ORPHA:90042
Primary familial and congenital erythrocytosis
Also known as: Primary hereditary and congenital polycythemia · Primary familial and congenital erythrocytosis due to erythropoietin receptor mutation · PFCE · PFCP · Primary hereditary and congenital erythrocytosis · Primary familial and congenital polycythemia · Primary hereditary and congenital erythrocytosis due to erythropoietin receptor mutation · Primary familial and congenital polycythemia due to erythropoietin receptor mutation · Primary hereditary and congenital polycythemia due to erythropoietin receptor mutation
Publications
14,287
Trials
0
Interventional, condition-specific
Researchers
1,109
Distinct authors in sample
Gene link
EPOR, SH2B3
Strong
Readiness
4/6
Stages with a signal
Clinical definition (Orphanet)
Primary familial polycythemia is an inherited hematological disorder resulting from mutations in the erythropoietin (EPO) receptor and is characterized by an elevated absolute red blood cell mass caused by uncontrolled red blood cell production in the presence of low EPO levels.
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.
- MONDO:0007572
- OMIM:133100
- UMLS:C4551637
Additional Mondo synonyms (12)
EPOR familial polycythemia · congenital erythrocytosis due to erythropoietin receptor mutation · congenital polycythemia due to erythropoietin receptor mutation · erythrocytosis, familial, 1 · erythrocytosis, familial, type 1 · erythrocytosis, somatic · familial erythrocytosis · familial erythrocytosis type 1 · familial erythrocytosis, 1 · familial polycythemia caused by mutation in EPOR · primary congenital erythrocytosis · primary familial and congenital polycythemia
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
No matched interventional trial, but a gene association and an animal model are on record — often described as translation-ready / stalled at the clinical step.
- Gene identifiedPresent
Strong — EPOR, SH2B3
- LiteraturePresent
14,287 matched papers (7,017 in last 10 years) Source
- Phenotype characterisedPresent
28 HPO annotations (e.g. Epistaxis; Pruritus; Fatigue) Source
- Animal modelPresent
2 genotype models (Mus musculus) Source
- Orphan designationNot found
No FDA or EMA orphan-drug designation matched this disease via UMLS or preferred name Source
- Interventional trialNot found
No matched interventional trial under our ClinicalTrials.gov rules
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 (EPOR, SH2B3).
GenCC classification: Strong.
Phenotypes (Monarch / HPO)
28
Associated phenotypes · MONDO:0007572
- Epistaxis
- Pruritus
- Fatigue
- Abnormal bleeding
- Polycythemia
Showing 5 of 28 — open Monarch for the full list.
Animal models (Monarch / Alliance)
2
Model associations linked to this Mondo ID
- Eportm1.4(EPOR*)Jtp/Epor+ [background:] involves: 129P2/OlaHsd * C57BL/6·MGI:2386211·Mus musculus
- Eportm1.4(EPOR*)Jtp/Eportm1.4(EPOR*)Jtp [background:] involves: 129P2/OlaHsd * C57BL/6·MGI:2386210·Mus musculus
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?
14,287
14,287 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.
14,287 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).
7,017 in the last 10 years · low confidence
Phrase hits: 318 · MeSH hits: 0
Who's working on it?
1,109
Distinct author names in 200 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.
- 01Prchal JT16 papers · 2026
Huntsman Cancer Institute, University of Utah, Salt Lake City, UT, United States.
Papers in Europe PMC - 02Debeljak N9 papers · 2026
Medical Centre for Molecular Biology, Institute of Biochemistry and Molecular Genetics, Faculty of Medicine, University of Ljubljana, Vrazov trg 2, 1000, Ljubljana, Slovenia.
Papers in Europe PMC - 03Kristan A8 papers · 2026
Medical Centre for Molecular Biology, Institute of Biochemistry and Molecular Genetics, Faculty of Medicine, University of Ljubljana, Vrazov trg 2, 1000, Ljubljana, Slovenia.
Papers in Europe PMC - 04McMullin MF8 papers · 2021
Centre for Cancer Research and Cell Biology, Queen's University, Belfast, UK.
Papers in Europe PMC - 05Gardie B7 papers · 2026
Thorax Institute, Nantes Hospital, CNRS, Inserm, Nantes University, 44000 Nantes, France.
Papers in Europe PMC - 06Kunej T7 papers · 2021
Department of Animal Science, Biotechnical Faculty, University of Ljubljana, 1000 Ljubljana, Slovenia.
Papers in Europe PMC - 07Percy MJ7 papers · 2018
Department of Haematology, Belfast City Hospital, Belfast BT9 7AB, Northern Ireland, United Kingdom.
Papers in Europe PMC - 08Cario H6 papers · 2018
Department of Pediatrics and Adolescent Medicine, University Medical Center, Ulm, Germany.
Papers in Europe PMC - 09Girodon F6 papers · 2026
Biology Division, Department of Biological Hematology, Dijon Hospital, 21000 Dijon, France.
Papers in Europe PMC - 10Semenza GL6 papers · 2023
Vascular Program, Institute for Cell Engineering, McKusick-Nathans Institute of Genetic Medicine, The Johns Hopkins University School of Medicine, 733 North Broadway, Baltimore, MD 21205, USA. gsemenza@jhmi.edu
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).
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.
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 Primary familial and congenital erythrocytosis — 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.
("Primary familial and congenital erythrocytosis" OR "Primary hereditary and congenital polycythemia" OR "Primary familial and congenital erythrocytosis due to erythropoietin receptor mutation" OR "Primary hereditary and congenital erythrocytosis" OR "Primary familial and congenital polycythemia" OR "Primary hereditary and congenital erythrocytosis due to erythropoietin receptor mutation" OR "Primary familial and congenital polycythemia due to erythropoietin receptor mutation" OR "Primary hereditary and congenital polycythemia due to erythropoietin receptor mutation" OR "EPOR familial polycythemia" OR "congenital erythrocytosis due to erythropoietin receptor mutation" OR "congenital polycythemia due to erythropoietin receptor mutation" OR "erythrocytosis, familial, 1" OR "erythrocytosis, familial, type 1" OR "erythrocytosis, somatic" OR "familial erythrocytosis" OR "familial erythrocytosis type 1" OR "familial erythrocytosis, 1" OR "familial polycythemia caused by mutation in EPOR" OR "primary congenital erythrocytosis") OR ("EPOR" OR "EPOR syndrome" OR "EPOR-related" OR "SH2B3" OR "SH2B3 syndrome" OR "SH2B3-related")ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Primary familial and congenital erythrocytosis" OR "Primary hereditary and congenital polycythemia" OR "Primary familial and congenital erythrocytosis due to erythropoietin receptor mutation" OR "Primary hereditary and congenital erythrocytosis" OR "Primary familial and congenital polycythemia" OR "Primary hereditary and congenital erythrocytosis due to erythropoietin receptor mutation" OR "Primary familial and congenital polycythemia due to erythropoietin receptor mutation" OR "Primary hereditary and congenital polycythemia due to erythropoietin receptor mutation" OR "EPOR familial polycythemia" OR "congenital erythrocytosis due to erythropoietin receptor mutation" OR "congenital polycythemia due to erythropoietin receptor mutation" OR "erythrocytosis, familial, 1" OR "erythrocytosis, familial, type 1" OR "erythrocytosis, somatic" OR "familial erythrocytosis" OR "familial erythrocytosis type 1" OR "familial erythrocytosis, 1" OR "familial polycythemia caused by mutation in EPOR" OR "primary congenital erythrocytosis"
Study-type breakdown: 0 interventional · 0 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: PFCE; PFCP
Confidence reasoning
- Preferred label is multi-word and distinctive
- 2 synonym(s) dropped by stoplist (may under-count)
- No label/synonym collisions with other diseases in this corpus
- Publication count (14287) is extremely high with unknown/missing prevalence — treat as possible over-matching, not proven research intensity
Ingested 2026-07-27T03:31:17.813Z