nephrotic syndrome, type 22
MONDO:0030895Mondo
Findings
No curated finding names nephrotic syndrome, type 22 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
- Infantile onset · Neonatal onset
HPO, annotations 2026-09-02
Features
9 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.
- Generalized edemaHPOHP:0007430
- 2 of 2 reported patients
- Glomerular sclerosisHPOHP:0000096
- 1 of 1 reported patient
- HypoproteinemiaHPOHP:0003075
- 2 of 2 reported patients
- Microscopic hematuriaHPOHP:0002907
- 2 of 2 reported patients
- Nephrotic range proteinuriaHPOHP:0012593
- 2 of 2 reported patients
- Nephrotic syndromeHPOHP:0000100
- 2 of 2 reported patients
- Podocyte foot process effacementHPOHP:0031266
- 1 of 1 reported patient
- Stage 5 chronic kidney diseaseHPOHP:0003774
- 1 of 1 reported patient · Juvenile onset
- Thickened glomerular basement membraneHPOHP:0004722
- 1 of 1 reported patient
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.
- NOS1APHGNC:16859
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Limited · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2021
Where it sits
- A kind of
Other names
1 name
Resolves to: nephrotic syndrome, type 22
- Also called
- NPHS22