| Disease ID | Source | Name | Description |
| 600995 | OMIM | Nephrotic syndrome 2 (NPHS2) | 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. The disease is caused by variants affecting the gene represented in this entry. |