Caroli syndrome

Summary
Definition
A syndrome that is characterized by the presence of associated congenital hepatic fibrosis and that is associated with autosomal recessive polycystic kidney disease.
Super Class
autosomal recessive disease bile duct disease hepatic vascular disease syndrome vein disease
Disease Ontology
DOID:0081394
Mondo Disease Ontology
GARD
MGI genotype (from TogoID)
Related Genes
Displaying 1 entry
Gene ID Gene Symbol Description Source
241035 Pkhd1 polycystic kidney and hepatic disease 1
Related Glycoprotein
Displaying 1 entry
UniProt ID Protein Name Source
E9PZ36 Fibrocystin

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Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01


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Last updated: December 8, 2025