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GTR Home > Conditions/Phenotypes > Nephronophthisis 20

Nephronophthisis 20

Summary

Nephronophthisis-20 (NPHP20) is an autosomal recessive tubulointerstitial nephritis characterized by progressive renal fibrosis resulting in end-stage renal failure. The age at onset is relatively late compared to other forms of NPHP, and patients develop end-stage renal disease in the second or third decades. Unlike most other forms of NPHP, NPHP20 does not have features of a ciliopathy and patients do not appear to have extrarenal manifestations (summary by Macia et al., 2017). For a general phenotypic description and a discussion of genetic heterogeneity of nephronophthisis, see NPHP1 (256100). [from OMIM]

Available tests

17 tests are in the database for this condition.

Clinical tests (17 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: JNKBP-1, JNKBP1, NPHP20, MAPKBP1
    Summary: mitogen-activated protein kinase binding protein 1

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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