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GTR Home > Conditions/Phenotypes > Nephrotic syndrome, type 17

Nephrotic syndrome, type 17

Summary

Nephrotic syndrome type 17 (NPHS17), a disease of the renal glomerular filter, is characterized by proteinuria, edema, and hypoalbuminemia. It does not respond to drug treatment and inevitably progresses to end-stage renal disease, thus requiring dialysis or renal transplantation for survival. Renal histology shows focal segmental glomerulosclerosis (Braun et al., 2018). For a general phenotypic description and a discussion of genetic heterogeneity of nephrotic syndrome, see NPHS1 (256300). [from OMIM]

Available tests

4 tests are in the database for this condition.

Clinical tests (4 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: FROUNT, NPHS17, Nup75, NUP85
    Summary: nucleoporin 85

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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