nephrotic syndrome, type 19
MONDO:0032582Mondo
Findings
No curated finding names nephrotic syndrome, type 19 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Juvenile onset · Progressive
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.
- ProteinuriaHPOHP:0000093
- 2 of 2 reported patients
- Focal segmental glomerulosclerosisHPOHP:0000097
- 1 of 2 reported patients
- Stage 3 chronic kidney diseaseHPOHP:0012625
- 1 of 2 reported patients
- Steroid-resistant nephrotic syndromeHPOHP:0012588
- 1 of 2 reported patients
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.
- NUP160HGNC:18017
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2019
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Moderate · ClinGen · Autosomal recessive · 2024
- Limited · Ambry Genetics · Autosomal recessive · 2022
Where it sits
- A kind of