ORPHA:184
Cherubism
Also known as: CRBM
Query health: suspect — Only one of 2 strategies returned hits (phrase).
Publications
1,213
Trials
0
Interventional, condition-specific
Researchers
1,023
Distinct authors in sample
Gene link
SH3BP2
Strong
Readiness
2/6
Stages with a signal
Clinical definition (Orphanet)
Cherubism is a rare, self-limiting, fibro-osseous, genetic disease of childhood and adolescence characterized by varying degrees of bilateral enlargement of the mandible and/or maxilla, with clinical repercussions in severe cases.
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:0007315
- MeSH:D002636
- OMIM:118400
- UMLS:C0008029
- NCIT:C84630
Additional Mondo synonyms (3)
cherubism · familial fibrous dysplasia of the jaws · familial multilocular cystic disease of the jaws
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
Strong — SH3BP2
- LiteraturePresent
1,213 matched papers (495 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 (SH3BP2).
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?
1,213
1,213 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.
1,213 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).
495 in the last 10 years · low confidence
Phrase hits: 1,213 · MeSH hits: 0
Who's working on it?
1,023
Distinct author names in 200 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.
- 01Ueki Y8 papers · 2024
Department of Biomedical Sciences and Comprehensive Care Indiana University School of Dentistry Indianapolis IN USA.
Papers in Europe PMC - 02Coudert AE5 papers · 2026
INSERM, UMRS 1138 Equipe 5, Laboratoire de Physiopathologie Orale Moléculaire, Centre de Recherche de Cordeliers, 75006, Paris, France.
Papers in Europe PMC - 03Kadlub N5 papers · 2026
INSERM, UMRS 1138 Equipe 5, Laboratoire de Physiopathologie Orale Moléculaire, Centre de Recherche de Cordeliers, 75006, Paris, France. natacha.kadlub@gmail.com.
Papers in Europe PMC - 04Gomes CC4 papers · 2026
Department of Pathology, Biological Science Institute, Universidade Federal de Minas Gerais, Belo Horizonte, Minas Gerais, Brazil. Electronic address: gomes.carolinac@gmail.com.
Papers in Europe PMC - 05Guimarães LM4 papers · 2026
Department of Pathology, Biological Science Institute, Universidade Federal de Minas Gerais, Belo Horizonte, Minas Gerais, Brazil.
Papers in Europe PMC - 06Kittaka M4 papers · 2024
Department of Biomedical Sciences and Comprehensive Care, Indiana University, School of Dentistry, Indianapolis, IN 46202, USA.
Papers in Europe PMC - 07Matsumoto Y4 papers · 2025
Department of Nephrology, Rheumatology, Endocrinology and Metabolism, Okayama University Graduate School of Medicine, Dentistry and Pharmaceutical Sciences, Okayama, Japan.
Papers in Europe PMC - 08Reichenberger EJ4 papers · 2024
Center for Regenerative Medicine and Skeletal Development, Department of Reconstructive Sciences University of Connecticut Health Farmington CT USA.
Papers in Europe PMC - 09Rottapel R4 papers · 2024
Princess Margaret Cancer Center, University Health Network, University of Toronto, Toronto, Canada.
Papers in Europe PMC - 10Schreuder WH4 papers · 2023
Department of Oral and Maxillofacial Surgery, Amsterdam UMC and Academic Center for Dentistry Amsterdam, University of Amsterdam, Amsterdam, the Netherlands; Department of Head and Neck Surgery and Oncology, Antoni van Leeuwenhoek/Netherlands Cancer Institute, Amsterdam, the Netherlands.
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. 2 observational studies 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.
low 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
2 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
- NCT01630447·RECRUITING·Genetic and Functional Analysis of Cherubism
Conditions: Cherubism·Matched via name phrase
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.
"Cherubism" OR "familial fibrous dysplasia of the jaws" OR "familial fibrous dysplasia of jaws" OR "familial multilocular cystic disease of the jaws" OR "familial multilocular cystic disease of jaws"
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Cherubism" OR "familial fibrous dysplasia of the jaws" OR "familial fibrous dysplasia of jaws" OR "familial multilocular cystic disease of the jaws" OR "familial multilocular cystic disease of jaws" OR "SH3BP2"
Recall-expansion terms: SH3BP2
Study-type breakdown: 0 interventional · 2 observational · 0 expanded access. Only interventional studies enter the trial headline.
Query health: suspect — strategies attempted: phrase, recall-expansion; with hits: phrase
Run this search on ClinicalTrials.gov
Synonyms dropped by stoplist: CRBM
Confidence reasoning
- Preferred label is short or not clearly distinctive
- 1 synonym(s) dropped by stoplist (may under-count)
- No label/synonym collisions with other diseases in this corpus
- Publication count (1213) is implausibly high for prevalence class "<1 / 1 000 000" — treat as possible over-matching, not a measure of research intensity
Ingested 2026-07-26T12:48:27.227Z