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GTR Home > Conditions/Phenotypes > Nephronophthisis 11

Nephronophthisis 11

Summary

Nephronophthisis-11 (NPHP11) is an autosomal recessive kidney disease characterized histologically by renal interstitial infiltration with fibrosis, tubular atrophy with basement membrane disruption, and cyst development at the corticomedullary border. Hepatic fibrosis is also present. The clinical presentation includes polyuria, polydipsia, anemia, and growth retardation. End-stage renal disease develops in the first or second decade of life (Otto et al., 2009). For a general phenotypic description and a discussion of genetic heterogeneity of NPHP, see NPHP1 (256100). [from OMIM]

Available tests

55 tests are in the database for this condition.

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Clinical tests (55 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: JBTS6, MECKELIN, MKS3, NPHP11, TNEM67, TMEM67
    Summary: transmembrane protein 67

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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