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GENATLAS PHENOTYPE
last update : 23-12-2013
Symbol SRN1
Location 1q25.2
Name steroid-resistant nephrotic syndrome 1
Other name(s)
  • steroid-resistant focal segmental glomerulosclerosis
  • nephrotic syndrome, type 2
  • Corresponding gene NPHS2
    Other symbol(s) FSGS, NPHS2
    Main clinical features
  • focal segmental glomerulosclerosis or diffuse mesangial proliferation, characterized to early chilhood onset of proteinuria, rapid progression to end-stage renal disease, with absence of recurrence after renal transplantation and absence of extra-renal signs
  • Genetic determination autosomal recessive
    Related entries including adolescent onset familial focal segment glomerulosclerosis
    Function/system disorder kidney and urinary tract
    Type disease
    Remark(s)
  • mutations nonsense, frameshift, or homozygous R138Q manifested symptoms at a significantly earlier age (mean onset <1.75 years) than any other patient group (Hinkes 2008)
  • Genotype/Phenotype correlations