Focal segmental glomerulosclerosis
Focal segmental glomerulosclerosis (FSGS) is a cause of nephrotic syndrome in children and adolescents, as well as an important cause of kidney failure in adults, accounting for about a sixth of the cases of nephrotic syndrome (NPHS).Wikipedia
Because NPHS and FSGS represent a wide spectrum of hereditary renal diseases of the podocyte, and due to the use of both terms in somewhat confusing ways over time in the medical literature, assignment of mutations to phenotypes can be problematic. In general, SNPedia follows the guidelines used by ClinVar and OMIM, based on how they were first designated in the literature. Based on this, a list of genes with SNPs associated with NPHS can be found on the nephrotic syndrome page; a list of genes associated with FSGS follows on this page.
| Category | Full Name | Gene | Usual Inheritance Mode |
|---|---|---|---|
| FSGS1 | Focal segmental glomerulosclerosis 1 | ACTN4 | dominant |
| FSGS2 | Focal segmental glomerulosclerosis 2 | TRPC6 | dominant |
| FSGS3 | Focal segmental glomerulosclerosis 3 | CD2AP | dominant (haploinsufficiency) |
| FSGS4 | Focal segmental glomerulosclerosis 4 | APOL1 | recessive |
| FSGS5 | Focal segmental glomerulosclerosis 5 | INF2 | dominant |
| FSGS6 | Focal segmental glomerulosclerosis 6 | MYO1E | recessive |
| FSGS7 | Focal segmental glomerulosclerosis 7 | PAX2 | dominant |
| FSGS8 | Focal segmental glomerulosclerosis 8 | ANLN | dominant |
| FSGS9 | Focal segmental glomerulosclerosis 9 | CRB2 | recessive |
