Papers in Europe PMC
  10. 10
    Hurtado A4 papers · 2026

    Animal Health Department, NEIKER-Basque Institute for Agricultural Research and Development, Basque Research and Technology Alliance (BRTA), Bizkaia Science and Technology Park 812L, 48160 Derio, Spain.

    Papers in Europe PMC

Clinical research

Is a treatment being tested?

6

interventional trials for this specific condition

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

Data as of 11 September 2026

6 interventional trials — more than 77.2% of diseases in the trials denominator have none at all (5501 of 7126; this disease is at the 90.1th percentile).

low confidence · 90.1th percentile (trials denominator)

Recruiting interventional trials

From the matched ClinicalTrials.gov set

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

Observational and natural-history studies

4 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 17 · after dedupe 17 · already on CT.gov 0 · kept 0 · parent 0 · uncertain 17 · 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).

Uncertain / not reviewed (17)

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 Q fever — 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.

"Q fever" OR "Coxiellosis" OR "Infection due to Coxiella burnetii" OR "Nine Mile fever" OR "Quadrilateral fever" OR "Query fever" OR "Coxiella burnetii infectious disease"

Run this search on Europe PMC

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

"Q fever" OR "Coxiellosis" OR "Infection due to Coxiella burnetii" OR "Nine Mile fever" OR "Quadrilateral fever" OR "Query fever" OR "Coxiella burnetii 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: 6 interventional · 4 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: Coxiella burnetii caused disease or disorder; Coxiella burnetii 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 (12621) is implausibly high for prevalence class "<1 / 1 000 000" — treat as possible over-matching, not a measure of research intensity

Ingested 2026-07-26T15:20:24.713Z