Home Page
References OMIM Gene GeneReviews HGMD HGNC
GENATLAS PHENOTYPE
last update : 01-10-2013
Symbol NPHS6
Location 12p12.3
Name nephrotic syndrome type 6
Corresponding gene PTPRO
Main clinical features
  • characterized by proteinuria, hypoalbuminemia, and edema, resulting in end-stage kidney disease if untreated
  • electron microscopy showed diffuse foot process effacement and widespread attenuation of the glomerular basement membranes without thickening
  • Genetic determination autosomal recessive
    Function/system disorder kidney and urinary tract
    Type disease
    Remark(s)