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Autosomal dominant polycystic kidney disease type 1 with tuberous sclerosis

Disease 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).


Classification level: Disorder
  • Synonym(s):
    • PKDTS
    • TSC2/PKD1 contiguous gene syndrome
    • Tuberous sclerosis/polycystic kidney disease contiguous gene syndrome
  • Prevalence: <1 / 1 000 000
  • Inheritance: Autosomal dominant 
  • Age of onset: -
  • ICD-10: Q61.2
  • ICD-11: LD2F.1Y
  • OMIM: 600273
  • UMLS: C1838327
  • MeSH: -
  • GARD: 9481
  • MedDRA: -
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