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ORPHA:247798

MUTYH-related polyposis

low confidenceDisorder

Also known as: MUTYH-related adenomatous polyposis

Publications

6,995

Trials

1

Interventional, condition-specific

Researchers

1,458

Distinct authors in sample

Gene link

MUTYH

Definitive

Readiness

4/6

Stages with a signal

Orphanet entry

Cross-references

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

Additional Mondo synonyms (9)

FAP2 · MAP · MUTYH-associated polyposis · MUTYH-related AFAP · adenomas, multiple colorectal, autosomal recessive · colorectal adenomatous polyposis, autosomal recessive · familial adenomatous polyposis 2 · familial adenomatous polyposis, 2 · familial adenomatous polyposis, type 2

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.”

4/6 stages with a signal

An interventional trial matched this condition name on ClinicalTrials.gov — see trials below.

  1. Gene identifiedPresent

    Definitive — MUTYH

  2. LiteraturePresent

    6,995 matched papers (5,039 in last 10 years) Source

  3. Phenotype characterisedPresent

    9 HPO annotations (e.g. Adenomatous colonic polyposis; Large intestinal polyposis; Rectal polyposis) Source

  4. Animal modelNot found

    No Alliance genotype “model of” associations via Monarch for these Mondo IDs

  5. Orphan designationNot found

    No FDA or EMA orphan-drug designation matched this disease via UMLS or preferred name Source

  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?

Yes — we know a specific gene responsible (MUTYH).

GenCC classification: Definitive.

Phenotypes (Monarch / HPO)

9

Associated phenotypes · MONDO:0012041

  • Adenomatous colonic polyposis
  • Large intestinal polyposis
  • Rectal polyposis
  • Congenital hypertrophy of retinal pigment epithelium

Showing 4 of 9 — open Monarch for the full list.

Animal models (Monarch / Alliance)

None returned for this Mondo ID. Empty here is not proof that no model organism work exists under another name or gene.

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)

No designation matched this disease via UMLS or preferred name on the FDA OOPD mirror or EMA orphan register. Absence here is not proof that none exists under another wording.

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?

6,995

6,995 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.

6,995 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).

5,039 in the last 10 years · low confidence

Phrase hits: 1,473 · MeSH hits: 5

Open Europe PMC search

Who's working on it?

1,458

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
    Latchford A9 papers · 2025

    The St Mark's Centre for Familial Intestinal Cancer, St Mark's Hospital, London North West University Healthcare NHS Trust, London, UK.

    Papers in Europe PMC
  2. 02
    Wang Y5 papers · 2026

    Department of Breast Medicine 1, Cancer Hospital of China Medical University, Liaoning Cancer Hospital, Shenyang, China.

    Papers in Europe PMC
  3. 03
    Viel A4 papers · 2025

    Experimental Oncology 1, CRO Aviano National Cancer Institute, Aviano, Italy.

    Papers in Europe PMC
  4. 04
    Barana D3 papers · 2025

    Oncology Unit, Local Health and Social Care Unit, ULSS8 Berica, Montecchio Maggiore, Italy.

    Papers in Europe PMC
  5. 05
    Chen J3 papers · 2026

    Department of Lung Cancer Surgery, Center of Thoracic Surgery, Tianjin Medical University General Hospital Tianjin 300052, People's Republic of China.

    Papers in Europe PMC
  6. 06
    Cuthill V3 papers · 2025

    The St Mark's Centre for Familial Intestinal Cancer, St Mark's Hospital, London North West University Healthcare NHS Trust, London, UK.

    Papers in Europe PMC
  7. 07
    Dekker E3 papers · 2025

    Cancer Center Amsterdam, Laboratory for Experimental Oncology and Radiobiology, Center for Experimental and Molecular Medicine, Amsterdam, The Netherlands.

    Papers in Europe PMC
  8. 08
    Karstensen JG3 papers · 2026

    Faculty of Health and Medical Sciences, University of Copenhagen, København, Denmark.

    Papers in Europe PMC
  9. 09
    Li H3 papers · 2025

    School of Nursing, Jilin University, Changchun, Jilin, China.

    Papers in Europe PMC
  10. 10
    Li Z3 papers · 2025

    State Key Laboratory of Oncology in South China, Guangdong Provincial Clinical Research Center for Cancer, Sun Yat-sen University Cancer Center, Guangzhou, 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.

Data as of 11 September 2026 · last trial check 28 July 2026

1 interventional trial — more than 77.2% of diseases in the trials denominator have none at all (5501 of 7126; this disease is at the 80.1th percentile).

low confidence · 80.1th 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.

Observational and natural-history studies

2 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.

None of the matched observational studies is currently listed as 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 0 · after dedupe 0 · already on CT.gov 0 · kept 0 · parent 0 · uncertain 0 · 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).

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 MUTYH-related 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.

("MUTYH-related polyposis" OR "MUTYH-related adenomatous polyposis" OR "MUTYH-associated polyposis" OR "MUTYH-related AFAP" OR "adenomas, multiple colorectal, autosomal recessive" OR "colorectal adenomatous polyposis, autosomal recessive" OR "familial adenomatous polyposis 2" OR "familial adenomatous polyposis, 2" OR "familial adenomatous polyposis, type 2") OR (MESH:"Colorectal Adenomatous Polyposis, Autosomal Recessive") OR ("MUTYH" OR "MUTYH syndrome" OR "MUTYH-related")

Run this search on Europe PMC

MeSH descriptor terms unioned into the query: Colorectal Adenomatous Polyposis, Autosomal Recessive

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

"MUTYH-related polyposis" OR "MUTYH-related adenomatous polyposis" OR "MUTYH-associated polyposis" OR "MUTYH-related AFAP" OR "adenomas, multiple colorectal, autosomal recessive" OR "colorectal adenomatous polyposis, autosomal recessive" OR "familial adenomatous polyposis 2" OR "familial adenomatous polyposis, 2" OR "familial adenomatous polyposis, type 2"

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

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

Run this search on ClinicalTrials.gov

Synonyms dropped by stoplist: FAP2; MAP

Confidence reasoning

  • Preferred label is multi-word and distinctive
  • 2 synonym(s) dropped by stoplist (may under-count)
  • No label/synonym collisions with other diseases in this corpus
  • Publication count (6995) is extremely high with unknown/missing prevalence — treat as possible over-matching, not proven research intensity

Ingested 2026-07-27T10:37:26.149Z