Oral mucosa leukoplakia
diseaseOn this page
Also known as leukokeratosis of oral mucosaleukoplakia of oral mucosaleukoplakia of the oral mucosaoral keratosesoral keratosisoral leukoplakia
Summary
Oral mucosa leukoplakia (MONDO:0004844) is a disease with 6 GWAS associations across 4 studies and 36 clinical trials. Top therapeutic interventions include pioglitazone, metformin, and rose bengal free acid. A subtype of leukoplakia — broader associated-gene and molecular evidence is on the parent page (see Disease family below).
At a glance
- GWAS associations: 6
- Clinical trials: 36
Clinical features
No curated clinical features (Orphanet) for this disease.
Identifiers
Disease identifiers
| Field | Value |
|---|---|
| Canonical name | oral mucosa leukoplakia |
| Mondo ID | MONDO:0004844 |
| MeSH | D007972 |
| DOID | DOID:9655 |
| ICD-11 | 417308277 |
| NCIT | C3187 |
| SNOMED CT | 414603003 |
| UMLS | C0023532 |
| MedGen | 9738 |
| Anatomy (UBERON) | UBERON:0003729 |
| Is cancer (heuristic) | no |
Also known as: leukokeratosis of oral mucosa · leukoplakia of oral mucosa · leukoplakia of the oral mucosa · oral keratoses · oral keratosis · oral leukoplakia
Data availability: 6 GWAS associations (4 studies) · 2 cell lines.
Disease family
This is a subtype of leukoplakia. Genetic, therapeutic, and trial evidence is largely curated at the broader-term level — see the parent page for the associated-gene cohort and molecular evidence.
Classification path: disease › human disease › disease by etiologic mechanism › cancer or benign tumor › precancerous condition › leukoplakia › oral mucosa leukoplakia
Related subtypes (4): leukoplakia of vagina, esophageal leukoplakia, uterine cervix leukoplakia, leukoplakia of penis
Subtypes (1): leukoplakia of gingiva
Genetics & variants
GWAS landscape
6 GWAS associations across 4 studies. Top hits map to 2 distinct genes (as reported by GWAS).
Top associations by p-value
| rsID | p-value | Gene | Risk allele | Odds ratio |
|---|---|---|---|---|
| rs544981153 | 1e-11 | ARLNC1 - CMC2 | G | 2.55 |
| rs983145042 | 2e-11 | RNU6-1197P - JPH1 | C | 3.58 |
| rs549837246 | 2e-11 | TRHDE - LINC02444 | G | 4.46 |
| rs147317011 | 3e-11 | MICA-AS1 | G | 2.64 |
| rs148051302 | 4e-11 | LINC01550 - LINC02295 | G | 2.86 |
| rs557304586 | 4e-11 | LASP1 | G | 2.06 |
Top studies (by case count)
| Study | Lead author | Year | Cases | Controls | Title |
|---|---|---|---|---|---|
| GCST90478309 | Verma A | 2024 | 1,379 | 447,337 | Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program. |
| GCST90436296 | Zhou W | 2018 | 308 | 403,323 | Efficiently controlling for case-control imbalance and sample relatedness in large-scale genetic association studies. |
| GCST90480286 | Verma A | 2024 | 235 | 121,074 | Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program. |
| GCST90482125 | Verma A | 2024 | 235 | 121,074 | Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program. |
Variant details and genetic-evidence tiers
Tier distribution (top 50 variants)
| Tier | Variants |
|---|---|
| Tier 1: coding | 0 |
| Tier 2: splice/UTR | 0 |
| Tier 3: regulatory | 0 |
| Tier 4: intronic/intergenic | 6 |
MAF distribution
| Bucket | Variants |
|---|---|
| common (>=0.05) | 0 |
| low_freq (0.01-0.05) | 0 |
| rare (<0.01) | 6 |
| unknown | 0 |
Functional consequences
| Consequence | Count |
|---|---|
| intron_variant | 6 |
Top variants
| rsID | Chr | Pos | Alleles | MAF | Consequence | Gene | p-value | Tier |
|---|---|---|---|---|---|---|---|---|
| rs544981153 | 16 | 80923858 | G>A,C | 0 | intron_variant | ARLNC1 - CMC2 | 1e-11 | Tier 4: intronic/intergenic |
| rs983145042 | 8 | 74134620 | C>T | 0 | intron_variant | RNU6-1197P - JPH1 | 2e-11 | Tier 4: intronic/intergenic |
| rs549837246 | 12 | 73013094 | G>A | 0.001 | intron_variant | TRHDE - LINC02444 | 2e-11 | Tier 4: intronic/intergenic |
| rs147317011 | 6 | 31396600 | G>A | 0.001 | intron_variant | MICA-AS1 | 3e-11 | Tier 4: intronic/intergenic |
| rs148051302 | 14 | 98103264 | G>A | 0 | intron_variant | LINC01550 - LINC02295 | 4e-11 | Tier 4: intronic/intergenic |
| rs557304586 | 17 | 38898812 | G>A,T | 0.001 | intron_variant | LASP1 | 4e-11 | Tier 4: intronic/intergenic |
Genes & proteins
No associated-gene cohort resolved for this disease. Atlas builds the molecular and therapeutic sections — associated genes, protein families, druggability, pathways, interactions, and drug associations — by aggregating over a disease’s associated genes (resolved via GWAS / GenCC / ClinVar / CIViC), and none resolved here. This is expected for antibody-mediated, autoimmune, or otherwise non-gene-defined conditions; the curated evidence for this disease is its clinical features, GWAS susceptibility, and clinical trials (above).
Function
No pathway enrichment — requires an associated-gene cohort.
Therapeutics
Drugs indicated for this disease
No approved or late-stage (phase ≥3) drug is indicated for this disease; the following are in earlier-phase trials only.
Earlier-phase candidates (phase 2, investigational — efficacy not yet established): Metformin, Nivolumab, Pembrolizumab, Pioglitazone.
Clinical trials & evidence
Clinical trials
Clinical trials: 36.
Phase distribution (across all retrieved trials)
| Phase | Trials |
|---|---|
| Not specified | 20 |
| PHASE2 | 10 |
| PHASE1 | 3 |
| PHASE4 | 1 |
| PHASE3 | 1 |
| PHASE1/PHASE2 | 1 |
Top trials by phase / activity
| NCT | Phase | Status | Title |
|---|---|---|---|
| NCT00155337 | PHASE4 | COMPLETED | Photodynamic Therapy for Oral Leukoplakia and Erythroleukoplakia |
| NCT07453472 | PHASE3 | NOT_YET_RECRUITING | Comparison of Topical Photodynamic Therapy With Topical Calcipotriol in Management of Oral Leukoplakia |
| NCT02581137 | PHASE2 | ACTIVE_NOT_RECRUITING | Metformin Hydrochloride in Preventing Oral Cancer in Patients With an Oral Premalignant Lesion |
| NCT05237960 | PHASE2 | ACTIVE_NOT_RECRUITING | Metformin for the Prevention of Oral Cancer in Patients With Oral Leukoplakia or Erythroplakia |
| NCT05727761 | PHASE2 | RECRUITING | Pioglitazone-Metformin Combination Treatment for High Risk Oral Preneoplasia |
| NCT06876038 | PHASE2 | NOT_YET_RECRUITING | Low-cost Screening and Image-guided Photodynamic Therapy (PDT) of Premalignant and Malignant Oral Lesions |
| NCT07210775 | PHASE1/PHASE2 | RECRUITING | Topical Imiquimod Treatment of Oral Dysplasia |
| NCT07387900 | PHASE2 | RECRUITING | Evaluation of the Chemo-preventive Effect of Combined Topical and Systemic Metformin on Oral Leukoplakia |
| NCT00099021 | PHASE2 | COMPLETED | Pioglitazone Hydrochloride in Preventing Head and Neck Cancer in Patients With Oral Leukoplakia |
| NCT00176566 | PHASE2 | TERMINATED | A Phase II Trial to Assess the Effects of Green Tea in Oral Leukoplakia |
| NCT00330382 | PHASE2 | COMPLETED | Bowman-Birk Inhibitor Concentrate in Preventing Cancer in Patients With Oral Leukoplakia |
| NCT00369174 | PHASE2 | COMPLETED | Rosiglitazone Maleate in Treating Patients With Oral Leukoplakia |
| NCT00951379 | PHASE2 | TERMINATED | Pioglitazone for Oral Premalignant Lesions |
| NCT07149220 | PHASE1 | RECRUITING | Fenretinide Mucoadhesive Patch: Evaluation of Oral Cancer Prevention Efficacy in Adults With Premalignant Oral Lesions. |
| NCT00571558 | PHASE1 | TERMINATED | Photodynamic Therapy Using Aminolevulinic Acid in Treating Patients With Oral Leukoplakia |
| NCT05505539 | PHASE1 | WITHDRAWN | Intralesional 5-fluorouracil Injection for the Treatment of Oral Leukoplakia |
| NCT03975322 | Not specified | RECRUITING | Prediction of Malignant Transformation of Oral Leukoplakia Using a MAGE-A-based Immunoscore |
| NCT06321003 | Not specified | RECRUITING | SYsteMatical Trained learnIng aLgorithms for Oral carcInogenesiS Interpretation by Optical Coherence Tomography |
| NCT07318922 | Not specified | NOT_YET_RECRUITING | Evaluation of Artificial Intelligence in Diagnosis and Risk Assessment of Oral Potentially Malignant Disorders |
| NCT07331935 | Not specified | RECRUITING | Efficacy of Topical Coenzyme Q10 and Curcumin for Oral Leukoplakia Treatment |
| NCT00341497 | Not specified | COMPLETED | Biomarkers for Oral Cancer |
| NCT00767442 | Not specified | UNKNOWN | Least Invasive Nonlinear Light Microscopy |
| NCT01636544 | Not specified | COMPLETED | Infectious Aetiology of Potentially Malignant Disorders and Squamous Cell Carcinomas of the Oral Cavity |
| NCT03031899 | Not specified | COMPLETED | Comparison or Rose Bengal and Toluidine Blue Staining for Lesion Detection Efficacy |
| NCT03682562 | Not specified | COMPLETED | Diagnostic Accuracy of Salivary DNA Integrity Index in Oral Malignant and Premalignant Lesions |
| NCT04079491 | Not specified | TERMINATED | Intra and Extra Oral Inspection of Oral Mucosa |
| NCT04153266 | Not specified | COMPLETED | Oral Epithelial Dysplasia Informational Needs Questionnaire |
| NCT04251845 | Not specified | UNKNOWN | Evaluation of Effect of Topical Melatonin in Treatment of Oral Leukoplakia |
| NCT04267419 | Not specified | COMPLETED | Malondialdehyde and Nitrous Oxide as Salivary Biomarkers for Different Oral Lesions |
| NCT04487938 | Not specified | UNKNOWN | Oral Cancer Screening and Education in Hong Kong |
| NCT04712929 | Not specified | COMPLETED | Candida Associated Cytokines in Oral Leukoplakia |
| NCT04732741 | Not specified | UNKNOWN | Diagnostic Accuracy of Salivary Gamma-synuclein in Oral Malignant and Premalignant Lesions |
| NCT05942794 | Not specified | UNKNOWN | Identification of Oral Lesions Through an Autofluorescence System |
| NCT06256809 | Not specified | UNKNOWN | Analyzing Handprint Patterns to Predict Oral Cancer Risks: A Comparative Study |
| NCT06469892 | Not specified | COMPLETED | Saliva and Plasma Exosomes for Oral Leukoplakia Malignant Transformation Diagnosis and Oral Cancer Prognosis Monitoring |
| NCT07416318 | Not specified | COMPLETED | Unveiling the Protein Expression Patterns in Oral Lichen Planus and Leukoplakia Through Comparative Salivary Proteomics |
Drugs tested across these trials (top 30)
| Molecule | Max phase | Trials referencing |
|---|---|---|
| PIOGLITAZONE | 4 | 6 |
| METFORMIN | 4 | 2 |
| ROSE BENGAL FREE ACID | 4 | 2 |
| AMINOLEVULINIC ACID HYDROCHLORIDE | 4 | 1 |
| ROSE BENGAL | 0 | 1 |