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GTR Home > Conditions/Phenotypes > Nephronophthisis-like nephropathy 2

Nephronophthisis-like nephropathy 2

Summary

Nephronophthisis-like nephropathy-2 (NPHPL2) is an autosomal recessive cystic kidney disease characterized by onset of progressive renal insufficiency in the first decades of life. Renal imaging and biopsy show corticomedullary cysts, tubular ectasia, tubular basement membrane disruption, and tubulointerstitial infiltrations. Patients eventually progress to end-stage renal failure, necessitating kidney transplantation or dialysis (summary by Hurd et al., 2013). For a general phenotypic description and a discussion of genetic heterogeneity of nephronophthisis, see NPHP1 (256100). [from OMIM]

Available tests

2 tests are in the database for this condition.

Clinical tests (2 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: MgtE, NPHPL2, SLC41A1
    Summary: solute carrier family 41 member 1

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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