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nephrotic syndrome, type 4

Disease Summary
Associated Targets (1)
Tbio

1


GARD Rare
Mondo Description Nephrotic syndrome within the first three motnhs of life, characterized initially by increased mesangial matrix, with or without hypertrophy and hyperplasia of podocytes, and eventual glomerular sclerosis.
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. Some affected individuals have an inherited steroid-resistant form and progress to end-stage renal failure. Most patients with NPHS4 show diffuse mesangial sclerosis on renal biopsy, which is a pathologic entity characterized by mesangial matrix expansion with no mesangial hypercellularity, hypertrophy of the podocytes, vacuolized podocytes, thickened basement membranes, and diminished patency of the capillary lumen.
Disease Ontology Description A familial nephrotic syndrome that has_material_basis_in heterozygous mutation in the WT1 gene on chromosome 11p13.
Mondo Term and Equivalent IDs
MONDO:0009733:  nephrotic syndrome, type 4
GARD:0003547: 
NCIT:C121198: