European Journal of Human Genetics - Clinical utility gene card for: Dent disease (Dent-1 and Dent-2)

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European Journal of Human Genetics - Clinical utility gene card for: Dent disease (Dent-1 and Dent-2)

Clinical Utility Gene Card

European Journal of Human Genetics advance online publication 12 March 2014; doi: 10.1038/ejhg.2014.33

Clinical utility gene card for: Dent disease (Dent-1 and Dent-2)

Michael Ludwig¹, Elena Levtchenko² and Arend Bökenkamp³

1. ¹Institute for Clinical Chemistry and Clinical Pharmacology, Bonn University Medical Center, Bonn, Germany
2. ²Department of Pediatric Nephrology and Growth and Regeneration, University Hospitals Leuven, Katholieke Universiteit Leuven, Leuven, Belgium
3. ³Department of Pediatric Nephrology, VU University Medical Center, Amsterdam, The Netherlands

Correspondence: Professor M Ludwig, Institute for Clinical Chemistry and Clinical Pharmacology, Bonn University Medical Center, Sigmund-Freud-Strasse 25, Bonn, Germany. Tel: +49 228 6885418; Fax: +49 228 6885401; E-mail: mludwig@uni-bonn.de

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DISEASE CHARACTERISTICS

1.1 Name of the disease (synonyms)

Dent-1 disease.

X-linked recessive hypophosphatemic rickets, X-linked recessive nephrolithiasis, low-molecular-weight proteinuria with hypercalciuric nephrocalcinosis, Dent’s Japan disease, Japanese Dent(‘s) disease, idiopathic low-molecular-weight proteinuria of Japanese children.

There is genetic heterogeneity: see also Dent-2 disease, which is caused by mutations in the OCRL gene.

1.2 OMIM# of the disease

Dent disease-1 (MIM #300009).

X-linked recessive hypophosphatemic rickets (MIM #300554).

X-linked recessive nephrolithiasis with renal failure (MIM #310468).

Low-molecular-weight proteinuria with hypercalciuric nephrocalcinosis (MIM#308990).

Dent-2 disease (MIM #300555).

1.3 Name of the analyzed genes or DNA/chromosome segments

CLCN5, Xp11.22-p11.23.

OCRL, Xq25-q26.1.