ORPHA:898
Wagner disease
Also known as: Dominant hyaloideoretinal dystrophy of Wagner · VCAN-related vitreoretinopathy · Vitreoretinal degeneration, Wagner type · Wagner syndrome
Query health: suspect — Only one of 2 strategies returned hits (phrase).
Publications
250
70.6th percentile
Trials
0
Interventional, condition-specific
Researchers
1,232
Distinct authors in sample
Gene link
VCAN
Definitive
Readiness
2/6
Stages with a signal
Clinical definition (Orphanet)
Wagner disease is a rare vitreoretinopathy characterized by an anomaleous vitreous associated with myopia, cataract, chorioretinal atrophy, and peripheral tractional or rhegmatogenous retinal detachment.
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:0007740
- MeSH:C536075
- OMIM:143200
- UMLS:C1840452
Additional Mondo synonyms (2)
dominant hyaloideoretinal dystrophy of Wagner · vitreoretinal degeneration, Wagner type
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 — VCAN
- LiteraturePresent
250 matched papers (128 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 (VCAN).
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?
250
250 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.
250 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).
128 in the last 10 years · medium confidence · 70.6th percentile (publications denominator)
Phrase hits: 250 · MeSH hits: 0
Who's working on it?
1,232
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.
- 01Snead MP8 papers · 2026
Department of Ophthalmology, Addenbrooke's Hospital, Cambridge, UK.
Papers in Europe PMC - 02Rothschild PR7 papers · 2022
AP-HP, Groupe Hospitalier Cochin-Hôtel-Dieu, Service d'ophtalmologie, Université Paris Descartes, Sorbonne Paris Cité, Paris, France ; INSERM, Centre de Recherche des Cordeliers, Paris, France.
Papers in Europe PMC - 03Edwards AO6 papers · 2008
Department of Ophthalmology, Mayo Clinic, Rochester, MN 55905, USA. edwardslab@mayo.edu
Papers in Europe PMC - 04Richards AJ6 papers · 2026
MRC Connective Tissue Genetics Group, University of Cambridge, Department of Pathology, Cambridge CB2 1QP, UK.
Papers in Europe PMC - 05Brézin AP5 papers · 2017
Assistance Publique-Hôpitaux de Paris, Groupe Hospitalier Cochin-Hôtel-Dieu, Service d'ophtalmologie, Université Paris Descartes, Sorbonne Paris Cité, Paris, France.
Papers in Europe PMC - 06Valleix S5 papers · 2017
Institut National de la Santé et de la Recherche Médicale, Centre de Recherche des Cordeliers, Unité Mixte de Recherche 1138, équipe 17, Paris, France; Université Paris-Descartes, Sorbonne Paris Cité, Assistance Publique-Hôpitaux de Paris, Laboratoire de Biologie et Génétique Moléculaire, Hôpital Cochin, Paris, France.
Papers in Europe PMC - 07Young TL5 papers · 2017
Department of Ophthalmology and Visual Sciences, University of Wisconsin, Madison, Wisconsin, United States.
Papers in Europe PMC - 08Black GC4 papers · 2022
University Department of Medical Genetics and Regional Genetic Service, St. Mary's Hospital, Manchester, England. gblack@fs1.cmht.nwest.nhs.uk
Papers in Europe PMC - 09Chen X4 papers · 2021
Department of Ophthalmology, The First Affiliated Hospital of Nanjing Medical University, State Key Laboratory of Reproductive Medicine, Nanjing, China.
Papers in Europe PMC - 10Li H4 papers · 2025
BGI-Anhui Clinical Laboratory, BGI-Shenzhen, 236000, Fuyang, China.
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.
"Wagner disease" OR "Dominant hyaloideoretinal dystrophy of Wagner" OR "Dominant hyaloideoretinal dystrophy of the Wagner" OR "VCAN-related vitreoretinopathy" OR "Vitreoretinal degeneration, Wagner type" OR "Wagner syndrome"
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Wagner disease" OR "Dominant hyaloideoretinal dystrophy of Wagner" OR "Dominant hyaloideoretinal dystrophy of the Wagner" OR "VCAN-related vitreoretinopathy" OR "Vitreoretinal degeneration, Wagner type" OR "Wagner syndrome" OR "VCAN"
Recall-expansion terms: VCAN
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 short or not clearly distinctive
- No synonyms dropped by stoplist
- No label/synonym collisions with other diseases in this corpus
Ingested 2026-07-26T15:49:23.984Z