Disease ID | Source | Name | Description |
614131 | OMIM | Focal segmental glomerulosclerosis 6 (FSGS6) | A renal pathology defined by the presence of segmental sclerosis in glomeruli and resulting in proteinuria, reduced glomerular filtration rate and progressive decline in renal function. Renal insufficiency often progresses to end-stage renal disease, a highly morbid state requiring either dialysis therapy or kidney transplantation. FSGS6 is a childhood-onset disorder resulting in nephrotic syndrome, which includes massive proteinuria, hypoalbuminemia, hyperlipidemia, and edema. The disease is caused by variants affecting the gene represented in this entry. |