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ORPHA:251262

Familial osteochondritis dissecans

low confidenceDisorder

Also known as: Osteochondritis dissecans and short stature

Publications

10,207

Trials

0

Interventional, condition-specific

Researchers

620

Distinct authors in sample

Gene link

ACAN

Definitive

Readiness

3/6

Stages with a signal

Clinical definition (Orphanet)

Familial osteochondritis dissecans is a rare genetic skeletal disorder characterized clinically by abnormal chondro-skeletal development, disproportionate short stature and skeletal deformation mainly affecting the knees, hips, ankles and elbows with onset generally in late childhood or adolescence.

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 (4)

OD · SSOAOD · osteochondritis dissecans and short stature · osteochondritis dissecans, short stature, and early-onset osteoarthritis

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

No matched interventional trial; the gene is known and literature exists — preclinical or natural-history work may still be the practical next step.

  1. Gene identifiedPresent

    Definitive — ACAN

  2. LiteraturePresent

    10,207 matched papers (7,818 in last 10 years) Source

  3. Phenotype characterisedPresent

    15 HPO annotations (e.g. Lumbar hyperlordosis; Short thumb; Mandibular prognathia) Source

  4. Animal modelNot found

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

  5. Orphan designationNot found

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

  6. Interventional trialNot found

    No matched interventional trial under our ClinicalTrials.gov rules

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 (ACAN).

GenCC classification: Definitive.

Phenotypes (Monarch / HPO)

15

Associated phenotypes · MONDO:0100462

  • Lumbar hyperlordosis
  • Short thumb
  • Mandibular prognathia
  • Broad hallux
  • Short stature

Showing 5 of 15 — 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)

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?

10,207

10,207 papers — among the better-studied rare conditions, though still a fraction of common-disease literature (breast cancer: over 700,000). Median papers in the last 10 years for a rare disease in this dataset (publications denominator n=3967) is 59.

10,207 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).

7,818 in the last 10 years · low confidence

Phrase hits: 66 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

620

Distinct author names in 66 sampled papers — named people below.

Who's working on it?

No interventional trial matched this name; these authors publish on it in the sampled literature — a practical starting point for contact.

  1. 01
    Aspberg A6 papers · 2022

    Dept. of Clinical Sciences, Lund University

    Papers in Europe PMC
  2. 02
    Stattin EL5 papers · 2022

    Department of Immunology, Genetics and Pathology, Science for Life Laboratory, Uppsala University, Uppsala 75236, Sweden.

    Papers in Europe PMC
  3. 03
    Heinegård D4 papers · 2017

    Dept. of Clinical Sciences, Lund University

    Papers in Europe PMC
  4. 04
    Nilsson O4 papers · 2025

    Division of Pediatric Endocrinology, Department of Women's and Children's Health, Karolinska Institutet and Karolinska University Hospital, Stockholm SE-171 76, Sweden.

    Papers in Europe PMC
  5. 05
    Baron J3 papers · 2017

    Section on Growth and Development, Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, Maryland 20892; and.

    Papers in Europe PMC
  6. 06
    Barry F3 papers · 2023

    Regenerative Medicine Institute (REMEDI), National University of Ireland Galway

    Papers in Europe PMC
  7. 07
    Bjourson T3 papers · 2017

    Northern Ireland Centre for Stratified Medicine, School of Biomedical Sciences, Ulster University, CTRIC building, Altnagelvin Hospital, L’Derry, BT47 6SB

    Papers in Europe PMC
  8. 08
    Cavalleri G3 papers · 2017

    Department of Molecular and Cellular Therapeutics, RCSI, Dublin

    Papers in Europe PMC
  9. 09
    Chen Y3 papers · 2026

    The Second Affiliated Hospital of Guangxi Medical University, Nanning, 530000, Guangxi, China.

    Papers in Europe PMC
  10. 10
    Farrar G3 papers · 2017

    Ocular Genetics Unit, Smurfit Institute of Genetics, Trinity College Dublin, Dublin 2, Ireland

    Papers in Europe PMC

Clinical research

Is a treatment being tested?

0

interventional trials for this specific condition

No interventional trial testing a treatment matched this specific condition name on ClinicalTrials.gov (observational studies and pan-disease registries are listed separately when present).

Data as of 11 September 2026 · last trial check 11 September 2026

No matched interventional trials. This is true for 77.2% of diseases in the trials denominator (5501 of 7126). Here are the researchers publishing on it.

low confidence · 38.6th percentile (trials denominator)

Recruiting interventional trials

From the matched ClinicalTrials.gov set

No interventional trial testing a treatment was found for this specific condition name on ClinicalTrials.gov.

See who's working on it — people publishing on this disease are often the practical next contact when no trial is listed.

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 2026-07-30

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).

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 Familial osteochondritis dissecans — 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.

("Familial osteochondritis dissecans" OR "Osteochondritis dissecans and short stature" OR "SSOAOD" OR "osteochondritis dissecans, short stature, and early-onset osteoarthritis") OR ("ACAN" OR "ACAN syndrome" OR "ACAN-related")

Run this search on Europe PMC

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

"Familial osteochondritis dissecans" OR "Osteochondritis dissecans and short stature" OR "SSOAOD" OR "osteochondritis dissecans, short stature, and early-onset osteoarthritis"

Study-type breakdown: 0 interventional · 0 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

Synonyms dropped by stoplist: OD

Confidence reasoning

  • Preferred label is multi-word and distinctive
  • 1 synonym(s) dropped by stoplist (may under-count)
  • No label/synonym collisions with other diseases in this corpus
  • Publication count (10207) is extremely high with unknown/missing prevalence — treat as possible over-matching, not proven research intensity

Ingested 2026-07-27T10:42:54.006Z