nephrotic syndrome, type 12
MONDO:0014817Mondo
Findings
No curated finding names nephrotic syndrome, type 12 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Any familial nephrotic syndrome in which the cause of the disease is a mutation in the NUP93 gene.
Definition from the Mondo Disease Ontology (MONDO:0014817), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
HPO, annotations 2026-09-02
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.
- NUP93HGNC:28958
- Definitive · ClinGen · Autosomal recessive · 2022
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2023
- Strong · Laboratory for Molecular Medicine · Autosomal recessive · 2020
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Moderate · Ambry Genetics · Autosomal recessive · 2022
Where it sits
Other names
4 names
Resolves to: nephrotic syndrome, type 12
- Also called
- familial nephrotic syndrome caused by mutation in NUP93nephrotic syndrome, type 12; NPHS12NPHS12NUP93 familial nephrotic syndrome