nephrotic syndrome, type 2
MONDO:0010974Mondo
Findings
No curated finding names nephrotic syndrome, type 2 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Any nephrotic syndrome in which the cause of the disease is a mutation in the NPHS2 gene.
Definition from the Mondo Disease Ontology (MONDO:0010974), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Rapidly progressive · Childhood onset
HPO, annotations 2026-09-02
Features
4 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Nephrotic syndromeHPOHP:0000100
- 9 of 9 reported patients
- ProteinuriaHPOHP:0000093
- 9 of 9 reported patients
- Stage 5 chronic kidney diseaseHPOHP:0003774
- 7 of 9 reported patients
- Focal segmental glomerulosclerosisHPOHP:0000097
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- NPHS2HGNC:13394
- Definitive · Illumina · Autosomal recessive · 2019
- Definitive · Myriad Women's Health · Autosomal recessive · 2018
- Definitive · G2P · Autosomal recessive · 2015
- Definitive · Natera · Autosomal recessive · 2023
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2022
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Limited · Ambry Genetics · Autosomal dominant · 2023
Where it sits
Other names
2 names
Resolves to: nephrotic syndrome, type 2
- Also called
- nephrotic syndrome caused by mutation in NPHS2NPHS2 nephrotic syndrome