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GENATLAS PHENOTYPE
last update : 06-06-2018
Symbol ARPKD
Location 6p12.3
Name polycystic kidney disease, infantile type with hepatic fibrosis 1
Other name(s) polycystic kidney disease 4, with or without hepatic disease
Corresponding gene PKHD1
Other symbol(s) PKHD1, PKD4
Main clinical features
  • hepatorenal fibrocystic syndrome
  • in infancy, 'Potter's face' ('squashed' nose, micrognathia, large, floppy, low-set ears) is present in most cases, enlarged echogenic polycystic kidneys, with pulmonary hypoplasia resulting from oligohydramnios as a major cause of morbidity and mortality with liver involvement in approximately 45% of infants
  • collecting-duct ectasia in the kidney and ductal-plate malformation in the liver indicates that the basic defect of ARPKD may be a failure of terminal differentiation in the collecting-duct and biliary systems
    • Genetic determination autosomal recessive
    Prevalence 1/ 7000-20000
    Function/system disorder digestive tract/gastrointestinal
    kidney and urinary tract
    Type disease
    Gene product
    Name fibrocystin
    Mechanism(s)
    Gene mutationChromosome rearrangementEffectComments
    missense     milder phenotype
    various types   truncated protein severe form with early death
    Remark(s) . mitotic defects due to PKHD1 dysfunction contribute to cystogenesis in ARPKD (PMID: 20554582))
    Genotype/Phenotype correlations
  • one missense mutation is indispensable for survival of newborns (no survival with 2 truncating mutations)
  • missense substitutions are more commonly associated with non-lethal presentations, whereas chain-terminating mutations are more commonly associated with neonatal death