Dent Disease 2

Common Name(s)

Dent Disease 2

Description for this condition is not yet available.
 

Advocacy and Support Organizations

 

Condition Specific Organizations

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Dent Disease 2" for support, advocacy or research.

There are currently no organizations listed in Disease InfoSearch that support this condition. Create a listing.

 

 

General Support Organizations

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Scientific Literature

Articles from the PubMed Database

Research articles describe the outcome of a single study. They are the published results of original research.
The terms "Dent Disease 2" returned 3 free, full-text research articles on human participants. First 3 results:

Nephrotic-range Albuminuria as the presenting symptom of Dent-2 disease.
 

Author(s): Chiara De Mutiis, Andrea Pasini, Claudio La Scola, Fabrizio Pugliese, Giovanni Montini

Journal:

 

Dent disease is a rare X-linked tubulopathy with low molecular weight proteinuria, hypercalciuria, nephrolithiasis, nephrocalcinosis and progressive renal failure. We describe the case of a 9-year-old boy who presented with nephrotic-range albuminuria at the age of 3 years. In the ...

Last Updated: 25 Jun 2015

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OCRL-mutated fibroblasts from patients with Dent-2 disease exhibit INPP5B-independent phenotypic variability relatively to Lowe syndrome cells.
 

Author(s): Rodrick Montjean, Rifdat Aoidi, Pierrette Desbois, Julien Rucci, Michaël Trichet, Rémi Salomon, John Rendu, Julien Fauré, Joël Lunardi, Gérard Gacon, Pierre Billuart, Olivier Dorseuil

Journal: Hum. Mol. Genet.. 2015 Feb;24(4):994-1006.

 

OCRL mutations are associated with both Lowe syndrome and Dent-2 disease, two rare X-linked conditions. Lowe syndrome is an oculo-cerebro-renal disorder, whereas Dent-2 patients mainly present renal proximal tubulopathy. Loss of OCRL-1, a phosphoinositide-5-phosphatase, leads in Lowe ...

Last Updated: 26 Jan 2015

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

Author(s): Michael Ludwig, Elena Levtchenko, Arend Bökenkamp

Journal: Eur. J. Hum. Genet.. 2014 Nov;22(11):.

 

Last Updated: 16 Oct 2014

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Reviews from the PubMed Database

Review articles summarize what is currently known about a disease. They discuss research previously published by others.
The terms "Dent Disease 2" returned 0 free, full-text review articles on human participants.

 
 
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Symptoms, Diagnosis, and Treatment

There are currently no related results available in Genetics Home Reference.

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Clinical Trial Information This information is provided by ClinicalTrials.gov

Rare Kidney Stone Consortium Biobank
 

Status: Recruiting

Condition Summary: Primary Hyperoxaluria; Dent Disease; APRT Deficiency; Cystinuria

 

Last Updated: 5 Jul 2016

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Prospective Research Rare Kidney Stones (ProRKS)
 

Status: Recruiting

Condition Summary: Hyperoxaluria; Cystinuria; Dent Disease; Lowe Syndrome; Adenine Phosphoribosyltransferase Deficiency/APRT

 

Last Updated: 20 May 2016

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Rare Kidney Stone Consortium Patient Registry
 

Status: Recruiting

Condition Summary: Primary Hyperoxaluria; Dent Disease; Cystinuria; APRT Deficiency

 

Last Updated: 5 Jul 2016

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