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nephrotic syndrome, type 19 - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

nephrotic syndrome, type 19

MONDO:0032582

Also known as:NPHS19

Overview

GeneticsAutosomal recessive · NUP160 (chr 11)

ResearchLimited published research (6 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: Protein in the urine (proteinuria); and common findings: Focal segmental glomerulosclerosis, Stage 3 chronic kidney disease, and Steroid-resistant nephrotic syndrome.

Organ System	Phenotype Count	Example Features
Kidneys and urinary system	4	Focal segmental glomerulosclerosis, Stage 3 chronic kidney disease, 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.

NUP160 encodes nucleoporin 160 (1,436 aa). Functions as a component of the nuclear pore complex (NPC). Involved in poly(A)+ RNA transport Highest expression in Cells EBV-transformed lymphocytes (35.8 TPM) and Ovary (31.5 TPM).

Nephrotic syndrome, type 19 has been associated with mutations in the NUP160 gene on chromosome 11.

NUP160 is classified as a druggable target with score 0.0.

Diagnosis

Genetic testing for NUP160 is available. Testing is considered supportive for diagnosis.

Prognosis

Phenotype severity distribution: 1 always present feature, 3 common 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 19.

6 publications have been identified in PubMed for nephrotic syndrome, type 19. Research spans Review / Meta-Analysis (50%), Case Report / Case Series (33%), and Basic Science / Preclinical (17%).

Recent Publications

Caffarelli C (2025). [PMID: 41310799](https://pubmed.ncbi.nlm.nih.gov/41310799/). *Ital J Pediatr*. [Review / Meta-Analysis]
Zafar F (2025). [PMID: 40761226](https://pubmed.ncbi.nlm.nih.gov/40761226/). *AME Case Rep*. [Case Report / Case Series]
Liu Y (2025). [PMID: 39834623](https://pubmed.ncbi.nlm.nih.gov/39834623/). *Clin Kidney J*. [Case Report / Case Series]
Li Y (2024). [PMID: 39080077](https://pubmed.ncbi.nlm.nih.gov/39080077/). *J Cancer Res Clin Oncol*. [Review / Meta-Analysis]
Fare CM (2024). [PMID: 38383349](https://pubmed.ncbi.nlm.nih.gov/38383349/). *Nucleus*. [Review / Meta-Analysis]
Prasad N (2024). [PMID: 39135934](https://pubmed.ncbi.nlm.nih.gov/39135934/). *Clin Kidney J*. [Basic Science / Preclinical]

Data assembled from 6 of 12 sources · Last updated Sep 18, 2026, 5:06 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:618178

GARD

Genetic and Rare Diseases Info Center

GARD:16301

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 19

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

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