ORPHA:284984
Aneurysm-osteoarthritis syndrome
Publications
115
54.7th percentile
Trials
0
Interventional, condition-specific
Researchers
849
Distinct authors in sample
Gene link
SMAD3
Definitive
Readiness
2/6
Stages with a signal
Clinical definition (Orphanet)
A rare, genetic, systemic disease characterized by the presence of arterial aneurysms, tortuosity and dissection throughout the arterial tree, associated with early-onset osteoarthritis (predominantly affecting the spine, hands and/or wrists, and knees) and mild craniofacial dysmorphism (incl. long face, high forehead, flat supraorbital ridges, hypertelorism, malar hypoplasia and, anomalies of the palate and uvula), as well as mild skeletal and cutaneous anomalies. Joint abnormalities, such as osteochondritis dissecans and intervertebral disc degeneration, are frequently associated. Additional cardiovascular anomalies may include mitral valve defects, heart malformations, ventricular hypertrophy and atrial fibrillation.
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.
Cross-references
Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.
- MONDO:0013426
- OMIM:613795
- UMLS:C3151087
Additional Mondo synonyms (2)
Loeys-Dietz syndrome type 3 · aneurysm-osteoarthritis syndrome
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.”
2/6 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.
- Gene identifiedPresent
Definitive — SMAD3
- LiteraturePresent
115 matched papers (54 in last 10 years) Source
- Phenotype characterisedNot checked
Not yet enriched from Monarch / HPO
- Animal modelNot checked
Not yet enriched from Monarch / Alliance
- Orphan designationNot checked
FDA/EMA orphan-drug designation not enriched yet
- 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 (SMAD3).
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?
115
115 papers have ever been published on this condition (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.
115 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).
54 in the last 10 years · high confidence · 54.7th percentile (publications denominator)
Phrase hits: 115 · MeSH hits: 0
Who's working on it?
849
Distinct author names in 115 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.
- 01De Backer J10 papers · 2021
Center for Medical Genetics, Ghent University Hospital, De Pintelaan 185 - 0 K5, 9000, Ghent, Belgium. julie.debacker@ugent.be.
Papers in Europe PMC - 02Essers J6 papers · 2025
Department of Genetics, Cancer Genomics Centre Netherlands, Erasmus MC, Rotterdam, The Netherlands.
Papers in Europe PMC - 03Kanaar R5 papers · 2025
Department of Genetics, Cancer Genomics Centre Netherlands, Erasmus MC, Rotterdam, The Netherlands.
Papers in Europe PMC - 04Roos-Hesselink JW5 papers · 2024
Cardiology Department, Erasmus Medical Center, Rotterdam, Netherlands j.roos@erasmusmc.nl.
Papers in Europe PMC - 05van der Pluijm I5 papers · 2025
Department of Molecular Genetics, Erasmus University Medical Center, Room Ee702b, Erasmus MC, Wytemaweg 80, 3015 CN, Rotterdam, The Netherlands.
Papers in Europe PMC - 06Boileau C4 papers · 2021
Laboratory for Vascular Translational Science, INSERM U1148, DHU FIRE, Centre Hospitalo-Universitaire Xavier Bichat (APHP), 46 rue Henri Huchard, Paris, 75018, France. catherine.boileau@inserm.fr.
Papers in Europe PMC - 07Campens L4 papers · 2021
Center for Medical Genetics, Ghent University Hospital, De Pintelaan 185 - 0 K5, 9000, Ghent, Belgium. laurence.campens@ugent.be.
Papers in Europe PMC - 08De Paepe A4 papers · 2016
Center for Medical Genetics, Ghent University Hospital, De Pintelaan 185 - 0 K5, 9000, Ghent, Belgium. anne.depaepe@ugent.be.
Papers in Europe PMC - 09Loeys B4 papers · 2022
Center of Medical Genetics, Faculty of Medicine and Health Sciences, University of Antwerp and Antwerp University Hospital, Antwerp, Belgium.
Papers in Europe PMC - 10Milewicz DM4 papers · 2025
Department of Internal Medicine, The University of Texas Health Science Center at Houston McGovern Medical School, Houston, Texas.
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. 1 observational study did — shown below because natural-history and cohort work can be an important step toward a trial.
Data as of 27 July 2026
No matched interventional trials. This is true for 73% of diseases in the trials denominator (5114 of 7003). Here are the researchers publishing on it.
high confidence · 36.5th 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.
Observational and natural-history studies
1 observational study matches 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.
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 2026-07-26This 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.
"Aneurysm-osteoarthritis syndrome" OR "Loeys-Dietz syndrome type 3"
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Aneurysm-osteoarthritis syndrome" OR "Loeys-Dietz syndrome type 3" OR "SMAD3"
Recall-expansion terms: SMAD3
Study-type breakdown: 0 interventional · 1 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
Ingested 2026-07-27T12:09:55.191Z