ORPHA:33067
Metaphyseal chondrodysplasia, Jansen type
Query health: suspect — Only one of 2 strategies returned hits (phrase).
Publications
69
46.2th percentile
Trials
0
Interventional, condition-specific
Researchers
379
Distinct authors in sample
Gene link
PTH1R
Definitive
Readiness
2/6
Stages with a signal
Clinical definition (Orphanet)
A rare skeletal characterized by short-limbed short stature (due to severe metaphyseal changes that are often discovered in childhood by imaging), waddling gait, bowed legs, contracture deformities of the joints, short hands with clubbed fingers, clinodactyly, prominent upper face and small mandible, as well as chronic parathyroid hormone-independent hypercalcemia, hypercalciuria, and mild hypophosphatemia.
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:0007982
- MeSH:C537564
- OMIM:156400
- UMLS:C0265295
- NCIT:C131868
Additional Mondo synonyms (6)
Jansen Type Metaphyseal Chondrodysplasia · Jansen type metaphyseal chondrodysplasia · metaphyseal chondrodysplasia murk Jansen type · metaphyseal chondrodysplasia, Jansen type · metaphyseal chondrodysplasia, murk Jansen type · murk Jansen type metaphyseal chondrodysplasia
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 — PTH1R
- LiteraturePresent
69 matched papers (34 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 (PTH1R).
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?
69
69 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.
69 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).
34 in the last 10 years · high confidence · 46.2th percentile (publications denominator)
Phrase hits: 69 · MeSH hits: 0
Who's working on it?
379
Distinct author names in 69 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.
- 01Jüppner H3 papers · 2018
Endocrine Unit, Massachusetts General Hospital and Harvard Medical School, Boston, Massachusetts.
Papers in Europe PMC - 02Kronenberg HM3 papers · 2019
Endocrine Unit, Massachusetts General Hospital and Harvard Medical School, Boston, Massachusetts, USA.
Papers in Europe PMC - 03Philbrick WM3 papers · 1998
Division of Endocrinology and Metabolism, Department of Internal Medicine, Yale University School of Medicine, New Haven, CT 06520, USA. william.philbrick@yale.edu
Papers in Europe PMC - 04Amling M2 papers · 1997
Department of Cell Biology, Yale University School of Medicine, New Haven, Connecticut 06510, USA.
Papers in Europe PMC - 05Baron R2 papers · 1997Papers in Europe PMC
- 06Bianco P2 papers · 2008Papers in Europe PMC
- 07Broadus AE2 papers · 1997Papers in Europe PMC
- 08Chiurazzi P2 papers · 2025
UOC Genetica Medica, Fondazione Policlinico Universitario "A. Gemelli" IRCCS, Rome, Italy.
Papers in Europe PMC - 09Gardella TJ2 papers · 2019
Endocrine Unit, Massachusetts General Hospital and Harvard Medical School, Boston, Massachusetts.
Papers in Europe PMC - 10Grippaudo C2 papers · 2025
UOC di Clinica Odontoiatrica, Dipartimento di Neuroscienze, Organi di senso e Torace, Fondazione Policlinico Universitario "A. Gemelli" IRCCS, Rome, Italy. cristina.grippaudo@unicatt.it.
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 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.
General rare disease registries you may be eligible for
These studies enroll across many rare conditions. They are not counted as evidence that anyone is studying this specific disease.
- NCT01793168·RECRUITING·Rare Disease Patient Registry & Natural History Study - Coordination of Rare Diseases at Sanford
Conditions: Rare Disorders · Undiagnosed Disorders · Disorders of Unknown Prevalence · Cornelia De Lange Syndrome
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.
"Metaphyseal chondrodysplasia, Jansen type" OR "Jansen Type Metaphyseal Chondrodysplasia" OR "metaphyseal chondrodysplasia murk Jansen type" OR "metaphyseal chondrodysplasia, murk Jansen type" OR "murk Jansen type metaphyseal chondrodysplasia"
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Metaphyseal chondrodysplasia, Jansen type" OR "Jansen Type Metaphyseal Chondrodysplasia" OR "metaphyseal chondrodysplasia murk Jansen type" OR "metaphyseal chondrodysplasia, murk Jansen type" OR "murk Jansen type metaphyseal chondrodysplasia" OR "PTH1R"
Recall-expansion terms: PTH1R
Study-type breakdown: 0 interventional · 0 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
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 2026-07-26T23:31:48.880Z