| Associated Disorders | Clinical Manifestations |
| Caroli syndrome | portal hypertension, Angiocholitis (pain, fever, jaundice), liver abscess, intrahepatic calculus, cholangiocarcinoma (abdominal pain, jaundice, hepatomegaly), kidney abnormalities |
| Autosomal dominant polycystic kidney disease | Adult, hypertension, renal cysts, chronic renal failure, often asymptomatic hepatic cysts, hepatomegaly, digestive disorders, respiratory disorders or undernutrition, jaundice and portal hypertension, cerebral aneurysms |
| Autosomal recessive polycystic kidney disease | Child, neonatal respiratory failure, hyponatremia, hypertension, urinary tract infection, chronic end-stage renal disease |
| Nephronophthisis | Polyuro-polydipsia syndrome, persistent nocturnal enuresis, chronic renal failure |
| von Meyenburg complexes | Often asymptomatic, incidental to liver biopsy |
| COACH syndrome | Hypo/aplasia of the cerebellar vermis, oligophrenia, ataxia, coloboma |
| Senior Loken syndrome | Nephronophthisis, retinal dystrophy, hearing loss |
| Bardet-Biedl syndrome | Retinitis pigmentosa Polydactyly, obesity, hypogonadism |
| Arima syndrome | Hypoplasia of the cerebellar vermis, retinopathy, renal cyst, psychomotor delay, nystagmus, dysmorphic face |
| Meckel syndrome | Microcephaly, cystic kidney disease, hypoplastic genitalia, polydactyly, biliary tract dysplasia, liver cysts |
| Joubert syndrome | Hypoplasia of the cerebellar vermis; retinitis pigmentosa, nystagmus |