/autosomal dominant polycystic kidney disease type 1 with tuberous sclerosis

autosomal dominant polycystic kidney disease type 1 with tuberous sclerosis

Rare Disease

MONDO:0010856

Also Known As

tuberous sclerosis/polycystic kidney disease contiguous gene syndromePKDTSchromosome 16P13.3 deletion syndrome, distalpolycystic kidney disease, infantile severe, with tuberous sclerosispolycystic kidneys, severe infantile with tuberous sclerosistuberous sclerosis polycystic kidney disease contiguous gene syndrome

Definition

Polycystic kidney disease with tuberous sclerosis (PKD-TSC) is characterized by early-onset and severe polycystic kidney disease with various manifestations of tuberous sclerosis (multiple angiomyolipomas, lymphangioleiomyomatosis and periventricular calcifications of the central nervous system).