ORPHA:480531
Congenital portosystemic shunt
Also known as: Congenital portosystemic venous fistula
Clinical definition (Orphanet)
portosystemic shunt is a rare, anomaly of the great veins characterized by an abnormal communication between one or more veins of the portal and the caval systems, resulting in complete or partial diversion of the portal blood away from the liver to the systemic circulation. Clinical manifestations include liver atrophy, hypergalactosemia without uridine diphosphate deficiency, , (resulting in learning disabilities, extreme fatigability and ), pulmonary hypertension, hypoxemia from hepatopulmonary syndrome and benign or malignant tumours.
How rare: 1-9 / 100 000 — about one to nine people per hundred thousand.
Is anyone studying this?
537
537 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=183) is 38.
537 papers since the earliest indexed year in this search — median last-10-year count for a rare disease in this dataset is 38 (publications denominator n=183).
372 in the last 10 years · high confidence · 88.3th percentile (publications denominator)
Is a treatment being tested?
0
trials for this specific condition
No interventional trial testing a treatment matched this specific condition name. 2 observational studies did — shown below because natural-history and cohort work can be an important step toward a trial.
Data as of 26 July 2026
No matched interventional trials. This is true for 59.2% of diseases in the trials denominator (151 of 255). Here are the researchers publishing on it.
high confidence · 29.6th percentile (trials denominator)
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.
Who's working on it?
1,080
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.
- 01Lipscomb V6 papers · 2026
Department of Veterinary Clinical Sciences, Royal Veterinary College, Hatfield, Herts, AL9 7TA, UK.
Papers in Europe PMC - 02Lipscomb VJ6 papers · 2026
Department of Clinical Science and Services, Royal Veterinary College, University of London, London, United Kingdom.
Papers in Europe PMC - 03Franchi-Abella S5 papers · 2026
Université Paris-Saclay, Faculté de médecine, Le Kremlin-Bicêtre, France.
Papers in Europe PMC - 04Kummeling A5 papers · 2025
Faculty of Veterinary Medicine, Clinical Sciences of Companion Animals, Utrecht University, Utrecht, 3508, The Netherlands.
Papers in Europe PMC - 05Tivers MS5 papers · 2025
Paragon Veterinary Referrals, Red Hall Crescent, Wakefield, United Kingdom.
Papers in Europe PMC - 06Lidbury JA4 papers · 2025
Gastrointestinal Laboratory, Department of Small Animal Clinical Sciences, College of Veterinary Medicine and Biomedical Sciences, Texas A&M University, College Station, Texas.
Papers in Europe PMC - 07Steiner JM4 papers · 2025
Gastrointestinal Laboratory, Department of Small Animal Clinical Sciences, College of Veterinary Medicine and Biomedical Sciences, Texas A&M University, College Station, Texas.
Papers in Europe PMC - 08Suchodolski JS4 papers · 2025
Gastrointestinal Laboratory, Department of Small Animal Clinical Sciences, College of Veterinary Medicine and Biomedical Sciences, Texas A&M University, College Station, Texas.
Papers in Europe PMC - 09Tivers M4 papers · 2023
Department of Veterinary Clinical Sciences, Royal Veterinary College, Hatfield, Herts, AL9 7TA, UK.
Papers in Europe PMC - 10Asano K3 papers · 2026
Laboratory of Veterinary Surgery, Department of Veterinary Medicine, College of Bioresource Sciences, Nihon University, Fujisawa, Kanagawa, Japan.
Papers in Europe PMC
Recruiting interventional trials
Trials testing a treatment 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 above — people publishing on this disease are often the practical next contact when no trial is listed.
Observational and natural-history studies
2 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
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 below but are not added to the query string.
"Congenital portosystemic shunt" OR "Congenital portosystemic venous fistula"
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Congenital portosystemic shunt" OR "Congenital portosystemic venous fistula"
Study-type breakdown: 0 interventional · 2 observational · 0 expanded access. Only interventional studies enter the trial headline.
Cross-references (from Mondo): UMLS:C1290495
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