RARE DISEASERESEARCH ATLAS

ORPHA:168999

Malignant melanoma of the mucosa

high confidenceDisorder

Publications

88

47th percentile

Trials

0

Interventional, condition-specific

Researchers

489

Distinct authors in sample

Gene link

Readiness

2/6

Stages with a signal

Clinical definition (Orphanet)

A rare, aggressive, neoplastic disease characterized by the presence of a melanocyte tumor that develops in any mucosal membrane. Clinical manifestations vary depending on the site of occurrence.

How rare: 1-9 / 1 000 000 — roughly one to nine people per million. In a city the size of Kolkata, perhaps a few dozen.

Orphanet entry

Cross-references

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

Additional Mondo synonyms (3)

melanoma (disease) of mucosa · mucosa melanoma · mucosa melanoma (disease)

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

No specific-condition interventional trial, but broader-category trials exist — discuss eligibility with a clinician.

  1. Gene identifiedNot found

    No GenCC disease–gene assertion in this build

  2. LiteraturePresent

    88 matched papers (47 in last 10 years) Source

  3. Phenotype characterisedNot found

    No HPO disease–phenotype associations via Monarch for these Mondo IDs

  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 trialPartial

    None under the specific name; 2902 for broader category melanoma

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)

None returned for this Mondo ID. That often means “not linked under this ID,” not “no clinical features.”

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?

88

88 papers have ever been published on this condition (under this name). For scale, breast cancer has over 700,000. Median papers in the last 10 years for a rare disease in this dataset (publications denominator n=3967) is 59.

88 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).

47 in the last 10 years · high confidence · 47th percentile (publications denominator)

Phrase hits: 88 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

489

Distinct author names in 88 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.

  1. 01
    Wang Y3 papers · 2024

    Center Laboratory, Peking University Hospital of Stomatology, Haidian, Beijing 100081, P.R. China.

    Papers in Europe PMC
  2. 02
    Li J2 papers · 2024

    1 Peking University Cancer Hospital & Institute, Beijing 100142, China ; 2 People's Liberation Army (PLA) 81 Hospital, Nanjing 210002, China ; 3 Peking University International Hospital, Beijing 100089, China ; 4 Sun Yat-sen University Cancer Center, Guangzhou 510060, China ; 5 Beijing Tongren Hospital Affiliated to Capital Medical University, Beijing 100730, China ; 6 PLA General Hospital (304 Hospital), Beijing 100048, China ; 7 Zhejiang Provincial Tumor Hospital, Hangzhou 310022, China ; 8 First Affiliated Hospital of Anhui Medical University, Hefei 230022, China ; 9 Cancer Institute & Hospital, China Academy of Medical Sciences, Beijing 100021, China ; 10 Southwest Hospital & Third Military Medical University Affiliated First Hospital, Chongqing 400038, China ; 11 First Affiliated Hospital of Dalian Medical University, Dalian 116011, China ; 12 Sichuan Provincial People's Hospital, Chengdu 610072, China ; 13 Xi'an Jiao Tong University Affiliated First Hospital, Xi'an 710061, China ; 14 Beijing Jishuitan Hospital & Fourth Clinical College of Peking University, Beijing 100035, China ; 15 Sir Run Run Shaw Hospital Affiliated to Zhejiang University School of Medicine, Hangzhou 310016, China ; 16 Nineth People's Hospital of Shanghai Jiao Tong University School of Medicine, Shanghai 200011, China ; 17 Tianjin Medical University Affiliated Tumor Hospital, Tianjin 300321, China ; 18 Jiangsu Provincial People's Hospital & First affiliated hospital of Nanjing Medical University, Nanjing 210036, China ; 19 Yunnan Provincial Tumor Hospital, Nanjing 210029, China ; 20 First Affiliated Hospital of Suzhou University, Suzhou 215006, China ; 21 General Hospital of Jinan Military Command, Jinan 250031, China ; 22 Jilin University First Hospital, Changchun 130021, China ; 23 Southern Hospital, Southern Medical University, Guangzhou 510515, China ; 24 Fudan University Affiliated Tumor Hospital, Shanghai 200032, China.

    Papers in Europe PMC
  3. 03
    Lourenço SV2 papers · 2017

    Department of General Pathology, Dental School, University of São Paulo, São Paulo, Brazil. silvialourenco@usp.br

    Papers in Europe PMC
  4. 04
    Matsuda T2 papers · 2025

    Division of International Health Policy Research, Institution for Cancer Control, National Cancer Center, Tokyo, Japan.

    Papers in Europe PMC
  5. 05
    Pan H2 papers · 2024

    1 Peking University Cancer Hospital & Institute, Beijing 100142, China ; 2 People's Liberation Army (PLA) 81 Hospital, Nanjing 210002, China ; 3 Peking University International Hospital, Beijing 100089, China ; 4 Sun Yat-sen University Cancer Center, Guangzhou 510060, China ; 5 Beijing Tongren Hospital Affiliated to Capital Medical University, Beijing 100730, China ; 6 PLA General Hospital (304 Hospital), Beijing 100048, China ; 7 Zhejiang Provincial Tumor Hospital, Hangzhou 310022, China ; 8 First Affiliated Hospital of Anhui Medical University, Hefei 230022, China ; 9 Cancer Institute & Hospital, China Academy of Medical Sciences, Beijing 100021, China ; 10 Southwest Hospital & Third Military Medical University Affiliated First Hospital, Chongqing 400038, China ; 11 First Affiliated Hospital of Dalian Medical University, Dalian 116011, China ; 12 Sichuan Provincial People's Hospital, Chengdu 610072, China ; 13 Xi'an Jiao Tong University Affiliated First Hospital, Xi'an 710061, China ; 14 Beijing Jishuitan Hospital & Fourth Clinical College of Peking University, Beijing 100035, China ; 15 Sir Run Run Shaw Hospital Affiliated to Zhejiang University School of Medicine, Hangzhou 310016, China ; 16 Nineth People's Hospital of Shanghai Jiao Tong University School of Medicine, Shanghai 200011, China ; 17 Tianjin Medical University Affiliated Tumor Hospital, Tianjin 300321, China ; 18 Jiangsu Provincial People's Hospital & First affiliated hospital of Nanjing Medical University, Nanjing 210036, China ; 19 Yunnan Provincial Tumor Hospital, Nanjing 210029, China ; 20 First Affiliated Hospital of Suzhou University, Suzhou 215006, China ; 21 General Hospital of Jinan Military Command, Jinan 250031, China ; 22 Jilin University First Hospital, Changchun 130021, China ; 23 Southern Hospital, Southern Medical University, Guangzhou 510515, China ; 24 Fudan University Affiliated Tumor Hospital, Shanghai 200032, China.

    Papers in Europe PMC
  6. 06
    Soares FA2 papers · 2009
    Papers in Europe PMC
  7. 07
    Sunami K2 papers · 2024

    Department of Laboratory Medicine, National Cancer Center Hospital, Tokyo, Japan.

    Papers in Europe PMC
  8. 08
    Wang B2 papers · 2015

    1 Peking University Cancer Hospital & Institute, Beijing 100142, China ; 2 People's Liberation Army (PLA) 81 Hospital, Nanjing 210002, China ; 3 Peking University International Hospital, Beijing 100089, China ; 4 Sun Yat-sen University Cancer Center, Guangzhou 510060, China ; 5 Beijing Tongren Hospital Affiliated to Capital Medical University, Beijing 100730, China ; 6 PLA General Hospital (304 Hospital), Beijing 100048, China ; 7 Zhejiang Provincial Tumor Hospital, Hangzhou 310022, China ; 8 First Affiliated Hospital of Anhui Medical University, Hefei 230022, China ; 9 Cancer Institute & Hospital, China Academy of Medical Sciences, Beijing 100021, China ; 10 Southwest Hospital & Third Military Medical University Affiliated First Hospital, Chongqing 400038, China ; 11 First Affiliated Hospital of Dalian Medical University, Dalian 116011, China ; 12 Sichuan Provincial People's Hospital, Chengdu 610072, China ; 13 Xi'an Jiao Tong University Affiliated First Hospital, Xi'an 710061, China ; 14 Beijing Jishuitan Hospital & Fourth Clinical College of Peking University, Beijing 100035, China ; 15 Sir Run Run Shaw Hospital Affiliated to Zhejiang University School of Medicine, Hangzhou 310016, China ; 16 Nineth People's Hospital of Shanghai Jiao Tong University School of Medicine, Shanghai 200011, China ; 17 Tianjin Medical University Affiliated Tumor Hospital, Tianjin 300321, China ; 18 Jiangsu Provincial People's Hospital & First affiliated hospital of Nanjing Medical University, Nanjing 210036, China ; 19 Yunnan Provincial Tumor Hospital, Nanjing 210029, China ; 20 First Affiliated Hospital of Suzhou University, Suzhou 215006, China ; 21 General Hospital of Jinan Military Command, Jinan 250031, China ; 22 Jilin University First Hospital, Changchun 130021, China ; 23 Southern Hospital, Southern Medical University, Guangzhou 510515, China ; 24 Fudan University Affiliated Tumor Hospital, Shanghai 200032, China.

    Papers in Europe PMC
  9. 09
    Wang S2 papers · 2024

    Center Laboratory, Peking University Hospital of Stomatology, Haidian, Beijing 100081, P.R. China.

    Papers in Europe PMC
  10. 10
    Yamamoto N2 papers · 2024

    Department of Experimental Therapeutics, National Cancer Center Hospital, Tokyo, Japan.

    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). 2,902 trials are registered for melanoma, the broader category — shown separately because they may or may not enrol this specific subtype.

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.

2,902 interventional trials matched melanoma, the broader category — listed below. Those studies are not counted in the condition-specific total.

Broader category: melanoma

2,902

Interventional trials for the parent category, exclusive of NCT IDs already counted above. Eligibility for this subtype is not guaranteed.

Worth raising with a clinician. How we count trials.

Recruiting under the broader category

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 2 · after dedupe 2 · already on CT.gov 0 · kept 0 · parent 0 · uncertain 2 · 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 (2)

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 Malignant melanoma of the mucosa — 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.

"Malignant melanoma of the mucosa" OR "Malignant melanoma of mucosa" OR "melanoma (disease) of mucosa" OR "melanoma (disease) of the mucosa" OR "mucosa melanoma" OR "mucosa melanoma (disease)"

Run this search on Europe PMC

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

"Malignant melanoma of the mucosa" OR "Malignant melanoma of mucosa" OR "melanoma (disease) of mucosa" OR "melanoma (disease) of the mucosa" OR "mucosa melanoma" OR "mucosa melanoma (disease)"

Study-type breakdown: 0 interventional · 0 observational · 0 expanded access. Only interventional studies enter the trial headline.

Parent-category trials query:

"melanoma"

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 2026-07-27T08:33:53.133Z