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nephrotic syndrome, type 11 - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

nephrotic syndrome, type 11

MONDO:0014752

Also known as:NPHS11NUP107 familial nephrotic syndromefamilial nephrotic syndrome caused by mutation in NUP107

Overview

Any familial nephrotic syndrome in which the cause of the disease is a mutation in the NUP107 gene.

GeneticsAutosomal recessive · NUP107 (chr 12)

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 very common findings: Focal segmental glomerulosclerosis; and rarely findings: Ventricular septal defect, Enlarged and weakened heart (dilated cardiomyopathy), IgA deposition in the glomerulus, and Abnormal facial shape. 25 total HPO annotations.

Organ System	Phenotype Count	Example Features
Kidneys and urinary system	7	Stage 5 chronic kidney disease, Nephrotic syndrome, IgA deposition in the glomerulus

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.

NUP107 encodes nucleoporin 107 (925 aa). Plays a role in the nuclear pore complex (NPC) assembly and/or maintenance. Required for the assembly of peripheral proteins into the NPC. May anchor NUP62 to the NPC. Involved in nephrogenesis Highest expression in Cells EBV-transformed lymphocytes (28.5 TPM) and Testis (21.7 TPM).

Nephrotic syndrome, type 11 is associated with mutations in the NUP107 gene on chromosome 12.

NUP107 is classified as a druggable target (Transporter category) with score 0.0.

Diagnosis

Genetic testing for NUP107 is available. Testing is considered confirmatory for diagnosis.

Biomarker and diagnostic research for nephrotic syndrome, type 11 has been reported in the published literature.

Prognosis

Phenotype severity distribution: 1 very 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 11.

43 publications have been identified in PubMed for nephrotic syndrome, type 11. Research spans Case Report / Case Series (30%), Epidemiology / Natural History (23%), and Review / Meta-Analysis (14%).

Research Type	Count	% of Total
Patient case studies	13	30%

Data assembled from 5 of 12 sources · Last updated Sep 20, 2026, 3:02 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:616730

GARD

Genetic and Rare Diseases Info Center

GARD:16155

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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nephrotic syndrome, type 11

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 11

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