Pediatric Nephrology Terminology PKHD1 Gene Cellosaurus Disease Terminology Polycystic Kidney Disease Autosomal Recessive Polycystic Kidney Disease C0085548 C84579 Autosomal Recessive Polycystic Kidney Disease Autosomal Recessive Polycystic Kidney Cellosaurus NICHD Polycystic Kidney Disease, Infantile Type Autosomal recessive polycystic kidney disease caused by a mutation(s) in PKHD1 that is always associated with liver disease. Polycystic kidney disease inherited in an autosomal recessive pattern. Patients present with progressive renal failure early in life. The autosomal recessive trait is associated with abnormalities of chromosome 6. Disease or Syndrome Autosomal Recessive Polycystic Kidney Disease NICHD Terminology Neonatal Research Network Terminology