RARE DISEASERESEARCH ATLAS
Open navigation menu

ORPHA:83313

Boutonneuse fever

medium confidenceDisorder

Also known as: Mediterranean spotted fever

Publications

2,578

86.6th percentile

Trials

0

Interventional, condition-specific

Researchers

1,164

Distinct authors in sample

Gene link

—

Readiness

2/6

Stages with a signal

Clinical definition (Orphanet)

A rare spotted fever rickettsiosis caused by infection with the tick-borne bacterium Rickettsia conorii, characterized by the onset of fever after an incubation period of about a week, followed by a centripetally spreading maculopapular rash, which may evolve into a petechial form. Accompanying symptoms are headaches, myalgia and/or arthralgia, among others. The typical ''tache noire'' may be observed at the site of the tick bite for several days. The disease is endemic in Africa, Southern Europe, and India.

How rare: 1-5 / 10 000 — about one to five people per ten thousand (still uncommon, but less ultra-rare).

Orphanet entry

Cross-references

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

Additional Mondo synonyms (11)

African tick typhus · Conor and Bruch's disease · Kenya fever · Kenya tick typhus · Kenyan tick typhus · Mediterranean tick fever · boutonneuse disease · boutonneuse fever · fievre boutonneuse · marseilles fever · tick typhus due to rickettsia conorii

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.”

2/6 stages with a signal

Research-stage checklist from open sources (GenCC, literature, Monarch when enriched, ClinicalTrials.gov). Not a prognosis or care recommendation.

  1. Gene identifiedNot found

    No GenCC disease–gene assertion in this build

  2. LiteraturePresent

    2,578 matched papers (830 in last 10 years) Source

  3. Phenotype characterisedPresent

    26 HPO annotations (e.g. Skin rash; Abnormal skin morphology of the palm; Abnormality of the plantar skin of foot) 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 trialNot found

    No matched interventional trial under our ClinicalTrials.gov rules

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)

26

Associated phenotypes · MONDO:0024472

  • Skin rash
  • Abnormal skin morphology of the palm
  • Abnormality of the plantar skin of foot
  • Renal insufficiency
  • Lymphadenopathy

Showing 5 of 26 — 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

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?

2,578

2,578 papers have been published on this condition. That is a real research literature — still far smaller than common diseases (breast cancer: over 700,000 papers). Median papers in the last 10 years for a rare disease in this dataset (publications denominator n=3967) is 59.

2,578 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).

830 in the last 10 years · medium confidence · 86.6th percentile (publications denominator)

Phrase hits: 2,578 · MeSH hits: 25

Open Europe PMC search

Who's working on it?

1,164

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

Who's working on it?

No interventional trial matched this name; these authors publish on it in the sampled literature — a practical starting point for contact.

  1. 01
    Esmaeili S11 papers · 2026

    National Reference Laboratory for Plague, Tularemia and Q fever, Research Centre for Emerging and Reemerging infectious diseases, Pasteur Institute of Iran, Akanlu, Hamadan, Kabudar Ahang, Iran.

    Papers in Europe PMC
  2. 02
    Mostafavi E9 papers · 2025

    National Reference Laboratory for Plague, Tularemia and Q fever, Research Centre for Emerging and Reemerging infectious diseases, Pasteur Institute of Iran, Akanlu, Hamadan, Kabudar Ahang, Iran.

    Papers in Europe PMC
  3. 03
    Farrokhnia M7 papers · 2024

    Department of internal Medicine, School of Medicine, Kerman University of Medical Sciences, Kerman, Iran.

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

    Department of Pathobiology, Faculty of Veterinary Medicine, Shahid Bahonar University of Kerman, Kerman, Iran. Mdkhalili1@yahoo.com.

    Papers in Europe PMC
  5. 05
    Latifian M5 papers · 2026

    Department of Epidemiology and Biostatics, Research Centre for Emerging and Reemerging Infectious Diseases, Pasteur Institute of Iran, Tehran 1316943551, Iran.

    Papers in Europe PMC
  6. 06
    Parola P4 papers · 2023

    Aix Marseille Univ, IRD, AP-HM, SSA, VITROME, IHU-Méditerranée Infection, Marseille, France. Electronic address: philippe.parola@univ-amu.fr.

    Papers in Europe PMC
  7. 07
    Baltadzhiev I3 papers · 2021

    Department of Infectious Diseases, Parasitology and Tropical Medicine, Faculty of Medicine, Medical University of Plovdiv, and Clinic of Infectious Diseases, St. George University Hospital, Plovdiv, Bulgaria, ivan_balt@yahoo.com.

    Papers in Europe PMC
  8. 08
    Bitam I3 papers · 2025

    umr Vitrome, Aix-Marseille Université, IRD, Service de Santé des Armées, Assistance Publique-Hôpitaux de Marseille, IHU Méditerranée-Infection, 19-21 Boulevard Jean Moulin, Marseille, France.

    Papers in Europe PMC
  9. 09
    Gafarova MT3 papers · 2023

    S.I. Georgievsky Medical Academy (Academic Unit), V.I. Vernadsky Crimean Federal University, Simferopol, Russia.

    Papers in Europe PMC
  10. 10
    MoradKasani S3 papers · 2026

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

    Papers in Europe PMC

Clinical research

Is a treatment being tested?

0

interventional trials for this specific condition

No interventional trial testing a treatment matched this specific condition name on ClinicalTrials.gov (observational studies and pan-disease registries are listed separately when present).

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

No matched interventional trials. This is true for 77.2% of diseases in the trials denominator (5501 of 7126). Here are the researchers publishing on it.

medium confidence · 38.6th percentile (trials denominator)

Recruiting interventional trials

From the matched ClinicalTrials.gov set

No interventional trial testing a treatment was found for this specific condition name on ClinicalTrials.gov.

See who's working on it — people publishing on this disease are often the practical next contact when no trial is listed.

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 Boutonneuse 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.

"Boutonneuse fever" OR "Mediterranean spotted fever" OR "African tick typhus" OR "Conor and Bruch's disease" OR "Kenya fever" OR "Kenya tick typhus" OR "Kenyan tick typhus" OR "Mediterranean tick fever" OR "boutonneuse disease" OR "fievre boutonneuse" OR "marseilles fever" OR "tick typhus due to rickettsia conorii"

Run this search on Europe PMC

MeSH descriptor terms unioned into the query: Boutonneuse Fever

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

"Boutonneuse fever" OR "Mediterranean spotted fever" OR "African tick typhus" OR "Conor and Bruch's disease" OR "Kenya fever" OR "Kenya tick typhus" OR "Kenyan tick typhus" OR "Mediterranean tick fever" OR "boutonneuse disease" OR "fievre boutonneuse" OR "marseilles fever" OR "tick typhus due to rickettsia conorii"

Study-type breakdown: 0 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

Confidence reasoning

  • Preferred label is multi-word and distinctive
  • No synonyms dropped by stoplist
  • "African tick typhus" also appears on ORPHA:101334

Ingested 2026-07-27T02:33:36.960Z