Polycystic kidney disease 4 with or without polycystic liver disease - CISMeF
Polycystic kidney disease 4 with or without polycystic liver diseaseOMIM Phenotype
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);