Kisho

Kisho is an information platform, not a medical provider. Nothing on this site constitutes medical advice, diagnosis, or treatment recommendations. All content is aggregated from publicly available sources (including ClinicalTrials.gov, PubMed, FDA.gov, and Orphanet) and is provided for informational purposes only. Clinical trial eligibility, treatment decisions, and any health-related actions should always be discussed with a qualified healthcare professional. Kisho does not endorse any specific therapy, organization, or clinical trial. Terms of use · Privacy policy

nephrotic syndrome, type 20 - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

nephrotic syndrome, type 20

MONDO:0026726

Also known as:NPHS20

Overview

GeneticsX-linked · TBC1D8B (chr X)

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: Protein in the urine (proteinuria) and Steroid-resistant nephrotic syndrome; and common findings: Stage 5 chronic kidney disease and Focal segmental glomerulosclerosis.

Organ System	Phenotype Count	Example Features
Kidneys and urinary system	4	Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis, Protein in the urine (proteinuria)

Genetic Landscape

TBC1D8B function has not been fully characterized.

Nephrotic syndrome, type 20 has been associated with mutations in the TBC1D8B gene on chromosome X.

Diagnosis

Genetic testing for TBC1D8B is available. Testing is considered supportive for diagnosis.

Biomarker and diagnostic research for nephrotic syndrome, type 20 has been reported in the published literature.

Prognosis

Phenotype severity distribution: 2 always present features, 2 common 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 nephrotic syndrome, type 20.

42 publications have been identified in PubMed for nephrotic syndrome, type 20. Research spans Case Report / Case Series (31%), Epidemiology / Natural History (21%), and Clinical Trial Publication (17%).

Research Type	Count	% of Total
Patient case studies	13	31%

Data assembled from 6 of 12 sources · Last updated Sep 19, 2026, 1:02 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:301028

GARD

Genetic and Rare Diseases Info Center

GARD:15285

Questions for Your Care Team

→Should female family members consider carrier screening for TBC1D8B?
→Are there specialists or centers of excellence for this condition in my area?
→Is there a patient registry I should consider joining?

← Back to All Diseases

Kisho

nephrotic syndrome, type 20

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

nephrotic syndrome, type 20

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