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nephrotic syndrome, type 23 - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

nephrotic syndrome, type 23

MONDO:0030962

Also known as:NPHS23

Overview

GeneticsAutosomal recessive · KIRREL1 (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: Protein in the urine (proteinuria) and Steroid-resistant nephrotic syndrome; and common findings: Mesangial hypercellularity, Focal segmental glomerulosclerosis, Podocyte foot process effacement, and Minimal change glomerulonephritis.

Organ System	Phenotype Count	Example Features
Kidneys and urinary system	4	Focal segmental glomerulosclerosis, Protein in the urine (proteinuria), Steroid-resistant nephrotic syndrome

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.

KIRREL1 encodes kirre like nephrin family adhesion molecule 1 (757 aa). Required for proper function of the glomerular filtration barrier. Highest expression in Cells Cultured fibroblasts (91.7 TPM) and Artery Aorta (57.0 TPM).

Nephrotic syndrome, type 23 is associated with mutations in the KIRREL1 gene on chromosome 1.

KIRREL1 is classified as a druggable target (Kinase and Transcription Factor categories) with score 0.0.

Diagnosis

Genetic testing for KIRREL1 is available. Testing is considered confirmatory for diagnosis.

Prognosis

Phenotype severity distribution: 2 always present features, 4 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 23.

25 publications have been identified in PubMed for nephrotic syndrome, type 23. Research spans Case Report / Case Series (36%), Basic Science / Preclinical (20%), and Review / Meta-Analysis (16%).

Research Type	Count	% of Total
Patient case studies	9	36%

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:619201

GARD

Genetic and Rare Diseases Info Center

GARD:16435

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 23

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 23

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