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Autosomal dominant polycystic kidney disease type 1 with tuberous sclerosis
Polycystic kidney disease with tuberous sclerosis (PKD-TSC) is characterised 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).
So far, just over 30 cases have been reported in the literature.
PKD-TSC is a contiguous gene syndrome caused by a large deletion involving both the PKD1 and TSC2 genes (16p13.3).
Transmission is autosomal dominant.