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ORPHA:324299

EPAS1-related polycythemia-pheochromocytoma/paraganglioma syndrome

high confidenceDisorder

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

Query health: suspect — Only one of 2 strategies returned hits (phrase).

Publications

113

66.4th percentile

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

    113 matched papers (101 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 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)

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?

113

113 papers have ever been published on this condition (under this name). For scale, breast cancer has over 700,000. Median papers in the last 10 years for a rare disease in this dataset (publications denominator n=5449) is 41.

113 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).

101 in the last 10 years · high confidence · 66.4th percentile (publications denominator)

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 27 July 2026

No matched interventional trials. This is true for 73% of diseases in the trials denominator (5114 of 7003). Here are the researchers publishing on it.

high confidence · 36.5th 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

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.

"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"

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" OR "sporadic pheochromocytoma/secreting paraganglioma"

Recall-expansion terms: sporadic pheochromocytoma/secreting paraganglioma

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

Parent-category trials query:

"paraganglioma"

Query health: suspect — strategies attempted: phrase, recall-expansion; 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 2026-07-27T13:34:54.432Z