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Autosomal dominant polycystic kidney disease type 1 with tuberous sclerosis

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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).

Identifiers
MONDO:0010856 OMIM:600273Orphanet:88924
Part of
Familial cystic renal diseasePartial deletion of the short arm of chromosome 16
Also known as
PKDTS · polycystic kidney disease, infantile severe, with tuberous sclerosis · polycystic kidneys, severe infantile with tuberous sclerosis · tuberous sclerosis polycystic kidney disease contiguous gene syndrome · tuberous sclerosis/polycystic kidney disease contiguous gene syndrome

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