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Focal segmental glomerulosclerosis

From SNPedia

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