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focal segmental glomerulosclerosis 2 (FSGS2) - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

focal segmental glomerulosclerosis 2

MONDO:0011390

Also known as:FSGS2TRPC6 focal segmental glomerulosclerosisfocal segmental glomerulosclerosis caused by mutation in TRPC6

Find Clinical TrialsTrials

Overview

Any focal segmental glomerulosclerosis in which the cause of the disease is a mutation in the TRPC6 gene.

GeneticsAutosomal dominant · TRPC6 (chr 11)

Clinical Trials1 registered · 1 recruiting

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, Nephrotic syndrome, Focal segmental glomerulosclerosis, and Hypertension and 2 more.

Organ System	Phenotype Count	Example Features
Kidneys and urinary system	5	Stage 5 chronic kidney disease, Nephrotic syndrome, Focal segmental glomerulosclerosis

Genetic Landscape

TRPC6 function has not been fully characterized.

Focal segmental glomerulosclerosis 2 is associated with mutations in the TRPC6 gene on chromosome 11.

Diagnosis

Genetic testing for TRPC6 is available. Testing is considered confirmatory for diagnosis.

Biomarker and diagnostic research for focal segmental glomerulosclerosis 2 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.

1 clinical trial registered, 1 recruiting. Interventions under study include drug therapy. Pipeline includes 1 PHASE3. Research is primarily industry-sponsored.

81 publications have been identified in PubMed for focal segmental glomerulosclerosis 2. Research spans Case Report / Case Series (26%), Basic Science / Preclinical (23%), and Epidemiology / Natural History (21%).

Research Type	Count	% of Total
Patient case studies	21	26%

Data assembled from 6 of 12 sources · Last updated Sep 18, 2026, 4:58 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:603965

GARD

Genetic and Rare Diseases Info Center

GARD:15362

Questions for Your Care Team

→Are any of the 1 active clinical trial a good fit for my situation?
→Should I pursue genetic testing for TRPC6, 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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focal segmental glomerulosclerosis 2

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Research Landscape

Medical References

External Resources

OMIM

GARD

Questions for Your Care Team

Questions for Your Care Team

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focal segmental glomerulosclerosis 2

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