Idiopathic nephrotic syndrome: genes and variants
Idiopathic nephrotic syndrome is linked to 1 analyzed protein (NPHS2). 5 DNA variants are known to cause it; 0 more are uncertain, and 0 of those already look disease-causing on computable evidence.
Last updated 2026-09-30. Research information, not medical advice.
Genes linked to Idiopathic nephrotic syndrome
NPHS2: Podocin
It organizes nephrin-containing slit-diaphragm complexes in podocytes and helps maintain the glomerular filtration barrier. Biallelic pathogenic variants are a major cause of steroid-resistant nephrotic syndrome and focal segmental glomerulosclerosis.
5 disease-causing and 0 uncertain variants in NPHS2 are linked to Idiopathic nephrotic syndrome.
Known disease-causing variants in Idiopathic nephrotic syndrome
| Variant | Position | Protein part | Clinical label |
|---|---|---|---|
| NPHS2 L169P | 169 | Cytoplasmic | Disease-causing (★★) |
| NPHS2 R238S | 238 | Cytoplasmic | Disease-causing (★★) |
| NPHS2 A284V | 284 | Cytoplasmic | Disease-causing (★★) |
| NPHS2 A297V | 297 | Cytoplasmic | Disease-causing (★★) |
| NPHS2 A213T | 213 | Cytoplasmic | Disease-causing (★) |
Same protein, different disease
- Nephrotic syndrome is also caused by NPHS2 variants; they fall mostly in different places as the Idiopathic nephrotic syndrome variants (30 disease-causing).
- Steroid-resistant nephrotic syndrome is also caused by NPHS2 variants; they fall mostly in different places as the Idiopathic nephrotic syndrome variants (8 disease-causing).
Diseases related to Idiopathic nephrotic syndrome
- Finnish congenital nephrotic syndrome, also linked to NPHS2
- Nephrotic syndrome, also linked to NPHS2
- Steroid-resistant nephrotic syndrome, also linked to NPHS2
- Focal segmental glomerulosclerosis, also linked to NPHS2
Frequently asked questions
Which genes are linked to Idiopathic nephrotic syndrome?
In CATVariant, Idiopathic nephrotic syndrome is linked to 1 analyzed protein: NPHS2 (Podocin).
How many genetic variants are linked to Idiopathic nephrotic syndrome?
8 variants: 5 are classified as disease-causing (pathogenic or likely pathogenic) in ClinVar and 0 are of uncertain significance or have conflicting reports.
Which uncertain variants in Idiopathic nephrotic syndrome look disease-causing?
None of the uncertain variants currently reaches the likely-pathogenic range on computable evidence alone.
About this data
Variant–disease links come from ClinVar, Open Targets and UniProt, pooled from the latest public CATVariant analysis of each human protein. Evidence scores use the ACMG/AMP Bayesian points scale with computable criteria only (position among known disease variants, rarity in gnomAD, calibrated predictors, deep mutational scanning); there is no family or patient data, so they prioritise variants for expert review and never classify them.
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