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ORPHA:733

Familial adenomatous polyposis

medium confidenceDisorder

Also known as: Colorectal adenomatous polyposis · FAP · Familial polyposis coli

Publications

40,890

99.2th percentile

Trials

62

Interventional, condition-specific

Researchers

1,305

Distinct authors in sample

Gene link

—

Readiness

2/6

Stages with a signal

Clinical definition (Orphanet)

A rare intestinal polyposis syndrome characterized by the development of up to hundreds to thousands of adenomas in the large bowel. It is a multi-system disorder with important extracolonic manifestations.

How rare: 1-9 / 100 000 — about one to nine people per hundred thousand.

Orphanet entry

Cross-references

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

Additional Mondo synonyms (12)

Familial Adenomatous Polyposis · adenomatous polyposis coli · classic FAP · classic familial adenomatous polyposis · colorectal adenomatous polyposis · familial adenomatous polyposis · familial adenomatous polyposis coli · familial adenomatous polyposis syndrome · familial polyposis · familial polyposis coli · hereditary adenomatous polyposis coli · polyposis coli

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

    40,890 matched papers (18,685 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

    62 matched on ClinicalTrials.gov (14 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?

40,890

40,890 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=5449) is 41.

40,890 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).

18,685 in the last 10 years · medium confidence · 99.2th percentile (publications denominator)

Phrase hits: 40,890 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

1,305

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
    Aelvoet AS7 papers · 2026

    Department of Gastroenterology and Hepatology, Amsterdam UMC, University of Amsterdam, Amsterdam, the Netherlands.

    Papers in Europe PMC
  2. 02
    Dekker E7 papers · 2026

    Department of Gastroenterology and Hepatology, Amsterdam UMC, University of Amsterdam, Amsterdam, the Netherlands.

    Papers in Europe PMC
  3. 03
    Takeuchi Y6 papers · 2026

    Department of Gastrointestinal Oncology, Osaka International Cancer Institute, Osaka, Japan. yojit1@mac.com.

    Papers in Europe PMC
  4. 04
    Burke CA5 papers · 2026

    Department of Gastroenterology, Hepatology, & Nutrition, Digestive Disease Institute, Cleveland Clinic, Cleveland, OH 44195, USA.

    Papers in Europe PMC
  5. 05
    Li Y5 papers · 2026

    Department of Pathology, First Affiliated Hospital of Fujian Medical University, Fuzhou, Fujian, China.

    Papers in Europe PMC
  6. 06
    Liska D5 papers · 2026

    Department of Colorectal Surgery, Digestive Disease Institute, Cleveland Clinic, Cleveland, OH, USA; Sanford R. Weiss, MD Center for Hereditary Colorectal Neoplasia, Department of Colorectal Surgery, Digestive Disease Institute, Cleveland Clinic, Cleveland, OH, USA. Electronic address: liskad@ccf.org.

    Papers in Europe PMC
  7. 07
    Bastiaansen BAJ4 papers · 2026

    Department of Gastroenterology and Hepatology, Amsterdam UMC, University of Amsterdam, Amsterdam, the Netherlands.

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

    Department of Digestive Tract and General Surgery, Saitama Medical Center, Saitama Medical University, Saitama, Japan.

    Papers in Europe PMC
  9. 09
    Ishikawa H4 papers · 2025

    Ishikawa Gastroenterology Clinic, Osaka, Japan.

    Papers in Europe PMC
  10. 10
    Karstensen JG4 papers · 2026

    Danish Polyposis Register, Gastro Unit, Copenhagen University Hospital - Amager and Hvidovre, Hvidovre, Denmark. john.gasdal.karstensen@regionh.dk.

    Papers in Europe PMC

Clinical research

Is a treatment being tested?

62

interventional trials for this specific condition

62 interventional trials matched this specific condition name; 14 currently recruiting in our sample.

Data as of 27 July 2026

62 interventional trials — more than 73% of diseases in the trials denominator have none at all (5114 of 7003; this disease is at the 97.5th percentile).

medium confidence · 97.5th percentile (trials denominator)

Recruiting interventional trials

From the matched ClinicalTrials.gov set

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

Observational and natural-history studies

24 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.

"Familial adenomatous polyposis" OR "Colorectal adenomatous polyposis" OR "Familial polyposis coli" OR "adenomatous polyposis coli" OR "classic FAP" OR "classic familial adenomatous polyposis" OR "familial adenomatous polyposis coli" OR "familial adenomatous polyposis syndrome" OR "familial polyposis" OR "hereditary adenomatous polyposis coli" OR "polyposis coli"

Run this search on Europe PMC

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

"Familial adenomatous polyposis" OR "Colorectal adenomatous polyposis" OR "Familial polyposis coli" OR "adenomatous polyposis coli" OR "classic FAP" OR "classic familial adenomatous polyposis" OR "familial adenomatous polyposis coli" OR "familial adenomatous polyposis syndrome" OR "familial polyposis" OR "hereditary adenomatous polyposis coli" OR "polyposis coli"

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: 62 interventional · 24 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

Synonyms dropped by stoplist: FAP

Confidence reasoning

  • Preferred label is multi-word and distinctive
  • 1 synonym(s) dropped by stoplist (may under-count)
  • No label/synonym collisions with other diseases in this corpus

Ingested 2026-07-26T15:06:29.337Z