ORPHA:2499
Metachondromatosis
Publications
217
68.5th percentile
Trials
1
Interventional, condition-specific
Researchers
1,181
Distinct authors in sample
Gene link
PTPN11
Strong
Readiness
3/6
Stages with a signal
Clinical definition (Orphanet)
Metachondromatosis (MC) is a rare disorder characterized by the presence of both multiple enchondromas and osteochondroma-like lesions.
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:0007979
- MeSH:C562938
- OMIM:156250
- UMLS:C0410530
Additional Mondo synonyms (1)
metachondromatosis
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
Strong — PTPN11
- LiteraturePresent
217 matched papers (113 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 (1 recruiting in sample)
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 (PTPN11).
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?
217
217 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.
217 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).
113 in the last 10 years · medium confidence · 68.5th percentile (publications denominator)
Phrase hits: 217 · MeSH hits: 0
Who's working on it?
1,181
Distinct author names in 200 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.
- 01Yang W12 papers · 2025
Department of Orthopaedics, Warren Alpert Medical School, Rhode Island Hospital, Brown University Providence RI 02912 USA.
Papers in Europe PMC - 02Wang L9 papers · 2024
The First Affiliated Hospital, College of Medicine, Zhejiang University, Hangzhou 310003, China, and.
Papers in Europe PMC - 03Huang J8 papers · 2024
Department of Orthopaedics, Brown University Alpert Medical School and Rhode Island Hospital, Providence, RI 02903, United States of America.
Papers in Europe PMC - 04Bovée JV7 papers · 2011
Department of Pathology, Leiden University Medical Center, Leiden, The Netherlands. j.v.m.g.bovee@lumc.nl
Papers in Europe PMC - 05Feng GS6 papers · 2024
Department of Pathology, Division of Biological Sciences, University of California at San Diego, La Jolla, CA 92093, USA.
Papers in Europe PMC - 06Moore DC6 papers · 2024
Department of Orthopaedics, Brown University Alpert Medical School and Rhode Island Hospital, Providence, RI 02903, United States of America.
Papers in Europe PMC - 07Warman ML6 papers · 2023
Department of Orthopedic Surgery, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts, USA.
Papers in Europe PMC - 08Chen D5 papers · 2017
Department of Biochemistry, Rush University Medical Center, Chicago, Illinois, United States of America.
Papers in Europe PMC - 09Yang Y5 papers · 2023
State Key Laboratory of Cell Biology, CAS Center for Excellence in Molecular Cell Sciences, Shanghai Institute of Biochemistry and Cell Biology, Chinese Academy of Sciences; University of Chinese Academy of Sciences, Shanghai, China.
Papers in Europe PMC - 10Bowen ME4 papers · 2018
Orthopaedic Research Laboratories, Boston Children's Hospital, Boston, Massachusetts, United States of America.
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; 1 currently recruiting in our sample.
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).
medium 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.
- NCT05735717·RECRUITING·MT2021-08T Cell Receptor Alpha/Beta Depletion PBSC Transplantation for Heme Malignancies
Conditions: Hematologic Malignancy · Acute Leukemia · Remission · Acute Myeloid Leukemia·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.
"Metachondromatosis"
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Metachondromatosis" OR "PTPN11"
Recall-expansion terms: PTPN11
Interventional trials matched via: phrase (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.
Query health: ok — strategies attempted: phrase, recall-expansion; with hits: phrase, recall-expansion
Run this search on ClinicalTrials.gov
Confidence reasoning
- Preferred label is short or not clearly distinctive
- No synonyms dropped by stoplist
- No label/synonym collisions with other diseases in this corpus
Ingested 2026-07-26T20:22:06.229Z