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GENATLAS PHENOTYPE
last update : 16/10/2008
Symbol GFND2
Location 2q35
Name glomerulopathy with fibronectin deposits 2
Corresponding gene FN1
Main clinical features
  • characterized by albuminuria, microscopic hematuria, hypertension, renal tubular acidosis type IV, located in the complement activator regulator gene cluster, leading to end-stage renal failure
  • at biopsy glomerular lesions characterized by subendothelial, transmembranous, and mesangial deposition of fibrillary structures visible by electron microscopy
    • Genetic determination autosomal dominant
    Function/system disorder kidney and urinary tract
    Type disease
    Mechanism(s)
    Gene mutationChromosome rearrangementEffectComments
    missense   abnormal protein/loss of function mutations affected two domains of FN1 (Hep-II and Hep-III domain)
    Remark(s)