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nephrotic syndrome, type 18 - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

nephrotic syndrome, type 18

MONDO:0032581

Also known as:NPHS18

Overview

GeneticsAutosomal recessive · NUP133 (chr 1)

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 and Focal segmental glomerulosclerosis; and common findings: Steroid-resistant nephrotic syndrome. 4 total HPO annotations.

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

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.

NUP133 encodes nucleoporin 133 (1,156 aa). Involved in poly(A)+ RNA transport. Involved in nephrogenesis Highest expression in Nerve Tibial (35.8 TPM) and Ovary (33.2 TPM).

Nephrotic syndrome, type 18 has been associated with mutations in the NUP133 gene on chromosome 1.

NUP133 is classified as a druggable target with score 0.0.

Diagnosis

Genetic testing for NUP133 is available. Testing is considered supportive for diagnosis.

Biomarker and diagnostic research for nephrotic syndrome, type 18 has been reported in the published literature.

Prognosis

Phenotype severity distribution: 2 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 nephrotic syndrome, type 18.

35 publications have been identified in PubMed for nephrotic syndrome, type 18. Research spans Case Report / Case Series (38%), Epidemiology / Natural History (32%), and Diagnostic / Biomarker (9%).

Research Type	Count	% of Total
Patient case studies	13	38%

Data assembled from 6 of 12 sources · Last updated Sep 19, 2026, 9:39 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:618177

GARD

Genetic and Rare Diseases Info Center

GARD:16300

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 18

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 18

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