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ORPHA:238557

Chuvash erythrocytosis

high confidenceDisorder

Also known as: VHL-related polycythemia · Von Hippel-Lindau-related erythrocytosis · VHL-related erythrocytosis · Chuvash polycythemia · Von Hippel-Lindau-related polycythemia

Publications

329

63.5th percentile

Trials

1

Interventional, condition-specific

Researchers

1,071

Distinct authors in sample

Gene link

VHL

Strong

Readiness

5/6

Stages with a signal

Clinical definition (Orphanet)

Chuvash erythrocytosis is a rare, genetic, secondary polycythemia disorder characterized by increased hemoglobin, hematocrit and erythropoietin serum levels and normal oxygen affinity, which usually manifests with headache, dizziness, dyspnea and/or plethora. Patients present an increased risk of hemorrhage, thrombosis and early death.

How rare: How common this is has not been clearly measured.

Orphanet entry

Cross-references

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

Additional Mondo synonyms (4)

VHL familial polycythemia · Von Hippel-Lindau-dependent polycythemia · erythrocytosis, familial, type 2 · familial polycythemia caused by mutation in VHL

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 identifiedPresent

    Strong — VHL

  2. LiteraturePresent

    329 matched papers (149 in last 10 years) Source

  3. Phenotype characterisedPresent

    15 HPO annotations (e.g. Cerebral hemorrhage; Peripheral thrombosis; Stroke) Source

  4. Animal modelPresent

    4 genotype models (Danio rerio, Mus musculus) Source

  5. Orphan designationNot found

    No FDA or EMA orphan-drug designation matched this disease via UMLS or preferred name Source

  6. Interventional trialPresent

    1 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 (VHL).

GenCC classification: Strong.

Phenotypes (Monarch / HPO)

15

Associated phenotypes · MONDO:0009892

  • Cerebral hemorrhage
  • Peripheral thrombosis
  • Stroke
  • Plethora
  • Fatigue

Showing 5 of 15 — open Monarch for the full list.

Animal models (Monarch / Alliance)

4

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)

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?

329

329 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=3967) is 59.

329 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).

149 in the last 10 years · high confidence · 63.5th percentile (publications denominator)

Phrase hits: 328 · MeSH hits: 1

Open Europe PMC search

Who's working on it?

1,071

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
    Prchal JT33 papers · 2026

    Baylor College of Medicine and Michael DeBakey VAH, Houston, TX 77030, USA. jprchal@bcm.tmc.edu

    Papers in Europe PMC
  2. 02
    Gordeuk VR28 papers · 2025

    Comprehensive Sickle Cell Center, Section of Hematology/Oncology, Department of Medicine, University of Illinois at Chicago, Chicago, IL, USA.

    Papers in Europe PMC
  3. 03
    Miasnikova GY13 papers · 2023

    Chuvash Republic Clinical Hospital No. 1, Cheboksary, Russia.

    Papers in Europe PMC
  4. 04
    Nekhai S13 papers · 2023

    Center for Sickle Cell Disease, Howard University, Washington, DC.

    Papers in Europe PMC
  5. 05
    Sergueeva AI13 papers · 2023

    Cheboksary Children's Hospital, Cheboksary, Russia.

    Papers in Europe PMC
  6. 06
    Zhang X12 papers · 2025

    Comprehensive Sickle Cell Center, Section of Hematology/Oncology, Department of Medicine, University of Illinois at Chicago, Chicago, IL, USA.

    Papers in Europe PMC
  7. 07
    Robbins PA11 papers · 2020

    Department of Physiology, Anatomy & Genetics, University of Oxford, Oxford, United Kingdom.

    Papers in Europe PMC
  8. 08
    Polyakova LA10 papers · 2015

    Chuvash Republic Clinical Hospital, No. 1, Cheboksary, Russia.

    Papers in Europe PMC
  9. 09
    Sergueeva A10 papers · 2025

    Cheboksary Children's Hospital, Cheboksary, Russian Federation, Howard University, Washington, DC.

    Papers in Europe PMC
  10. 10
    Song J10 papers · 2026

    University of Utah , Salt Lake City, Utah.

    Papers in Europe PMC

Clinical research

Is a treatment being tested?

1

interventional trials for this specific condition

1 interventional trial matched this specific condition name; none in our sample are currently recruiting.

Data as of 11 September 2026

1 interventional trial — more than 77.2% of diseases in the trials denominator have none at all (5501 of 7126; this disease is at the 80.1th percentile).

high confidence · 80.1th percentile (trials denominator)

Recruiting interventional trials

From the matched ClinicalTrials.gov set

1 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

1 observational study matches 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

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 Chuvash erythrocytosis — 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.

"Chuvash erythrocytosis" OR "VHL-related polycythemia" OR "Von Hippel-Lindau-related erythrocytosis" OR "VHL-related erythrocytosis" OR "Chuvash polycythemia" OR "Von Hippel-Lindau-related polycythemia" OR "VHL familial polycythemia" OR "Von Hippel-Lindau-dependent polycythemia" OR "erythrocytosis, familial, type 2" OR "familial polycythemia caused by mutation in VHL"

Run this search on Europe PMC

MeSH descriptor terms unioned into the query: Erythrocytosis, Familial, 2

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

"Chuvash erythrocytosis" OR "VHL-related polycythemia" OR "Von Hippel-Lindau-related erythrocytosis" OR "VHL-related erythrocytosis" OR "Chuvash polycythemia" OR "Von Hippel-Lindau-related polycythemia" OR "VHL familial polycythemia" OR "Von Hippel-Lindau-dependent polycythemia" OR "erythrocytosis, familial, type 2" OR "familial polycythemia caused by mutation in VHL" OR "Erythrocytosis, Familial, 2"

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: 1 interventional · 1 observational · 1 expanded access. Only interventional studies enter the trial headline.

Query health: ok — strategies attempted: phrase, mesh; 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

Ingested 2026-07-27T10:23:36.429Z