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congenital portosystemic shunt - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

congenital portosystemic shunt

MONDO:0018811

Also known as:congenital portosystemic venous fistula

Find Clinical TrialsTrials

Overview

Congenital portosystemic shunt is a rare, congenital 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 enzyme deficiency, hyperammonemia, encephalopathy (resulting in learning disabilities, extreme fatigability and seizures), pulmonary hypertension, hypoxemia from hepatopulmonary syndrome and benign or malignant tumors.

Clinical Trials2 registered

Diagnosis

Biomarker and diagnostic research for congenital portosystemic shunt has been reported in the published literature.

Research Landscape

Sourced from ClinicalTrials.gov and PubMed. Publication types are classified using NLM-curated article metadata; research type breakdowns reflect the nature of published work for this disease.

2 clinical trials registered. Interventions under study include gene therapy and procedural interventions. Research is primarily sponsored by academic and government institutions.

68 publications have been identified in PubMed for congenital portosystemic shunt. Research spans Case Report / Case Series (56%), Review / Meta-Analysis (12%), and Epidemiology / Natural History (12%).

Research Type	Count	% of Total
Patient case studies	38	56%

Data assembled from 4 of 12 sources · Last updated Sep 19, 2026, 2:41 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

Orphanet

European rare disease database

Orphanet:480531

GARD

Genetic and Rare Diseases Info Center

GARD:21979

Questions for Your Care Team

→Are any of the 2 active clinical trials a good fit for my situation?
→Are there specialists or centers of excellence for this condition in my area?
→Is there a patient registry I should consider joining?

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congenital portosystemic shunt

Overview

Diagnosis

Research Landscape

Medical References

External Resources

Orphanet

GARD

Questions for Your Care Team

Questions for Your Care Team

Recent Publications

Latest News & Developments

Congenital portosystemic shunt (CPSS)/Abernethy malformation: morpho-molecular aspects of a rare hepatic tumour risk disease.

congenital portosystemic shunt

Overview

Diagnosis

Research Landscape

Medical References

External Resources

Orphanet

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

Recent Publications

Latest News & Developments

Congenital portosystemic shunt (CPSS)/Abernethy malformation: morpho-molecular aspects of a rare hepatic tumour risk disease.