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focal segmental glomerulosclerosis 1 - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

focal segmental glomerulosclerosis 1

MONDO:0011303

Also known as:ACTN4 focal segmental glomerulosclerosisFSGS1familial idiopathic steroid-resistant nephrotic syndrome with focal segmental glomerulosclerosis

Overview

Any focal segmental glomerulosclerosis in which the cause of the disease is a mutation in the ACTN4 gene.

GeneticsAutosomal dominant · ACTN4 (chr 19)

Clinical Presentation

Built from Human Phenotype Ontology (HPO) phenotype annotations and GeneReviews clinical descriptions. Features represent findings documented across known cases — not an exhaustive list of possible symptoms.

Features include always present findings: Stage 5 chronic kidney disease, Pleural effusion, Ascites, and Reduced renal corticomedullary differentiation and others. 12 total HPO annotations.

Data assembled from 7 of 12 sources · Last updated Sep 19, 2026, 12:49 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:603278

Orphanet

European rare disease database

Orphanet:93213

GARD

Genetic and Rare Diseases Info Center

GARD:15353

Questions for Your Care Team

→Should I pursue genetic testing for ACTN4, and what would the results mean for my family?
→Are there specialists or centers of excellence for this condition in my area?
→Is there a patient registry I should consider joining?

← Back to All Diseases

Organ System	Phenotype Count	Example Features
Kidneys and urinary system	5	Stage 5 chronic kidney disease, Reduced renal corticomedullary differentiation, Focal segmental glomerulosclerosis
Lungs and breathing	1	Pleural effusion
Digestive system	1	Ascites
Metabolism	1	High blood fat levels (hyperlipidemia)
Blood and immune system	1	Low red blood cell count (anemia)
Heart and blood vessels	1	Hypertension

Research Landscape

Sourced from ClinicalTrials.gov and PubMed. Publication types are classified using NLM-curated article metadata; research type breakdowns reflect the nature of published work for this disease.

No clinical trials have been registered for focal segmental glomerulosclerosis 1.

10 publications have been identified in PubMed for focal segmental glomerulosclerosis 1. Research spans Review / Meta-Analysis (30%), Diagnostic / Biomarker (20%), and Basic Science / Preclinical (20%).

Research Type	Count	% of Total
Research summaries	3	30%
Testing and diagnosis research	2	20%
Laboratory research	2	20%
Other research	1	10%
Patient case studies	1	10%
Disease patterns and progression	1	10%

Recent Publications

Cascio S (2026). [PMID: 42080947](https://pubmed.ncbi.nlm.nih.gov/42080947/). *Pediatr Surg Int*. [Other]
Zhang J (2026). [PMID: 41492027](https://pubmed.ncbi.nlm.nih.gov/41492027/). *CEN case reports*. [Diagnostic / Biomarker]
Hammad AM (2026). [PMID: 41914989](https://pubmed.ncbi.nlm.nih.gov/41914989/). *Saudi journal of kidney diseases and transplantation : an official publication of the Saudi Center for Organ Transplantation, Saudi Arabia*. [Diagnostic / Biomarker]
Oatley Z (2026). [PMID: 41906863](https://pubmed.ncbi.nlm.nih.gov/41906863/). *Cell transplantation*. [Review / Meta-Analysis]
Chin AC (2026). [PMID: 41867833](https://pubmed.ncbi.nlm.nih.gov/41867833/). *bioRxiv : the preprint server for biology*. [Basic Science / Preclinical]
Miyasako K (2025). [PMID: 41013435](https://pubmed.ncbi.nlm.nih.gov/41013435/). *BMC nephrology*. [Review / Meta-Analysis]
Sugimura M (2025). [PMID: 40980659](https://pubmed.ncbi.nlm.nih.gov/40980659/). *Kidney international reports*. [Basic Science / Preclinical]
Li W (2025). [PMID: 40925038](https://pubmed.ncbi.nlm.nih.gov/40925038/). *The Turkish journal of pediatrics*. [Review / Meta-Analysis]
Wieliczko M (2024). [PMID: 38664100](https://pubmed.ncbi.nlm.nih.gov/38664100/). *Transplantation proceedings*. [Epidemiology / Natural History]
Alarcón I (2024). [PMID: 39958702](https://pubmed.ncbi.nlm.nih.gov/39958702/). *Frontiers in nephrology*. [Case Report / Case Series]

Kisho

focal segmental glomerulosclerosis 1

Overview

Clinical Presentation

Medical References

External Resources

OMIM

Orphanet

GARD

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Recent Publications

Latest News & Developments

Rapidly progressive steroid-resistant focal segmental glomerulosclerosis associated with an INF2 exon 6 variant.

Anti-CD38/Anti-CD20 Rescue Therapy for Posttransplant Recurrent FSGS.

Under-enrollment in rare kidney disease trials: lessons learned from the PRIVENT recurrent FSGS.

Travere’s Filspari overcomes Phase 3 fail to become first drug for rare kidney disease

focal segmental glomerulosclerosis 1

Overview

Clinical Presentation

Medical References

External Resources

OMIM

Orphanet

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Recent Publications

Latest News & Developments

Rapidly progressive steroid-resistant focal segmental glomerulosclerosis associated with an INF2 exon 6 variant.

Anti-CD38/Anti-CD20 Rescue Therapy for Posttransplant Recurrent FSGS.

Under-enrollment in rare kidney disease trials: lessons learned from the PRIVENT recurrent FSGS.

Travere’s Filspari overcomes Phase 3 fail to become first drug for rare kidney disease