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ORPHA:704

Pemphigus vulgaris

high confidenceDisorder

Publications

9,778

94.5th percentile

Trials

34

Interventional, condition-specific

Researchers

999

Distinct authors in sample

Gene link

—

Readiness

5/6

Stages with a signal

Clinical definition (Orphanet)

A rare autoimmune bullous skin diseases characterized by painful, flaccid blisters and erosions of the oral mucosa, predominantly involving the buccal area, and with or without extension to the epidermis. Mucosa of the larynx, oesophagus, conjunctiva, nose, genitalia and anus, are less frequently affected.

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.

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.”

5/6 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

    9,778 matched papers (4,958 in last 10 years) Source

  3. Phenotype characterisedPresent

    24 HPO annotations (e.g. Atypical scarring of skin; Urticaria; Weight loss) Source

  4. Animal modelPresent

    3 genotype models (Mus musculus) Source

  5. Orphan designationPresent

    4 FDA designations (3 FDA orphan-indication approvals) — e.g. (S)-2-(1-((6-amino-5-cyanopyrimidin-4-yl)amino)ethyl)-4-oxo-3-phenyl-3,4-dihydropyrrolo[2,1-f][1,2,4]triazine-5-carbonitrile Source

  6. Interventional trialPresent

    34 matched on ClinicalTrials.gov (6 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)

24

Associated phenotypes · MONDO:0008219

  • Atypical scarring of skin
  • Urticaria
  • Weight loss
  • Acantholysis
  • Anxiety

Showing 5 of 24 — open Monarch for the full list.

Animal models (Monarch / Alliance)

3

Model associations linked to this Mondo ID

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)

4

Designations · 3 with FDA orphan-indication approval

  • FDA (S)-2-(1-((6-amino-5-cyanopyrimidin-4-yl)amino)ethyl)-4-oxo-3-phenyl-3,4-dihydropyrrolo[2,1-f][1,2,4]triazine-5-carbonitrilePemphigus Vulgaris · 2015-01-26 · Not FDA Approved for Orphan Indication
  • FDA Mycophenolate mofetilPemphigus Vulgaris · 2006-05-26 · Not FDA Approved for Orphan Indication
  • FDA Desmoglein 3 synthetic peptide (PI-0824)Pemphigus Vulgaris · 2004-10-26 · Not FDA Approved for Orphan Indication
  • FDA rituximab (Rituxan(r); MabThera(r))Pemphigus Vulgaris · 2015-02-23

Sources: FDA OOPD · EMA orphan designations

Open Targets candidates

24

Drugs / clinical candidates · MONDO_0008219

CTD chemicals (MyDisease.info)

No CTD chemical associations returned for this Mondo ID.

Literature

Is anyone studying this?

9,778

9,778 papers — among the better-studied rare conditions, though still a fraction of common-disease literature (breast cancer: over 700,000). Median papers in the last 10 years for a rare disease in this dataset (publications denominator n=3967) is 59.

9,778 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).

4,958 in the last 10 years · high confidence · 94.5th percentile (publications denominator)

Phrase hits: 9,778 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

999

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
    Gupta S5 papers · 2026

    Department of Dermatology, Civil Hospital, Nabha, Punjab, India.

    Papers in Europe PMC
  2. 02
    Balighi K4 papers · 2026

    Autoimmune Bullous Diseases Research Center, Tehran University of Medical Sciences, Tehran, Iran. kamran.balighi@yahoo.com.

    Papers in Europe PMC
  3. 03
    Daneshpazhooh M4 papers · 2026

    Autoimmune Bullous Diseases Research Center, Tehran University of Medical Sciences, Tehran, Iran.

    Papers in Europe PMC
  4. 04
    Li X4 papers · 2026

    Nursing Department, The First Affiliated Hospital of China Medical University, Shenyang 110001, China; (X.Z.);

    Papers in Europe PMC
  5. 05
    Schmidt E4 papers · 2026

    Department of Dermatology, University of Lübeck, Lübeck, Germany. enno.schmidt@uksh.de.

    Papers in Europe PMC
  6. 06
    Sharma A4 papers · 2026

    Department of Biochemistry, AIIMS, New Delhi, India.

    Papers in Europe PMC
  7. 07
    Arava S3 papers · 2026

    Department of Pathology, AIIMS, New Delhi, India.

    Papers in Europe PMC
  8. 08
    Ebrahimpour-Koujan S3 papers · 2026

    Department of Clinical Nutrition, School of Nutritional Sciences and Dietetics, Tehran University of Medical Sciences, No: 44, Hojjat-dost Alley, Naderi St., Keshavarz Blvd, PO Box: 14155-6117, Tehran, Iran. nutri.seam1@gmail.com.

    Papers in Europe PMC
  9. 09
    Hashimoto T3 papers · 2026

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

    Papers in Europe PMC
  10. 10
    Hertl M3 papers · 2026

    Department of Dermatology and Allergology, Philipps University, Marburg, Germany.

    Papers in Europe PMC

Clinical research

Is a treatment being tested?

34

interventional trials for this specific condition

34 interventional trials matched this specific condition name; 6 currently recruiting in our sample. 21 trials are registered for pemphigus, the broader category — shown separately because they may or may not enrol this specific subtype.

Data as of 11 September 2026

34 interventional trials — more than 77.2% of diseases in the trials denominator have none at all (5501 of 7126; this disease is at the 96.3th percentile).

high confidence · 96.3th percentile (trials denominator)

Recruiting interventional trials

From the matched ClinicalTrials.gov set

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

Broader category: pemphigus

21

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

Observational and natural-history studies

11 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 2 · after dedupe 2 · already on CT.gov 0 · kept 0 · parent 0 · uncertain 2 · 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 (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 Pemphigus vulgaris — 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.

"Pemphigus vulgaris"

Run this search on Europe PMC

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

"Pemphigus vulgaris"

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: 34 interventional · 11 observational · 0 expanded access. Only interventional studies enter the trial headline.

Parent-category trials query:

"pemphigus"

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 2026-07-26T14:58:03.294Z