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ORPHA:133

Chronic beryllium disease

low confidenceDisorder

Also known as: Berylliosis · Chronic berylliosis · Chronic beryllium lung disease

Publications

2,001

Trials

2

Interventional, condition-specific

Researchers

658

Distinct authors in sample

Gene link

—

Readiness

4/6

Stages with a signal

Clinical definition (Orphanet)

A pneumoconiosis, characterized by granulomatous inflammation, that occurs in individuals who develop beryllium sensitization (BeS), a cell-mediated immune response to environmental and occupational beryllium exposure. BeS precedes the lung disease that may present with chronic dry cough, fatigue, weight loss, chest pain, and increasing dyspnea.

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

Orphanet entry

Cross-references

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

Additional Mondo synonyms (3)

berylliosis · chronic berylliosis · chronic beryllium 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

    2,001 matched papers (497 in last 10 years) Source

  3. Phenotype characterisedPresent

    19 HPO annotations (e.g. Pharyngitis; Abnormal respiratory system physiology; Respiratory insufficiency) Source

  4. Animal modelNot found

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

  5. Orphan designationPresent

    1 FDA designation (1 FDA orphan-indication approval) — e.g. alpha melanotropin 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)

19

Associated phenotypes · MONDO:0015274

  • Pharyngitis
  • Abnormal respiratory system physiology
  • Respiratory insufficiency
  • Fatigue
  • Reduced FEV1/FVC ratio

Showing 5 of 19 — 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)

1

Designation · 1 with FDA orphan-indication approval

  • FDA alpha melanotropinChronic beryllium disease · 2010-09-02 · Not FDA Approved for Orphan Indication

Sources: FDA OOPD · EMA orphan designations

Open Targets candidates

3

Drugs / clinical candidates · MONDO_0015274

CTD chemicals (MyDisease.info)

2 associated chemicals · 228 pathways. Therapeutic evidence is listed first when present — not a treatment recommendation.

  • Prednisone · therapeutic
  • Beryllium · marker/mechanism

Pathways: Cysteine and methionine metabolism; Glutathione metabolism; Metabolic pathways; EGFR tyrosine kinase inhibitor resistance; Antifolate resistance; MAPK signaling pathway; Cytokine-cytokine receptor interaction; NF-kappa B signaling pathway

MyDisease.info · MONDO:0015274

Literature

Is anyone studying this?

2,001

2,001 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.

2,001 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).

497 in the last 10 years · low confidence

Phrase hits: 2,001 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

658

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
    Maier LA45 papers · 2026

    Division of Environmental and Occupational Health Sciences, Department of Medicine, National Jewish Medical and Research Center, Denver, Colorado 80206, USA. MaierL@njc.org

    Papers in Europe PMC
  2. 02
    Newman LS30 papers · 2012

    Division of Environmental and Occupational Health Sciences, National Jewish Medical and Research Center, 1400 Jackson Street, Denver, CO 80206, USA. NewmanL@njc.org

    Papers in Europe PMC
  3. 03
    Fontenot AP23 papers · 2026

    Department of Medicine, National Jewish Medical and Research Center Center, Denver, Colorado 80206, USA.

    Papers in Europe PMC
  4. 04
    Mroz MM15 papers · 2026

    Division of Environmental and Occupational Health Sciences, Department of Medicine, National Jewish Health, Denver, Colorado, USA.

    Papers in Europe PMC
  5. 05
    Schuler CR14 papers · 2025

    Division of Respiratory Disease Studies, Field Studies Branch, NIOSH, Centers for Disease Control and Prevention, Morgantown, WV 26505, USA. cschuler@cdc.gov

    Papers in Europe PMC
  6. 06
    Kreiss K13 papers · 2012
    Papers in Europe PMC
  7. 07
    Rossman MD11 papers · 2025

    Cardiovascular-Pulmonary Division, University of Pennsylvania, Philadelphia.

    Papers in Europe PMC
  8. 08
    Mack DG10 papers · 2026

    Department of Medicine, University of Colorado Denver, Denver, CO 80262, USA.

    Papers in Europe PMC
  9. 09
    Sawyer RT10 papers · 2012

    Department of Medicine, National Jewish Medical and Research Center, Denver, CO 80206, USA. sawyerr@njc.org

    Papers in Europe PMC
  10. 10
    Weston A10 papers · 2021

    Health Effects Laboratory Division, National Institute for Occupational Safety and Health, CDC, MS-L3014, 1095 Willowdale Road, Morgantown, WV 26505-2888, USA. AGW8@CDC.GOV

    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.

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.

Observational and natural-history studies

4 observational studies match 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.

None of the matched observational studies is currently listed as recruiting.

Open the complete matched search on ClinicalTrials.gov

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 Chronic beryllium disease — 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.

("Chronic beryllium disease" OR "Berylliosis" OR "Chronic berylliosis" OR "Chronic beryllium lung disease")

Run this search on Europe PMC

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

"Chronic beryllium disease" OR "Berylliosis" OR "Chronic berylliosis" OR "Chronic beryllium lung disease"

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

Query health: ok — strategies attempted: phrase; 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 (2001) is extremely high with unknown/missing prevalence — treat as possible over-matching, not proven research intensity

Ingested 2026-07-26T12:33:59.276Z