Gene product or protein | Renal histology | Additional notes or associated extrarenal features | OMIM number* | |
Autosomal recessive | ||||
NPHS1 | Nephrin | FSGS | #256300/ #603278 | |
NPHS2 | Podocin | FSGS | #600995 | |
PLCE1 | Phospholipase C, epsilon1 | FSGS or DMS | #610725 | |
CD2AP | CD2-associated protein | FSGS | #607832 | |
PTPRO | Protein-tyrosine phosphatase receptor-type O (or glomerular epithelial protein 1/GLEPP1) | FSGS | #614196 | |
MYO1E | Myosin 1E | FSGS | #614131 | |
TTC21B | Intraflagellar transport protein 139 | FSGS | Ciliary gene | #612014 |
CRB2 | Crumbs homolog 2 protein | FSGS, congenital nephrotic syndrome | Renal microcysts and cerebral ventriculomegaly | #616220 |
CUBN | Cubilin | Renal histology not described | Might be associated with megaloblastic anaemia as cubilin facilitates intestinal absorption of the vitamin B12 or intrinsic factor complex | #602997 |
NEIL1 | Endonuclease VIII-like 1 | FSGS | #608844 | |
NUP107 | Nucleoporin 107 kDa | FSGS | #607617 | |
NUP93, NUP205 XP05 | Nuclear pore protein 93, nuclear pore protein 205 (interacts with NUP93) and nuclear export protein exportin 5 (also interacts with nucleoporins) | FSGS or DMS | Nucleoporins mediate transport of proteins or RNA from cell cytoplasm to nucleus SRNS with ESRD in childhood Might have partial response to cyclosporine | #614351/ #614352/ #607845 |
Autosomal dominant | ||||
ACTN4 | Actinin-alpha4 | FSGS | #603278 | |
TRPC6 | Transient receptor potential cation channel, subfamily C, member 6 | FSGS | ||
INF2 | Inverted formin 2 | FSGS | Charcot-Marie-Tooth neuropathy and deafness | #613237 |
ARHGAP24 | Rho-GTPase-activating protein 24 | FSGS | #610586 | |
ANLN | Anillin | FSGS | Childhood or adult onset | #616032 |
PAX2 | Paired box protein 2 | FSGS | Adult onset and no overt extrarenal involvement | |
Syndromic forms of nephrotic syndrome | ||||
WT1 (AD) | Wilms tumor protein | Denys-Drash syndrome: DMS Frasier syndrome: FSGS | Denys-Drash syndrome: nephrotic syndrome, renal failure, Wilms Tumor risk 90% Frasier syndrome: childhood SRNS, ambiguous genitalia (male pseudohermaphroditism), FSGS, amenorrhoea, streak gonads and increased risk of gonadoblastoma, 46XY karyotype | #256370 |
LAMB2 (AR) | Laminin subunit beta2 | DMS | Pierson syndrome: congenital nephrotic syndrome, DMS, microcoria and buphthalmos, severe neurodevelopmental delay | #609049 |
LMX1B (AD) | LIM homeobox transcription factor 1-beta | FSGS | Nail-patella syndrome: absent or displaced patella, absent or pitted nails, small nails, renal tubular defects, renal dysplasia, haematuria, proteinuria, nephrotic syndrome in 10 to 15% (frequently relapsing steroid responsive) | #614199 |
SMARCAL1 (AR) | Swi/Snf-related matrix-associated actin-dependent regulator of chromatin subfamily a-like protein | FSGS | Schimke immuno-osseous dysplasia: short stature, spondyloepiphyseal dysplasia, SRNS, renal insufficiency, and T-cell immunodeficiency, hypothyroidism, abnormal dentition, bone marrow failure, thin hair, corneal opacities, arteriosclerosis, headache | #242900 |
SCARB2 (AR) | Scavenger receptor class b member 2 | FSGS | Action myoclonus-renal failure syndrome: FSGS, renal failure, fine tremor, progressive myoclonus epilepsy | #254900 |
WDR73 (AR) | WD repeat containing protein 73 | FSGS (collapsing) or DMS | Galloway-Mowat syndrome: Microcephaly, gyral abnormalities (polymicrogyria), hypotonia, seizures, developmental delay, hiatus hernia, rapidly progresses to ESRD | #251300 |
MYH9 (AD) | Non-muscle myosin heavy chain IIA | FSGS | May-Hegglin: giant platelets, thrombocytopenia Fechtner: sensorineural deafness, cataracts, giant platelets, thrombocytopenia, ESRD in 28% Epstein: sensorineural deafness, giant platelets, thrombocytopenia, nephritis | #612551 |
ITGA3 (AR) | Integrin alpha3 subunit | FSGS, congenital nephrotic syndrome | Interstitial lung disease and epidermolysis bullosa | #614748 |
ARHGDIA | Rho-GDP dissociation inhibitor alpha | Congenital or infantile NS, DMS | Intellectual disability | #615244 |
INF2 | Inverted formin 2 | FSGS | Charcot-Marie-Tooth neuropathy and deafness | #613237 |
Mitochondrial podocytopathies | ||||
ADCK | aarF domain containing kinase 4 | FSGS (collapsing) | CoQ10 deficiency, autosomal recessive | #615573 |
COQ6 | Coenzyme Q10 biosynthesis mono-oxygenase 6 | FSGS or DMS | Seizures and sensorineural deafness | #614650 |
COQ2 | Coenzyme Q10 biosynthesis mono-oxygenase 2 | FSGS | Seizures, hypotonia, lactic acidosis, encephalomyopathy | #609825 |
MTTL1 | Mitochondrial tRNALeu(UUR) | FSGS | MELAS: myopathy, encephalopathy, lactic acidosis, stroke-like episode Diabetes and deafness | #590050 |
PDSS2 | Decaprenyl-diphosphate synthase subunit 2 | Renal histology not described | Leigh syndrome: growth retardation, ataxia, deafness | #614652 |