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ORPHA:733

Familial adenomatous polyposis

medium confidenceDisorder

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

Publications

40,890

98.4th percentile

Trials

62

Interventional, condition-specific

Researchers

1,305

Distinct authors in sample

Gene link

—

Readiness

5/6

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.”

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

    40,890 matched papers (18,685 in last 10 years) Source

  3. Phenotype characterisedPresent

    80 HPO annotations (e.g. Pilomatrixoma; Brain neoplasm; Adenocarcinoma of the small intestine) Source

  4. Animal modelPresent

    12 genotype models (Danio rerio, Mus musculus, Rattus norvegicus) Source

  5. Orphan designationPresent

    5 FDA designations (5 FDA orphan-indication approvals) — e.g. magnesium lysinate bis eicosapentaenoate Source

  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)

80

Associated phenotypes · MONDO:0021055

  • Pilomatrixoma
  • Brain neoplasm
  • Adenocarcinoma of the small intestine
  • Epidermoid cyst
  • Colon cancer

Showing 5 of 80 — open Monarch for the full list.

Animal models (Monarch / Alliance)

12

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)

5

Designations · 5 with FDA orphan-indication approval

  • FDA magnesium lysinate bis eicosapentaenoateFamilial Adenomatous Polyposis · 2015-12-23 · Not FDA Approved for Orphan Indication
  • FDA pyrviniumFamilial Adenomatous Polyposis · 2015-01-05 · Not FDA Approved for Orphan Indication
  • FDA eicosapentaenoic acidFamilial Adenomatous Polyposis · 2011-03-08 · Not FDA Approved for Orphan Indication
  • FDA eflornithineFamilial Adenomatous Polyposis · 2011-02-04 · Not FDA Approved for Orphan Indication
  • FDA ExisulindAdenomatous Polyposis Coli Adenomatous Polyps · 1994-02-14 · Not FDA Approved for Orphan Indication

Sources: FDA OOPD · EMA orphan designations

Open Targets candidates

2

Drugs / clinical candidates · MONDO_0021055

CTD chemicals (MyDisease.info)

No CTD chemical associations returned for this Mondo ID.

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=3967) is 59.

40,890 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).

18,685 in the last 10 years · medium confidence · 98.4th 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 11 September 2026

62 interventional trials — more than 77.2% of diseases in the trials denominator have none at all (5501 of 7126; this disease is at the 97.6th percentile).

medium confidence · 97.6th 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

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 28 · after dedupe 28 · already on CT.gov 0 · kept 0 · parent 0 · uncertain 28 · dropped 0 · fetched 2026-07-29

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 (28)

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 Familial adenomatous polyposis — 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.

"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