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GTR Home > Conditions/Phenotypes > Nephrotic syndrome, type 9

Nephrotic syndrome, type 9

Summary

Nephrotic syndrome type 9 (NPHS9) is an autosomal recessive chronic kidney disorder characterized by significant proteinuria resulting in hypoalbuminemia and edema. Onset is in the first or second decade of life. The disorder is steroid treatment-resistant and usually progresses to end-stage renal disease requiring transplantation. Renal biopsy shows focal segmental glomerulosclerosis (FSGS) or collapsing FSGS (summary by Ashraf et al., 2013). For a general phenotypic description and a discussion of genetic heterogeneity of nephrotic syndrome and FSGS, see NPHS1 (256300). [from OMIM]

Available tests

32 tests are in the database for this condition.

Clinical tests (32 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: ADCK4, NPHS9, COQ8B
    Summary: coenzyme Q8B

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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