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GTR Home > Conditions/Phenotypes > Nephrotic syndrome, type 22

Nephrotic syndrome, type 22

Summary

Nephrotic syndrome type 22 (NPHS22) is an autosomal recessive renal disease characterized by onset of progressive kidney dysfunction in infancy. Affected individuals usually present with edema associated with hypoproteinemia, proteinuria, and microscopic hematuria. Renal biopsy shows effacement of the podocyte foot processes, glomerulosclerosis, and thickening of the glomerular basement membrane. The disease is steroid-resistant and progressive, resulting in end-stage renal disease usually necessitating kidney transplant (Majmundar et al., 2021). For a general phenotypic description and a discussion of genetic heterogeneity of nephrotic syndrome, see NPHS1 (256300). [from OMIM]

Genes See tests for all associated and related genes

  • Also known as: 6330408P19Rik, CAPON, NPHS22, NOS1AP
    Summary: nitric oxide synthase 1 adaptor protein

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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