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ORPHA:228119

Fusariosis

low confidenceDisorder

Also known as: Fusarium infection

Publications

3,500

Trials

2

Interventional, condition-specific

Researchers

1,273

Distinct authors in sample

Gene link

—

Readiness

4/6

Stages with a signal

Clinical definition (Orphanet)

Fusariosis describes a superficial, locally invasive, disseminated infection with the pathogenic fungus species, Fusarium, often found in soil and water, which is mainly transmitted to humans through traumatic inoculation and that manifests with keratitis, onychomycosis and less frequently peritonitis and cellulitis. In the immunocompromised, disseminated fusariosis is more common and it manifests with refractory fever, skin lesions (ecthyma-like, target, and multiple subcutaneous nodules), severe myalgias and sino-pulmonary infections.

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 (3)

Fusarium caused disease or disorder · Fusarium disease or disorder · Fusarium 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

    3,500 matched papers (2,213 in last 10 years) Source

  3. Phenotype characterisedPresent

    47 HPO annotations (e.g. Immunodeficiency; Unusual fungal nail infection; Invasive fungal infection) Source

  4. Animal modelNot found

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

  5. Orphan designationPartial

    1 EMA designation (none yet with FDA orphan-indication approval) — e.g. Fosmanogepix Source

  6. Interventional trialPresent

    2 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)

47

Associated phenotypes · MONDO:0016426

  • Immunodeficiency
  • Unusual fungal nail infection
  • Invasive fungal infection
  • Paronychia
  • Hemoptysis

Showing 5 of 47 — 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 · no FDA orphan-indication approval yet

  • EMA FosmanogepixTreatment of fusariosis · 15/02/2023 · PositiveEMA designation

Sources: FDA OOPD · EMA orphan designations

Open Targets candidates

2

Drugs / clinical candidates · MONDO_0016426

CTD chemicals (MyDisease.info)

5 associated chemicals. Therapeutic evidence is listed first when present — not a treatment recommendation.

  • amorolfine · therapeutic
  • Amphotericin B · therapeutic
  • mancozeb · therapeutic
  • Phenylmercuric Acetate · therapeutic
  • Voriconazole · therapeutic

MyDisease.info · MONDO:0016426

Literature

Is anyone studying this?

3,500

3,500 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.

3,500 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).

2,213 in the last 10 years · low confidence

Phrase hits: 3,500 · MeSH hits: 44

Open Europe PMC search

Who's working on it?

1,273

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
    Carranco AS5 papers · 2026

    Institute of Evolutionary Ecology and Conservation Genomics, University of Ulm, Ulm, Germany.

    Papers in Europe PMC
  2. 02
    Liu X5 papers · 2026

    Jiangsu Academy of Agricultural Sciences Institute of Food Safety and Nutrition, Nanjing, Jiangsu, China; xinliu@jaas.ac.cn.

    Papers in Europe PMC
  3. 03
    Nucci M5 papers · 2026

    University Hospital, Universidade Federal do Rio de Janeiro, Rio de Janeiro, Brazil.

    Papers in Europe PMC
  4. 04
    Romo D5 papers · 2026

    Tiputini Biodiversity Station, Colegio de Ciencias Biológicas y Ambientales, Universidad San Francisco de Quito USFQ, Quito, Ecuador.

    Papers in Europe PMC
  5. 05
    Sommer S5 papers · 2026

    Institute of Evolutionary Ecology and Conservation Genomics, University of Ulm, Ulm, Germany.

    Papers in Europe PMC
  6. 06
    Wilhelm K5 papers · 2026

    Institute of Evolutionary Ecology and Conservation Genomics, University of Ulm, Ulm, Germany.

    Papers in Europe PMC
  7. 07
    Hoheneder F4 papers · 2026

    Chair of Phytopathology, TUM School of Life Sciences, Technical University of Munich, Freising, Germany.

    Papers in Europe PMC
  8. 08
    Hu J4 papers · 2026

    From the Department of Ophthalmology, Fujian Medical University Union Hospital, Fu Zhou, China. Electronic address: ophhjz@163.com.

    Papers in Europe PMC
  9. 09
    Hückelhoven R4 papers · 2026

    Chair of Phytopathology, TUM School of Life Sciences, Technical University of Munich, Freising, Germany.

    Papers in Europe PMC
  10. 10
    Kontoyiannis DP4 papers · 2026

    Department of Infectious Diseases, Infection Control and Employee Health, The University of Texas MD Anderson Cancer Center, Houston, Texas, USA.

    Papers in Europe PMC

Clinical research

Is a treatment being tested?

2

interventional trials for this specific condition

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

Data as of 11 September 2026

2 interventional trials — more than 77.2% of diseases in the trials denominator have none at all (5501 of 7126; this disease is at the 84.5th percentile).

low confidence · 84.5th percentile (trials denominator)

Recruiting interventional trials

From the matched ClinicalTrials.gov set

2 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.

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 1 · after dedupe 1 · already on CT.gov 0 · kept 0 · parent 0 · uncertain 1 · 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 (1)

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 Fusariosis — 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.

"Fusariosis" OR "Fusarium infection" OR "Fusarium infectious disease"

Run this search on Europe PMC

MeSH descriptor terms unioned into the query: Fusariosis

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

"Fusariosis" OR "Fusarium infection" OR "Fusarium infectious disease"

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: 2 interventional · 4 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: Fusarium caused disease or disorder; Fusarium 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 (3500) is extremely high with unknown/missing prevalence — treat as possible over-matching, not proven research intensity

Ingested 2026-07-27T10:02:23.894Z