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

Rare Disease

nephrotic syndrome, type 13

MONDO:0014818

Also known as:NPHS13NUP205 familial nephrotic syndromefamilial nephrotic syndrome caused by mutation in NUP205

Overview

Any familial nephrotic syndrome in which the cause of the disease is a mutation in the NUP205 gene.

GeneticsAutosomal recessive · NUP205 (chr 7)

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: Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis, and Steroid-resistant nephrotic syndrome.

Organ System	Phenotype Count	Example Features
Kidneys and urinary system	3	Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome

Explore clinical features

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.

NUP205 encodes nucleoporin 205 (2,012 aa). Plays a role in the nuclear pore complex (NPC) assembly and/or maintenance. May anchor NUP62 and other nucleoporins, but not NUP153 and TPR, to the NPC. Highest expression in Cells EBV-transformed lymphocytes (70.9 TPM) and Cells Cultured fibroblasts (32.1 TPM).

Nephrotic syndrome, type 13 has limited evidence linking it to mutations in the NUP205 gene on chromosome 7.

NUP205 is classified as a druggable target (Transporter category) with score 0.0.

Diagnosis

Genetic testing for NUP205 is available. Testing is considered research-grade for diagnosis.

Biomarker and diagnostic research for nephrotic syndrome, type 13 has been reported in the published literature.

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 13.

40 publications have been identified in PubMed for nephrotic syndrome, type 13. Research spans Case Report / Case Series (43%), Epidemiology / Natural History (23%), and Basic Science / Preclinical (10%).

Research Type	Count	% of Total
Patient case studies	17	43%

Data assembled from 6 of 12 sources · Last updated Sep 19, 2026, 7:49 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:616893

GARD

Genetic and Rare Diseases Info Center

GARD:16167

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 13

Overview

Clinical Presentation

Explore clinical features

Genetic Landscape

Diagnosis

Research Landscape

Medical References

External Resources

OMIM

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

Recent Publications