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focal segmental glomerulosclerosis 5 (FSGS5) - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

focal segmental glomerulosclerosis 5

MONDO:0013191

Also known as:FSGS5INF2 focal segmental glomerulosclerosisfocal segmental glomerulosclerosis caused by mutation in INF2

Overview

Any focal segmental glomerulosclerosis in which the cause of the disease is a mutation in the INF2 gene.

GeneticsAutosomal dominant · INF2 (chr 14)

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: Stage 5 chronic kidney disease, Microscopic hematuria, Focal segmental glomerulosclerosis, and Hypertension and 1 more.

Organ System	Phenotype Count	Example Features
Kidneys and urinary system	4	Stage 5 chronic kidney disease, Microscopic hematuria, Focal segmental glomerulosclerosis

Genetic Landscape

Assembled from HGNC gene records, ClinGen gene-disease validity evidence, and ClinVar pathogenic variant data. Validity classifications reflect the strength of published evidence linking each gene to this disease.

INF2 encodes inverted formin 2 (1,249 aa). Severs actin filaments and accelerates their polymerization and depolymerization Highest expression in Nerve Tibial (204.3 TPM) and Artery Tibial (83.1 TPM).

Focal segmental glomerulosclerosis 5 is associated with mutations in the INF2 gene on chromosome 14.

INF2 is classified as a druggable target with score 0.0.

Diagnosis

Genetic testing for INF2 is available. Testing is considered confirmatory for diagnosis.

Biomarker and diagnostic research for focal segmental glomerulosclerosis 5 has been reported in the published literature.

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 5.

53 publications have been identified in PubMed for focal segmental glomerulosclerosis 5. Research spans Case Report / Case Series (28%), Basic Science / Preclinical (23%), and Epidemiology / Natural History (21%).

Research Type	Count	% of Total
Patient case studies	15	28%

Data assembled from 5 of 12 sources · Last updated Sep 19, 2026, 11:53 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:613237

GARD

Genetic and Rare Diseases Info Center

GARD:15636

Questions for Your Care Team

→Should I pursue genetic testing for INF2, 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?

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Kisho

focal segmental glomerulosclerosis 5

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Research Landscape

Medical References

External Resources

OMIM

GARD

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

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 5

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Research Landscape

Medical References

External Resources

OMIM

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

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