ORPHA:79106
Eiken syndrome
Query health: suspect — Only one of 3 strategies returned hits (phrase).
Publications
53
49.1th percentile
Trials
0
Interventional, condition-specific
Researchers
330
Distinct authors in sample
Gene link
PTH1R
Strong
Readiness
2/6
Stages with a signal
Clinical definition (Orphanet)
A rare, genetic, primary bone syndrome characterized by multiple epiphyseal , severely delayed ossification (mainly of the epiphyses, pubic symphysis, hands and feet), abnormal modeling of the bones in hands and feet, abnormal pelvis cartilage persistence, and mild growth retardation. Calcium, phosphate and vitamin D serum levels are typically within normal range, while parathyroid hormone serum levels are normal to slightly elevated. Oligodontia has been rarely associated.
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:0010803
- MeSH:C564010
- OMIM:600002
- UMLS:C1838779
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 — PTH1R
- LiteraturePresent
53 matched papers (39 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: 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?
53
53 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.
53 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).
39 in the last 10 years · medium confidence · 49.1th percentile (publications denominator)
Phrase hits: 53 · MeSH hits: 0
Who's working on it?
330
Distinct author names in 53 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.
- 01Gardella TJ9 papers · 2026
Endocrine Unit, Massachusetts General Hospital, Boston, Massachusetts (T.J.G.); and Laboratory for GPCR Biology, Department of Pharmacology and Chemical Biology, University of Pittsburgh School of Medicine, Pittsburgh, Pennsylvania (J.-P.V.) Gardella@Helix.MGH.Harvard.edu.
Papers in Europe PMC - 02Jüppner H6 papers · 2026
Endocrine Unit Massachusetts General Hospital, and Harvard Medical School Boston MA USA.
Papers in Europe PMC - 03Chiurazzi P5 papers · 2026
Dipartimento Universitario Scienze della Vita e Sanità Pubblica, Sezione di Medicina Genomica, Università Cattolica del Sacro Cuore, Largo Francesco Vito 1, 00168, Rome, Italy. pietro.chiurazzi@unicatt.it.
Papers in Europe PMC - 04Grippaudo C5 papers · 2026
School of Dentistry, Università Cattolica del Sacro Cuore, L.go Agostino Gemelli 8, 00168, Rome, Italy.
Papers in Europe PMC - 05Vilardaga JP5 papers · 2023
Endocrine Unit, Massachusetts General Hospital, Boston, Massachusetts (T.J.G.); and Laboratory for GPCR Biology, Department of Pharmacology and Chemical Biology, University of Pittsburgh School of Medicine, Pittsburgh, Pennsylvania (J.-P.V.).
Papers in Europe PMC - 06Zhang H5 papers · 2024
The Key Laboratory for Stem Cells and Tissue Engineering, Ministry of Education, Zhongshan School of Medicine, Sun Yat-sen University, Guangzhou, China
Papers in Europe PMC - 07Girisha KM4 papers · 2025
Department of Medical Genetics, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India.
Papers in Europe PMC - 08Höppner J4 papers · 2026
Endocrine Unit, Massachusetts General Hospital and Harvard Medical School, Boston, MA, USA.
Papers in Europe PMC - 09Cafiero C3 papers · 2024
Medical Oncology, S.G. Moscati, 74010, Statte, Taranto, Italy.
Papers in Europe PMC - 10Frazier-Bowers SA3 papers · 2021
Department of Orthodontics, School of Dentistry, University of North Carolina at Chapel Hill.
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.
medium 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.
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.
"Eiken syndrome"
MeSH descriptor terms unioned into the query: Eiken Skeletal Dysplasia
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Eiken syndrome" OR "Eiken Skeletal Dysplasia" 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, mesh, recall-expansion; with hits: phrase
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 2026-07-27T01:57:35.532Z