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ORPHA:1328

Camurati-Engelmann disease

low confidenceDisorder

Also known as: Progressive diaphyseal dysplasia

Publications

1,070

Trials

1

Interventional, condition-specific

Researchers

959

Distinct authors in sample

Gene link

TGFB1

Definitive

Readiness

3/6

Stages with a signal

Clinical definition (Orphanet)

Camurati-Engelmann disease (CED) is a rare, clinically variable bone syndrome characterized by hyperostosis of the long bones, skull, spine and pelvis, associated with severe pain in the extremities, a wide-based waddling gait, joint contractures, muscle weakness and easy fatigability.

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.

Orphanet entry

Cross-references

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

Additional Mondo synonyms (3)

Camurati-Engelmann syndrome · Camurati-Englemann disease · progressive diaphyseal dysplasia

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.”

3/6 stages with a signal

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

  1. Gene identifiedPresent

    Definitive — TGFB1

  2. LiteraturePresent

    1,070 matched papers (473 in last 10 years) Source

  3. Phenotype characterisedNot checked

    Not yet enriched from Monarch / HPO

  4. Animal modelNot checked

    Not yet enriched from Monarch / Alliance

  5. Orphan designationNot checked

    FDA/EMA orphan-drug designation not enriched yet

  6. Interventional trialPresent

    1 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?

Yes — we know a specific gene responsible (TGFB1).

GenCC classification: Definitive.

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?

1,070

1,070 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=5449) is 41.

1,070 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).

473 in the last 10 years · low confidence

Phrase hits: 1,070 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

959

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
    Ikegawa S5 papers · 2024

    Laboratory for Bone and Joint Diseases, RIKEN Center for Integrative Medical Sciences, 4-6-1 Shirokanedai, Minato-ku, Tokyo 108-8639, Japan.

    Papers in Europe PMC
  2. 02
    Kinoshita A5 papers · 2024

    Department of Human Genetics, Nagasaki University School of Medicine, Nagasaki, Japan. d399006a@stcc.nagasaki-u.ac.jp

    Papers in Europe PMC
  3. 03
    Van Hul W5 papers · 2022

    Department of Medical Genetics, University of Antwerp and Antwerp University Hospital, Antwerp, Belgium.

    Papers in Europe PMC
  4. 04
    Jiang Y4 papers · 2022

    Department of Endocrinology, Key Laboratory of Endocrinology, Ministry of Health, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences, Beijing 100730, P.R. China.

    Papers in Europe PMC
  5. 05
    Mumm S4 papers · 2025

    BARNES JEWISH HOSPITAL , Saint Louis, MO,

    Papers in Europe PMC
  6. 06
    Nishimura G4 papers · 2024

    Department of Radiology, Nasu-Chuou Hospital, Tochigi, Japan. gen-n@pc4.so-net.ne.jp

    Papers in Europe PMC
  7. 07
    Xia W4 papers · 2022

    Department of Endocrinology, Key Laboratory of Endocrinology, Ministry of Health, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences, Beijing 100730, P.R. China.

    Papers in Europe PMC
  8. 08
    Bhadada SK3 papers · 2025

    Department of Endocrinology, Post Graduate Institute of Medical Education and Research (PGIMER), Chandigarh, India, bhadadask@rediffmail.com.

    Papers in Europe PMC
  9. 09
    Chen J3 papers · 2026

    Department of Ophthalmology, Mayo Clinic, Rochester, Minnesota, USA.

    Papers in Europe PMC
  10. 10
    Collet C3 papers · 2021

    UF de Génétique Moléculaire, Service de Biochimie et de Biologie Moléculaire, pôle B2P, GH Saint-Louis Lariboisière Fernand Widal Inserm U606, Paris, France. corinne.collet@lrb.aphp.fr

    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; none in our sample are currently recruiting.

Data as of 27 July 2026

1 interventional trial — more than 73% of diseases in the trials denominator have none at all (5114 of 7003; this disease is at the 76.8th percentile).

low confidence · 76.8th 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.

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

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 on the overview but are not added to the query string.

"Camurati-Engelmann disease" OR "Progressive diaphyseal dysplasia" OR "Camurati-Engelmann syndrome" OR "Camurati-Englemann disease"

Run this search on Europe PMC

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

"Camurati-Engelmann disease" OR "Progressive diaphyseal dysplasia" OR "Camurati-Engelmann syndrome" OR "Camurati-Englemann disease" OR "TGFB1"

Recall-expansion terms: TGFB1

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.

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 (1070) is implausibly high for prevalence class "<1 / 1 000 000" — treat as possible over-matching, not a measure of research intensity

Ingested 2026-07-26T17:03:40.068Z