nephrotic syndrome, type 17
MONDO:0032580Mondo
Findings
No curated finding names nephrotic syndrome, type 17 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 · Childhood onset
HPO, annotations 2026-09-02
Features
6 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
- 3 of 3 reported patients
- Microscopic hematuriaHPOHP:0002907
- 4 of 4 reported patients
- Steroid-resistant nephrotic syndromeHPOHP:0012588
- 4 of 4 reported patients
- Stage 5 chronic kidney diseaseHPOHP:0003774
- 3 of 4 reported patients
- Short statureHPOHP:0004322
- 1 of 4 reported patients
- ProteinuriaHPOHP:0000093
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.
- NUP85HGNC:8734
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2020
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Moderate · Ambry Genetics · Autosomal recessive · 2024
Where it sits
- A kind of