nephrotic syndrome, type 20
MONDO:0026726Mondo
Findings
No curated finding names nephrotic syndrome, type 20 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
- Inheritance
- X-linked inheritance
- Onset and course
- Congenital onset · Adult onset · Infantile onset · Juvenile onset · Childhood onset
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
- 6 of 6 reported patients
- Steroid-resistant nephrotic syndromeHPOHP:0012588
- 6 of 6 reported patients
- Focal segmental glomerulosclerosisHPOHP:0000097
- 2 of 3 reported patients
- Stage 5 chronic kidney diseaseHPOHP:0003774
- 2 of 4 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.
- TBC1D8BHGNC:24715
- Strong · Labcorp Genetics (formerly Invitae) · X-linked · 2021
- Strong · PanelApp Australia · X-linked · 2025
- Moderate · ClinGen · X-linked · 2023
- Limited · Ambry Genetics · X-linked · 2022
Where it sits
- A kind of