ORPHA:587
Muir-Torre syndrome
Also known as: Multiple keratoacanthoma, Muir-Torre type
Publications
1,208
Trials
1
Interventional, condition-specific
Researchers
991
Distinct authors in sample
Gene link
—
Readiness
2/6
Stages with a signal
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.
- Gene identifiedNot found
No GenCC disease–gene assertion in this build
- LiteraturePresent
1,208 matched papers (579 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
1 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?
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?
1,208
1,208 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.
1,208 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).
579 in the last 10 years · low confidence
Phrase hits: 1,208 · MeSH hits: 0
Who's working on it?
991
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.
- 01Li J4 papers · 2024
Department of Ocular Oncology, Beijing Tongren Hospital, Capital Medical University, 100730, Beijing, China.
Papers in Europe PMC - 02Shaker N4 papers · 2024
University of Pittsburgh Medical Center Health System, Pittsburgh, PA, USA.
Papers in Europe PMC - 03Kibbi N3 papers · 2023
Department of Dermatology, Stanford University School of Medicine, Stanford, California.
Papers in Europe PMC - 04Rajan N3 papers · 2023
Translational and Clinical Research Institute, Newcastle University, Newcastle upon Tyne, United Kingdom; Department of Dermatology, Royal Victoria Infirmary, Newcastle upon Tyne, United Kingdom. Electronic address: neil.rajan@ncl.ac.uk.
Papers in Europe PMC - 05Aasi SZ2 papers · 2023
Department of Dermatology, Stanford University School of Medicine, Palo Alto, California.
Papers in Europe PMC - 06Ahuja K2 papers · 2024
Eastern Virginia Medical School, Norfolk, VA, USA. Electronic address: ahujak@evms.edu.
Papers in Europe PMC - 07Arai M2 papers · 2023
Center for Genetics and Medical Care, Toranomon Hospital, 2-2-2 Toranomon Minato-ku, 105-8470, Tokyo, Japan.
Papers in Europe PMC - 08Ben Rejeb M2 papers · 2022
Oral and Maxillofacial Surgery Department Sahloul Univerisity Hospital Sousse Tunisia.
Papers in Europe PMC - 09Brownell I2 papers · 2023
Dermatology Branch, National Institute of Arthritis and Musculoskeletal and Skin Diseases, National Institutes of Health, Bethesda, Maryland.
Papers in Europe PMC - 10Buchanan DD2 papers · 2025
Colorectal Oncogenomics Group, Department of Clinical Pathology, Victorian Comprehensive Cancer Centre, The University of Melbourne, Melbourne, Victoria, Australia; Victorian Comprehensive Cancer Centre, University of Melbourne Centre for Cancer Research, Melbourne, Victoria, Australia; Genomic Medicine and Family Cancer Clinic, Royal Melbourne Hospital, Parkville, Victoria, Australia.
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; 1 currently recruiting in our sample.
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).
low 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.
- NCT07201012·RECRUITING·Determining the Prevalence of Muir-Torre Syndrome in Patients With Lynch Syndrome
Conditions: Basal Cell Carcinoma of Skin, Site Unspecified · Epidermoid Carcinoma · Lynch Syndrome · Muir-Torre Syndrome·Matched via name phrase
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.
"Muir-Torre syndrome" OR "Multiple keratoacanthoma, Muir-Torre type"
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Muir-Torre syndrome" OR "Multiple keratoacanthoma, Muir-Torre type"
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 · 0 observational · 0 expanded access. Only interventional studies enter the trial headline.
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
- No Orphanet definition and no Mondo IDs — likely taxonomy scaffolding; confidence capped at low
Ingested 2026-07-26T14:27:58.436Z