focal segmental glomerulosclerosis 6
Findings
No curated finding names focal segmental glomerulosclerosis 6 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Any focal segmental glomerulosclerosis in which the cause of the disease is a mutation in the MYO1E gene.
Definition from the Mondo Disease Ontology (MONDO:0013589), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Juvenile onset · Progressive · Childhood 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
- 2 of 2 reported patients
- Focal segmental glomerulosclerosisHPOHP:0000097
- 4 of 4 reported patients
- HematuriaHPOHP:0000790
- 2 of 2 reported patients
- HypoalbuminemiaHPOHP:0003073
- 2 of 2 reported patients
- Nephrotic syndromeHPOHP:0000100
- 2 of 2 reported patients
- ProteinuriaHPOHP:0000093
- 4 of 4 reported patients
- Renal tubular atrophyHPOHP:0000092
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.
- MYO1EHGNC:7599
- Strong · Ambry Genetics · Autosomal recessive · 2018
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2023
- Strong · PanelApp Australia · Autosomal recessive · 2025
Where it sits
Other names
4 names
Resolves to: focal segmental glomerulosclerosis 6
- Also called
- focal segmental glomerulosclerosis caused by mutation in MYO1Efocal segmental glomerulosclerosis type 6FSGS6MYO1E focal segmental glomerulosclerosis