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nephrotic syndrome, type 3 - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

nephrotic syndrome, type 3

MONDO:0012546

Also known as:PLCE1 nephrotic syndromenephrotic syndrome caused by mutation in PLCE1NPHS3

Overview

Any nephrotic syndrome in which the cause of the disease is a mutation in the PLCE1 gene.

GeneticsAutosomal recessive · PLCE1 (chr 10)

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: Nephrotic syndrome; and very common findings: Diffuse mesangial sclerosis. 7 total HPO annotations.

Organ System	Phenotype Count	Example Features
Kidneys and urinary system	4	Stage 5 chronic kidney disease, Nephrotic syndrome, Focal segmental glomerulosclerosis

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Genetic Landscape

PLCE1 function has not been fully characterized.

Nephrotic syndrome, type 3 is caused by mutations in the PLCE1 gene on chromosome 10.

Diagnosis

Genetic testing for PLCE1 is available. Testing is considered confirmatory for diagnosis.

Biomarker and diagnostic research for nephrotic syndrome, type 3 has been reported in the published literature.

Prognosis

Phenotype severity distribution: 1 always present feature, 1 very common feature, 2 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 3.

34 publications have been identified in PubMed for nephrotic syndrome, type 3. Research spans Basic Science / Preclinical (35%), Epidemiology / Natural History (24%), and Case Report / Case Series (15%).

Research Type	Count	% of Total
Laboratory research	12	35%

Data assembled from 6 of 12 sources · Last updated Sep 19, 2026, 11:54 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:610725

GARD

Genetic and Rare Diseases Info Center

GARD:15495

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 3

Overview

Clinical Presentation

Explore clinical features

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

OMIM

GARD

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Questions for Your Care Team

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