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ORPHA:98852

Desquamative interstitial pneumonia

low confidenceDisorder

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

Publications

1,712

Trials

2

Interventional, condition-specific

Researchers

1,410

Distinct authors in sample

Gene link

—

Readiness

4/6

Stages with a signal

Clinical definition (Orphanet)

A rare interstitial pneumonia characterized by extensive, diffuse intra-alveolar accumulation of pigment-laden macrophages, most commonly associated with long-term exposure to tobacco smoke. Patients present with slowly shortness of breath on exertion and chronic cough with bilateral crackles. Digital clubbing is also frequently observed. Pulmonary function test reveals a restrictive pattern. Computed tomography typically shows diffuse ground-glass opacities with subpleural and lower zone predominance.

Orphanet entry

Cross-references

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

Additional Mondo synonyms (3)

RBILD · desquamative interstitial pneumonia · respiratory bronchiolitis interstitial lung disease

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 identifiedNot found

    No GenCC disease–gene assertion in this build

  2. LiteraturePresent

    1,712 matched papers (855 in last 10 years) Source

  3. Phenotype characterisedPresent

    12 HPO annotations (e.g. Type II pneumocyte hypertrophy; Cough; Failure to thrive) Source

  4. Animal modelPresent

    1 genotype model (Mus musculus) Source

  5. Orphan designationNot found

    No FDA or EMA orphan-drug designation matched this disease via UMLS or preferred name Source

  6. Interventional trialPresent

    2 matched on ClinicalTrials.gov

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)

12

Associated phenotypes · MONDO:0009887

  • Type II pneumocyte hypertrophy
  • Cough
  • Failure to thrive
  • Abnormality of metabolism/homeostasis
  • Cyanosis

Showing 5 of 12 — open Monarch for the full list.

Animal models (Monarch / Alliance)

1

Model associations linked to this Mondo ID

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?

1,712

1,712 papers have been published on this condition. That is a real research literature — still far smaller than common diseases (breast cancer: over 700,000 papers). Median papers in the last 10 years for a rare disease in this dataset (publications denominator n=3967) is 59.

1,712 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).

855 in the last 10 years · low confidence

Phrase hits: 1,712 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

1,410

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
    Ogura T6 papers · 2026

    Dept. of Respiratory Medicine, Kanagawa Cardiovascular & Respiratory Center, Yokohama, Japan.

    Papers in Europe PMC
  2. 02
    Ghio AJ5 papers · 2025

    US Environmental Protection Agency, Research Triangle Park, NC, United States.

    Papers in Europe PMC
  3. 03
    Inoue Y5 papers · 2025

    Clinical Research Center, National Hospital Organization Kinki-Chuo Chest Medical Center, Osaka, Japan.

    Papers in Europe PMC
  4. 04
    Wang Y5 papers · 2025

    Department of Respiratory, Hebei Medical University Third Hospital.

    Papers in Europe PMC
  5. 05
    Chen X4 papers · 2026

    State Key Laboratory of Respiratory Disease, National Clinical Research Center for Respiratory Disease, Guangzhou Institute of Respiratory Health, The First Affiliated Hospital of Guangzhou Medical University, Guangzhou, China.

    Papers in Europe PMC
  6. 06
    Fujisawa T4 papers · 2024

    Second Division, Dept of Internal Medicine, Hamamatsu University School of Medicine, Hamamatsu, Japan fujisawa@hama-med.ac.jp.

    Papers in Europe PMC
  7. 07
    Guo B4 papers · 2026

    State Key Laboratory of Respiratory Disease, National Clinical Research Center for Respiratory Disease, Guangzhou Institute of Respiratory Health, The First Affiliated Hospital of Guangzhou Medical University, Guangzhou, China.

    Papers in Europe PMC
  8. 08
    Hozumi H4 papers · 2024

    Second Division, Dept of Internal Medicine, Hamamatsu University School of Medicine, Hamamatsu, Japan.

    Papers in Europe PMC
  9. 09
    Iwasawa T4 papers · 2024

    Dept. of Radiology, Kanagawa Cardiovascular & Respiratory Center, Yokohama, Japan. tae_i_md@wb3.so-net.ne.jp.

    Papers in Europe PMC
  10. 10
    Nakamura Y4 papers · 2024

    Department of Pulmonary Medicine and Clinical Immunology, Dokkyo Medical University School of Medicine, 880 Kitakobayashi, Mibu 321-0293, Tochigi, Japan.

    Papers in Europe PMC

Clinical research

Is a treatment being tested?

2

interventional trials for this specific condition

2 interventional trials matched this specific condition name; none in our sample are currently recruiting. 1,761 trials are registered for pneumonia, the broader category — shown separately because they may or may not enrol this specific subtype.

Data as of 11 September 2026

2 interventional trials — more than 77.2% of diseases in the trials denominator have none at all (5501 of 7126; this disease is at the 84.5th percentile).

low confidence · 84.5th percentile (trials denominator)

Recruiting interventional trials

From the matched ClinicalTrials.gov set

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

No currently recruiting studies in the matched set. Open the same search on ClinicalTrials.gov.

Broader category: pneumonia

1,761

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 3 · after dedupe 3 · already on CT.gov 0 · kept 0 · parent 0 · uncertain 3 · 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).

Uncertain / not reviewed (3)

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 Desquamative interstitial pneumonia — 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.

"Desquamative interstitial pneumonia" OR "RBILD" OR "respiratory bronchiolitis interstitial lung disease"

Run this search on Europe PMC

MeSH descriptor terms unioned into the query: Interstitial Pneumonitis, Desquamative, Familial

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

"Desquamative interstitial pneumonia" OR "RBILD" OR "respiratory bronchiolitis interstitial lung disease" OR "Interstitial Pneumonitis, Desquamative, Familial"

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

Parent-category trials query:

"pneumonia"

Query health: suspect — strategies attempted: phrase, mesh; 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
  • Publication count (1712) is extremely high with unknown/missing prevalence — treat as possible over-matching, not proven research intensity

Ingested 2026-07-27T05:35:48.871Z