RARE DISEASERESEARCH ATLAS
Open navigation menu

ORPHA:2686

Cyclic neutropenia

medium confidenceDisorder

Publications

23,595

97.8th percentile

Trials

1

Interventional, condition-specific

Researchers

1,061

Distinct authors in sample

Gene link

ELANE

Strong

Readiness

4/6

Stages with a signal

Clinical definition (Orphanet)

A rare primary immunodeficiency characterized by regular oscillations in blood neutrophil counts from normal or subnormal levels to severe neutropenia, usually with a cycle length of about 21 days. Symptoms during the neutropenic phase include fever, mouth ulcers, but also pneumonia, and peritonitis, among others. Mode of inheritance is .

How rare: 1-9 / 1 000 000 — roughly one to nine people per million. In a city the size of Kolkata, perhaps a few dozen.

Orphanet entry

Cross-references

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

Additional Mondo synonyms (7)

CH · CN · cyclic agranulocytosis · cyclic hematopoiesis · dysplasia, myelocytic periodic · neutropenia, cyclic · periodic neutropenia

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

An interventional trial matched this condition name on ClinicalTrials.gov — see trials below.

  1. Gene identifiedPresent

    Strong — ELANE

  2. LiteraturePresent

    23,595 matched papers (14,050 in last 10 years) Source

  3. Phenotype characterisedPresent

    36 HPO annotations (e.g. Otitis media; Periodontitis; Thrombocytopenia) Source

  4. Animal modelNot found

    No Alliance genotype “model of” associations via Monarch for these Mondo IDs

  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 (1 recruiting in sample)

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 (ELANE).

GenCC classification: Strong.

Phenotypes (Monarch / HPO)

36

Associated phenotypes · MONDO:0008090

  • Otitis media
  • Periodontitis
  • Thrombocytopenia
  • Decreased total lymphocyte count
  • Abdominal pain

Showing 5 of 36 — open Monarch for the full list.

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?

23,595

23,595 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.

23,595 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).

14,050 in the last 10 years · medium confidence · 97.8th percentile (publications denominator)

Phrase hits: 1,582 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

1,061

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
    Welte K9 papers · 2026

    Molecular Hematopoiesis, Hannover Medical School, Germany.

    Papers in Europe PMC
  2. 02
    Skokowa J8 papers · 2026

    Department of Oncology, Hematology, Immunology, and Rheumatology, University Hospital Tübingen, Tuebingen, Germany.

    Papers in Europe PMC
  3. 03
    Zeidler C8 papers · 2026

    Molecular Hematopoiesis, Hannover Medical School, Germany zeidler.cornelia@mh-hannover.de.

    Papers in Europe PMC
  4. 04
    Dale DC7 papers · 2025

    University of Washington, Seattle, WA dcdale@uw.edu.

    Papers in Europe PMC
  5. 05
    Janczar S5 papers · 2026

    Department of Pediatrics, Oncology and Hematology, Medical University of Lodz, Lodz, Poland.

    Papers in Europe PMC
  6. 06
    Klimiankou M5 papers · 2026

    Department of Hematology, Oncology, Clinical Immunology and Rheumatology, University Hospital Tübingen, Tübingen, Germany.

    Papers in Europe PMC
  7. 07
    Liu L5 papers · 2026

    Department of Clinical Immunology, Children's Hospital of Fudan University, National Children's Medical Center, Shanghai, China.

    Papers in Europe PMC
  8. 08
    Corey SJ4 papers · 2024

    Department of Cancer Biology, Cleveland Clinic, Cleveland, Ohio, USA.

    Papers in Europe PMC
  9. 09
    Li Y4 papers · 2025

    Department of Immunology, School of Basic Medical Sciences, Fudan University, Shanghai, China.

    Papers in Europe PMC
  10. 10
    Madzio J4 papers · 2025

    Department of Pediatrics, Oncology and Hematology, Medical University of Lodz, Lodz, Poland.

    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; 1 currently recruiting in our sample. 326 trials are registered for neutropenia, the broader category — shown separately because they may or may not enrol this specific subtype.

Data as of 11 September 2026 · last trial check 28 July 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).

medium 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.

Broader category: neutropenia

326

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

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 2026-07-29

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 Cyclic neutropenia — 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.

("Cyclic neutropenia" OR "cyclic agranulocytosis" OR "cyclic hematopoiesis" OR "dysplasia, myelocytic periodic" OR "neutropenia, cyclic" OR "periodic neutropenia") OR ("ELANE" OR "ELANE syndrome" OR "ELANE-related")

Run this search on Europe PMC

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

"Cyclic neutropenia" OR "cyclic agranulocytosis" OR "cyclic hematopoiesis" OR "dysplasia, myelocytic periodic" OR "neutropenia, cyclic" OR "periodic neutropenia"

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 · 0 observational · 0 expanded access. Only interventional studies enter the trial headline.

Parent-category trials query:

"neutropenia"

Query health: ok — strategies attempted: phrase; with hits: phrase

Run this search on ClinicalTrials.gov

Synonyms dropped by stoplist: CH; CN

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

Ingested 2026-07-26T20:51:09.085Z