RARE DISEASERESEARCH ATLAS

ORPHA:217560

Neuroendocrine cell hyperplasia of infancy

medium confidence

Also known as: NCHI · NEHI

Query health: suspect — Only one of 2 strategies returned hits (phrase).

Clinical definition (Orphanet)

Neuroendocrine cell hyperplasia of infancy (NCHI) is a non-lethal pediatric form of interstitial lung disease (ILD) characterized by tachypnea without respiratory failure.

How rare: How common this is has not been clearly measured.

Orphanet entry

Is anyone studying this?

210

210 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=183) is 38.

210 papers since the earliest indexed year in this search — median last-10-year count for a rare disease in this dataset is 38 (publications denominator n=183).

138 in the last 10 years · medium confidence · 73th percentile (publications denominator)

Is a treatment being tested?

1

trials for this specific condition

1 interventional trial matched this specific condition name; 1 currently recruiting in our sample. 781 trials are registered for hyperplasia, the broader category — shown separately because they may or may not enrol this specific subtype.

Data as of 26 July 2026

781

trials for hyperplasia, the broader category this belongs to

Trials registered for a broader category may or may not enrol people with this specific subtype — eligibility criteria vary, and the trial record often doesn't say. Worth raising with a clinician. How we count trials.

1 interventional trial — more than 59.2% of diseases in the trials denominator have none at all (151 of 255; this disease is at the 65.3th percentile).

medium confidence · 65.3th percentile (trials denominator)

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.

Who's working on it?

1,164

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
    Griese M24 papers · 2026

    Hauner Children's Hospital, Ludwig Maximilians University, German Center for Lung Research (DZL), Munich, Germany.

    Papers in Europe PMC
  2. 02
    Deterding RR22 papers · 2020

    Department of Pediatrics, University of Colorado School of Medicine, Aurora, Colorado.

    Papers in Europe PMC
  3. 03
    Young LR22 papers · 2024

    Division of Pulmonary and Sleep Medicine, The Children's Hospital of Philadelphia, Philadelphia, PA, USA.

    Papers in Europe PMC
  4. 04
    Nathan N19 papers · 2026

    AP-HP, Hôpital Trousseau, Pediatric Pulmonary Department, Paris, France. nadia.nathan@trs.aphp.fr

    Papers in Europe PMC
  5. 05
    Krenke K13 papers · 2026

    Department of Pediatric Pneumonology and Allergy, Medical University of Warsaw, Warsaw, Poland.

    Papers in Europe PMC
  6. 06
    Marczak H12 papers · 2026

    Department of Pediatric Pneumonology and Allergy, Medical University of Warsaw, Warsaw, Poland.

    Papers in Europe PMC
  7. 07
    Brody AS10 papers · 2019

    Children's Interstitial Lung Disease Research Network (CHILDRN) .

    Papers in Europe PMC
  8. 08
    Dishop MK10 papers · 2018

    Department of Pathology and Laboratory Medicine, University of Colorado School of Medicine, Aurora, Colorado.

    Papers in Europe PMC
  9. 09
    Epaud R10 papers · 2025

    Centre Hospitalier Intercommunal de Créteil, Service de Pédiatrie Générale, Créteil, France.

    Papers in Europe PMC
  10. 10
    Lange J10 papers · 2026

    5 Department of Pediatric Pneumology and Allergy, Medical University of Warsaw, Poland.

    Papers in Europe PMC

Recruiting interventional trials

Trials testing a treatment from the matched ClinicalTrials.gov set

1 interventional trials matched after quoted-phrase search and title/condition post-filter.

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 2026-07-26

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 below but are not added to the query string.

"Neuroendocrine cell hyperplasia of infancy" OR "chronic tachypnoe of infancy"

Run this search on Europe PMC

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

"Neuroendocrine cell hyperplasia of infancy" OR "Neuroendocrine cell hyperplasia of the infancy" OR "chronic tachypnoe of infancy" OR "chronic tachypnoe of the infancy" OR "interstitial lung disease specific to infancy"

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.

Cross-references (from Mondo): UMLS:C3161105 NCIT:C120169

Query health: suspect — strategies attempted: phrase, recall-expansion; with hits: phrase

Run this search on ClinicalTrials.gov

Synonyms dropped by stoplist: NCHI; NEHI; CTI

Confidence reasoning

  • Preferred label is multi-word and distinctive
  • 3 synonym(s) dropped by stoplist (may under-count)
  • No label/synonym collisions with other diseases in this corpus

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