" /> Polycystic kidney disease 4 with or without polycystic liver disease - CISMeF





Preferred Label : Polycystic kidney disease 4 with or without polycystic liver disease;

Symbol : PKD4;

CISMeF acronym : ARPKD; PKD3; PKD4; PKHD1;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Polycystic kidney disease 4 with or without hepatic disease; Polycystic kidney disease, autosomal recessive; Polycystic kidney and hepatic disease 1; Polycystic kidney disease, Infantile, type I; Pkd3; ARPKD; PKHD1;

Included titles and symbols : Hepatic fibrosis, congenital;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the PKHD1 gene (606702.0001);

Prefixed ID : #263200;

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29/07/2025


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