Disease ID | Source | Name | Description |
615244 | OMIM | Nephrotic syndrome 8 (NPHS8) | A form of nephrotic syndrome, a renal disease clinically characterized by progressive renal failure, severe proteinuria, hypoalbuminemia, hyperlipidemia and edema. Kidney biopsies show diffuse mesangial sclerosis, with small glomeruli, hypercellularity, increased extracellular matrix, and contracted/collapsed glomerular tufts surrounded by immature or abnormal podocytes. The disease is caused by variants affecting the gene represented in this entry. |