Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders
Moldiag Diseases Genes Support Contact

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.

external link
2.

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

external link
3.

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

external link
4.

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

external link
5.

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

external link
6.

OMIM.ORG article

Omim 300554 external link
Update: Aug. 14, 2020
Copyright © 2005-2024 by Center for Nephrology and Metabolic Disorders, Dr. Mato Nagel, MD
Albert-Schweitzer-Ring 32, D-02943 Weißwasser, Germany, Tel.: +49-3576-287922, Fax: +49-3576-287944
Sitemap | Webmail | Disclaimer | Privacy Issues | Website Credits