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ORPHA:79473

Variegate porphyria

low confidenceDisorder

Also known as: Porphyria variegata · Protoporphyrinogen oxidase deficiency

Publications

1,215

Trials

3

Interventional, condition-specific

Researchers

882

Distinct authors in sample

Gene link

PPOX

Definitive

Readiness

3/6

Stages with a signal

Clinical definition (Orphanet)

A rare acute hepatic porphyria characterized by neurovisceral attacks and/or skin lesions.

How rare: <1 / 1 000 000 — fewer than one in a million. In a city the size of Kolkata, that might mean on the order of fifteen people.

Orphanet entry

Cross-references

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

Additional Mondo synonyms (3)

Protocoproporphyria · protoporphyrinogen oxidase deficiency · variegate porphyria

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 identifiedPresent

    Definitive — PPOX

  2. LiteraturePresent

    1,215 matched papers (453 in last 10 years) Source

  3. Phenotype characterisedNot checked

    Not yet enriched from Monarch / HPO

  4. Animal modelNot checked

    Not yet enriched from Monarch / Alliance

  5. Orphan designationNot checked

    FDA/EMA orphan-drug designation not enriched yet

  6. Interventional trialPresent

    3 matched on ClinicalTrials.gov

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?

Yes — we know a specific gene responsible (PPOX).

GenCC classification: Definitive.

Phenotypes (Monarch / HPO)

Not enriched in this build — Monarch phenotype joins were not run for this record.

Animal models (Monarch / Alliance)

Not enriched in this build.

Literature

Is anyone studying this?

1,215

1,215 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=5449) is 41.

1,215 papers since the earliest indexed year in this search — median last-10-year count for a rare disease in this dataset is 41 (publications denominator n=5449).

453 in the last 10 years · low confidence

Phrase hits: 1,214 · MeSH hits: 3

Open Europe PMC search

Who's working on it?

882

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
    Bonkovsky HL10 papers · 2026

    Section on Gastroenterology & Hepatology, Department of Medicine, Wake Forest University School of Medicine, Winston-Salem, NC 27157, USA.

    Papers in Europe PMC
  2. 02
    Stölzel U8 papers · 2026

    Porphyrie Zentrum, Klinikum Chemnitz gGmbH, Flemmingstr. 2, 09009, Chemnitz, Deutschland. dr.stoelzel@porphyrie.de.

    Papers in Europe PMC
  3. 03
    Wang B8 papers · 2025

    Department of Medicine and Division of Gastroenterology, University of California San Francisco, San Francisco, California, USA.

    Papers in Europe PMC
  4. 04
    Anderson KE7 papers · 2026

    Department of Preventive Medicine and Population Health, University of Texas Medical Branch, Galveston, TX.

    Papers in Europe PMC
  5. 05
    Ventura P7 papers · 2025

    Regional Reference Centre for Diagnosing and Management of Porphyrias, Internal Medicine Unit, Department of Medical and Surgical Science for Children and Adults, Azienda Ospedaliero-Universitaria Policlinico of Modena, University of Modena and Reggio Emilia, Largo del Pozzo 71, 41124 Modena, Italy.

    Papers in Europe PMC
  6. 06
    Edel Y6 papers · 2023

    Porphyria Center, Rabin Medical Center, Beilinson Hospital, Petach Tikva, Israel.

    Papers in Europe PMC
  7. 07
    Ricci A6 papers · 2025

    Regional Reference Centre for Diagnosing and Management of Porphyrias, Internal Medicine Unit, Department of Medical and Surgical Science for Children and Adults, Azienda Ospedaliero-Universitaria Policlinico of Modena, University of Modena and Reggio Emilia, Largo del Pozzo 71, 41124 Modena, Italy.

    Papers in Europe PMC
  8. 08
    Stauch T6 papers · 2026

    Porphyrie-Speziallabor EPNET, MVZ Labor PD Dr. med. Volkmann und Kollegen GbR, Gerwigstr. 67, 76131, Karlsruhe, Deutschland.

    Papers in Europe PMC
  9. 09
    Balwani M5 papers · 2025

    Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, NY.

    Papers in Europe PMC
  10. 10
    Frank J5 papers · 2024

    Department of Dermatology, Venerology and Allergology, University Medical Center, Göttingen, Germany.

    Papers in Europe PMC

Clinical research

Is a treatment being tested?

3

interventional trials for this specific condition

3 interventional trials matched this specific condition name; none in our sample are currently recruiting.

Data as of 27 July 2026

3 interventional trials — more than 73% of diseases in the trials denominator have none at all (5114 of 7003; this disease is at the 85.1th percentile).

low confidence · 85.1th percentile (trials denominator)

Recruiting interventional trials

From the matched ClinicalTrials.gov set

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

No currently recruiting studies in the matched set. Open the same search on ClinicalTrials.gov.

Observational and natural-history studies

3 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.

None of the matched observational studies is currently listed as recruiting.

Open the complete matched search on ClinicalTrials.gov

Where to find support

We do not yet link condition-specific patient organisations. These umbrella groups support undiagnosed and ultra-rare families:

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.

"Variegate porphyria" OR "Porphyria variegata" OR "Protoporphyrinogen oxidase deficiency" OR "Protocoproporphyria"

Run this search on Europe PMC

MeSH descriptor terms unioned into the query: Porphyria, Variegate

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

"Variegate porphyria" OR "Porphyria variegata" OR "Protoporphyrinogen oxidase deficiency" OR "Protocoproporphyria" OR "Porphyria, Variegate" OR "PPOX"

Recall-expansion terms: PPOX

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: 3 interventional · 3 observational · 0 expanded access. Only interventional studies enter the trial headline.

Query health: ok — strategies attempted: phrase, mesh, recall-expansion; with hits: phrase, mesh

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
  • Publication count (1215) is implausibly high for prevalence class "<1 / 1 000 000" — treat as possible over-matching, not a measure of research intensity

Ingested 2026-07-27T02:27:40.432Z