Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders

X-linked recessive hypophosphatemic rickets

X-linked recessive hypophosphatemic rickets is caused by mutation in the CLCN5 and maybe also OCRL gene. The clinical picture is similar to Dent disease with major emphasis on phosphate and bone metabolism.

Systematic

Fanconi-type hypophosphatemic rickets
Nephrolithiasis/osteoporosis, hypophosphatemic, 1
X-linked recessive hypophosphatemic rickets
CLCN5
OCRL

References:

1.

Bolino A et al. (1993) Genetic mapping in the Xp11.2 region of a new form of X-linked hypophosphatemic rickets.

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2.

Lloyd SE et al. (1996) A common molecular basis for three inherited kidney stone diseases.

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3.

Oudet C et al. (1997) A second family with XLRH displays the mutation S244L in the CLCN5 gene.

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4.

None (1998) X-linked hypercalciuric nephrolithiasis: clinical syndromes and chloride channel mutations.

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5.

Gambaro G et al. (2004) Genetics of hypercalciuria and calcium nephrolithiasis: from the rare monogenic to the common polygenic forms.

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6.

OMIM.ORG article

Omim 300554 [^]
Update: April 29, 2019