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nephrotic syndrome, type 6 - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

nephrotic syndrome, type 6

MONDO:0013619

Also known as:PTPRO nephrotic syndromenephrotic syndrome caused by mutation in PTPRONPHS6

Overview

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

GeneticsAutosomal recessive · PTPRO (chr 12)

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, Edema, Hypoalbuminemia, and Protein in the urine (proteinuria); and common findings: Tubulointerstitial fibrosis, Focal segmental glomerulosclerosis, and Minimal change glomerulonephritis. 8 total HPO annotations.

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

Genetic Landscape

PTPRO function has not been fully characterized.

Nephrotic syndrome, type 6 is associated with mutations in the PTPRO gene on chromosome 12.

Diagnosis

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

Prognosis

Phenotype severity distribution: 4 always present features, 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 6.

69 publications have been identified in PubMed for nephrotic syndrome, type 6. Research spans Case Report / Case Series (38%), Clinical Trial Publication (19%), and Basic Science / Preclinical (17%).

Research Type	Count	% of Total
Patient case studies	26	38%

Data assembled from 5 of 12 sources · Last updated Sep 19, 2026, 12:50 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:614196

GARD

Genetic and Rare Diseases Info Center

GARD:15770

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 6

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 6

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