Table 9.

Genes associated with nephrotic syndrome

Gene	Inheritance	Characteristic signs and features
NPHS1	AR	CNS/NS
NPHS2	AR	CNS,NS - childhood and adult onset
CD2AP	?	Early-onset NS
PLCe1	AR	Early-onset NS
TRPC6	AD	Adult onset NS
PTPRO	AR	Childhood-onset NS
WT1	Sporadic; AD	Adult onset NS, Denys-Drash and Fraiser Syndromes
LMX1B	AR	Nail-Patella Syndrome/NS only
SMARCALI	AR	Schimke immuno-osseous dysplasia
E2F3	Chromosomal deletion	Early-onset NS and mental retardation
NXF5	X-linked recessive	NS with co-segregating heart block disorder
PAX2	AD	Adult onset NS
ACTN4	AD	Adult onset NS
MYH9	Risk allele	Adult onset NS
INF2	AD	Familial/sporadic NS
SYNPO	?	Adult onset NS
APOLI	Complex/AR	Adult onset NS
MYO1E	AR	Early or Adult onset NS
ARHGAP24	AD	Adult onset NS
ARHGDIA	AR	CNS
ANLN	AD	Adult onset NS
EMP2	AR	Childhood-onset NS
CUBN	AR	Intermittent nephritic range proteinuria and epilepsy
GPC5	Risk allele	Adult onset NS
PODXL	AD	Early or Adult onset NS
TTC21B	AR	NS with tubulointerstitial involvement
CLTA4	Risk allele	Sporadic NS
MTTL1	?	MELAS syndrome; NS+/− deafness and diabetes
tRNAlle	?	Deafness, NS, epilepsy, and dilated cardiomyopathy
tRNAAsn	?	Multiorgan failure and NS
tRNATyr	?	Mitochondrial cytopathy and NS
COQ2	AR	Mitochondrial disease/isolated nephropathy
COQ6	AR	NS with sensorineural deafness
ZMPSTE24	AR	Mandibulosacral dysplasia with NS
ADCK4	AR	NS
CYP11B2	Risk allele	NS, IgA nephropathy
LAMB2	AR	Pierson S.; CNS with ocular abnormalities; isolated early-onset NS
ITGB4	AR	NEP syndrome-NS, epidermolysis bullosa and pulmonary disease
ITGA3	AR	Epidermolysis bullosa and pyloric atresia + NS
LMNA	AD	Famlial partial lipodystrophy + NS
CD151	AR	NS, pretibilial bullous skin lesions, neurosensory deafness, bilateral lacrimal duct stenosis, nail dystrophy, thalassemia minor

AR autosomal recessive, AD autosomal dominant, CNS congenital nephrotic syndrome, NS nephrotic syndrome