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ORPHA:890

Hepatic veno-occlusive disease

low confidenceDisorder

Also known as: Sinusoidal obstruction syndrome

Publications

14,891

Trials

18

Interventional, condition-specific

Researchers

1,313

Distinct authors in sample

Gene link

—

Readiness

4/6

Stages with a signal

Clinical definition (Orphanet)

A rare vascular liver disease characterized by toxic injury to the hepatic sinusoidal capillaries that leads to obstruction of the small hepatic veins and sinusoids. Clinical manifestations include painful , jaundice, and fluid retention that manifests by weight gain, edemas, and ascites.

How rare: How common this is has not been clearly measured.

Orphanet entry

Cross-references

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

Additional Mondo synonyms (4)

Budd Chiari Syndrome · hepatic Vod · liver veno-occlusive disease · sinusoidal obstruction syndrome

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

An interventional trial matched this condition name on ClinicalTrials.gov — see trials below.

  1. Gene identifiedNot found

    No GenCC disease–gene assertion in this build

  2. LiteraturePresent

    14,891 matched papers (7,177 in last 10 years) Source

  3. Phenotype characterisedPresent

    57 HPO annotations (e.g. Renal insufficiency; Hepatomegaly; Respiratory failure) Source

  4. Animal modelNot found

    No Alliance genotype “model of” associations via Monarch for these Mondo IDs

  5. Orphan designationPresent

    2 FDA · 2 EMA designations (1 FDA orphan-indication approval) — e.g. defibrotide Source

  6. Interventional trialPresent

    18 matched on ClinicalTrials.gov (3 recruiting in sample)

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)

57

Associated phenotypes · MONDO:0019514

  • Renal insufficiency
  • Hepatomegaly
  • Respiratory failure
  • Elevated circulating hepatic transaminase concentration
  • Increased total bilirubin

Showing 5 of 57 — 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)

4

Designations · 1 with FDA orphan-indication approval

  • FDA defibrotideHepatic Veno-Occlusive Disease · 2007-01-08 · Not FDA Approved for Orphan Indication
  • EMA defibrotideTreatment of hepatic veno-occlusive disease · 29/07/2004 · PositiveEMA designation
  • EMA defibrotidePrevention of hepatic veno-occlusive disease · 29/07/2004 · WithdrawnEMA designation
  • FDA defibrotide (Defitelio)Hepatic Veno-Occlusive Disease · 2003-05-21

Sources: FDA OOPD · EMA orphan designations

Open Targets candidates

9

Drugs / clinical candidates · MONDO_0019514

CTD chemicals (MyDisease.info)

56 associated chemicals · 47 pathways. Therapeutic evidence is listed first when present — not a treatment recommendation.

  • Amifostine · therapeutic
  • cobaltiprotoporphyrin · therapeutic
  • Curcumin · therapeutic
  • defibrotide · therapeutic
  • Leu-Ser-Lys-Leu peptide · therapeutic
  • liquiritigenin · therapeutic
  • liquiritin · therapeutic
  • Melatonin · therapeutic
  • obeticholic acid · therapeutic
  • olprinone · therapeutic
  • Thioguanine · therapeutic
  • Vincristine · therapeutic

Pathways: Rap1 signaling pathway; Cytokine-cytokine receptor interaction; p53 signaling pathway; Phagosome; PI3K-Akt signaling pathway; TGF-beta signaling pathway; Focal adhesion; ECM-receptor interaction

MyDisease.info · MONDO:0019514

Literature

Is anyone studying this?

14,891

14,891 papers — among the better-studied rare conditions, though still a fraction of common-disease literature (breast cancer: over 700,000). Median papers in the last 10 years for a rare disease in this dataset (publications denominator n=3967) is 59.

14,891 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).

7,177 in the last 10 years · low confidence

Phrase hits: 14,891 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

1,313

Distinct author names in 200 sampled papers — named people below.

Who's working on it?

People publishing on this condition (sampled Europe PMC records). Affiliation is the most recent found in that sample.

  1. 01
    Liu Y8 papers · 2026

    Postgraduate Training Base of Jinzhou Medical University (The PLA Rocket Force Characteristic Medical Center), Beijing, China.

    Papers in Europe PMC
  2. 02
    Chen Y7 papers · 2026

    Department of Pharmacy, The First Affiliated Hospital of Guangxi Medical University, Nanning, Guangxi, China.

    Papers in Europe PMC
  3. 03
    Zhang F6 papers · 2026

    School of Medicine, Southeast University, Nanjing, Jiangsu, China.

    Papers in Europe PMC
  4. 04
    Chen J5 papers · 2026

    Lishui District Jingqiao Central Health Center, Nanjing, Jiangsu, China.

    Papers in Europe PMC
  5. 05
    Wang L5 papers · 2026

    Department of Gastroenterology, Nanjing Drum Tower Hospital, Affiliated Hospital of Medical School, Nanjing University, Nanjing, Jiangsu, China.

    Papers in Europe PMC
  6. 06
    Zhang Y5 papers · 2026

    Department of Radiation Oncology, First Affiliated Hospital of Kunming Medical University, Kunming, China.

    Papers in Europe PMC
  7. 07
    Li S4 papers · 2026

    BGI Genomics, BGI-Shenzhen, Shenzhen, China

    Papers in Europe PMC
  8. 08
    Wang H4 papers · 2026

    Center for Interventional Medicine, The Fifth Affiliated Hospital, Sun Yat-sen University, Zhuhai, Guangdong Province, China

    Papers in Europe PMC
  9. 09
    Wang J4 papers · 2026

    Endoscopy Center, Zhongshan Hospital, Fudan University, Shanghai, China.

    Papers in Europe PMC
  10. 10
    Wang X4 papers · 2026

    Department of Interventional Radiology, Zhongshan Hospital Fudan University, Fudan University, 180 Fenglin Road, Shanghai, 200032, China. 18211320012@fudan.edu.cn.

    Papers in Europe PMC

Clinical research

Is a treatment being tested?

18

interventional trials for this specific condition

18 interventional trials matched this specific condition name; 3 currently recruiting in our sample.

Data as of 11 September 2026

18 interventional trials — more than 77.2% of diseases in the trials denominator have none at all (5501 of 7126; this disease is at the 94.5th percentile).

low confidence · 94.5th percentile (trials denominator)

Recruiting interventional trials

From the matched ClinicalTrials.gov set

18 interventional trials matched after quoted-phrase search and title/condition post-filter.

Observational and natural-history studies

11 observational studies match this condition. These do not test a treatment and are not counted in the interventional-trial headline, but they are genuine research: natural-history work often defines the endpoints needed for a future rare-disease trial, and families may be able to enroll.

Recruiting or not-yet-recruiting

Open the complete matched search on ClinicalTrials.gov

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 15 · after dedupe 15 · already on CT.gov 0 · kept 0 · parent 0 · uncertain 15 · 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).

Uncertain / not reviewed (15)

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 Hepatic veno-occlusive disease — 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.

"Hepatic veno-occlusive disease" OR "Sinusoidal obstruction syndrome" OR "Budd Chiari Syndrome" OR "hepatic Vod" OR "liver veno-occlusive disease"

Run this search on Europe PMC

ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):

"Hepatic veno-occlusive disease" OR "Sinusoidal obstruction syndrome" OR "Budd Chiari Syndrome" OR "hepatic Vod" OR "liver veno-occlusive disease"

Interventional trials matched via: phrase (mesh = registered under a MeSH descriptor no name phrase would catch; recall-expansion = gene / selected parent terms used only for trials).

Study-type breakdown: 18 interventional · 11 observational · 1 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 multi-word and distinctive
  • No synonyms dropped by stoplist
  • No label/synonym collisions with other diseases in this corpus
  • Publication count (14891) is extremely high with unknown/missing prevalence — treat as possible over-matching, not proven research intensity

Ingested 2026-07-26T15:47:04.611Z