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GENATLAS PHENOTYPE
last update : 13-09-2014
Symbol FSGS6
Location 15q22.2
Name glomerulosclerosis, focal segmental, 6
Corresponding gene MYO1E
Main clinical features
  • childhood-onset kidney disorder manifest clinically by the nephrotic syndrome, which is characterized by proteinuria, hematuria, hypoalbuminemia, and progressive renal failure
  • renal biopsy showed segmental or global sclerosis of glomeruli and focal tubular dilatation and atrophy with interstitial fibrosis
  • electron microscopy showed effacement of the foot processes, microvillus transformation of podocytes, focal thickening and disorganization of the glomerular basement membrane, and focal expansion of the mesangial matrix
  • Genetic determination autosomal recessive
    Function/system disorder kidney and urinary tract
    Type disease
    Remark(s)