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GENATLAS PHENOTYPE

last update : 06-06-2018

Symbol	PKLD
Location	11q12.3
Name	Polycystic Kidney and Liver Disease
Corresponding gene	GANAB
Other symbol(s)	PKD3
Main clinical features	multiple kidney cysts and a few liver cysts renal phenotype associated with GANAB mutations is consistently mild without renal insufficiency, such that any kidney enlargement is due to a few large cysts liver disease is variable and ranges from no cysts to severe PLD requiring surgical intervention
Genetic determination	autosomal dominant
Prevalence	0.3p100 total of PKD
Function/system disorder	digestive tract/liver and annex
	kidney and urinary tract
Type	disease

Remark(s)