focal segmental glomerulosclerosis 5
Findings
No curated finding names focal segmental glomerulosclerosis 5 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 INF2 gene.
Definition from the Mondo Disease Ontology (MONDO:0013191), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal dominant inheritance
- Onset and course
- Adult onset
HPO, annotations 2026-09-02
Features
5 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.
- Focal segmental glomerulosclerosisHPOHP:0000097
- HypertensionHPOHP:0000822
- Microscopic hematuriaHPOHP:0002907
- ProteinuriaHPOHP:0000093
- Stage 5 chronic kidney diseaseHPOHP:0003774
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.
- INF2HGNC:23791
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2023
- Strong · PanelApp Australia · Autosomal dominant · 2025
Where it sits
Other names
4 names
Resolves to: focal segmental glomerulosclerosis 5
- Also called
- focal segmental glomerulosclerosis caused by mutation in INF2focal segmental glomerulosclerosis type 5FSGS5INF2 focal segmental glomerulosclerosis