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ORPHA:46486

Mucous membrane pemphigoid

high confidenceDisorder

Also known as: Cicatricial pemphigoid · Mucosal pemphigoid · Mucosynechial pemphigoid

Publications

4,521

90.9th percentile

Trials

12

Interventional, condition-specific

Researchers

1,020

Distinct authors in sample

Gene link

—

Readiness

3/6

Stages with a signal

Clinical definition (Orphanet)

A rare autoimmune bullous skin disease characterized clinically by blistering of the mucous membranes followed by scarring, and immunologically characterized by IgG, IgA and/or C3 deposits on the epidermal basement membrane. The disease principally involves the oral mucosa, but may also affect ocular, pharyngolaryngeal, genital, and esophageal mucous membranes.

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)

benign mucous Membrane pemphigoid · cicatricial pemphigoid · mucosal pemphigoid

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.”

3/6 stages with a signal

An interventional trial matched this condition name on ClinicalTrials.gov — see trials below.

  1. Gene identifiedNot found

    No GenCC disease–gene assertion in this build

  2. LiteraturePresent

    4,521 matched papers (2,283 in last 10 years) Source

  3. Phenotype characterisedPresent

    8 HPO annotations (e.g. Abnormality of the eye; Gingivitis; Blindness) Source

  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 trialPresent

    12 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)

8

Associated phenotypes · MONDO:0018746

  • Abnormality of the eye
  • Gingivitis
  • Blindness
  • Atypical scarring of skin
  • Autoimmunity

Showing 5 of 8 — 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

8

Drugs / clinical candidates · MONDO_0018746

CTD chemicals (MyDisease.info)

3 associated chemicals · 13 pathways. Therapeutic evidence is listed first when present — not a treatment recommendation.

  • Dapsone · therapeutic
  • Minocycline · therapeutic
  • Thalidomide · therapeutic

Pathways: Calcium signaling pathway; cAMP signaling pathway; Neuroactive ligand-receptor interaction; Regulation of lipolysis in adipocytes; Pathways in cancer; Signal Transduction; Signaling by GPCR; Class A/1 (Rhodopsin-like receptors)

MyDisease.info · MONDO:0018746

Literature

Is anyone studying this?

4,521

4,521 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.

4,521 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).

2,283 in the last 10 years · high confidence · 90.9th percentile (publications denominator)

Phrase hits: 4,521 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

1,020

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.

  1. 01
    Basu S10 papers · 2026

    Department of Ophthalmology and Visual Science, Cornea Service, Eye and Ear Infirmary, University of IL, University of Illinois at Chicago, Chicago, IL, USA.

    Papers in Europe PMC
  2. 02
    Schmidt E9 papers · 2026

    Department of Dermatology, University of Lübeck, Lübeck, Germany.

    Papers in Europe PMC
  3. 03
    Li J7 papers · 2026

    Department of Stomatology, The First Affiliated Hospital of Hunan Traditional Chinese Medical College (Hunan Provincial Directly Affiliated Hospital of Traditional Chinese Medicine), Zhuzhou, China.

    Papers in Europe PMC
  4. 04
    Ishii N6 papers · 2026

    Department of Dermatology, Kurume University School of Medicine, Kurume, Japan.

    Papers in Europe PMC
  5. 05
    Kate A6 papers · 2026

    From the UPMC Vision Institute, University of Pittsburgh School of Medicine (A.K., V.J.), Pittsburgh, Pennsylvania, USA.

    Papers in Europe PMC
  6. 06
    Hashimoto T5 papers · 2026

    Osaka Metropolitan University Graduate School of Medicine, Osaka, Japan.

    Papers in Europe PMC
  7. 07
    Joly P5 papers · 2026

    AIBD-ToxiTEN group of the ERN-skin, Univ Paris Est Créteil, EpiDermE, Créteil, France.

    Papers in Europe PMC
  8. 08
    Li X5 papers · 2026

    Department of Laboratory Medicine, Chronic Disease Research Center, Medical College, Dalian University, Dalian 116622, China.

    Papers in Europe PMC
  9. 09
    Shanbhag SS5 papers · 2026

    Shantilal Shanghvi Cornea Institute, L V Prasad Eye Institute, Hyderabad, Telangana, India.

    Papers in Europe PMC
  10. 10
    Wang Y5 papers · 2026

    Department of Ophthalmology, Chinese PLA General Hospital, Beijing, China.

    Papers in Europe PMC

Clinical research

Is a treatment being tested?

12

interventional trials for this specific condition

12 interventional trials matched this specific condition name; 1 currently recruiting in our sample.

Data as of 11 September 2026

12 interventional trials — more than 77.2% of diseases in the trials denominator have none at all (5501 of 7126; this disease is at the 93.2th percentile).

high confidence · 93.2th percentile (trials denominator)

Recruiting interventional trials

From the matched ClinicalTrials.gov set

12 interventional trials matched after quoted-phrase search and title/condition post-filter.

Observational and natural-history studies

4 observational studies match this condition. These do not test a treatment and are not counted in the interventional-trial headline, but they are genuine research: natural-history work often defines the endpoints needed for a future rare-disease trial, and families may be able to enroll.

Recruiting or not-yet-recruiting

Open the complete matched search on ClinicalTrials.gov

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 9 · after dedupe 9 · already on CT.gov 0 · kept 0 · parent 0 · uncertain 9 · dropped 0 · fetched 2026-07-29

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 (9)

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 Mucous membrane pemphigoid — 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.

"Mucous membrane pemphigoid" OR "Cicatricial pemphigoid" OR "Mucosal pemphigoid" OR "Mucosynechial pemphigoid" OR "benign mucous Membrane pemphigoid"

Run this search on Europe PMC

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

"Mucous membrane pemphigoid" OR "Cicatricial pemphigoid" OR "Mucosal pemphigoid" OR "Mucosynechial pemphigoid" OR "benign mucous Membrane pemphigoid"

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: 12 interventional · 4 observational · 1 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 2026-07-27T00:10:10.727Z