Table 1.

Genes associated with SRNS

GeneProteinDisease Association
ACTN4α-Actinin 4Familial and sporadic SRNS (adult)
ALG1Asparagine-linked glycosylation 1Congenital disorder of glycosylation
APOL1Apolipoprotein L1Increased susceptibility to FSGS
CD2APCD2-associated proteinFSGS/SRNS
COL4A3Collagen, type IV, α3Alport’s disease
COL4A4Collagen, type IV, α4Alport’s disease
COL4A5Collagen, type IV, α5Alport’s disease
COQ2Coenzyme Q2 homologMitochondrial disease/isolated nephropathy
INF2Inverted Formin-2Familial and sporadic SRNS
LAMB2Laminin, β2Pierson syndrome
LMX1BLIM homeobox transcription factor 1βNail patella syndrome
MHY9Nonmuscle myosin heavy chain 9MYH9-­related disease
MYO1EMyosin IEFamilial SRNS
NPHS1NephrinCongenital nephrotic syndrome/SRNS
NPHS2PodocinCongenital nephrotic syndrome/SRNS
PDSS2Prenyl (decaprenyl) diphosphate synthase, subunit 2Leigh syndrome
PLCe1Phospholipase C, ε1Congenital nephrotic syndrome/SRNS
PMM2Phosphomannomutase 2Congenital disorder of glycosylation
PTPROProtein tyrosine phosphatase, receptor type, OFamilial SRNS
SCARB2Scavenger receptor class B member 2Action myoclonus renal failure syndrome
SMARCAL1SWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily A-like protein 1Schimke immuno-osseous dysplasia
TRPC6Transient receptor potential cation channel, subfamily C, member 6Familial and sporadic SRNS (adult)
WT1Wilms tumor 1Sporadic SRNS (children—may be associated with abnormal genitalia)
ZMPSTE24Zinc metallopeptidase STE24 homologMandibuloacral 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.