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GENATLAS PHENOTYPE
last update : 23-12-2013
Symbol NPHS3
Location 10q23.33
Name childhood nephrotic syndrome 3
Corresponding gene PLCE1
Main clinical features
  • nephrotic syndrome, steroid responsiveness
  • severe form of isolated nephrotic syndrome with rapid progression to terminal renal failure, caused by a developmental rather than structural podocyte dysfunction and major cause of diffuse mesangial sclerosis
  • also cases with focal segmental glomerulosclerosis (FSGS) and later nephrotic syndrome
  • Genetic determination autosomal recessive
    Function/system disorder kidney and urinary tract
    Type disease
    Remark(s)