Version July 2025
| Gene | Inheritance | Kidney histology | Age at onset of proteinuria | Associated clinical features | MIM number |
| PAX2 | AD | FSGS (due to nephron reduction) | 7 to 68 years | May include renal hypoplasia and optic nerve coloboma | #616002 |
| WT1* | AD | DMS | Denys-Drash syndrome – Early nephrotic syndrome with diffuse mesangial sclerosis; 46,XY children have gonadal dysgenesis and variations of sex development (eg, undervirilized external genitalia), high risk of Wilms tumor, gonadoblastoma | #194080 | |
| AD | FSGS | Frasier syndrome – Early nephrotic syndrome; 46,XY children have gonadal dysgenesis, undervirilized external genitalia, and increased risk of gonadoblastoma | #136680 | ||
| AD | Nephrotic syndrome – FSGS | #256370 | |||
| LAMB2* | AR | DMS | 0 to 6 years | Pierson syndrome – Congenital nephrotic syndrome, DMS, microcoria and buphthalmos, severe neurodevelopmental delay | #614199 |
| LMX1B | AD | FSGS | 10 to 70 years | Nail-patella syndrome – Absent or displaced patella, absent or pitted nails, small nails, hematuria, proteinuria, nephrotic syndrome in 10 to 15% (SRNS) | #256020 |
| SMARCAL1 | AR | FSGS | 2 to 12 years | Schimke immuno-osseous dysplasia – Short stature, spondyloepiphyseal dysplasia, SRNS, kidney failure, T-cell immunodeficiency, lentigines, abnormal dentition, thin hair, corneal opacities, arteriosclerosis, headache, cerebral infarcts | #242900 |
| SCARB2 | AR | FSGS | Action myoclonus-renal failure syndrome – FSGS, kidney failure, fine tremor, progressive myoclonus epilepsy | #254900 | |
| WDR73 | AR | FSGS (collapsing) or DMS | 5 to 15 years | Galloway-Mowat syndrome – Microcephaly, gyral abnormalities (polymicrogyria), hypotonia, seizures, developmental delay, hiatus hernia, kidney failure | #251300 |
| MYH9 | AD | FSGS | May-Hegglin anomaly – Giant platelets, thrombocytopenia Fechtner syndrome – Sensorineural deafness, cataracts, giant platelets, thrombocytopenia, kidney failure in 28% Epstein syndrome – Sensorineural deafness, giant platelets, thrombocytopenia, nephritis | #155100 | |
| ITGA3 | AR | FSGS | Interstitial lung disease, epidermolysis bullosa | #614748 | |
| ARHGDIA | DMS | Intellectual disability | #615244 | ||
| SGPL1 | FSGS | RENI syndrome – Primary adrenal insufficiency, cryptorchidism, hypothyroidism, neurologic symptoms | #617575 | ||
| INF2 | AD | FSGS | 10 to 45 years | Charcot-Marie-Tooth disease – Neuropathy and deafness | #614455 |
| CRB2 | AR | FSGS | 9 months to 6 years | Kidney microcysts and cerebral ventriculomegaly | #616220 |
| MAGI2* | AD | FSGS | 0 to 4 years[1,2] | Congenital nephrotic syndrome | #617609 |
| Mitochondrial podocytopathies | |||||
| COQ8B | AR | FSGS (collapsing) | CoQ10 deficiency | #615573 | |
| COQ6 | AR | FSGS or DMS | Seizures and sensorineural deafness | #614650 | |
| COQ2 | AR | FSGS | 0 to 2 years | Seizures, hypotonia, lactic acidosis, encephalomyopathy | #607426 |
| PDSS2 | AR | Kidney histology not described | Seizures, hypotonia, lactic acidosis, encephalomyopathy | #614652 | |
| MTTL1 | Mitochondrial | FSGS | 0 to 6 years | MELAS syndrome – Myopathy, encephalopathy, lactic acidosis, stroke-like episodes Some individuals have diabetes and deafness Patients with variants in MTTL1 do not respond to CoQ10 enzyme supplements | #540000 |
AD: autosomal dominant; AR: autosomal recessive; CoQ10: coenzyme Q10; DMS: diffuse mesangial sclerosis; FSGS: focal segmental glomerulosclerosis; MIM: Mendelian Inheritance in Man; RENI: renal, endocrine, neurologic, and immune; SRNS: steroid-resistant nephrotic syndrome.
* Variants in these genes may be associated with congenital nephrotic syndrome.
