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ORPHA:391723

Mucinous adenocarcinoma of the appendix

high confidenceDisorder

Also known as: Appendiceal mucinous adenocarcinoma

Publications

523

86.7th percentile

Trials

1

Interventional, condition-specific

Researchers

1,658

Distinct authors in sample

Gene link

—

Readiness

2/6

Stages with a signal

Clinical definition (Orphanet)

Mucinous adenocarcinoma of the appendix is a very rare, slow growing, well-differentiated epithelial neoplasm of the appendix characterized by abundant mucin production. Clinically, it presents as acute appendicitis (with abdominal pain, fever, leukocytosis) or as pseudomyxoma peritonei (wide-spread presence of mucin within the peritoneal cavity), however some patients may be completely asymptomatic at the time of diagnosis. In many cases, a second gastrointestinal malignancy is present.

Orphanet entry

Cross-references

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

Additional Mondo synonyms (3)

appendiceal mucinous adenocarcinoma · appendix mucinous adenocarcinoma · vermiform appendix mucinous adenocarcinoma

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

    523 matched papers (350 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

    1 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)

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?

523

523 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.

523 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).

350 in the last 10 years · high confidence · 86.7th percentile (publications denominator)

Phrase hits: 523 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

1,658

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
    Wang H5 papers · 2025

    From the University of Alberta.

    Papers in Europe PMC
  2. 02
    Bondzi-Simpson A4 papers · 2025

    From the University of Toronto (Zhu, Bondzi-Simpson, James, Hallet, Coburn); Queen's University (Mahar); the University of Ottawa (Hsu); ICES (Ante); the Sunnybrook Research Institute (Ip); My Gut Feeling (Kosyachkova).

    Papers in Europe PMC
  3. 03
    Chen J4 papers · 2026

    Department of Surgery, Dongguan Houjie hospital, Dongguan 523106, China.

    Papers in Europe PMC
  4. 04
    Coburn N4 papers · 2025

    From the University of Toronto (Zhu, Bondzi-Simpson, James, Hallet, Coburn); Queen's University (Mahar); the University of Ottawa (Hsu); ICES (Ante); the Sunnybrook Research Institute (Ip); My Gut Feeling (Kosyachkova).

    Papers in Europe PMC
  5. 05
    Hallet J4 papers · 2025

    From the University of Toronto (Zhu, Bondzi-Simpson, James, Hallet, Coburn); Queen's University (Mahar); the University of Ottawa (Hsu); ICES (Ante); the Sunnybrook Research Institute (Ip); My Gut Feeling (Kosyachkova).

    Papers in Europe PMC
  6. 06
    Hennessey RL4 papers · 2025

    From the University of British Columbia (El-Kefraoui, Walker, Yang, Chiu, Meneghetti, Liu Hennessey); the Vancouver General Hospital (El-Kefraoui, Walker, Yang, Chiu, Meneghetti, Liu Hennessey).

    Papers in Europe PMC
  7. 07
    Patel S4 papers · 2025

    From McMaster University (Keshavjee, McKechnie, Shi, Kuszaj, Rattansi, Forbes, Doumouras, Parpia, Bhandari, Eskicioglu); Queen's University (Brennan, Patel).

    Papers in Europe PMC
  8. 08
    Sugarbaker PH4 papers · 2024

    Program in Peritoneal Surface Malignancies, MedStar Washington Hospital Center, 106 Irving St., NW, Suite 3900, Washington, DC, 20010, USA. Electronic address: Paul.Sugarbaker@medstar.net.

    Papers in Europe PMC
  9. 09
    Wang B4 papers · 2025

    The First Clinical College of Guangzhou University of Chinese Medicine, Guangzhou, 510400, PR China.

    Papers in Europe PMC
  10. 10
    Wang J4 papers · 2026

    Traditional Chinese Medicine Department, Third Affiliated Hospital of Changchun University of Chinese Medicine, Changchun 130000, China.

    Papers in Europe PMC

Clinical research

Is a treatment being tested?

1

interventional trials for this specific condition

1 interventional trial matched this specific condition name; none in our sample are currently recruiting. 62 trials are registered for mucinous adenocarcinoma, the broader category — shown separately because they may or may not enrol this specific subtype.

Data as of 27 July 2026

1 interventional trial — more than 73% of diseases in the trials denominator have none at all (5114 of 7003; this disease is at the 76.8th percentile).

high confidence · 76.8th percentile (trials denominator)

Recruiting interventional trials

From the matched ClinicalTrials.gov set

1 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.

Broader category: mucinous adenocarcinoma

62

Interventional trials for the parent category, exclusive of NCT IDs already counted above. Eligibility for this subtype is not guaranteed.

Worth raising with a clinician. How we count trials.

Recruiting under the broader category

Observational and natural-history studies

1 observational study matches 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.

"Mucinous adenocarcinoma of the appendix" OR "Mucinous adenocarcinoma of appendix" OR "Appendiceal mucinous adenocarcinoma" OR "appendix mucinous adenocarcinoma" OR "vermiform appendix mucinous adenocarcinoma"

Run this search on Europe PMC

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

"Mucinous adenocarcinoma of the appendix" OR "Mucinous adenocarcinoma of appendix" OR "Appendiceal mucinous adenocarcinoma" OR "appendix mucinous adenocarcinoma" OR "vermiform appendix mucinous adenocarcinoma"

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: 1 interventional · 1 observational · 0 expanded access. Only interventional studies enter the trial headline.

Parent-category trials query:

"mucinous adenocarcinoma"

Query health: ok — strategies attempted: phrase; with hits: phrase

Run this search on ClinicalTrials.gov

Confidence reasoning

  • Preferred label is multi-word and distinctive
  • No synonyms dropped by stoplist
  • No label/synonym collisions with other diseases in this corpus

Ingested 2026-07-27T15:10:30.162Z