ORPHA:79124
Hepatic veno-occlusive disease-immunodeficiency syndrome
Also known as: VODI syndrome
Query health: suspect — Only one of 3 strategies returned hits (phrase).
Publications
2
12.1th percentile
Trials
0
Interventional, condition-specific
Researchers
10
Distinct authors in sample
Gene link
SP110
Definitive
Readiness
3/6
Stages with a signal
Clinical definition (Orphanet)
A rare syndrome with combined immunodeficiency characterized by the association of severe hypogammaglobulinemia, combined T and B cell immunodeficiency, absent lymph node germinal centers, absent tissue plasma cells and hepatic veno-occlusive disease.
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:0009338
- MeSH:C537257
- OMIM:235550
- UMLS:C1856128
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.”
3/6 stages with a signal
No specific-condition interventional trial, but broader-category trials exist — discuss eligibility with a clinician.
- Gene identifiedPresent
Definitive — SP110
- LiteraturePresent
2 matched papers (2 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 trialPartial
None under the specific name; 7 for broader category hepatic veno-occlusive disease
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 (SP110).
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?
2
2 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=5449) is 41.
2 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).
2 in the last 10 years · high confidence · 12.1th percentile (publications denominator)
Phrase hits: 2 · MeSH hits: 0
Who's working on it?
10
Distinct author names in 2 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.
- 01Abolhassani H1 paper · 2023
Research Center for Immunodeficiencies, Pediatrics Center of Excellence, Children's Medical Center, Tehran University of Medical Sciences, Tehran, Iran.
Papers in Europe PMC - 02Ayati A1 paper · 2023
Research Center for Advanced Technologies in Cardiovascular Medicine, Tehran Heart Center, Tehran University of Medical Science, Tehran, Iran.
Papers in Europe PMC - 03Ebadi M1 paper · 2024
Department of Biology, Damghan Branch, Islamic Azad University, Damghan, Iran.
Papers in Europe PMC - 04Ghoraeian P1 paper · 2024
Department of Genetics, Faculty of Advanced Science and Technology, Tehran Medical Sciences, Islamic Azad University, Tehran, Iran.
Papers in Europe PMC - 05Mardani M1 paper · 2023
School of Medicine, Tehran University of Medical Sciences, Tehran, Iran.
Papers in Europe PMC - 06Mohammadi F1 paper · 2023
School of Medicine, Tehran University of Medical Sciences, Tehran, Iran.
Papers in Europe PMC - 07Mohammadi P1 paper · 2024
Department of Biology, Damghan Branch, Islamic Azad University, Damghan, Iran.
Papers in Europe PMC - 08Noruzinia M1 paper · 2024
Department of Medical Genetics, Faculty of Medicine, Tarbiat Modares University, Tehran, Iran. Email: Noruzinia@modares.ac.ir.
Papers in Europe PMC - 09Rezaei N1 paper · 2023
Universal Scientific Education and Research Network (USERN), Network of Immunity in Infection, Malignancy and Autoimmunity (NIIMA), Tehran, Iran.
Papers in Europe PMC - 10Yadegar A1 paper · 2023
School of Medicine, Tehran University of Medical Sciences, Tehran, Iran.
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). 7 trials are registered for hepatic veno-occlusive disease, the broader category — shown separately because they may or may not enrol this specific subtype.
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.
high 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.
7 interventional trials matched hepatic veno-occlusive disease, the broader category — listed below. Those studies are not counted in the condition-specific total.
Broader category: hepatic veno-occlusive disease
7
Interventional trials for the parent category, exclusive of NCT IDs already counted above. Eligibility for this subtype is not guaranteed.
Worth raising with a clinician. How we count trials.
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.
"Hepatic veno-occlusive disease-immunodeficiency syndrome" OR "VODI syndrome"
MeSH descriptor terms unioned into the query: Hepatic venoocclusive disease with immunodeficiency
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Hepatic veno-occlusive disease-immunodeficiency syndrome" OR "VODI syndrome" OR "Hepatic venoocclusive disease with immunodeficiency" OR "SP110" OR "hepatic vascular disorder"
Recall-expansion terms: SP110, hepatic vascular disorder
Study-type breakdown: 0 interventional · 0 observational · 0 expanded access. Only interventional studies enter the trial headline.
Parent-category trials query:
"hepatic veno-occlusive disease"
Query health: suspect — strategies attempted: phrase, mesh, recall-expansion; with hits: phrase
Run this search on ClinicalTrials.gov
Confidence reasoning
- Preferred label is multi-word and distinctive
- No synonyms dropped by stoplist
- No label/synonym collisions with other diseases in this corpus
Ingested 2026-07-27T01:58:20.005Z