Caroli syndrome
ORPHA: 480520
Overview
human disease
Available Treatments (0)
No treatments linked yet
Clinical trials or compassionate use may be available — consult a specialist.
Clinical Presentation
Signs and symptoms associated with Caroli syndrome, sourced from HPO and Orphanet clinical annotations.
Elevated erythrocyte sedimentation rateCholangiocarcinomaConjunctival icterusLiver abscessSepsisAbnormal ductus choledochus morphologyIntrahepatic cholestasisAbnormal intrahepatic bile duct morphologyAbnormality of the kidneyJaundiceFeverAbdominal painHepatomegalyHyperbilirubinemiaConjugated hyperbilirubinemiaElevated circulating alkaline phosphatase concentrationChillsCholangitisAbdominal rigidityPolycystic kidney dysplasiaPruritusCirrhosisHepatic failurePortal hypertensionPancreatitisThrombocytopeniaDecreased total leukocyte countAbnormal bleedingHypersplenismIncreased total leukocyte countEsophageal varixHematemesisMelenaCongenital hepatic fibrosisElevated circulating hepatic transaminase concentration
Classification & Codes
Orphanet Code
ORPHA:480520Caroli syndrome
| Orphanet | ORPHA:480520 |
| Treatments | 0 drug(s) |
| Symptoms on record | 35 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO