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ORPHA:93308

Multiple epiphyseal dysplasia type 1

medium confidenceDisorder

Also known as: EDM1 · MED1 · Polyepiphyseal dysplasia type 1

Publications

9

21.7th percentile

Trials

13

Interventional, condition-specific

Researchers

41

Distinct authors in sample

Gene link

COMP

Strong

Readiness

3/6

Stages with a signal

Clinical definition (Orphanet)

Multiple epiphyseal type 1 (MED 1) is a form of multiple epiphyseal that is characterized by normal or mild short stature, pain in the hips and/or knees, deformity of extremities and early-onset osteoarthrosis. Specific features to MED 1 include a more pronounced involvement of hip joints and gait abnormality and a shorter adult height. MED1 is allelic to pseudoachondroplasia with which it shares clinical and radiological features. The disease follows an mode of transmission.

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)

COMP multiple epiphyseal dysplasia (disease) · epiphyseal dysplasia, multiple, type 1 · multiple epiphyseal dysplasia (disease) caused by mutation in COMP

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

    Strong — COMP

  2. LiteraturePresent

    9 matched papers (6 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

    13 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 (COMP).

GenCC classification: Strong.

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?

9

9 papers have ever been indexed 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.

9 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).

6 in the last 10 years · medium confidence · 21.7th percentile (publications denominator)

Phrase hits: 9 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

41

Distinct author names in 9 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
    Abiramalatha T1 paper · 2013
    Papers in Europe PMC
  2. 02
    Balasubramanian K1 paper · 2017

    Department of Molecular, Cell, and Developmental Biology, University of California Los Angeles, CA, Los Angeles, USA.

    Papers in Europe PMC
  3. 03
    Bateman JF1 paper · 2020

    Musculoskeletal Research, Murdoch Children's Research Institute, Royal Children's Hospital, Parkville Victoria, Australia.

    Papers in Europe PMC
  4. 04
    Bijkerk C1 paper · 1997
    Papers in Europe PMC
  5. 05
    Breedveld FC1 paper · 1997
    Papers in Europe PMC
  6. 06
    Centel T1 paper · 2026

    Independent Researcher, 34158 Istanbul, Turkey.

    Papers in Europe PMC
  7. 07
    Chakravarti S1 paper · 2022

    Department of Ophthalmology and Department of Pathology, Grossman School of Medicine, New York University, New York, NY, USA; email: shukti.chakravarti@nyulangone.org, maithe.rochamonteirodebarros@nyulangone.org.

    Papers in Europe PMC
  8. 08
    Cohn DH1 paper · 2017

    Department of Molecular, Cell, and Developmental Biology, University of California Los Angeles, CA, Los Angeles, USA. dcohn@mcdb.ucla.edu.

    Papers in Europe PMC
  9. 09
    Cui J1 paper · 2022

    School of Rehabilitation and Health Preservation, Chengdu University of Traditional Chinese Medicine, Chengdu 610075, China.

    Papers in Europe PMC
  10. 10
    Enzo E1 paper · 2022

    Center for Regenerative Medicine "Stefano Ferrari," University of Modena and Reggio Emilia, Modena, Italy; email: elena.enzo@unimore.it, mbmaffezzoni@gmail.com, graziella.pellegrini@unimore.it.

    Papers in Europe PMC

Clinical research

Is a treatment being tested?

13

interventional trials for this specific condition

13 interventional trials matched this specific condition name; none in our sample are currently recruiting.

Data as of 27 July 2026

13 interventional trials — more than 73% of diseases in the trials denominator have none at all (5114 of 7003; this disease is at the 92.8th percentile).

medium confidence · 92.8th percentile (trials denominator)

Recruiting interventional trials

From the matched ClinicalTrials.gov set

13 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: multiple epiphyseal dysplasia

0

Interventional trials for the parent category, exclusive of NCT IDs already counted above. Eligibility for this subtype is not guaranteed.

Parent-category matching found a broader label but no interventional trials under it. How we count trials.

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.

Recruiting or not-yet-recruiting

Open the complete matched 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.

"Multiple epiphyseal dysplasia type 1" OR "Polyepiphyseal dysplasia type 1" OR "COMP multiple epiphyseal dysplasia (disease)" OR "epiphyseal dysplasia, multiple, type 1" OR "multiple epiphyseal dysplasia (disease) caused by mutation in COMP"

Run this search on Europe PMC

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

"Multiple epiphyseal dysplasia type 1" OR "Polyepiphyseal dysplasia type 1" OR "COMP multiple epiphyseal dysplasia (disease)" OR "epiphyseal dysplasia, multiple, type 1" OR "multiple epiphyseal dysplasia (disease) caused by mutation in COMP" OR "COMP"

Recall-expansion terms: COMP

Interventional trials matched via: recall-expansion (mesh = registered under a MeSH descriptor no name phrase would catch; recall-expansion = gene / selected parent terms used only for trials).

Study-type breakdown: 13 interventional · 4 observational · 0 expanded access. Only interventional studies enter the trial headline.

Parent-category trials query:

"multiple epiphyseal dysplasia"

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

Run this search on ClinicalTrials.gov

Synonyms dropped by stoplist: EDM1; MED1

Confidence reasoning

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

Ingested 2026-07-27T04:14:02.870Z