ORPHA:647676
Multiple epiphyseal dysplasia type 7
Also known as: CANT1-related multiple epiphyseal dysplasia · EDM7 · MED7
Publications
3
16.4th percentile
Trials
0
Interventional, condition-specific
Researchers
2
Distinct authors in sample
Gene link
—
Readiness
2/6
Stages with a signal
Clinical definition (Orphanet)
A rare multiple epiphyseal characterized by mild short stature, joint pain and early-onset osteoarthropathy, frequently requiring joint replacement. Radiographs from affected individuals may manifest features typical of Desbuquois , including irregularly shaped capital femoral epiphyses, a short femoral neck (resembles the ''Swedish key'' appearance of the proximal femur) and advanced carpal ossification in the hands. However, some other features typical of Desbuquois like joint dislocations, scoliosis, coronal clefts, or other hand anomalies including accessory ossification centers and/or delta phalanx are not observed. Anterior wedging of vertebral bodies, small epiphyses at the knees with metaphyseal flare may be present. Patients have normal metacarpal and phalangeal lengths, no distinctive facies nor neurologic complications.
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:0054680
- OMIM:617719
- UMLS:C4540251
Additional Mondo synonyms (2)
epiphyseal dysplasia, multiple, 7 · multiple epiphyseal dysplasia type 7
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
Research-stage checklist from open sources (GenCC, literature, Monarch when enriched, ClinicalTrials.gov). Not a prognosis or care recommendation.
- Gene identifiedNot found
No GenCC disease–gene assertion in this build
- LiteraturePresent
3 matched papers (3 in last 10 years) Source
- Phenotype characterisedPresent
10 HPO annotations (e.g. Short femoral neck; Genu varum; Advanced ossification of carpal bones) Source
- Animal modelNot found
No Alliance genotype “model of” associations via Monarch for these Mondo IDs
- Orphan designationNot found
No FDA or EMA orphan-drug designation matched this disease via UMLS or preferred name Source
- 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?
Not yet — the cause hasn't been pinned down in GenCC.
No strong gene–disease assertion joined for this Orphanet entity.
Phenotypes (Monarch / HPO)
10
Associated phenotypes · MONDO:0054680
- Short femoral neck
- Genu varum
- Advanced ossification of carpal bones
- Platyspondyly
- Vertebral wedging
Showing 5 of 10 — open Monarch for the full list.
Animal models (Monarch / Alliance)
None returned for this Mondo ID. Empty here is not proof that no model organism work exists under another name or gene.
Monarch fetch 2026-07-29
Therapies
Designations, candidates, and chemicals
FDA OOPD and EMA orphan designations, Open Targets clinical candidates, and CTD chemical associations via MyDisease.info. These never change the interventional-trial headline.
Orphan designation (FDA · EMA)
No designation matched this disease via UMLS or preferred name on the FDA OOPD mirror or EMA orphan register. Absence here is not proof that none exists under another wording.
Open Targets candidates
No drugs or clinical candidates returned for this Mondo ID on Open Targets.
CTD chemicals (MyDisease.info)
No CTD chemical associations returned for this Mondo ID.
Literature
Is anyone studying this?
3
3 papers have ever been indexed 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=3967) is 59.
3 papers since the earliest indexed year in this search — median last-10-year count for a rare disease in this dataset is 59 (publications denominator n=3967).
3 in the last 10 years · medium confidence · 16.4th percentile (publications denominator)
Phrase hits: 3 · MeSH hits: 0
Who's working on it?
2
Distinct author names in 3 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.
- 01Mizumoto S2 papers · 2021
Department of Pathobiochemistry, Faculty of Pharmacy, Meijo University, Nagoya, Japan.
Papers in Europe PMC - 02Yamada S2 papers · 2021
Department of Pathobiochemistry, Faculty of Pharmacy, Meijo University, Nagoya, Japan.
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 11 September 2026 · last trial check 11 September 2026
No matched interventional trials. This is true for 77.2% of diseases in the trials denominator (5501 of 7126). Here are the researchers publishing on it.
medium confidence · 38.6th 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.
Broader category multiple epiphyseal dysplasia also has no matched interventional trial. See who's working on it — people publishing on this disease are often the practical next contact when no trial is listed.
Broader category: multiple epiphyseal 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.
Other registries (secondary)
Broader net from EU CTIS, ISRCTN, and ICTRP when available — deduped against ClinicalTrials.gov IDs already counted above. Dual-model LLM relevance gates what we keep. These rows are not added to the interventional headline.
raw 61 · after dedupe 61 · already on CT.gov 0 · kept 0 · parent 0 · uncertain 61 · dropped 0 · fetched 2026-07-30
Source notes: ictrp: Error: ICTRP public search unavailable (WHO portal is SPA-only; SOAP needs partnership). Tried: https://apps.who.int/tri
No secondary-registry studies passed dual-model relevance for this condition name (after dedupe).
Uncertain / not reviewed (61)
- isrctn·ISRCTN54477575·No longer recruiting·British orthopaedic surgery surveillance study
skipped — LLM skipped (--skip-llm)
- ctis·2023-510098-33-01·Authorised·A Phase III, Multicentre, Randomised, Open-label Study to Compare the Efficacy and Safety of AZD0486 plus Rituximab versus Chemotherapy plus Rituximab in Previously Untreated Participants with Follicular Lymphoma (SOUNDTRACK-F1)
skipped — LLM skipped (--skip-llm)
- ctis·2025-521740-38-00·Authorised·A Phase I/II, randomized, placebo-controlled, multi-arm, dose-finding study to evaluate the
safety, efficacy and immunogenicity of an Acne mRNA vaccine candidate in adults with moderate to severe acne 18 to 45 years of age
skipped — LLM skipped (--skip-llm)
- ctis·2026-525382-47-00·Authorised·A Phase 2 Study of Alisertib in Combination with Paclitaxel in Patients with Small Cell Lung Cancer
skipped — LLM skipped (--skip-llm)
- ctis·2025-525106-37-00·Authorised·Comparative study of two vaccination schedules for the subunit Herpes Zoster vaccine in Multiple Sclerosis and Neuromyelitis optica spectrum disease patients treated with anti-CD20 therapy: an open-label randomised controlled trial.
skipped — LLM skipped (--skip-llm)
- ctis·2025-524816-13-00·Authorised·A Phase 2 Study Evaluating the Safety and Efficacy of Neoadjuvant Amivantamab in Combination with Lazertinib or Chemotherapy in Resectable EGFR-Mutated Non-Small Cell Lung Cancer
skipped — LLM skipped (--skip-llm)
- ctis·2025-522488-14-00·Authorised·A clinical study to compare efficacy and safety of two different doses of CagriSema and semaglutide in participants with obesity with or without type 2 diabetes
skipped — LLM skipped (--skip-llm)
- ctis·2025-524977-18-00·Authorised·Phase I/II Trial to Determine Safety and Efficacy of non-Viral Allogeneic Dual CD123/33-Chimeric Antigen Receptor CIK (CARCIK-CD123/33) Cells in Adult and Pediatric Patients with Relapse/Refractory Acute Myeloid Leukemia (AML) and Blastic Plasmacytoid Dendritic Cell Neoplasm (BPDCN)
skipped — LLM skipped (--skip-llm)
- ctis·2024-516251-40-01·Authorised·Multi-Center, Placebo-Controlled, Phase 3 Study of Etripamil Nasal Spray (NS) in Patients with Atrial Fibrillation and Rapid Ventricular Rate (RVR). The ReVeRA-301 Trial.
skipped — LLM skipped (--skip-llm)
- ctis·2024-518861-90-00·Authorised·Thromboprophylaxis with apixaban during neoadjuvant therapy for muscle-invasive bladder cancer (ACB): An international randomized controlled trial evaluating apixaban versus no anticoagulation in patients scheduled to undergo radical cystectomy or chemoradiotherapy for muscle-invasive bladder cancer
skipped — LLM skipped (--skip-llm)
- ctis·2025-523960-19-00·Authorised·An Open-Label, Randomized, Multicenter Phase 3 Study Investigating the Efficacy and Safety of BGB-43395 Plus Letrozole versus CDK4/6 Inhibitors (Abemaciclib, Palbociclib, Ribociclib) Plus Letrozole in Patients with Advanced or Metastatic HR+/HER2- Breast Cancer Who Have Not Received Prior Systemic Anticancer Treatment for Advanced or Metastatic Disease
skipped — LLM skipped (--skip-llm)
- ctis·2026-525862-23-00·Authorised·Evaluation of the effect of botulinum toxin on refractory upper limb rest tremor in parkinsonian patients, double-blind, placebo-controlled cross-over study : TOX PARK
skipped — LLM skipped (--skip-llm)
- ctis·2025-522409-39-00·Authorised·Immune Cell Therapy for People with Early, Active Multiple Sclerosis
skipped — LLM skipped (--skip-llm)
- ctis·2025-524054-34-00·Authorised·An Open-Label, Phase 3 Study to Evaluate the Efficacy and Safety of Salanersen (BIIB115) in Participants Aged 15-60 Years With Spinal Muscular Atrophy Who Are Either Treatment-Naïve or Have Previously Been Treated With Risdiplam
skipped — LLM skipped (--skip-llm)
- ctis·2025-525097-11-00·Authorised·Phase 3 Randomized Study of Teclistamab and Talquetamab (Tec-Tal) Versus Daratumumab and Lenalidomide (DR) in Minimal Residual Disease (MRD) Positive Patients With Newly Diagnosed Multiple Myeloma After Autologous Hematopoietic Stem Cell Transplantation (TiTan)
skipped — LLM skipped (--skip-llm)
- ctis·2025-524125-40-01·Authorised·Immune dynamics and biomarkers of anti-tumor response in BMS-986340 (anti-CCR8) and nivolumab (anti-PD-1) co-treatment of metastatic tumors
skipped — LLM skipped (--skip-llm)
- ctis·2025-524418-27-00·Authorised·A Phase 1/2, dose escalation and expansion study of TRI-611, an oral ALK molecular glue degrader in participants with advanced ALK-positive NSCLC
skipped — LLM skipped (--skip-llm)
- ctis·2026-526804-59-00·Authorised·Real-World Effectiveness of the Adjuvanted RSVPreF3 Vaccine in Adults ≥60 Years: A Pragmatic Randomized Trial (BronquiVal)
skipped — LLM skipped (--skip-llm)
- ctis·2026-525620-23-00·Authorised·Local and systemic immune modulation by Rilvegostomig (AZD2936) in the treatment of advanced gastric cancer (RILVE Project)
skipped — LLM skipped (--skip-llm)
- ctis·2025-520666-22-00·Authorised·A Phase 1/2a, Open-label, First-in-Human Study to Evaluate the Safety, Tolerability, Pharmacokinetics, Pharmacodynamics, and Efficacy of BMS-986528 in Participants with Refractory Rheumatoid Arthritis
skipped — LLM skipped (--skip-llm)
- ctis·2025-523933-24-00·Authorised·A Randomized, Open-label, Parallel-group Phase III Study to Evaluate the Efficacy, Safety, and Tolerability of Elecoglipron Compared with Oral Semaglutide in Adults with Type 2 Diabetes Mellitus (Eluminate-2)
skipped — LLM skipped (--skip-llm)
- ctis·2025-523874-17-00·Authorised·A Phase 1/2 First-Time-in-Human, open-label, multicenter, dose escalation and dose optimization study of GSK5471713 in adult participants with metastatic castration resistant prostate cancer (mCRPC).
skipped — LLM skipped (--skip-llm)
- ctis·2025-524336-19-00·Authorised·A Phase 3, Randomized, Open-label Study to Evaluate the Efficacy and Safety of Switching to a Regimen of Broadly Neutralizing
Antibodies Teropavimab and Zinlirvimab in Combination with Capsid Inhibitor Lenacapavir Twice Yearly in Virologically Suppressed Adults with HIV-1 Infection on Stable Oral Treatment Regimens
skipped — LLM skipped (--skip-llm)
- ctis·2025-524335-39-00·Authorised·A Phase 3, Randomized, Open-label Study to Evaluate the Efficacy and Safety of Switching to Long-acting Antiretroviral Therapy of Broadly Neutralizing Antibodies Teropavimab and Zinlirvimab in Combination With the Capsid Inhibitor Lenacapavir Twice-Yearly Versus Cabotegravir and Rilpivirine Every 8 Weeks in Virologically Suppressed Adults With HIV-1 on Oral Daily Antiretroviral Therapy
skipped — LLM skipped (--skip-llm)
- ctis·2025-524873-17-00·Authorised·A Phase 3, Double-blinded, Vehicle-controlled Trial to Investigate the Efficacy and Safety of Twice-daily Delgocitinib Cream in Adult Participants with Lichen Sclerosus During a 12-Week Initial Treatment Period Followed by a 40-Week Continuation Treatment Period
skipped — LLM skipped (--skip-llm)
Where to find support
Condition-specific patient organisations, when Orphanet lists them, are on the disease’s Orphanet page. We also link umbrella groups that support undiagnosed and ultra-rare families.
Orphanet entry for Multiple epiphyseal dysplasia type 7 — check Associations / patient organisations on that page.
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.
"Multiple epiphyseal dysplasia type 7" OR "CANT1-related multiple epiphyseal dysplasia" OR "epiphyseal dysplasia, multiple, 7"
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Multiple epiphyseal dysplasia type 7" OR "CANT1-related multiple epiphyseal dysplasia" OR "epiphyseal dysplasia, multiple, 7"
Study-type breakdown: 0 interventional · 0 observational · 0 expanded access. Only interventional studies enter the trial headline.
Parent-category trials query:
"multiple epiphyseal dysplasia"
Query health: ok — strategies attempted: phrase; with hits: phrase
Run this search on ClinicalTrials.gov
Synonyms dropped by stoplist: EDM7; MED7
Confidence reasoning
- Preferred label is multi-word and distinctive
- 2 synonym(s) dropped by stoplist (may under-count)
- No label/synonym collisions with other diseases in this corpus
Ingested 2026-07-27T19:47:05.178Z