Clinical utility gene card for: Dent disease (Dent-1 and Dent-2)
نویسندگان
چکیده
منابع مشابه
2 Dent ’ s Disease
Dent’s disease (MIM #300009) is a rare X-linked disorder characterized by various degrees of proximal tubular (PT) dysfunction, nephrocalcinosis and nephrolithiasis. The exact prevalence is unknown. The disease was first reported by Dent and Friedman, who described two males with vitamin D resistant rickets, hypercalciuria and low molecular weight proteinuria (LMWP) (Dent & Friedman, 1964). Bas...
متن کاملA boy with Dent-2 disease.
Dent-2 disease is an X-linked renal tubulopathy associated with mutations in OCRL gene. It is characterized by low-molecular weight proteinuria, hypercalciuria, nephrolithiasis/nephrocalcinosis and progressive renal failure. Patients may have some extra-renal symptoms of Lowe syndrome, such as peripheral cataracts, mental impairment, stunted growth or elevation of creatine kinase/lactate dehydr...
متن کاملDent Associates White Papers 11 - 01 David Dent , Dent Associates Ltd Brian Pettit , Chilworth Consultants Ltd
TRLs have the benefit of providing a common understanding of the status of a technology in its development pathway, a means of assessing and managing risk, and decision making concerning funding and implementation of technology. As with any management tool, there are certain limitations and disadvantages to its use. These include the creation of extra reporting, paperwork, reviews, lengthy adop...
متن کاملMouse model for Lowe syndrome/Dent Disease 2 renal tubulopathy.
The Lowe oculocerebrorenal syndrome is an X-linked disorder characterized by congenital cataracts, cognitive disability, and proximal tubular dysfunction. Both this syndrome and Dent Disease 2 result from loss-of-function mutations in the OCRL gene, which encodes a type II phosphatidylinositol bisphosphate 5-phosphatase. Ocrl-deficient mice are unaffected, however, which we believe reflects a d...
متن کاملRenal disease with OCRL1 mutations: Dent-2 or Lowe syndrome?
Dent disease is an X-linked tubulopathy, characterized by low molecular weight proteinuria, hypercalciuria, nephrocalcinosis and nephrolithiasis that may progress to advanced renal failure [1,2]. During the last decade, loss-of-function mutations of the CLCN5 gene, which is located in chromosome Xp11.22 and encodes the renal chloride/proton antiporter ClC-5, have been consistently reported in p...
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ژورنال
عنوان ژورنال: European Journal of Human Genetics
سال: 2014
ISSN: 1018-4813,1476-5438
DOI: 10.1038/ejhg.2014.33