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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).

ORPHA:88924

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: -

  A summary on this disease is available in Deutsch (2008) Español (2008) Français (2008) Italiano (2008) Nederlands (2008) Português (2008)

Additional information

Further information on this disease

Patient-centred resources for this disease

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Specialised Social Services

The documents contained in this web site are presented for information purposes only. The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment.