ORPHA:1493
Vici syndrome
Also known as: Corpus callosum agenesis-cataract-immunodeficiency syndrome · Dionisi-Vici-Sabetta-Gambarara syndrome
Query health: suspect — Only one of 2 strategies returned hits (phrase).
Publications
307
81.4th percentile
Trials
0
Interventional, condition-specific
Researchers
1,555
Distinct authors in sample
Gene link
EPG5
Definitive
Readiness
2/6
Stages with a signal
Clinical definition (Orphanet)
Vici syndrome is a very rare and severe multisystem disorder characterized by the principal features of agenesis of the corpus callosum, cataracts, oculocutaneous hypopigmentation, and combined immunodeficiency.
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:0009452
- MeSH:C535566
- OMIM:242840
- UMLS:C1855772
- NCIT:C138174
Additional Mondo synonyms (3)
absent corpus callosum-cataract-immunodeficiency syndrome · corpus callosum agenesis-cataract-immunodeficiency syndrome · immunodeficiency with cleft lip/palate, cataract, hypopigmentation, and absent corpus callosum
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 — EPG5
- LiteraturePresent
307 matched papers (240 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 (EPG5).
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?
307
307 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.
307 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).
240 in the last 10 years · medium confidence · 81.4th percentile (publications denominator)
Phrase hits: 307 · MeSH hits: 0
Who's working on it?
1,555
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.
- 01Jungbluth H25 papers · 2026
Department of Basic and Clinical Neuroscience, King's College London, 125 Coldharbour Lane, SE5 9NU London, UK; Department of Paediatric Neurology, Neuromuscular Service, Evelina's Children Hospital, Guy's & St. Thomas' Hospital NHS Foundation Trust, London, UK; Randall Division for Cell and Molecular Biophysics, Muscle Signaling Section, King's College London, London, UK.
Papers in Europe PMC - 02Fanto M14 papers · 2026
Department of Basic and Clinical Neuroscience, King's College London, 125 Coldharbour Lane, SE5 9NU London, UK. Electronic address: manolis.fanto@kcl.ac.uk.
Papers in Europe PMC - 03Dafsari HS13 papers · 2026
Department of Pediatrics, Faculty of Medicine and University Hospital Cologne, University of Cologne, 50937 Cologne, Germany.
Papers in Europe PMC - 04Dionisi-Vici C11 papers · 2025
Division of Metabolism, Bambino Gesù Children Hospital and Research Institute, IRCCS, 00165 Rome, Italy.
Papers in Europe PMC - 05Ebrahimi-Fakhari D10 papers · 2025
1] Division of Inherited Metabolic Diseases, Department of General Pediatrics, Heidelberg Children's Hospital, University Hospital Heidelberg, Ruprecht-Karls-University Heidelberg, Heidelberg, Germany [2] Institute of Anatomy and Cell Biology, Ruprecht-Karls University Heidelberg, Heidelberg, Germany.
Papers in Europe PMC - 06Zhang H10 papers · 2026
Kennedy Institute of Rheumatology NDORMS, University of Oxford, Oxford, UK.
Papers in Europe PMC - 07Gautel M9 papers · 2025
4 Randall Division of Cell and Molecular Biophysics, King's College London, British Heart Foundation Centre of Excellence, London, UK 5 Cardiovascular Division, King's College London, British Heart Foundation Centre of Excellence, London, UK.
Papers in Europe PMC - 08Deneubourg C6 papers · 2025
Department of Basic and Clinical Neuroscience, IoPPN, King's College London, London, UK.
Papers in Europe PMC - 09Saffari A6 papers · 2025
2 Division of Paediatric Neurology and Inherited Metabolic Diseases, Department of Paediatrics, Heidelberg University Hospital, Ruprecht-Karls-University Heidelberg, Heidelberg, Germany.
Papers in Europe PMC - 10Antebi A5 papers · 2025
Max-Planck-Institute for Biology of Ageing, Cologne Excellence Cluster on Cellular Stress Responses in Aging Associated Diseases (CECAD), Cologne, Germany.
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.
"Vici syndrome" OR "Corpus callosum agenesis-cataract-immunodeficiency syndrome" OR "Dionisi-Vici-Sabetta-Gambarara syndrome" OR "absent corpus callosum-cataract-immunodeficiency syndrome" OR "immunodeficiency with cleft lip/palate, cataract, hypopigmentation, and absent corpus callosum"
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Vici syndrome" OR "Corpus callosum agenesis-cataract-immunodeficiency syndrome" OR "Dionisi-Vici-Sabetta-Gambarara syndrome" OR "absent corpus callosum-cataract-immunodeficiency syndrome" OR "immunodeficiency with cleft lip/palate, cataract, hypopigmentation, and absent corpus callosum" OR "EPG5"
Recall-expansion terms: EPG5
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 2026-07-26T17:33:28.345Z