ORPHA:279943
Hereditary neutrophilia
Query health: suspect — Only one of 3 strategies returned hits (phrase).
Publications
25
30.9th percentile
Trials
0
Interventional, condition-specific
Researchers
118
Distinct authors in sample
Gene link
CSF3R
Strong
Readiness
2/6
Stages with a signal
Clinical definition (Orphanet)
A rare, genetic, immune disease characterized by chronic neutrophilia, increase in the percentage of circulating CD34+ cells in peripheral blood, increase in granulocyte precursors in bone marrow and . Patients are predominantly asymptomatic, but may present with systemic inflammatory response syndrome with fever, dyspnea, tachycardia, pleural and pericardial effusion, or myelodysplastic syndrome.
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.
Cross-references
Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.
- MONDO:0008092
- MeSH:C563010
- OMIM:162830
- UMLS:C0543669
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 matched interventional trial; the gene is known and literature exists — preclinical or natural-history work may still be the practical next step.
- Gene identifiedPresent
Strong — CSF3R
- LiteraturePresent
25 matched papers (13 in last 10 years) Source
- Phenotype characterisedNot checked
Not yet enriched from Monarch / HPO
- Animal modelNot checked
Not yet enriched from Monarch / Alliance
- Orphan designationNot checked
FDA/EMA orphan-drug designation not enriched yet
- 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 (CSF3R).
GenCC classification: Strong.
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?
25
25 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.
25 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).
13 in the last 10 years · high confidence · 30.9th percentile (publications denominator)
Phrase hits: 25 · MeSH hits: 0
Who's working on it?
118
Distinct author names in 25 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.
- 01Tyner JW4 papers · 2021
Knight Cancer Institute, Oregon Health & Science University, Portland, Oregon. Department of Cell, Developmental & Cancer Biology, Oregon Health & Science University, Portland, Oregon. tynerj@ohsu.edu.
Papers in Europe PMC - 02Gotlib J3 papers · 2021
Division of Hematology, Department of Medicine, Stanford University School of Medicine/Stanford Cancer Institute, Stanford, California.
Papers in Europe PMC - 03Liongue C3 papers · 2025
School of Medicine, Deakin University , Geelong, VIC , Australia ; Strategic Research Centre in Molecular and Medical Research, Deakin University , Geelong, VIC , Australia.
Papers in Europe PMC - 04Ward AC3 papers · 2025
School of Medicine, Deakin University , Geelong, VIC , Australia ; Strategic Research Centre in Molecular and Medical Research, Deakin University , Geelong, VIC , Australia.
Papers in Europe PMC - 05Constantinescu SN2 papers · 2018
Signal Transduction & Molecular Hematology Unit, Ludwig Institute for Cancer Research, Brussels, Belgium.
Papers in Europe PMC - 06Maxson JE2 papers · 2016
Clinical Research Division, Fred Hutchinson Cancer Research Center, Seattle, Washington. Knight Cancer Institute, Oregon Health & Science University, Portland, Oregon. Division of Hematology and Medical Oncology, Oregon Health & Science University, Portland, Oregon.
Papers in Europe PMC - 07Plo I2 papers · 2018
Research Laboratory on Hematopoiesis and Normal and Leukemic Stem Cells, U790, Institut National de la Santé et de la Recherche Médicale, 94805 Villejuif, France.
Papers in Europe PMC - 08Press R2 papers · 2021
Department of Pathology and Knight Cancer Institute, Oregon Health & Science University, Portland, OR.
Papers in Europe PMC - 09Tefferi A2 papers · 2018
Department of Internal Medicine, Division of Hematology, Mayo Clinic, Rochester, Minnesota, USA. tefferi.ayalew@mayo.edu.
Papers in Europe PMC - 10
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 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.
See who's working on it — people publishing on this disease are often the practical next contact when no trial is listed.
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 2026-07-26This 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.
"Hereditary neutrophilia"
MeSH descriptor terms unioned into the query: Neutrophilia, Hereditary
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Hereditary neutrophilia" OR "Neutrophilia, Hereditary" OR "CSF3R"
Recall-expansion terms: CSF3R
Study-type breakdown: 0 interventional · 0 observational · 0 expanded access. Only interventional studies enter the trial headline.
Query health: suspect — strategies attempted: phrase, mesh, 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 2026-07-27T11:48:43.794Z