Polycystic Kidney Disease, Infantile Severe, with Tuberous Sclerosis

**Semantic type:** Disease or Syndrome

**Definition:** An autosomal dominant condition caused by a contiguous gene deletion involving the PKD1 and TSC2 genes, encoding polycystin-1 and tuberin respectively. It is characterized by polycystic kidneys and tuberous sclerosis.

**Synonyms:** - Autosomal Dominant Polycystic Kidney Disease Type 1 with Tuberous Sclerosis - PKDTS - TSC2-PKD1 Contiguous Gene Deletion Syndrome