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ORPHA:1957

Esthesioneuroblastoma

low confidenceDisorder

Also known as: Olfactory neuroblastoma

Publications

3,783

Trials

22

Interventional, condition-specific

Researchers

1,304

Distinct authors in sample

Gene link

—

Readiness

2/6

Stages with a signal

Clinical definition (Orphanet)

Esthesioneuroblastoma (ENB) is a rare malignant neoplasm of the sinonasal cavity, arising from the basal layers of olfactory neuroepithelial cells in the superior nasal vault, which usually occurs in the 5th to 6th decades of life and is characterized clinically by non-specific symptoms such as ipsilateral nasal block, sinusitis, facial pain, intermittent headaches, hyposmia/dysosmia, rhinorrhea and epistaxis as well as proptosis, diplopia and excessive lacrimation due to orbital extension. With early treatment and in the absence of distant metastases, ENB appears to have a good prognosis (compared to other superior nasal malignancies), despite a high rate of cervical metastases.

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.

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

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

    3,783 matched papers (1,824 in last 10 years) Source

  3. Phenotype characterisedNot checked

    Not yet enriched from Monarch / HPO

  4. Animal modelNot checked

    Not yet enriched from Monarch / Alliance

  5. Orphan designationNot checked

    FDA/EMA orphan-drug designation not enriched yet

  6. Interventional trialPresent

    22 matched on ClinicalTrials.gov (8 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)

Not enriched in this build — Monarch phenotype joins were not run for this record.

Animal models (Monarch / Alliance)

Not enriched in this build.

Literature

Is anyone studying this?

3,783

3,783 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=5449) is 41.

3,783 papers since the earliest indexed year in this search — median last-10-year count for a rare disease in this dataset is 41 (publications denominator n=5449).

1,824 in the last 10 years · low confidence

Phrase hits: 3,783 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

1,304

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
    Choby G12 papers · 2026

    Department of Otolaryngology - Head & Neck Surgery, Mayo Clinic, Rochester, Minnesota, United States.

    Papers in Europe PMC
  2. 02
    Wang EW10 papers · 2026

    Department of Otolaryngology-Head and Neck Surgery, University of Pittsburgh Medical Center, Pittsburgh, Pennsylvania, USA.

    Papers in Europe PMC
  3. 03
    Thorp BD9 papers · 2026

    Department of Otolaryngology-Head and Neck Surgery, University of North Carolina, Chapel Hill, North Carolina, USA.

    Papers in Europe PMC
  4. 04
    Geltzeiler M8 papers · 2026

    Department of Otolaryngology-Head and Neck Surgery, Oregon Health & Science University, Portland, Oregon, USA.

    Papers in Europe PMC
  5. 05
    Snyderman CH8 papers · 2026

    Department of Otolaryngology, University of Pittsburgh School of Medicine, Pittsburgh, Pennsylvania, United States.

    Papers in Europe PMC
  6. 06
    London NR Jr7 papers · 2026

    Sinonasal and Skull Base Tumor Section, Surgical Oncology Program, Center for Cancer Research, National Cancer Institute, National Institutes of Health, Bethesda, MD, USA.

    Papers in Europe PMC
  7. 07
    Agaimy A6 papers · 2026

    Comprehensive Cancer Center (CCC) Erlangen-EMN, Institute of Pathology, University Hospital Erlangen, Erlangen, Germany.

    Papers in Europe PMC
  8. 08
    Kuan EC6 papers · 2026

    Department of Otolaryngology-Head and Neck Surgery, University of California, Irvine, California, USA.

    Papers in Europe PMC
  9. 09
    Otori N6 papers · 2026

    Department of Otorhinolaryngology, Jikei University School of Medicine, Tokyo, Japan.

    Papers in Europe PMC
  10. 10
    Takeda T6 papers · 2026

    Department of Otorhinolaryngology, Jikei University School of Medicine, Tokyo, Japan.

    Papers in Europe PMC

Clinical research

Is a treatment being tested?

22

interventional trials for this specific condition

22 interventional trials matched this specific condition name; 8 currently recruiting in our sample.

Data as of 27 July 2026

22 interventional trials — more than 73% of diseases in the trials denominator have none at all (5114 of 7003; this disease is at the 94.8th percentile).

low confidence · 94.8th percentile (trials denominator)

Recruiting interventional trials

From the matched ClinicalTrials.gov set

22 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

Where to find support

We do not yet link condition-specific patient organisations. These umbrella groups support undiagnosed and ultra-rare families:

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.

"Esthesioneuroblastoma" OR "Olfactory neuroblastoma"

Run this search on Europe PMC

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

"Esthesioneuroblastoma" OR "Olfactory neuroblastoma"

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: 22 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

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 (3783) is implausibly high for prevalence class "<1 / 1 000 000" — treat as possible over-matching, not a measure of research intensity

Ingested 2026-07-26T18:37:07.223Z