ORPHA:247378
Autosomal recessive secondary erythrocytosis not associated with VHL gene
Also known as: Autosomal recessive secondary erythrocytosis, non-Chuvash type · Autosomal recessive secondary erythrocytosis not associated with von Hippel-Lindau gene · Autosomal recessive secondary polycythemia, non-Chuvash type · Autosomal recessive secondary polycythemia not associated with von Hippel-Lindau gene · Autosomal recessive secondary polycythemia not associated with VHL gene
Publications
0
Trials
0
Interventional, condition-specific
Researchers
0
Distinct authors in sample
Gene link
VHL
Strong
Readiness
1/6
Stages with a signal
Clinical definition (Orphanet)
A rare, , hematologic disease characterized by an increase in hemoglobin, hematocrit and erythrocyte mass resulting in plethora or ruddy complexion, headache, dizziness, tinnitus and exertional dyspnea. In some cases, thrombophlebitis and arthralgia have also been reported.
How rare: How common this is has not been clearly measured.
Cross-references
Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.
Additional Mondo synonyms (3)
autosomal recessive secondary erythrocytosis not associated with VHL gene · autosomal recessive secondary erythrocytosis, non-Chuvash type · autosomal recessive secondary polycythemia, non-Chuvash type
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.”
1/6 stages with a signal
Search queries returned nothing — this usually means a naming mismatch, not proof that nothing exists.
- Gene identifiedPresent
Strong — VHL
- LiteratureNot checked
Query returned nothing — not evidence of absence Source
- Phenotype characterisedNot found
No HPO disease–phenotype associations via Monarch for these Mondo IDs
- Animal modelNot found
No Alliance genotype “model of” associations via Monarch for these Mondo IDs
- Orphan designationNot found
No FDA or EMA orphan-drug designation matched this disease via UMLS or preferred name Source
- Interventional trialNot checked
Broken query — trial zero not trusted
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)
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?
0
We found no papers under this exact name — work may still exist under another label.
0 in the last 10 years · low confidence
Phrase hits: 0 · MeSH hits: 0
Who's working on it?
0
Distinct author names in 0 sampled papers.
Who's working on it?
No author names could be extracted from the sampled publications. Try the Europe PMC query in “How we counted this,” or contact an umbrella rare-disease organisation for researcher referrals.
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).
Data as of 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
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.
See who's working on it — people publishing on this disease are often the practical next contact when no trial is listed.
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 Autosomal recessive secondary erythrocytosis not associated with VHL gene — check Associations / patient organisations on that page.
India — NPRD
Last verified 2026-07-26This 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.
"Autosomal recessive secondary erythrocytosis not associated with VHL gene" OR "Autosomal recessive secondary erythrocytosis, non-Chuvash type" OR "Autosomal recessive secondary erythrocytosis not associated with von Hippel-Lindau gene" OR "Autosomal recessive secondary polycythemia, non-Chuvash type" OR "Autosomal recessive secondary polycythemia not associated with von Hippel-Lindau gene" OR "Autosomal recessive secondary polycythemia not associated with VHL gene"
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Autosomal recessive secondary erythrocytosis not associated with VHL gene" OR "Autosomal recessive secondary erythrocytosis, non-Chuvash type" OR "Autosomal recessive secondary erythrocytosis not associated with von Hippel-Lindau gene" OR "Autosomal recessive secondary polycythemia, non-Chuvash type" OR "Autosomal recessive secondary polycythemia not associated with von Hippel-Lindau gene" OR "Autosomal recessive secondary polycythemia not associated with VHL gene"
Study-type breakdown: 0 interventional · 0 observational · 0 expanded access. Only interventional studies enter the trial headline.
Query health: broken — strategies attempted: phrase; with hits: none
Parent literature probe: secondary polycythemia (MONDO:0020115) — 1120 hits
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
- Zero publications but GenCC Strong — literature likely indexed under another name; excluded from neglect count
Ingested 2026-07-27T10:31:45.893Z · excluded from neglect metrics