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References OMIM Gene GeneReviews HGMD HGNC
last update : 06-12-2017
Symbol NPHS12
Location 16q13
Name nephrotic syndrome, type 12
Corresponding gene NUP93
Main clinical features
  • renal disorder caused by defects in the renal glomerular filter; affected individuals have onset of progressive renal failure in the first years of life
  • renal biopsy typically shows focal segmental glomerulosclerosis (FSGS)
  • steroid-resistant nephrotic syndrome; age at onset ranged from 1 to 6 years and end-stage kidney disease became apparent between 1 and 11 years
  • Genetic determination autosomal recessive
    Function/system disorder kidney and urinary tract
    Type disease