The nephrotic syndrome is characterized clinically by proteinuria, hypoalbuminemia, hyperlipidemia, and edema. Kidney biopsies show nonspecific histologic changes such as minimal change, focal segmental glomerulosclerosis (FSGS), and diffuse mesangial proliferation. Approximately 20% of affected individuals have an inherited steroid-resistant form and progress to end-stage renal failure (summary by Fuchshuber et al., 1996, pubmed:8606597). [From MIM:256300, 2016.06.13]

Nephrotic syndrome type 2 (NPHS2) is characterized clinically by childhood onset of proteinuria, hypoalbuminemia, hyperlipidemia, and edema. The disorder is resistant to steroid treatment and progresses to end-stage renal failure in the first or second decade (summary by Fuchshuber et al., 1996; pubmed:8606597). Some variants show later onset of the disorder (Tsukaguchi et al., 2002; pubmed:12464671). [from MIM:600995; 2017.06.07]

Nephrotic syndrome type 2 (NPHS2), can be caused by homozygous or compound heterozygous mutation in the gene encoding podocin (NPHS2) [from MIM:600995; 2017.06.07]

The NPHS2 gene encodes podocin, an integral membrane protein that is expressed at the insertion of the slit diaphragm in the renal glomerulus. Podocytes are specialized epithelial cells covering the basement membrane of the renal glomerulus, and they mediate glomerular filtration through the slit diaphragm. Podocin is thus crucial in the establishment of the glomerular filtration barrier (Roselli et al., 2004; pubmed:14701729). [from MIM:604766; 2017.06.07]

Many to many; human genes in this family include NPHS2, STOML3, STOM, STOML1, and STOML2.