ORPHA:617916
Diffuse idiopathic pulmonary neuroendocrine cell hyperplasia
Publications
408
82.9th percentile
Trials
0
Interventional, condition-specific
Researchers
1,228
Distinct authors in sample
Gene link
—
Readiness
1/6
Stages with a signal
Clinical definition (Orphanet)
A rare pulmonary neuroendocrine tumor, most often presenting in women over 50 years and no smokers, characterized by long-lasting cough (>10 years), and less frequently by dispnea or wheezing. A proportion of patients are asymptomatic, the disease being an incidental finding during routine check-ups. Diffuse pulmonary nodules and mosaic attenuation can be detected by CT-scan however only histopathology can confirm the diagnosis detecting a multifocal hyperplasia of pulmonary neuroendocrine cells (carcinoid tumorlets). Ventilatory dysfunction can be obstructive and less often restrictive, mixed or non-specific. Symptoms can progress slowly but sometimes lead to respiratory failure. It is considered as a precursor for pulmonary carcinoid tumor.
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:0022986
- UMLS:C1333291
- NCIT:C7437
Additional Mondo synonyms (3)
DIP-NECH · DIPNECH · diffuse idiopathic pulmonary neuroendocrine cell hyperplasia
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
Research-stage checklist from open sources (GenCC, literature, Monarch when enriched, ClinicalTrials.gov). Not a prognosis or care recommendation.
- Gene identifiedNot found
No GenCC disease–gene assertion in this build
- LiteraturePresent
408 matched papers (266 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?
Not yet — the cause hasn't been pinned down in GenCC.
No strong gene–disease assertion joined for this Orphanet entity.
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?
408
408 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.
408 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).
266 in the last 10 years · medium confidence · 82.9th percentile (publications denominator)
Phrase hits: 408 · MeSH hits: 0
Who's working on it?
1,228
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.
- 01Ryu JH6 papers · 2026
Division of Pulmonary and Critical Care Medicine, Mayo Clinic in Rochester, Rochester, MN, USA.
Papers in Europe PMC - 02McCarthy C5 papers · 2026
UCD School of Medicine, Education and Research Centre, St Vincent's University Hospital, Dublin, Ireland.
Papers in Europe PMC - 03Rossi G5 papers · 2023
Pathology Unit, Azienda USL Valle d'Aosta, Regional Hospital 'Parini', Aosta, Italy.
Papers in Europe PMC - 04Colby TV4 papers · 2023
Department of Laboratory Medicine and Pathology, Mayo Clinic Arizona, Scottsdale, Arizona.
Papers in Europe PMC - 05Fournel L4 papers · 2026
Department of Thoracic Surgery, Cochin Hospital of Paris, Assistance Publique des Hôpitaux de Paris, René Descartes University, Paris.
Papers in Europe PMC - 06Grozinsky-Glasberg S4 papers · 2025
Neuroendocrine Tumor Unit, ENETS Center of Excellence, Endocrinology & Metabolism Department, Hadassah-Hebrew University Medical Center, Jerusalem, Israel.
Papers in Europe PMC - 07Samhouri BF4 papers · 2026
Dept of Pulmonary and Critical Care Medicine, Mayo Clinic, Rochester, MN, USA.
Papers in Europe PMC - 08Spagnolo P4 papers · 2026
Medical University Clinic, Canton Hospital Baselland and University of Basel, Basel, Switzerland Section of Respiratory Diseases, Dept of Cardiac, Thoracic and Vascular Sciences, University of Padova, Padova, Italy paolo.spagnolo@unipd.it.
Papers in Europe PMC - 09Azadeh N3 papers · 2020
Division of Pulmonary and Critical Care Medicine, Mayo Clinic, Scottsdale, AZ, USA.
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. 1 observational study did — shown below because natural-history and cohort work can be an important step toward a trial.
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.
medium 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.
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.
Recruiting or not-yet-recruiting
- NCT01440218·ENROLLING BY INVITATION·Idiopathic Diseases of Man
Conditions: Rare Disease · Idiopathic Disease·Matched via recall expansion
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.
"Diffuse idiopathic pulmonary neuroendocrine cell hyperplasia" OR "DIP-NECH" OR "DIPNECH"
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Diffuse idiopathic pulmonary neuroendocrine cell hyperplasia" OR "DIP-NECH" OR "DIPNECH" OR "idiopathic disease"
Recall-expansion terms: idiopathic disease
Study-type breakdown: 0 interventional · 1 observational · 0 expanded access. Only interventional studies enter the trial headline.
Query health: ok — strategies attempted: phrase, recall-expansion; with hits: phrase, recall-expansion
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
- Publication count (408) is high for prevalence class "<1 / 1 000 000" — confidence capped at medium
Ingested 2026-07-27T19:06:35.684Z