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GTR Home > Conditions/Phenotypes > Hypophosphatemic rickets, X-linked recessive

Hypophosphatemic rickets, X-linked recessive

Synonyms
Rickets, hypophosphataemic

Summary

X-linked recessive hypophosphatemic rickets (XLHRR) is a form of X-linked hypercalciuric nephrolithiasis, which comprises a group of disorders characterized by proximal renal tubular reabsorptive failure, hypercalciuria, nephrocalcinosis, 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

38 tests are in the database for this condition.

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Clinical tests (37 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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