nephrotic syndrome, type 6
MONDO:0013619Mondo
Findings
No curated finding names nephrotic syndrome, type 6 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Any nephrotic syndrome in which the cause of the disease is a mutation in the PTPRO gene.
Definition from the Mondo Disease Ontology (MONDO:0013619), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Juvenile onset
HPO, annotations 2026-09-02
Features
8 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.
- EdemaHPOHP:0000969
- 5 of 5 reported patients
- HypoalbuminemiaHPOHP:0003073
- 5 of 5 reported patients
- Nephrotic syndromeHPOHP:0000100
- 5 of 5 reported patients
- ProteinuriaHPOHP:0000093
- 5 of 5 reported patients
- Focal segmental glomerulosclerosisHPOHP:0000097
- 1 of 2 reported patients
- Minimal change glomerulonephritisHPOHP:0012579
- 1 of 2 reported patients
- Tubulointerstitial fibrosisHPOHP:0005576
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.
- PTPROHGNC:9678
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2020
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Limited · Ambry Genetics · Autosomal recessive · 2022
Where it sits
Other names
2 names
Resolves to: nephrotic syndrome, type 6
- Also called
- nephrotic syndrome caused by mutation in PTPROPTPRO nephrotic syndrome