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focal segmental glomerulosclerosis 8 - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

focal segmental glomerulosclerosis 8

MONDO:0014462

Also known as:ANLN focal segmental glomerulosclerosisFSGS8focal segmental glomerulosclerosis caused by mutation in ANLN

Overview

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

GeneticsAutosomal dominant · ANLN (chr 7)

OnsetADULT

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, Focal segmental glomerulosclerosis, and Protein in the urine (proteinuria). 4 total HPO annotations.

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

Age of onset: adulthood.

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.

ANLN encodes anillin, actin binding protein (1,124 aa). Required for cytokinesis. Essential for the structural integrity of the cleavage furrow and for completion of cleavage furrow ingression. Highest expression in Brain Spinal cord cervical c-1 (238.6 TPM) and Brain Substantia nigra (68.7 TPM).

Focal segmental glomerulosclerosis 8 is associated with mutations in the ANLN gene on chromosome 7.

ANLN is classified as a druggable target with score 0.0.

Diagnosis

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

Biomarker and diagnostic research for focal segmental glomerulosclerosis 8 has been reported in the published literature.

Prognosis

Phenotype severity distribution: 3 always present features.

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 8.

181 publications have been identified in PubMed for focal segmental glomerulosclerosis 8. Kisho has analyzed 89 by research type. Research spans Epidemiology / Natural History (22%), Clinical Trial Publication (17%), and Basic Science / Preclinical (16%).

Research Type	Count	% of Total
Disease patterns and progression	20	22%

Data assembled from 5 of 12 sources · Last updated Sep 18, 2026, 8:09 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:616032

GARD

Genetic and Rare Diseases Info Center

GARD:16051

Questions for Your Care Team

→Should I pursue genetic testing for ANLN, 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 8

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 8

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