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GENATLAS PHENOTYPE
last update : 1/09/2006
Symbol PKTS
Location 16p13.3
Name polycystic kidney disease, infantile, severe, with tuberous sclerosis
Other name(s) TSC2/PKD1 contiguous gene syndrome
Corresponding gene PKD1 , TSC2
Other symbol(s) PKDTS
Main clinical features
  • severe infantile form of the adult type with some features of tuberous sclerosis, . polycystic kidneys recognized at birth or shortly thereafter, characterized by a multitude of variably sized cysts closely resembling those more commonly seen in later life in the advanced stages of autosomal dominant polycystic kidney disease (PKD1)
  • Genetic determination chromosomal
    Function/system disorder kidney and urinary tract
    Type disease
    Mechanism(s)
    Gene mutationChromosome rearrangementEffectComments
      deletion   interstitial microdeletion of TSC2 and PKD1 loci
      translocation   unbalanced translocation with partial monosomy 16p13.3 and variable associated partial trisomy
    Remark(s) contiguous gene syndrome
    Genotype/Phenotype correlations in adults, observation of an angiomyolipoma in biopsy material should suggest the diagnosis