nephrotic syndrome, type 11
Findings
No curated finding names nephrotic syndrome, type 11 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 NUP107 gene.
Definition from the Mondo Disease Ontology (MONDO:0014752), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
HPO, annotations 2026-09-02
Features
5 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.
- Focal segmental glomerulosclerosisHPOHP:0000097
- 8 of 10 reported patients
- HypoalbuminemiaHPOHP:0003073
- Nephrotic syndromeHPOHP:0000100
- ProteinuriaHPOHP:0000093
- Stage 5 chronic kidney diseaseHPOHP:0003774
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.
- NUP107HGNC:29914
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2018
- Moderate · Ambry Genetics · Autosomal recessive · 2015
Where it sits
Other names
4 names
Resolves to: nephrotic syndrome, type 11
- Also called
- familial nephrotic syndrome caused by mutation in NUP107nephrotic syndrome, type 11; NPHS11NPHS11NUP107 familial nephrotic syndrome