Table 2. Genetic causes of important syndromic nephrotic syndrome.
| Gene | Protein | Inheritance | Phenotypes | Renal pathology |
|---|---|---|---|---|
| WT1 | Wilms’ tumor protein | AD | Denys-Drash syndrome | DMS |
| AD | Frasier syndrome, | FSGS | ||
| AD | WAGR syndrome | |||
| AR | SRNS (NPHS4) | DMS, FSGS | ||
| LAMB2 | laminin subunit β2 | AR | Pierson syndrome | DMS |
| NPHS5 | FSGS | |||
| LMX1B | LIM homeobox transcription factor 1 | AD | Nail-patella syndrome | FSGS |
| Microalbuminuria, NS | ||||
| MYH9 | myosin, heavy chain 9 | AD | Macrothrombocytopenia with sensorineural deafness | FSGS |
| Epstein syndrome | ||||
| Sebastian syndrome | ||||
| Fechtner syndrome | ||||
| SCARB2 | Scavenger receptor class B, member 2 (LIMP II) | AR | Action myoclonus-renal failure syndrome | FSGS |
| lysosomal storage disease | Collapsing glomerulopathy | |||
| MTTL1 | Mitochondrially encoded tRNA leucine 1 (UUA/G) | Maternal | MELAS syndrome | FSGS |
| Mitochondrial diabetes deafness with FSGS | ||||
| PDSS2 | decaprenyl-diphosphate synthase subunit 2 | AR | Leigh syndrome | FSGS |
| CoQ10 deficiency | ||||
| SRNS | ||||
| WDR73 | WD repeat domain 73 | AR | Galloway-Mowat syndrome | FSGS or DMS |
| SRNS | ||||
| SMARCAL1 | HepA-related protein | AR | Schimke immuno-osseous dysplasia | FSGS |
| Early-onset SRNS/ESRD | ||||
| PAX2 | Paired box gene 2 | AD | Renal coloboma syndrome | FSGS |
| Adult-onset FSGS (FSGS7) |
AD, autosomal-dominant; AR, autosomal-recessive; CoQ10, coenzyme Q10; DMS, diffuse mesangial sclerosis; ESRD, end-stage renal disease; FSGS, focal segmental glomerulosclerosis; LAMB2, laminin beta 2; LIMP2, lysosome membrane protein 2; LMX1B, LIM homeobox transcription factor 1 beta; MELAS syndrome, mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes; MTTL1, mitochondrially encoded tRNA leucine 1 (UUA/G); MYH9, myosin heavy chain 9, non-muscle; MYO1E, Homo sapiens myosin IE; PDSS2 prenyl (solanesyl) diphosphate synthase, subunit 2; SCARB2 scavenger receptor class B, member 2; SMARCAL: SWI/SNF related, matrix associated, actin-dependent regulator of chromatin, subfamily a-like 1; SRNS, steroid-resistant nephrotic syndrome; WAGR syndrome, Wilms' tumor, aniridia, genitourinary anomalies and mental retardation syndrome; WDR73, WD repeat domain 73; WT1, Wilms' tumor 1; AD, autosomal-dominant; AR, autosomal-recessive; NS nephrotic syndrome.