Nephrin |
NPHS1 |
Congenital nephrotic syndrome of the Finnish type (CNF) |
Autosomal recessive (AR) |
Often massive proteinuria in utero and nephrotic syndrome postnatally; resistant to treatment |
25 |
Podocin |
NPHS2 |
Corticosteroid-resistant nephrotic syndrome (SRNS) |
AR |
Variable onset and severity of nephropathy; resistance to corticosteroid therapy |
29 |
Coenzyme Q10 biosynthesis mono-oxygenase 6 |
COQ6 |
Corticosteroid-resistant nephrotic syndrome (SRNS) |
AR |
Early-onset SNRS with sensorineural deafness |
110 |
PLCε1 |
PLCE1 |
Inherited nephrotic syndrome |
AR |
Nephrosis, diffuse mesangial sclerosis, and end-stage kidney disease (ESKD); may be reversible after early treatment |
109 |
Laminin β2 |
LAMB2 |
Pierson’s syndrome Occasionally oligosymptomatic disease variants |
AR |
Onset of nephrosis postnatally, mesangial sclerosis, microcoria |
116 |
α-Actinin-4 |
ACTN4 |
Focal segmental glomerulosclerosis (FSGS) |
Autosomal dominant (AD) |
Mild proteinuria in adolescence, slow progression to FSGS and ESKD in adulthood |
62 |
TRPC6 |
TRPC6 |
FSGS |
AD |
Proteinuria in adolescence and early adulthood; progression to FSGS and ESKD; pediatric/sporadic cases reported |
48, 100
|
MYH9 |
MYH9 |
Epstein syndrome Fechtner syndrome |
AD |
Thrombocytopenia, hearing defects, and progressive proteinuria |
126 |
LMX1B |
LMX1B |
Nail-patella syndrome |
AD |
Variable penetrance, nephrotic syndrome, and skeletal/nail abnormalities in children |
115, 196
|
WT1 |
WT1 |
Denys-Drash syndrome (DDS) Frasier’s syndrome (FS) |
AD |
Male pseudohermaphroditism with progressive nephropathy and ESKD; development of FSGS by 3 years (DDS) or later (FS) |
197, 198
|
CD2AP |
CD2AP |
Sporadic FSGS |
N/A |
FSGS in African-American patients |
111 |
Synaptopodin |
SYNPO |
Sporadic FSGS |
N/A |
FSGS in Chinese patients |
114 |
Myosin 1E |
MYO1E |
Childhood FSGS |
N/A |
Progressive, steroid-resistant FSGS |
117, 118
|
Apolipoprotein L-1 |
APOL1 |
Sporadic FSGS |
N/A |
Progressive proteinuria, FSGS, and ESKD in African-American patients |
127 |
Glypican 5 |
GPC5 |
Acquired nephrotic syndrome |
N/A |
Progressive proteinuria and ESKD |
128 |