nephrotic syndrome
Findings
No curated finding names nephrotic syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
A collection of symptoms that include severe edema, proteinuria, and hypoalbuminemia; it is indicative of renal dysfunction.
Definition from the Mondo Disease Ontology (MONDO:0005377), read 2026-09-29. CC BY 4.0.
Features
3 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, hp/releases/2026-09-01.
- EdemaMondoHP:0000969
- HypoalbuminemiaMondoHP:0003073
- ProteinuriaMondoHP:0000093
Genes
8 genes
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.
- DLC1HGNC:2897
- Strong · PanelApp Australia · Autosomal recessive · 2025
- ITSN1HGNC:6183
- Strong · PanelApp Australia · Autosomal recessive · 2025
- ITSN2HGNC:6184
- Strong · PanelApp Australia · Autosomal recessive · 2025
- PODXLHGNC:9171
- Strong · PanelApp Australia · Autosomal dominant · 2025
- Limited · PanelApp Australia · Autosomal recessive · 2025
- TNS2HGNC:19737
- Strong · PanelApp Australia · Autosomal recessive · 2025
Where it sits
- A kind of
Other names
3 names
Resolves to: nephrotic syndrome
- Also called
- nephrotic syndromessyndrome, nephroticsyndromes, nephrotic