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nephrotic syndrome, type 2

Disease Summary
Associated Targets (1)
Tbio

1


GARD Rare
Mondo Description Any nephrotic syndrome in which the cause of the disease is a mutation in the NPHS2 gene.
Uniprot Description A form of nephrotic syndrome, a renal disease clinically characterized by severe proteinuria, resulting in complications such as hypoalbuminemia, hyperlipidemia and edema. Kidney biopsies show non-specific histologic changes such as focal segmental glomerulosclerosis and diffuse mesangial proliferation. The disorder is resistant to steroid treatment and progresses to end-stage renal failure in the first or second decades. Some patients show later onset of the disorder.
Mondo Term and Equivalent IDs
MONDO:0010974:  nephrotic syndrome, type 2
GARD:0003946: