Table 9 Genes associated with nephrotic syndrome

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