ORPHA:247798
MUTYH-related polyposis
Also known as: MUTYH-related adenomatous polyposis
Publications
1,473
Trials
2
Interventional, condition-specific
Researchers
1,458
Distinct authors in sample
Gene link
MUTYH
Definitive
Readiness
3/6
Stages with a signal
Cross-references
Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.
- MONDO:0012041
- MeSH:C563924
- OMIM:608456
- UMLS:C3272841
- NCIT:C96520
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.”
3/6 stages with a signal
An interventional trial matched this condition name on ClinicalTrials.gov — see trials below.
- Gene identifiedPresent
Definitive — MUTYH
- LiteraturePresent
1,473 matched papers (997 in last 10 years) Source
- Phenotype characterisedNot checked
Not yet enriched from Monarch / HPO
- Animal modelNot checked
Not yet enriched from Monarch / Alliance
- Orphan designationNot checked
FDA/EMA orphan-drug designation not enriched yet
- Interventional trialPresent
2 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?
Yes — we know a specific gene responsible (MUTYH).
GenCC classification: Definitive.
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?
1,473
1,473 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.
1,473 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).
997 in the last 10 years · low confidence
Phrase hits: 1,473 · MeSH hits: 5
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.
- 01Latchford 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 - 02Wang Y5 papers · 2026
Department of Breast Medicine 1, Cancer Hospital of China Medical University, Liaoning Cancer Hospital, Shenyang, China.
Papers in Europe PMC - 03Viel A4 papers · 2025
Experimental Oncology 1, CRO Aviano National Cancer Institute, Aviano, Italy.
Papers in Europe PMC - 04Barana D3 papers · 2025
Oncology Unit, Local Health and Social Care Unit, ULSS8 Berica, Montecchio Maggiore, Italy.
Papers in Europe PMC - 05Chen 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 - 06Cuthill 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 - 07Dekker 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 - 08Karstensen JG3 papers · 2026
Faculty of Health and Medical Sciences, University of Copenhagen, København, Denmark.
Papers in Europe PMC - 09Li H3 papers · 2025
School of Nursing, Jilin University, Changchun, Jilin, China.
Papers in Europe PMC - 10Li 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?
2
interventional trials for this specific condition
2 interventional trials matched this specific condition name; 1 currently recruiting in our sample.
Data as of 27 July 2026
2 interventional trials — more than 73% of diseases in the trials denominator have none at all (5114 of 7003; this disease is at the 82.4th percentile).
low confidence · 82.4th percentile (trials denominator)
Recruiting interventional trials
From the matched ClinicalTrials.gov set
2 interventional trials matched after quoted-phrase search and title/condition post-filter.
- NCT06712095·RECRUITING·Video Capsule Examination in Patients With Lynch Syndrome
Conditions: Lynch Syndrome · Li Fraumeni Syndrome · PTEN Hamartoma Syndrome · FAP·Matched via recall expansion
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.
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 2026-07-26This 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"
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" OR "MUTYH"
Recall-expansion terms: MUTYH
Interventional trials matched via: phrase, recall-expansion (mesh = registered under a MeSH descriptor no name phrase would catch; recall-expansion = gene / selected parent terms used only for trials).
Study-type breakdown: 2 interventional · 2 observational · 0 expanded access. Only interventional studies enter the trial headline.
Query health: ok — strategies attempted: phrase, mesh, recall-expansion; with hits: phrase, mesh, recall-expansion
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 (1473) is extremely high with unknown/missing prevalence — treat as possible over-matching, not proven research intensity
Ingested 2026-07-27T10:37:26.149Z