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GENATLAS PHENOTYPE
last update : 20-03-2019
Symbol SRN7
Location Xq22.3
Name steroid-resistant nephrotic syndrome 7
Corresponding gene TBC1D8B
Main clinical features
  • X-linked podocytopathy
  • early-onset steroid-resistant nephrotic syndrome with focal and segmental glomerulosclerosis
  • leading to end-stage renal disease (ESRD) in childhood or young adulthood
  • Genetic determination sex linked
    Function/system disorder kidney and urinary tract
    Type disease
    Mechanism(s)
    Gene mutationChromosome rearrangementEffectComments
    missense   abnormal protein/loss of function  
    Remark(s)