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focal segmental glomerulosclerosis 6 (FSGS6) - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

focal segmental glomerulosclerosis 6

MONDO:0013589

Also known as:FSGS6MYO1E focal segmental glomerulosclerosisfocal segmental glomerulosclerosis caused by mutation in MYO1E

Overview

Any focal segmental glomerulosclerosis in which the cause of the disease is a mutation in the MYO1E gene.

GeneticsAutosomal recessive · MYO1E (chr 15)

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: Nephrotic syndrome, Edema, Focal segmental glomerulosclerosis, and Blood in the urine (hematuria) and others; and common findings: Renal tubular atrophy. 8 total HPO annotations.

Organ System	Phenotype Count	Example Features
Kidneys and urinary system	6	Stage 5 chronic kidney disease, Nephrotic syndrome, 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.

MYO1E encodes myosin IE (1,108 aa). Actin-based motor molecule with ATPase activity. Unconventional myosins serve in intracellular movements. Highest expression in Cells EBV-transformed lymphocytes (52.2 TPM) and Artery Tibial (41.9 TPM).

Focal segmental glomerulosclerosis 6 is associated with mutations in the MYO1E gene on chromosome 15.

MYO1E is classified as a druggable target with score 0.0.

Diagnosis

Genetic testing for MYO1E is available. Testing is considered confirmatory for diagnosis.

Biomarker and diagnostic research for focal segmental glomerulosclerosis 6 has been reported in the published literature.

Prognosis

Phenotype severity distribution: 6 always present features, 1 common feature.

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 6.

221 publications have been identified in PubMed for focal segmental glomerulosclerosis 6. Research spans Epidemiology / Natural History (27%), Case Report / Case Series (21%), and Basic Science / Preclinical (14%).

Research Type	Count	% of Total
Disease patterns and progression	60	27%

Data assembled from 5 of 12 sources · Last updated Sep 18, 2026, 6:35 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:614131

GARD

Genetic and Rare Diseases Info Center

GARD:15761

Questions for Your Care Team

→Should my partner and I meet with a genetic counselor to discuss carrier status and family planning?
→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 6

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

OMIM

GARD

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Recent Publications

focal segmental glomerulosclerosis 6

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

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