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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 mutation	Chromosome rearrangement	Effect	Comments
	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