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ORPHA:767

Polyarteritis nodosa

medium confidenceDisorder

Also known as: Küssmaul-Maier disease · PAN · Periarteritis nodosa

Publications

18,658

95.4th percentile

Trials

9

Interventional, condition-specific

Researchers

1,078

Distinct authors in sample

Gene link

ADA2

Moderate

Readiness

4/6

Stages with a signal

Clinical definition (Orphanet)

A rare, clinically heterogeneous, systemic disease characterized by necrotizing inflammatory lesions affecting medium-sized blood vessels. It most commonly affects skin, joints, peripheral nerves and the gastrointestinal tract.

How rare: 1-9 / 100 000 — about one to nine people per hundred thousand.

Orphanet entry

Cross-references

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

Additional Mondo synonyms (5)

classic polyarteritis nodosa · classical polyarteritis nodosa · panarteritis nodosa · periarteritis nodosa · polyarteritis nodosa

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.”

4/6 stages with a signal

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

  1. Gene identifiedPresent

    Moderate — ADA2

  2. LiteraturePresent

    18,658 matched papers (6,032 in last 10 years) Source

  3. Phenotype characterisedPresent

    28 HPO annotations (e.g. Abnormal skin morphology; Fever; Hypertension) 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

    9 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?

Probably — there is moderate evidence for ADA2.

GenCC classification: Moderate.

Phenotypes (Monarch / HPO)

28

Associated phenotypes · MONDO:0019170

  • Abnormal skin morphology
  • Fever
  • Hypertension
  • Abnormality of the eye
  • Abnormality of the kidney

Showing 5 of 28 — 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

10

Drugs / clinical candidates · MONDO_0019170

CTD chemicals (MyDisease.info)

24 associated chemicals. Therapeutic evidence is listed first when present — not a treatment recommendation.

  • Adrenal Cortex Hormones · therapeutic
  • Alprostadil · therapeutic
  • Cyclophosphamide · therapeutic
  • Cytostatic Agents · therapeutic
  • Dapsone · therapeutic
  • Diltiazem · therapeutic
  • Enalapril · therapeutic
  • Hydroxychloroquine · therapeutic
  • Ketorolac · therapeutic
  • Methotrexate · therapeutic
  • Methylprednisolone · therapeutic
  • Nifedipine · therapeutic

MyDisease.info · MONDO:0019170

Literature

Is anyone studying this?

18,658

18,658 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.

18,658 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).

6,032 in the last 10 years · medium confidence · 95.4th percentile (publications denominator)

Phrase hits: 15,651 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

1,078

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
    Li C4 papers · 2025

    Department of Dermatology, Massachusetts General Hospital, Boston, Massachusetts.

    Papers in Europe PMC
  2. 02
    Mekinian A4 papers · 2026

    Service de médecine interne, hôpital Saint-Antoine, AP-HP, Sorbonne université, 184, rue du Faubourg-Saint-Antoine, 75012 Paris, France. Electronic address: arsene.mekinian@aphp.fr.

    Papers in Europe PMC
  3. 03
    Fain O3 papers · 2025

    Department of Internal Medicine, Saint-Antoine Hospital, APHP, Sorbonne University, Paris, France.

    Papers in Europe PMC
  4. 04
    Sözeri B3 papers · 2026

    Department of Pediatric Rheumatology, Umraniye Training and Research Hospital, University of Health Sciences, İstanbul, Türkiye.

    Papers in Europe PMC
  5. 05
    Tanaka Y3 papers · 2026

    Department of Gastroenterology, Meitetsu Hospital, Nagoya, Japan.

    Papers in Europe PMC
  6. 06
    Amagai M2 papers · 2024

    Department of Dermatology, Keio University School of Medicine, Tokyo, Japan.

    Papers in Europe PMC
  7. 07
    Audemard-Verger A2 papers · 2026

    Department of Internal Medicine, Tours University Hospital, Tours, France.

    Papers in Europe PMC
  8. 08
    Baillet C2 papers · 2026

    Centre Hospitalier Universitaire de Lille, Nuclear Medicine Department, Lille University Hospital, Lille, France.

    Papers in Europe PMC
  9. 09
    Blanco R2 papers · 2025

    Rheumatology Division, University Hospital Marqués de Valdecilla, IDIVAL, Immunopathology Group, Santander, Spain. rblancovela@gmail.com.

    Papers in Europe PMC
  10. 10
    Castañeda S2 papers · 2025

    Rheumatology Division, University Hospital La Princesa, IIS-Princesa, Madrid, Spain.

    Papers in Europe PMC

Clinical research

Is a treatment being tested?

9

interventional trials for this specific condition

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

Data as of 11 September 2026 · last trial check 28 July 2026

9 interventional trials — more than 77.2% of diseases in the trials denominator have none at all (5501 of 7126; this disease is at the 92th percentile).

medium confidence · 92th percentile (trials denominator)

Recruiting interventional trials

From the matched ClinicalTrials.gov set

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

Observational and natural-history studies

14 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 4 · after dedupe 4 · already on CT.gov 0 · kept 0 · parent 0 · uncertain 4 · 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 (4)

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 Polyarteritis nodosa — 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.

("Polyarteritis nodosa" OR "Küssmaul-Maier disease" OR "Periarteritis nodosa" OR "classic polyarteritis nodosa" OR "classical polyarteritis nodosa" OR "panarteritis nodosa") OR ("ADA2" OR "ADA2 syndrome" OR "ADA2-related")

Run this search on Europe PMC

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

"Polyarteritis nodosa" OR "Küssmaul-Maier disease" OR "Periarteritis nodosa" OR "classic polyarteritis nodosa" OR "classical polyarteritis nodosa" OR "panarteritis nodosa"

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: 9 interventional · 14 observational · 0 expanded access. Only interventional studies enter the trial headline.

Query health: ok — strategies attempted: phrase; with hits: phrase

Run this search on ClinicalTrials.gov

Synonyms dropped by stoplist: PAN

Confidence reasoning

  • Preferred label is multi-word and distinctive
  • 1 synonym(s) dropped by stoplist (may under-count)
  • No label/synonym collisions with other diseases in this corpus

Ingested 2026-07-26T15:17:12.669Z