Table 2.
Genetic causes of FSGS
| Isolated NS | Isolated or syndromic NS | Syndromic NS | ||
|---|---|---|---|---|
| Autosomal recessive | ||||
| NPHS1 | CRB2 | (Ventriculomegaly) | PDSS2 | (Encephalomyopathy) |
| NPHS2 | COQ2 | (Encephalopathy) | MTTL1 | (MELAS syndrome) |
| NPHS3 | COQ6 | (Deafness) | SCARB2 | (Epilepsy) |
| CD2AP | ADCK4 | (Seizure) | SMARCAL1 | (Schimke immunoosseous dysplasia) |
| PTPRO | LAMB2 | (Pierson syndrome) | ITGB4 | (Junctional epidermolysis bullosa), (pyloric atresia) |
| MYOIE | COL4A3 | (Alport syndrome) | CD151 | (Pretibial epidermolysis bullosa), (deafness) |
| EMP2 | COL4A4 | (Alport syndrome) | ZMPSTE24 | (Mandibuloacral dysplasia) |
| FAT1 | CFH | (aHUS/C3 Glomerulopathy) | ITGA3 | (Interstitial lung disease), (epidermolysis bullosa) |
| ARHGDIA | CUBN | (Anemia) | WDR73 | (Galloway–Mowat syndrome) |
| KANK1 | SGPL1 | (Hypogonadism), (adrenal insufficiency) | ||
| KANK2 | LMNA | (Lipodystrophy) | ||
| KANK4 | ||||
| TTC21B | ||||
| NUP93 | ||||
| NUP107 | ||||
| NUP205 | ||||
| XPOS | ||||
| MAGI2 | ||||
| Autosomal dominant | ||||
| ACTN4 | WT1 | (Wilms tumor), (hermaphroditism), (genital anomalies) | MYH9 | (Epstein syndrome) |
| ANLN | LMX1B | (Nail–patella syndrome) | ||
| ARHGAP24 | INF2 | (Charcot–Marie–Tooth disease) | ||
| TRPC6 | PAX2 | (Renal coloboma syndrome) | ||
| X-linked | ||||
| COL4A5 | (Alport syndrome) | GLA | (Fabry disease) | |
Note that genes can be divided both by mode of inheritance, and by presence or absence of extrarenal manifestations. Several genes have been identified to cause both isolated FSGS in which mutations are associated with manifestations only in kidney or syndromic FSGS in which mutations are also associated with extrarenal manifestations