RARE DISEASERESEARCH ATLAS
Open navigation menu

ORPHA:97279

Insulinoma

medium confidenceDisorder

Publications

26,273

97.5th percentile

Trials

31

Interventional, condition-specific

Researchers

1,068

Distinct authors in sample

Gene link

—

Readiness

5/6

Stages with a signal

Clinical definition (Orphanet)

A form of functioning pancreatic neuroendocrine tumor characterized most commonly by a solitary, small pancreatic lesion that causes hyperinsulinemic .

How rare: 1-9 / 1 000 000 — roughly one to nine people per million. In a city the size of Kolkata, perhaps a few dozen.

Orphanet entry

Cross-references

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

Additional Mondo synonyms (24)

Beta cell tumor · Beta cell tumor of pancreas · Beta cell tumor of the pancreas · Beta cell tumour · Beta cell tumour of pancreas · Beta cell tumour of the pancreas · beta cell neoplasm · beta cell tumor of the pancreas · beta cell tumour of the pancreas · insulin-producing islet cell tumor · insulin-producing islet cell tumour · insulin-producing tumor of islet cells · insulin-producing tumor of the islet cells · insulin-producing tumour of islet cells · insulin-producing tumour of the islet cells · pancreatic Beta cell tumor · pancreatic Beta cell tumour · pancreatic insulin producing NET · pancreatic insulin producing neoplasm · pancreatic insulin producing tumor · pancreatic insulin producing tumour · pancreatic insulin-producing neuroendocrine tumor · pancreatic insulin-producing tumor · pancreatic insulin-producing tumour

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.”

5/6 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

    26,273 matched papers (11,809 in last 10 years) Source

  3. Phenotype characterisedPresent

    34 HPO annotations (e.g. Atypical behavior; Hyperinsulinemia; Zollinger-Ellison syndrome) Source

  4. Animal modelPresent

    2 genotype models (Mus musculus) Source

  5. Orphan designationPartial

    2 EMA designations (none yet with FDA orphan-indication approval) — e.g. Lys40(NODAGA-68Ga)NH2-exendin-4 Source

  6. Interventional trialPresent

    31 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)

34

Associated phenotypes · MONDO:0005048

  • Atypical behavior
  • Hyperinsulinemia
  • Zollinger-Ellison syndrome
  • Generalized muscle weakness
  • Primary hyperparathyroidism

Showing 5 of 34 — open Monarch for the full list.

Animal models (Monarch / Alliance)

2

Model associations linked to this Mondo ID

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)

2

Designations · no FDA orphan-indication approval yet

  • EMA Lys40(NODAGA-68Ga)NH2-exendin-4Diagnosis of insulinoma · 26/06/2020 · PositiveEMA designation
  • EMA ErsodetugTreatment of insulinoma · 12/01/2024 · PositiveEMA designation

Sources: FDA OOPD · EMA orphan designations

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?

26,273

26,273 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.

26,273 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).

11,809 in the last 10 years · medium confidence · 97.5th percentile (publications denominator)

Phrase hits: 26,273 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

1,068

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
    Luo Y5 papers · 2025

    Department of Nuclear Medicine, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing, P. R. China. luoyaping@live.com.

    Papers in Europe PMC
  2. 02
    Xu Q5 papers · 2026

    Department of General Surgery, Peking Union Medical College Hospital, Chinese Academy of Medical Science and Peking Union Medical College, Beijing, China.

    Papers in Europe PMC
  3. 03
    Feng J4 papers · 2025

    Department of Pathology, Children's Hospital of Fudan University, Shanghai, China.

    Papers in Europe PMC
  4. 04
    Liu S4 papers · 2026

    Department of Nuclear Medicine, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing, P. R. China.

    Papers in Europe PMC
  5. 05
    Pan Q4 papers · 2025

    From the Department of Nuclear Medicine, State Key Laboratory of Complex Severe and Rare Diseases, Beijing Key Laboratory of Molecular Targeted Diagnosis and Therapy in Nuclear Medicine, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences, Peking Union Medical College, Beijing, China.

    Papers in Europe PMC
  6. 06
    Verma P4 papers · 2026

    Homi Bhabha National Institute, Anushaktinagar, Mumbai, 400094, India.

    Papers in Europe PMC
  7. 07
    Wang X4 papers · 2026

    State Key Laboratory of Complex Severe and Rare Diseases, Beijing, China.

    Papers in Europe PMC
  8. 08
    Zhang H4 papers · 2026

    Department of Nuclear Medicine, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing, P. R. China.

    Papers in Europe PMC
  9. 09
    Chen J3 papers · 2026

    Department of Pathology, Peking Union Medical College Hospital, Peking Union Medical College, Chinese Academy of Medical Sciences, Beijing, China.

    Papers in Europe PMC
  10. 10
    Fujimoto H3 papers · 2026

    Radioisotope Research Center, Agency for Health, Safety and Environment, Kyoto University, Kyoto, Japan.

    Papers in Europe PMC

Clinical research

Is a treatment being tested?

31

interventional trials for this specific condition

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

Data as of 11 September 2026

31 interventional trials — more than 77.2% of diseases in the trials denominator have none at all (5501 of 7126; this disease is at the 96.1th percentile).

medium confidence · 96.1th percentile (trials denominator)

Recruiting interventional trials

From the matched ClinicalTrials.gov set

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

Observational and natural-history studies

8 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 18 · after dedupe 18 · already on CT.gov 0 · kept 0 · parent 0 · uncertain 18 · 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 (18)

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 Insulinoma — 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.

"Insulinoma" OR "Beta cell tumor" OR "Beta cell tumor of pancreas" OR "Beta cell tumor of the pancreas" OR "Beta cell tumour" OR "Beta cell tumour of pancreas" OR "Beta cell tumour of the pancreas" OR "beta cell neoplasm" OR "insulin-producing islet cell tumor" OR "insulin-producing islet cell tumour" OR "insulin-producing tumor of islet cells" OR "insulin-producing tumor of the islet cells" OR "insulin-producing tumour of islet cells" OR "insulin-producing tumour of the islet cells" OR "pancreatic Beta cell tumor" OR "pancreatic Beta cell tumour" OR "pancreatic insulin producing NET" OR "pancreatic insulin producing neoplasm" OR "pancreatic insulin producing tumor" OR "pancreatic insulin producing tumour" OR "pancreatic insulin-producing neuroendocrine tumor" OR "pancreatic insulin-producing tumor" OR "pancreatic insulin-producing tumour"

Run this search on Europe PMC

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

"Insulinoma" OR "Beta cell tumor" OR "Beta cell tumor of pancreas" OR "Beta cell tumor of the pancreas" OR "Beta cell tumour" OR "Beta cell tumour of pancreas" OR "Beta cell tumour of the pancreas" OR "beta cell neoplasm" OR "insulin-producing islet cell tumor" OR "insulin-producing islet cell tumour" OR "insulin-producing tumor of islet cells" OR "insulin-producing tumor of the islet cells" OR "insulin-producing tumour of islet cells" OR "insulin-producing tumour of the islet cells" OR "pancreatic Beta cell tumor" OR "pancreatic Beta cell tumour" OR "pancreatic insulin producing NET" OR "pancreatic insulin producing neoplasm" OR "pancreatic insulin producing tumor" OR "pancreatic insulin producing tumour" OR "pancreatic insulin-producing neuroendocrine tumor" OR "pancreatic insulin-producing tumor" OR "pancreatic insulin-producing tumour"

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: 31 interventional · 8 observational · 2 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

Ingested 2026-07-27T05:05:09.865Z