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GTR Home > Conditions/Phenotypes > X-linked recessive nephrolithiasis with renal failure

X-linked recessive nephrolithiasis with renal failure

Synonyms
NEPHROLITHIASIS 1; NEPHROLITHIASIS, X-LINKED RECESSIVE, TYPE 1; UROLITHIASIS, X-LINKED RECESSIVE, TYPE 1

Summary

X-linked recessive nephrolithiasis with renal failure (XRN) is a form of X-linked hypercalciuric nephrolithiasis, which comprises a group of disorders characterized by proximal renal tubular reabsorptive failure, hypercalciuria, nephrolithiasis, and renal insufficiency. These disorders have also been referred to as the 'Dent disease complex' (Scheinman, 1998; Gambaro et al., 2004). For a general discussion of Dent disease, see 300009. [from OMIM]

Available tests

34 tests are in the database for this condition.

Clinical tests (33 available)

Molecular Genetics Tests

Research tests

Genes See tests for all associated and related genes

  • Also known as: CLC5, CLCK2, ClC-5, DENT1, DENTS, NPHL1, NPHL2, XLRH, XRN, hCIC-K2, CLCN5
    Summary: chloride voltage-gated channel 5

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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