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References OMIM Gene GeneReviews HGMD HGNC
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