ORPHA:404560
Familial atypical multiple mole melanoma syndrome
Also known as: B-K mole syndrome · FAMM-PC syndrome · FAMMM syndrome · Familial atypical mole syndrome · Familial atypical multiple mole melanoma-pancreatic carcinoma syndrome · Familial dysplastic nevus syndrome · Melanoma-pancreatic cancer syndrome
Publications
811
78.7th percentile
Trials
0
Interventional, condition-specific
Researchers
1,349
Distinct authors in sample
Gene link
—
Readiness
2/6
Stages with a signal
Clinical definition (Orphanet)
Familial atypical multiple mole melanoma (FAMMM) syndrome is an inherited genodermatosis characterized by the presence of multiple melanocytic nevi (often >50) and a family history of melanoma as well as, in a subset of patients, an increased risk of developing pancreatic cancer and other malignancies.
How rare: How common this is has not been clearly measured.
Cross-references
Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.
- MONDO:0018453
- UMLS:C2314896
- NCIT:C27264
Additional Mondo synonyms (6)
FAMM syndrome · familial Clark nevus syndrome · familial atypical mole melanoma syndrome · familial atypical mole syndrome · familial atypical multiple mole melanoma-pancreatic carcinoma syndrome · familial dysplastic nevus syndrome
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
Research-stage checklist from open sources (GenCC, literature, Monarch when enriched, ClinicalTrials.gov). Not a prognosis or care recommendation.
- Gene identifiedNot found
No GenCC disease–gene assertion in this build
- LiteraturePresent
811 matched papers (349 in last 10 years) Source
- Phenotype characterisedPresent
6 HPO annotations (e.g. Sarcoma; Melanoma; Pancreatic adenocarcinoma) Source
- Animal modelNot found
No Alliance genotype “model of” associations via Monarch for these Mondo IDs
- Orphan designationNot found
No FDA or EMA orphan-drug designation matched this disease via UMLS or preferred name Source
- Interventional trialNot found
No matched interventional trial under our ClinicalTrials.gov rules
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)
6
Associated phenotypes · MONDO:0018453
- Sarcoma
- Melanoma
- Pancreatic adenocarcinoma
- Squamous cell carcinoma
- Pancreatic squamous cell carcinoma
Showing 5 of 6 — 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?
811
811 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=3967) is 59.
811 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).
349 in the last 10 years · high confidence · 78.7th percentile (publications denominator)
Phrase hits: 811 · MeSH hits: 0
Who's working on it?
1,349
Distinct author names in 200 sampled papers — named people below.
Who's working on it?
No interventional trial matched this name; these authors publish on it in the sampled literature — a practical starting point for contact.
- 01Lynch HT6 papers · 2019
Department of Preventive Medicine and Public Health, Creighton University, 2500 California Plaza, Omaha NE 68178, USA. htlynch@creighton.edu.
Papers in Europe PMC - 02Hruban RH5 papers · 2020
Department of Pathology, The Sol Goldman Pancreatic Cancer Research Center, The Johns Hopkins University School of Medicine, Baltimore, MD, USA. rhruban@jhmi.edu.
Papers in Europe PMC - 03Bruno MJ4 papers · 2024
Department of Gastroenterology and Hepatology, Erasmus Medical Center, University Medical Center, Rotterdam, The Netherlands.
Papers in Europe PMC - 04Katona BW4 papers · 2025
Division of Gastroenterology and Hepatology, University of Pennsylvania Perelman School of Medicine, 3400 Civic Center Blvd. 751 South Pavilion, Philadelphia, PA, 19104, USA. bryson.katona@pennmedicine.upenn.edu.
Papers in Europe PMC - 05Klein AP4 papers · 2022
Department of Pathology, The Sol Goldman Pancreatic Cancer Research Center, The Johns Hopkins University School of Medicine, Baltimore, MD, USA.
Papers in Europe PMC - 06Lucas AL4 papers · 2023
Andrew E Becker, Yasmin G Hernandez, Aimee L Lucas, Henry D. Janowitz Division of Gastroenterology, Icahn School of Medicine at Mount Sinai, New York, NY 10029, United States.
Papers in Europe PMC - 07Brand RE3 papers · 2023
Division of Gastroenterology, Hepatology and Nutrition, University of Pittsburgh School of Medicine, Pittsburgh, Pennsylvania, USA.
Papers in Europe PMC - 08Canto MI3 papers · 2020
Department of Gastroenterology and Hepatology, Johns Hopkins Medical Institutions, Baltimore, Maryland, USA.
Papers in Europe PMC - 09Fockens P3 papers · 2024
Department of Gastroenterology and Hepatology, Academic Medical Centre, University of Amsterdam, Amsterdam, the Netherlands.
Papers in Europe PMC - 10Goggins MG3 papers · 2020
Department of Pathology, The Sol Goldman Pancreatic Cancer Research Center, The Johns Hopkins University School of Medicine, Baltimore, MD, USA.
Papers in Europe PMC
Clinical research
Is a treatment being tested?
0
interventional trials for this specific condition
No interventional trial testing a treatment matched this specific condition name on ClinicalTrials.gov (observational studies and pan-disease registries are listed separately when present).
Data as of 11 September 2026 · last trial check 11 September 2026
No matched interventional trials. This is true for 77.2% of diseases in the trials denominator (5501 of 7126). Here are the researchers publishing on it.
high confidence · 38.6th percentile (trials denominator)
Recruiting interventional trials
From the matched ClinicalTrials.gov set
No interventional trial testing a treatment was found for this specific condition name on ClinicalTrials.gov.
See who's working on it — people publishing on this disease are often the practical next contact when no trial is listed.
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 1 · after dedupe 1 · already on CT.gov 0 · kept 0 · parent 0 · uncertain 1 · 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).
Uncertain / not reviewed (1)
- isrctn·ISRCTN62546421·Recruiting·The European registry of familial pancreatic cancer and hereditary pancreatitis
skipped — LLM skipped (--skip-llm)
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 atypical multiple mole melanoma syndrome — check Associations / patient organisations on that page.
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.
"Familial atypical multiple mole melanoma syndrome" OR "B-K mole syndrome" OR "FAMM-PC syndrome" OR "FAMMM syndrome" OR "Familial atypical mole syndrome" OR "Familial atypical multiple mole melanoma-pancreatic carcinoma syndrome" OR "Familial dysplastic nevus syndrome" OR "Melanoma-pancreatic cancer syndrome" OR "FAMM syndrome" OR "familial Clark nevus syndrome" OR "familial atypical mole melanoma syndrome"
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Familial atypical multiple mole melanoma syndrome" OR "B-K mole syndrome" OR "FAMM-PC syndrome" OR "FAMMM syndrome" OR "Familial atypical mole syndrome" OR "Familial atypical multiple mole melanoma-pancreatic carcinoma syndrome" OR "Familial dysplastic nevus syndrome" OR "Melanoma-pancreatic cancer syndrome" OR "FAMM syndrome" OR "familial Clark nevus syndrome" OR "familial atypical mole melanoma syndrome"
Study-type breakdown: 0 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
Ingested 2026-07-27T15:37:16.261Z