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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).
ORPHA:88924Classification level: Disorder
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.