Genes associated with SRNS
Gene | Protein | Disease Association |
---|---|---|
ACTN4 | α-Actinin 4 | Familial and sporadic SRNS (adult) |
ALG1 | Asparagine-linked glycosylation 1 | Congenital disorder of glycosylation |
APOL1 | Apolipoprotein L1 | Increased susceptibility to FSGS |
CD2AP | CD2-associated protein | FSGS/SRNS |
COL4A3 | Collagen, type IV, α3 | Alport’s disease |
COL4A4 | Collagen, type IV, α4 | Alport’s disease |
COL4A5 | Collagen, type IV, α5 | Alport’s disease |
COQ2 | Coenzyme Q2 homolog | Mitochondrial disease/isolated nephropathy |
INF2 | Inverted Formin-2 | Familial and sporadic SRNS |
LAMB2 | Laminin, β2 | Pierson syndrome |
LMX1B | LIM homeobox transcription factor 1β | Nail patella syndrome |
MHY9 | Nonmuscle myosin heavy chain 9 | MYH9-related disease |
MYO1E | Myosin IE | Familial SRNS |
NPHS1 | Nephrin | Congenital nephrotic syndrome/SRNS |
NPHS2 | Podocin | Congenital nephrotic syndrome/SRNS |
PDSS2 | Prenyl (decaprenyl) diphosphate synthase, subunit 2 | Leigh syndrome |
PLCe1 | Phospholipase C, ε1 | Congenital nephrotic syndrome/SRNS |
PMM2 | Phosphomannomutase 2 | Congenital disorder of glycosylation |
PTPRO | Protein tyrosine phosphatase, receptor type, O | Familial SRNS |
SCARB2 | Scavenger receptor class B member 2 | Action myoclonus renal failure syndrome |
SMARCAL1 | SWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily A-like protein 1 | Schimke immuno-osseous dysplasia |
TRPC6 | Transient receptor potential cation channel, subfamily C, member 6 | Familial and sporadic SRNS (adult) |
WT1 | Wilms tumor 1 | Sporadic SRNS (children—may be associated with abnormal genitalia) |
ZMPSTE24 | Zinc metallopeptidase STE24 homolog | Mandibuloacral dysplasia |
Twenty-four genes associated with steroid-resistant nephrotic syndrome (SNRS) of congenital, childhood, or adult onset, familial and sporadic origin, and different syndrome association. SW1/SNF, SWItch/Sucrose Non-Fermentable; MYH9, myosin heavy chain 9, non-muscle; LIM, LIN-11, Islet-1, and MEC-3.