Autosomal dominant polycystic kidney disease type 1 with tuberous sclerosis
ORPHA:88924· ICD-10 Q61.2
Definition
A rare contiguous gene syndrome involving a partial deletion of chromosome 16 and 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).
- Prevalence
- <1 / 1 000 000
- Inheritance
- Autosomal dominant
- Age of onset
- Adolescent, Childhood, Infancy