nephrotic syndrome, type 23
MONDO:0030962Mondo
Findings
No curated finding names nephrotic syndrome, type 23 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 · 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.
- ProteinuriaHPOHP:0000093
- 2 of 2 reported patients
- Steroid-resistant nephrotic syndromeHPOHP:0012588
- 2 of 2 reported patients
- Focal segmental glomerulosclerosisHPOHP:0000097
- 1 of 2 reported patients
- Mesangial hypercellularityHPOHP:0012574
- 1 of 2 reported patients
- Minimal change glomerulonephritisHPOHP:0012579
- 1 of 2 reported patients
- Podocyte foot process effacementHPOHP:0031266
- 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.
- KIRREL1HGNC:15734
- Moderate · PanelApp Australia · Autosomal recessive · 2025
- Limited · Labcorp Genetics (formerly Invitae) · Unknown · 2021
Where it sits
- A kind of
Other names
1 name
Resolves to: nephrotic syndrome, type 23
- Also called
- NPHS23