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ORPHA:1493

Vici syndrome

low confidenceDisorder

Also known as: Corpus callosum agenesis-cataract-immunodeficiency syndrome · Dionisi-Vici-Sabetta-Gambarara syndrome

Publications

778

Trials

0

Interventional, condition-specific

Researchers

1,555

Distinct authors in sample

Gene link

EPG5

Definitive

Readiness

4/6

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.

Orphanet entry

Cross-references

Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.

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.”

4/6 stages with a signal

No matched interventional trial, but a gene association and an animal model are on record — often described as translation-ready / stalled at the clinical step.

  1. Gene identifiedPresent

    Definitive — EPG5

  2. LiteraturePresent

    778 matched papers (683 in last 10 years) Source

  3. Phenotype characterisedPresent

    103 HPO annotations (e.g. Epicanthus; Elevated circulating creatine kinase activity; Abnormal posturing) Source

  4. Animal modelPresent

    1 genotype model (Danio rerio) Source

  5. Orphan designationNot found

    No FDA or EMA orphan-drug designation matched this disease via UMLS or preferred name Source

  6. 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)

103

Associated phenotypes · MONDO:0009452

  • Epicanthus
  • Elevated circulating creatine kinase activity
  • Abnormal posturing
  • Dilated cardiomyopathy
  • Cleft palate

Showing 5 of 103 — open Monarch for the full list.

Animal models (Monarch / Alliance)

1

Model associations linked to this Mondo ID

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?

778

778 papers have been published on this condition. That is a real research literature — still far smaller than common diseases (breast cancer: over 700,000 papers). Median papers in the last 10 years for a rare disease in this dataset (publications denominator n=3967) is 59.

778 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).

683 in the last 10 years · low confidence

Phrase hits: 307 · MeSH hits: 0

Open Europe PMC search

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.

  1. 01
    Jungbluth 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
  2. 02
    Fanto 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
  3. 03
    Dafsari HS13 papers · 2026

    Department of Pediatrics, Faculty of Medicine and University Hospital Cologne, University of Cologne, 50937 Cologne, Germany.

    Papers in Europe PMC
  4. 04
    Dionisi-Vici C11 papers · 2025

    Division of Metabolism, Bambino Gesù Children Hospital and Research Institute, IRCCS, 00165 Rome, Italy.

    Papers in Europe PMC
  5. 05
    Ebrahimi-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
  6. 06
    Zhang H10 papers · 2026

    Kennedy Institute of Rheumatology NDORMS, University of Oxford, Oxford, UK.

    Papers in Europe PMC
  7. 07
    Gautel 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
  8. 08
    Deneubourg C6 papers · 2025

    Department of Basic and Clinical Neuroscience, IoPPN, King's College London, London, UK.

    Papers in Europe PMC
  9. 09
    Saffari 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
  10. 10
    Antebi 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 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.

low 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.

See who's working on it — people publishing on this disease are often the practical next contact when no trial is listed.

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 0 · after dedupe 0 · already on CT.gov 0 · kept 0 · parent 0 · uncertain 0 · dropped 0 · fetched 2026-07-29

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).

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 Vici syndrome — check Associations / patient organisations on that page.

India — NPRD

Last verified 2026-07-26

This 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") OR ("EPG5" OR "EPG5 syndrome" OR "EPG5-related")

Run this search on Europe PMC

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"

Study-type breakdown: 0 interventional · 0 observational · 0 expanded access. Only interventional studies enter the trial headline.

Query health: ok — strategies attempted: phrase; 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
  • Publication count (778) is implausibly high for prevalence class "<1 / 1 000 000" — treat as possible over-matching, not a measure of research intensity

Ingested 2026-07-26T17:33:28.345Z