nephrotic syndrome, type 10
Findings
No curated finding names nephrotic syndrome, type 10 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 EMP2 gene.
Definition from the Mondo Disease Ontology (MONDO:0014373), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
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.
- Minimal change glomerulonephritisHPOHP:0012579
- 1 of 1 reported patient · Childhood onset
- Nephrotic syndromeHPOHP:0000100
- 4 of 4 reported patients · Childhood onset
- Steroid-resistant nephrotic syndromeHPOHP:0012588
- 1 of 4 reported patients · Childhood onset
- Podocyte foot process effacementHPOHP:0031266
- Childhood onset
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.
- EMP2HGNC:3334
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2018
- Moderate · PanelApp Australia · Autosomal recessive · 2025
- Limited · Ambry Genetics · Autosomal recessive · 2019
Where it sits
Other names
2 names
Resolves to: nephrotic syndrome, type 10
- Also called
- EMP2 nephrotic syndromenephrotic syndrome caused by mutation in EMP2