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 17 - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

nephrotic syndrome, type 17

MONDO:0032580

Also known as:NPHS17

Overview

GeneticsAutosomal recessive · NUP85 (chr 17)

ResearchLimited published research (3 articles)

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: Microscopic hematuria, Focal segmental glomerulosclerosis, and Steroid-resistant nephrotic syndrome; and common findings: Stage 5 chronic kidney disease. 6 total HPO annotations.

Organ System	Phenotype Count	Example Features
Kidneys and urinary system	5	Stage 5 chronic kidney disease, Microscopic hematuria, Focal segmental glomerulosclerosis

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.

NUP85 encodes nucleoporin 85 (656 aa). Essential component of the nuclear pore complex (NPC) that seems to be required for NPC assembly and maintenance. Highest expression in Brain Cerebellar Hemisphere (55.5 TPM) and Brain Cerebellum (51.1 TPM).

Nephrotic syndrome, type 17 is associated with mutations in the NUP85 gene on chromosome 17.

NUP85 is classified as a druggable target (Kinase category) with score 0.0.

Diagnosis

Genetic testing for NUP85 is available. Testing is considered confirmatory for diagnosis.

Biomarker and diagnostic research for nephrotic syndrome, type 17 has been reported in the published literature.

Prognosis

Phenotype severity distribution: 3 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 17.

3 publications have been identified in PubMed for nephrotic syndrome, type 17. Research spans Diagnostic / Biomarker (33%), Review / Meta-Analysis (33%), and Case Report / Case Series (33%).

Recent Publications

Liu Y (2025). [PMID: 39834623](https://pubmed.ncbi.nlm.nih.gov/39834623/). *Clinical kidney journal*. [Case Report / Case Series]
Gajardo M (2025). [PMID: 40337643](https://pubmed.ncbi.nlm.nih.gov/40337643/). *Frontiers in molecular biosciences*. [Review / Meta-Analysis]
Ichikawa Y (2024). [PMID: 39093455](https://pubmed.ncbi.nlm.nih.gov/39093455/). *Pediatric nephrology (Berlin, Germany)*. [Diagnostic / Biomarker]

Data assembled from 5 of 12 sources · Last updated Sep 19, 2026, 5:19 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:618176

GARD

Genetic and Rare Diseases Info Center

GARD:16299

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?

← Back to All Diseases

nephrotic syndrome, type 17

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features