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

Rare Disease

nephrotic syndrome, type 22

MONDO:0030895

Also known as:NPHS22

Overview

GeneticsAutosomal recessive · NOS1AP (chr 1)

OnsetJUVENILE

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: Stage 5 chronic kidney disease, Nephrotic syndrome, Microscopic hematuria, and Hypoproteinemia and others.

Organ System	Phenotype Count	Example Features
Kidneys and urinary system	6	Stage 5 chronic kidney disease, Nephrotic syndrome, Microscopic hematuria

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.

NOS1AP encodes nitric oxide synthase 1 adaptor protein (506 aa). Adapter protein involved in neuronal nitric-oxide (NO) synthesis regulation via its association with nNOS/NOS1. Highest expression in Brain Cerebellar Hemisphere (21.7 TPM) and Brain Cerebellum (20.8 TPM).

Nephrotic syndrome, type 22 is associated with mutations in the NOS1AP gene on chromosome 1.

NOS1AP is classified as a druggable target with score 1.1.

Diagnosis

Genetic testing for NOS1AP is available. Testing is considered confirmatory for diagnosis.

Biomarker and diagnostic research for nephrotic syndrome, type 22 has been reported in the published literature.

Prognosis

Phenotype severity distribution: 9 always present 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 22.

18 publications have been identified in PubMed for nephrotic syndrome, type 22. Research spans Epidemiology / Natural History (33%), Diagnostic / Biomarker (17%), and Case Report / Case Series (17%).

Research Type	Count	% of Total
Disease patterns and progression	6	33%

Data assembled from 5 of 12 sources · Last updated Sep 19, 2026, 4:29 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:619155

GARD

Genetic and Rare Diseases Info Center

GARD:16428

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

Kisho

nephrotic syndrome, type 22

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 22

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