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GENATLAS PHENOTYPE
last update : 18-12-2013
Symbol NPHS8
Location 17q25.3
Name nephrotic syndrome, type 8
Other name(s)
  • in the first weeks of life, severe proteinuria, hypoalbuminemia, and generalized edema
  • renal biopsy showed diffuse mesangial sclerosis, with small glomeruli, hypercellularity, increased extracellular matrix,
  • electron microscopy showed diffuse effacement of foot processes, thinning of the glomerular basement membrane, and swollen endothelial cells
  • Corresponding gene ARHGDIA
    Genetic determination autosomal recessive
    Function/system disorder kidney and urinary tract
    Type disease
    Remark(s)