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nephrotic syndrome, type 10 - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

nephrotic syndrome, type 10

MONDO:0014373

Also known as:EMP2 nephrotic syndromenephrotic syndrome caused by mutation in EMP2NPHS10

Overview

Any nephrotic syndrome in which the cause of the disease is a mutation in the EMP2 gene.

GeneticsAutosomal recessive · EMP2 (chr 16)

OnsetCHILDHOOD

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 Minimal change glomerulonephritis; and sometimes findings: Steroid-resistant nephrotic syndrome. 4 total HPO annotations.

Organ System	Phenotype Count	Example Features
Kidneys and urinary system	3	Nephrotic syndrome, Steroid-resistant nephrotic syndrome, Minimal change glomerulonephritis

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.

EMP2 encodes epithelial membrane protein 2 (167 aa). Functions as a key regulator of cell membrane composition by regulating protein surface expression. Highest expression in Lung (271.7 TPM) and Skin Not Sun Exposed Suprapubic (123.1 TPM).

Nephrotic syndrome, type 10 is associated with mutations in the EMP2 gene on chromosome 16.

EMP2 is classified as a druggable target (Cell Surface category) with score 8.7.

Diagnosis

Genetic testing for EMP2 is available. Testing is considered confirmatory for diagnosis.

Biomarker and diagnostic research for nephrotic syndrome, type 10 has been reported in the published literature.

Prognosis

Phenotype severity distribution: 2 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 10.

60 publications have been identified in PubMed for nephrotic syndrome, type 10. Research spans Case Report / Case Series (30%), Epidemiology / Natural History (25%), and Basic Science / Preclinical (15%).

Research Type	Count	% of Total
Patient case studies	18	30%

Data assembled from 5 of 12 sources · Last updated Sep 20, 2026, 1:12 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:615861

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 10

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

OMIM

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Recent Publications

nephrotic syndrome, type 10

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

OMIM

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Recent Publications