focal segmental glomerulosclerosis 1
Findings
No curated finding names focal segmental glomerulosclerosis 1 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 ACTN4 gene.
Definition from the Mondo Disease Ontology (MONDO:0011303), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal dominant inheritance
- Onset and course
- Slowly progressive
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.
- AnemiaHPOHP:0001903
- 1 of 1 reported patient
- AscitesHPOHP:0001541
- 1 of 1 reported patient
- Focal segmental glomerulosclerosisHPOHP:0000097
- 1 of 1 reported patient
- Hyperechogenic kidneysHPOHP:0004719
- 1 of 1 reported patient
- HypertensionHPOHP:0000822
- 1 of 1 reported patient
- Pleural effusionHPOHP:0002202
- 1 of 1 reported patient
- ProteinuriaHPOHP:0000093
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.
- ACTN4HGNC:166
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2021
- Strong · PanelApp Australia · Autosomal dominant · 2025
- Moderate · Ambry Genetics · Autosomal dominant · 2018
Where it sits
Other names
5 names
Resolves to: focal segmental glomerulosclerosis 1
- Also called
- ACTN4 focal segmental glomerulosclerosisfamilial idiopathic steroid-resistant nephrotic syndrome with focal segmental glomerulosclerosisfocal segmental glomerulosclerosis caused by mutation in ACTN4focal segmental glomerulosclerosis type 1FSGS1