ORPHA:171866
Spondyloepimetaphyseal dysplasia, aggrecan type
Also known as: SEMD, aggrecan type
Publications
50
46.9th percentile
Trials
1
Interventional, condition-specific
Researchers
329
Distinct authors in sample
Gene link
ACAN
Definitive
Readiness
3/6
Stages with a signal
Clinical definition (Orphanet)
Spondyloepimetaphyseal , aggrecan type is a new form of skeletal characterized by severe short stature, facial dysmorphism and characteristic radiographic findings.
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:0013014
- MeSH:C567558
- OMIM:612813
- UMLS:C2748544
Additional Mondo synonyms (1)
spondyloepimetaphyseal dysplasia, aggrecan type
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.
- Gene identifiedPresent
Definitive — ACAN
- LiteraturePresent
50 matched papers (35 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 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 (ACAN).
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?
50
50 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.
50 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).
35 in the last 10 years · high confidence · 46.9th percentile (publications denominator)
Phrase hits: 50 · MeSH hits: 0
Who's working on it?
329
Distinct author names in 50 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.
- 01Baron J4 papers · 2017
Section on Growth and Development, Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, MD. Electronic address: jeffrey.baron@nih.gov.
Papers in Europe PMC - 02Dauber A3 papers · 2015
Division of Endocrinology, Cincinnati Children's Hospital Medical Center, 3333 Burnet Ave., Cincinnati, OH 45229
Papers in Europe PMC - 03Krakow D3 papers · 2011Papers in Europe PMC
- 04Nilsson O3 papers · 2017
Program in Developmental Endocrinology and Genetics (O.N., J.C.L., J.B.), Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, Maryland 20892; Center for Molecular Medicine and Pediatric Endocrinology Unit, Department of Women's and Children's Health (O.N.), Karolinska Institutet and Karolinska University Hospital, SE-171 76 Stockholm, Sweden; Program in Biological and Biomedical Sciences (M.H.G.), Harvard Medical School, Boston, Massachusetts 02115; Connecticut Children's Medical Center (N.D.), Hartford, Connecticut 06106; Children's Hospital of Pittsburgh (J.P., D.F.), University of Pittsburgh Medical Center, Pittsburgh, Pennsylvania 15224; Division of Endocrinology (M.H.G., C.J., J.N.H., A.D.), Boston Children's Hospital, Boston, Massachusetts 02115; Department of Genetics (M.H.G., J.N.H.), Harvard Medical School, Boston, Massachusetts 02115; and Program in Medical and Population Genetics (J.N.H., A.D.), Broad Institute, Cambridge, Massachusetts 02142.
Papers in Europe PMC - 05Nishimura G3 papers · 2019
Department of Pediatric Imaging, Tokyo Metropolitan Children's Medical Center, Fuchu 183-8561, Japan.
Papers in Europe PMC - 06Rimoin DL3 papers · 2011Papers in Europe PMC
- 07Aspberg A2 papers · 2022
Department of Biology, Copenhagen University, Copenhagen N, Denmark. aaspberg@bio.ku.dk
Papers in Europe PMC - 08Briggs MD2 papers · 2016
Institute of Genetic Medicine, Newcastle University, Newcastle-upon-Tyne, NE1 3BZ, UK. michael.briggs@newcastle.ac.uk.
Papers in Europe PMC - 09
- 10Chiarelli F2 papers · 2022
Department of Pediatrics, University of Chieti, Chieti, Italy.
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).
high 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.
Broader category: spondyloepimetaphyseal 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.
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.
"Spondyloepimetaphyseal dysplasia, aggrecan type" OR "SEMD, aggrecan type"
MeSH descriptor terms unioned into the query: Spondyloepimetaphyseal Dysplasia, Aggrecan Type
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Spondyloepimetaphyseal dysplasia, aggrecan type" OR "SEMD, aggrecan type" OR "ACAN"
Recall-expansion terms: ACAN
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: 1 interventional · 0 observational · 0 expanded access. Only interventional studies enter the trial headline.
Parent-category trials query:
"spondyloepimetaphyseal dysplasia"
Query health: ok — strategies attempted: phrase, mesh, 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 2026-07-27T08:44:24.556Z