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ORPHA:131

Budd-Chiari syndrome

medium confidenceDisorder

Also known as: BCS

Publications

9,577

93.8th percentile

Trials

2

Interventional, condition-specific

Researchers

1,040

Distinct authors in sample

Gene link

—

Readiness

3/6

Stages with a signal

Clinical definition (Orphanet)

A rare vascular liver disease characterized by obstruction of hepatic venous outflow involving either the hepatic veins or the terminal segment of the inferior vena cava.

How rare: 1-9 / 100 000 — about one to nine people per hundred thousand.

Orphanet entry

Cross-references

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

Additional Mondo synonyms (1)

Budd-Chiari syndrome, somatic

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

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

    9,577 matched papers (4,051 in last 10 years) Source

  3. Phenotype characterisedPresent

    26 HPO annotations (e.g. Hepatocellular carcinoma; Cirrhosis; Budd-Chiari syndrome) Source

  4. Animal modelNot found

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

  5. Orphan designationNot found

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

  6. Interventional trialPresent

    2 matched on ClinicalTrials.gov (1 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)

26

Associated phenotypes · MONDO:0010947

  • Hepatocellular carcinoma
  • Cirrhosis
  • Budd-Chiari syndrome
  • Esophageal varix
  • Hepatomegaly

Showing 5 of 26 — 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)

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)

13 associated chemicals · 108 pathways. Therapeutic evidence is listed first when present — not a treatment recommendation.

  • Fondaparinux · therapeutic
  • Amphetamine · marker/mechanism
  • Contraceptive Agents · marker/mechanism
  • Contraceptive Agents, Female · marker/mechanism
  • Contraceptives, Oral · marker/mechanism
  • Cyproterone Acetate · marker/mechanism
  • Dacarbazine · marker/mechanism
  • Doxorubicin · marker/mechanism
  • Ethinyl Estradiol · marker/mechanism
  • Plant Extracts · marker/mechanism
  • retinol acetate · marker/mechanism
  • Thioguanine · marker/mechanism

Pathways: EGFR tyrosine kinase inhibitor resistance; Chemokine signaling pathway; PI3K-Akt signaling pathway; Signaling pathways regulating pluripotency of stem cells; Complement and coagulation cascades; Jak-STAT signaling pathway; Th1 and Th2 cell differentiation; Th17 cell differentiation

MyDisease.info · MONDO:0010947

Literature

Is anyone studying this?

9,577

9,577 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.

9,577 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).

4,051 in the last 10 years · medium confidence · 93.8th percentile (publications denominator)

Phrase hits: 9,577 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

1,040

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
    Agarwal A5 papers · 2026

    Department of Gastroenterology and Human Nutrition, All India Institute of Medical Sciences, New Delhi 110029, Delhi, India.

    Papers in Europe PMC
  2. 02
    Biswas S5 papers · 2026

    Department of Gastroenterology and Human Nutrition, All India Institute of Medical Sciences, New Delhi 110029, Delhi, India.

    Papers in Europe PMC
  3. 03
    Li S5 papers · 2026

    Clinical Research Institute, The Affiliated Hospital of Xuzhou Medical University, Xuzhou, China.

    Papers in Europe PMC
  4. 04
    Panigrahi MK5 papers · 2026

    Department of Medical Gastroenterology, AIIMS, Bhubaneswar, India.

    Papers in Europe PMC
  5. 05
    Shalimar5 papers · 2026

    Department of Gastroenterology and Human Nutrition, All India Institute of Medical Sciences, New Delhi 110029, Delhi, India. drshalimar@yahoo.com.

    Papers in Europe PMC
  6. 06
    Wang H5 papers · 2026

    Department of Hepatobiliary Surgery, Xuzhou Central Hospital, Xuzhou, Jiangsu, China.

    Papers in Europe PMC
  7. 07
    Zhang Q5 papers · 2026

    Department of Interventional Radiology, The Affiliated Hospital of Xuzhou Medical University, Xuzhou, China. Electronic address: 1427286069@qq.com.

    Papers in Europe PMC
  8. 08
    Agarwal S4 papers · 2026

    Department of Gastroenterology and Human Nutrition Unit, All India Institute of Medical Sciences, New Delhi, India.

    Papers in Europe PMC
  9. 09
    Chen Y4 papers · 2026

    Department of Radiology, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing, China.

    Papers in Europe PMC
  10. 10
    Gupta S4 papers · 2025

    Department of Surgical Gastroenterology, AIIMS, Bhubaneswar, India.

    Papers in Europe PMC

Clinical research

Is a treatment being tested?

2

interventional trials for this specific condition

2 interventional trials matched this specific condition name; 1 currently recruiting in our sample.

Data as of 11 September 2026

2 interventional trials — more than 77.2% of diseases in the trials denominator have none at all (5501 of 7126; this disease is at the 84.5th percentile).

medium confidence · 84.5th percentile (trials denominator)

Recruiting interventional trials

From the matched ClinicalTrials.gov set

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

Observational and natural-history studies

5 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 60 · after dedupe 59 · already on CT.gov 0 · kept 0 · parent 0 · uncertain 59 · 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 (59)

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 Budd-Chiari 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.

("Budd-Chiari syndrome" OR "Budd-Chiari syndrome, somatic")

Run this search on Europe PMC

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

"Budd-Chiari syndrome" OR "Budd-Chiari syndrome, somatic"

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: 2 interventional · 5 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

Synonyms dropped by stoplist: BCS

Confidence reasoning

  • Preferred label is multi-word and distinctive
  • 1 synonym(s) dropped by stoplist (may under-count)
  • No label/synonym collisions with other diseases in this corpus

Ingested 2026-07-26T12:33:36.714Z