Chromosome-associated with ADPKD is
S.NoDiseaseInheritance PathogenesisKidney featuresExtrarenal manifestations 1ADPKDADPKD1mutation in chr16pPKD2 mutation in chr 4qPKD1 produce polycystin-1PKD2 produce polycystin-2Enlarged kidneys, Multiple cysts in both kidneysDisease manifest only in adultsCysts in liver, spleen, pancreas and lung.Berry aneurysmMitral valve prolapse2ARPKDARMutation of PKHD1 in chr6pPKHD1 produce fibrocystinEnlarged kidneys, Cysts in both kidneysLiver cysts, congenital hepaticfibrosis and spleenomegaly3Medullarysponge kidneyNone UnceainCysts restricted to the collecting ducts of medulla None4Familial juvenile nephronophthisis ARMutation of NPH1 to NPH6NPH1 & NPH3-6 produce nephrocystinNPH2 produce inversin Shrunken kidney, Cysts in coicmedullary junction, salt wastingGrowth retardation,Liver fibrosis, ocular motor abnormalities, retinal dystrophy and cerebellar abnormalities5Adult-onset medullary cystic diseaseADMutation of MCKD1 and MCKD2Shrunken kidney, Cysts in coicmedullary junction, salt wastingNone 6Simple cystsNone UnceainMultiple cysts in normal sized kidneys HematuriaNone7Acquired renal cystic diseaseNone Renal dialysisCysts with end stage renal disease, calcium oxalate crystals, renal cell carcinoma None
14 and 16
14 and 13
16 and 4
16 and 14
Urinary tract