Mucous membrane pemphigoid
diseaseOn this page
Also known as benign mucosal pemphigoidbenign mucous Membrane pemphigoidbenign mucous membrane pemphigoid with ocular involvementcicatricial pemphigoidmucosal pemphigoidMucosynechial pemphigoidocular pemphigoid
Summary
Mucous membrane pemphigoid (MONDO:0018746) is a disease and 8 clinical trials. Top therapeutic interventions include azathioprine, collagenase clostridium histolyticum, and infliximab. A subtype of autoimmune bullous skin disease — broader associated-gene and molecular evidence is on the parent page (see Disease family below).
At a glance
- Prevalence: 1-9 / 100 000 (Germany) [Orphanet-validated]
- Phenotypes (HPO): 7
- Clinical trials: 8
Clinical features
Epidemiology
Prevalence records
3 prevalence record(s), Orphanet:
| Type | Class | Value | Geography | Validation |
|---|---|---|---|---|
| Annual incidence | 1-9 / 1 000 000 | 0.13 | France | Validated |
| Annual incidence | 1-9 / 1 000 000 | 0.2 | Germany | Validated |
| Point prevalence | 1-9 / 100 000 | 2.456 | Germany | Validated |
Signs & symptoms
Clinical features (HPO)
7 HPO clinical features (Orphanet curated; top 7 by frequency):
| HPO ID | Term | Frequency |
|---|---|---|
| HP:0002960 | Autoimmunity | Very frequent (80-99%) |
| HP:0200097 | Oral mucosal blisters | Very frequent (80-99%) |
| HP:0000230 | Gingivitis | Frequent (30-79%) |
| HP:0000987 | Atypical scarring of skin | Frequent (30-79%) |
| HP:0000618 | Blindness | Occasional (5-29%) |
| HP:0007957 | Corneal opacity | Occasional (5-29%) |
| HP:0008066 | Abnormal blistering of the skin | Occasional (5-29%) |
Identifiers
Disease identifiers
| Field | Value |
|---|---|
| Canonical name | mucous membrane pemphigoid |
| Mondo ID | MONDO:0018746 |
| EFO | EFO:1000680 |
| Orphanet | 46486 |
| DOID | DOID:11656 |
| ICD-10-CM | L12.1 |
| ICD-11 | 1456138933 |
| NCIT | C34907 |
| SNOMED CT | 34250006, 76092003 |
| UMLS | C0030804 |
| MedGen | 10619 |
| GARD | 0005913 |
| MedDRA | 10057052 |
| Is cancer (heuristic) | no |
Also known as: benign mucosal pemphigoid · benign mucous Membrane pemphigoid · benign mucous membrane pemphigoid · benign mucous membrane pemphigoid with ocular involvement · cicatricial pemphigoid · mucosal pemphigoid · Mucosynechial pemphigoid · ocular pemphigoid
Disease family
An umbrella term covering 1 Mondo subtype.
Classification path: disease › human disease › disease by body system or component › integumentary system disorder › skin disorder › dermatitis › autoimmune bullous skin disease › mucous membrane pemphigoid
Related subtypes (10): pemphigus, subcorneal pustular dermatosis, dermatitis herpetiformis, anti-p200 pemphigoid, acquired epidermolysis bullosa, linear IgA Dermatosis, paraneoplastic pemphigus, bullous pemphigoid, IgA pemphigus, pemphigoid
Subtypes (1): ocular cicatricial pemphigoid
Genetics & variants
GWAS landscape
No GWAS associations recorded — common-variant (GWAS) studies don’t cover this disease (typical for Mendelian / rare diseases). See the curated gene cohort and Mendelian overlap below.
Variant details and genetic-evidence tiers
No tiered GWAS variants or ClinVar records for this disease.
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): Dapsone, Mycophenolate Mofetil, Prednisolone, Triamcinolone Acetonide.
Clinical trials & evidence
Clinical trials
Clinical trials: 8.
Phase distribution (across all retrieved trials)
| Phase | Trials |
|---|---|
| Not specified | 3 |
| PHASE2 | 2 |
| PHASE2/PHASE3 | 1 |
| PHASE1/PHASE2 | 1 |
| PHASE1 | 1 |
Top trials by phase / activity
| NCT | Phase | Status | Title |
|---|---|---|---|
| NCT04744623 | PHASE2/PHASE3 | UNKNOWN | Clinical Evaluation of New Treatment Strategy of Mucous Membrane Pemphigoid Using Large Dose of Prednisolone Plus Intra-lesional of Triamcinolone Acetonide Followed by Combination of Mycophenolate Mofetil, Dapsone and Low Dose Prednisolone |
| NCT02126020 | PHASE1/PHASE2 | WITHDRAWN | Topical Infliximab in Autoimmune Eyes With Keratoprosthesis |
| NCT04540133 | PHASE2 | COMPLETED | Dexamethasone Solution and Dexamethasone in Mucolox™ |
| NCT05263505 | PHASE2 | TERMINATED | Baricitinib for the Treatment of Ocular Mucous Membrane Pemphigoid |
| NCT02202642 | PHASE1 | UNKNOWN | The Improvement of Limbal Epithelial Culture Technique by Using Collagenase to Isolate Limbal Stem Cells |
| NCT04198740 | Not specified | RECRUITING | Proteomic and Metabolomic Lacrimal Fingerprint in Diverse Pathologies of the Ocular Surface |
| NCT05954416 | Not specified | RECRUITING | FARD (RaDiCo Cohort) (RaDiCo-FARD) |
| NCT03839069 | Not specified | UNKNOWN | Minor Salivary Gland Transplantation for Cicatrizing Conjunctivitis |
Drugs tested across these trials (top 30)
| Molecule | Max phase | Trials referencing |
|---|---|---|
| AZATHIOPRINE | 4 | 1 |
| COLLAGENASE CLOSTRIDIUM HISTOLYTICUM | 4 | 1 |
| INFLIXIMAB | 4 | 1 |
| MYCOPHENOLIC ACID | 4 | 1 |