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ORPHA:324299

EPAS1-related polycythemia-pheochromocytoma/paraganglioma syndrome

low confidenceDisorder

Also known as: EPAS1-related polycythemia-PPGL syndrome · Paraganglioma-somatostatinoma-polycythemia syndrome

Publications

5,543

Trials

0

Interventional, condition-specific

Researchers

626

Distinct authors in sample

Gene link

—

Readiness

2/6

Stages with a signal

Clinical definition (Orphanet)

A rare, endocrine disease characterized by early onset of polycythemia, and later occuring multiple paragangliomas. Clinical presentation includes hypertension, headaches, fatigue, nausea, anxiety, and high concentration of red blood cells, leading to increased risk of stroke and pulmonary thromboembolism.

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 (7)

EPAS1 gain-of-function mutation syndrome · EPAS1-related polycythemia-paraganglioma syndrome · Mosaic HIF2A gain-of-function disorder · Pacak-Zhuang syndrome · multiple paragangliomas associated with erythrocytosis · paraganglioma-somatostatinoma-polycythemia syndrome · polycythemia-paraganglioma-somatostatinoma syndrome

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.”

2/6 stages with a signal

No specific-condition interventional trial, but broader-category trials exist — discuss eligibility with a clinician.

  1. Gene identifiedNot found

    No GenCC disease–gene assertion in this build

  2. LiteraturePresent

    5,543 matched papers (4,232 in last 10 years) Source

  3. Phenotype characterisedNot found

    No HPO disease–phenotype associations via Monarch for these Mondo IDs

  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 trialPartial

    None under the specific name; 70 for broader category paraganglioma

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)

None returned for this Mondo ID. That often means “not linked under this ID,” not “no clinical features.”

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

No drugs or clinical candidates returned for this Mondo ID on Open Targets.

CTD chemicals (MyDisease.info)

No CTD chemical associations returned for this Mondo ID.

Literature

Is anyone studying this?

5,543

5,543 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.

5,543 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).

4,232 in the last 10 years · low confidence

Phrase hits: 113 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

626

Distinct author names in 113 sampled papers — named people below.

Who's working on it?

No interventional trial matched this name; these authors publish on it in the sampled literature — a practical starting point for contact.

  1. 01
    Pacak K37 papers · 2026

    Eunice Kennedy Shriver National Institutes of Child Health and Human Development, National Institutes of Health, Bethesda, MD, USA.

    Papers in Europe PMC
  2. 02
    Zhuang Z19 papers · 2026

    Neuro-Oncology Branch, Center for Cancer Research, National Cancer Institute, Bethesda, MD, 20892, USA.

    Papers in Europe PMC
  3. 03
    Rosenblum JS11 papers · 2025

    Neuro-Oncology Branch, National Cancer Institute, NIH, Bethesda, Maryland, USA.

    Papers in Europe PMC
  4. 04
    Wang H8 papers · 2025

    Neuro-Oncology Branch, Center for Cancer Research, National Cancer Institute, Bethesda, MD, 20892, USA.

    Papers in Europe PMC
  5. 05
    Jha A7 papers · 2025

    Section on Medical Neuroendocrinology, Eunice Kennedy Shriver, National Institute of Child Health and Human Development, NIH, Bethesda, Maryland, USA.

    Papers in Europe PMC
  6. 06
    Ohh M7 papers · 2026

    Department of Laboratory Medicine & Pathobiology, University of Toronto, 1 King's College Circle, Toronto, ON, M5S 1A8, Canada. michael.ohh@utoronto.ca.

    Papers in Europe PMC
  7. 07
    Taïeb D7 papers · 2024

    Department of Nuclear Medicine, La Timone University Hospital, CERIMED, Aix-Marseille University, 264 rue Saint-Pierre, 13005, Marseille Cedex 05, France. david.taieb@ap-hm.fr.

    Papers in Europe PMC
  8. 08
    Alkaissi H6 papers · 2026

    National Institute of Diabetes and Digestive and Kidney Diseases, National Institutes of Health, Bethesda, MD 20892, USA.

    Papers in Europe PMC
  9. 09
    Yang C6 papers · 2019

    Neuro-Oncology Branch, Center for Cancer Research, National Cancer Institute, Bethesda, MD, 20892, USA.

    Papers in Europe PMC
  10. 10
    Heiss JD5 papers · 2025

    Surgical Neurology Branch, National Institute of Neurological Disorders and Stroke, NIH, Bethesda, Maryland, USA.

    Papers in Europe PMC

Clinical research

Is a treatment being tested?

0

interventional trials for this specific condition

No interventional trial testing a treatment matched this specific condition name on ClinicalTrials.gov (observational studies and pan-disease registries are listed separately when present). 70 trials are registered for paraganglioma, the broader category — shown separately because they may or may not enrol this specific subtype.

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

No matched interventional trials. This is true for 77.2% of diseases in the trials denominator (5501 of 7126). Here are the researchers publishing on it.

low confidence · 38.6th percentile (trials denominator)

Recruiting interventional trials

From the matched ClinicalTrials.gov set

No interventional trial testing a treatment was found for this specific condition name on ClinicalTrials.gov.

70 interventional trials matched paraganglioma, the broader category — listed below. Those studies are not counted in the condition-specific total.

Broader category: paraganglioma

70

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

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 0 · after dedupe 0 · already on CT.gov 0 · kept 0 · parent 0 · uncertain 0 · dropped 0 · fetched 2026-07-30

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).

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 EPAS1-related polycythemia-pheochromocytoma/paraganglioma syndrome — 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.

("EPAS1-related polycythemia-pheochromocytoma/paraganglioma syndrome" OR "EPAS1-related polycythemia-PPGL syndrome" OR "Paraganglioma-somatostatinoma-polycythemia syndrome" OR "EPAS1 gain-of-function mutation syndrome" OR "EPAS1-related polycythemia-paraganglioma syndrome" OR "Mosaic HIF2A gain-of-function disorder" OR "Pacak-Zhuang syndrome" OR "multiple paragangliomas associated with erythrocytosis" OR "polycythemia-paraganglioma-somatostatinoma syndrome") OR ("EPAS1" OR "EPAS1 syndrome" OR "EPAS1-related")

Run this search on Europe PMC

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

"EPAS1-related polycythemia-pheochromocytoma/paraganglioma syndrome" OR "EPAS1-related polycythemia-PPGL syndrome" OR "Paraganglioma-somatostatinoma-polycythemia syndrome" OR "EPAS1 gain-of-function mutation syndrome" OR "EPAS1-related polycythemia-paraganglioma syndrome" OR "Mosaic HIF2A gain-of-function disorder" OR "Pacak-Zhuang syndrome" OR "multiple paragangliomas associated with erythrocytosis" OR "polycythemia-paraganglioma-somatostatinoma syndrome"

Study-type breakdown: 0 interventional · 0 observational · 0 expanded access. Only interventional studies enter the trial headline.

Parent-category trials query:

"paraganglioma"

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
  • Publication count (5543) is implausibly high for prevalence class "<1 / 1 000 000" — treat as possible over-matching, not a measure of research intensity

Ingested 2026-07-27T13:34:54.432Z