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focal segmental glomerulosclerosis 9 - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

focal segmental glomerulosclerosis 9

MONDO:0014539

Also known as:CRB2 focal segmental glomerulosclerosisFSGS9focal segmental glomerulosclerosis caused by mutation in CRB2

Overview

Any focal segmental glomerulosclerosis in which the cause of the disease is a mutation in the CRB2 gene.

GeneticsAutosomal recessive · CRB2 (chr 9)

Clinical Presentation

Features include always present findings: Focal segmental glomerulosclerosis and Steroid-resistant nephrotic syndrome.

Organ System	Phenotype Count	Example Features
Kidneys and urinary system	2	Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome

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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.

CRB2 encodes crumbs cell polarity complex component 2 (1,285 aa). Apical polarity protein that plays a central role during the epithelial-to-mesenchymal transition (EMT) at gastrulation, when newly specified mesodermal cells move inside the embryo. Highest expression in Brain Cortex (7.8 TPM) and Brain Caudate basal ganglia (6.9 TPM).

Focal segmental glomerulosclerosis 9 is caused by mutations in the CRB2 gene on chromosome 9.

CRB2 is classified as a druggable target (Druggable Genome category) with score 0.0.

Diagnosis

Genetic testing for CRB2 is available. Testing is considered confirmatory for diagnosis.

Biomarker and diagnostic research for focal segmental glomerulosclerosis 9 has been reported in the published literature.

Prognosis

Phenotype severity distribution: 2 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 9.

183 publications have been identified in PubMed for focal segmental glomerulosclerosis 9. Research spans Case Report / Case Series (26%), Epidemiology / Natural History (24%), and Basic Science / Preclinical (19%).

Research Type	Count	% of Total
Patient case studies	47	26%

Data assembled from 6 of 12 sources · Last updated Sep 20, 2026, 1:11 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:616220

GARD

Genetic and Rare Diseases Info Center

GARD:16070

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 9

Overview

Clinical Presentation

Explore clinical features

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

OMIM

GARD

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