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GENATLAS PHENOTYPE
last update : 08-03-2022
Symbol PKDL1
Location 16p13.3
Name polycystic kidney disease like 1
Corresponding gene IFT140
Main clinical features
  • atypical, mild form of ADPKD, consisting of large bilateral cysts and renal functional decline in older ages
  • characterized by a few, larger cysts and in some cases asymmetry between the kidneys
  • possible vascular phenotype, including intracranial or aortic aneurysm, but liver cysts were rare
  • Genetic determination autosomal dominant
    Function/system disorder kidney and urinary tract
    Type disease
    Remark(s)