Glomerulopathy with fibronectin deposits 2 - CISMeF
Glomerulopathy with fibronectin deposits 2OMIM Phenotype
Preferred Label : Glomerulopathy with fibronectin deposits 2;
Symbol : GFND2;
CISMeF acronym : GFND2;
Type : Phenotype, molecular basis known;
Alternative titles and symbols : Glomerular nephritis, familial, with fibronectin deposits; Fibronectin glomerulopathy;
Description : Glomerulopathy with fibronectin deposits is a genetically heterogeneous autosomal
dominant disorder characterized clinically by proteinuria, microscopic hematuria,
and hypertension that leads to end-stage renal failure in the second to fifth decade
of life. Pathologic examination shows enlarged glomeruli with mesangial and subendothelial
fibrillary deposits that show strong immunoreactivity to fibronectin (Castelletti
et al., 2008). For a discussion of genetic heterogeneity of GFND, see 137950.;
Inheritance : Autosomal dominant;
Molecular basis : Caused by mutation in the fibronectin 1 gene (FN1, 135600.0001);