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GENATLAS PHENOTYPE
last update : 17-06-2014
Symbol NPHP18
Location 12q22
Name nephronophthisis 18
Corresponding gene CEP83
Main clinical features
  • chronic tubulointerstitial nephritis that generally progresses to end-stage renal disease (ESRD) in childhood, with intellectual disability
  • progressive insidious polyuria due to reduced urinary concentrating ability preceding the decline of renal function and associated with an irregularly thickened tubular basement membrane (TBM), focal interstitial fibrosis, later diffuse tubular-intersitial changes and medullary cystis
  • including (1) infantile form, with ESRD appearing before 5 years, (2) the juvenile form (mean age of onset 13 years), and (3) the young adult form
  • fibroblasts and tubular renal cells from affected individuals exhibit ciliogenesis defects probably resulting from an altered assembly of mother centriole called distal appendages (DAPs)., which would affect docking of altered mother centriole to the ciliary primary vesicle
  • Genetic determination autosomal recessive
    Function/system disorder kidney and urinary tract
    mental retardation
    neurology
    Type disease
    Remark(s)
  • most of the mutations result in amino acid alteration in coiled-coil domains except for the p.Pro112_Leu117del variant (PMID: 24882706))