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nephrotic syndrome, type 12 - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

nephrotic syndrome, type 12

MONDO:0014817

Also known as:NPHS12NUP93 familial nephrotic syndromefamilial nephrotic syndrome caused by mutation in NUP93

Overview

Any familial nephrotic syndrome in which the cause of the disease is a mutation in the NUP93 gene.

GeneticsAutosomal recessive · NUP93 (chr 16)

OnsetCHILDHOOD

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: Focal segmental glomerulosclerosis and Steroid-resistant nephrotic syndrome. 5 total HPO annotations.

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

Age of onset: childhood.

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.

NUP93 encodes nucleoporin 93 (819 aa). Plays a role in the nuclear pore complex (NPC) assembly and/or maintenance. May anchor nucleoporins, but not NUP153 and TPR, to the NPC. Highest expression in Testis (20.3 TPM) and Cells EBV-transformed lymphocytes (19.2 TPM).

Nephrotic syndrome, type 12 is caused by mutations in the NUP93 gene on chromosome 16.

NUP93 is classified as a druggable target (Clinically Actionable and Transporter categories) with score 0.0.

Diagnosis

Genetic testing for NUP93 is available. Testing is considered confirmatory for diagnosis.

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 nephrotic syndrome, type 12.

56 publications have been identified in PubMed for nephrotic syndrome, type 12. Kisho has analyzed 25 by research type. Research spans Review / Meta-Analysis (28%), Epidemiology / Natural History (24%), and Clinical Trial Publication (20%).

Research Type	Count	% of Total
Research summaries	7	28%

Data assembled from 6 of 12 sources · Last updated Sep 19, 2026, 7:50 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:616892

GARD

Genetic and Rare Diseases Info Center

GARD:16166

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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Kisho

nephrotic syndrome, type 12

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 12

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