Papillorenal syndrome epidemiology and demographics: Difference between revisions
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{{CMG}} {{AE}} {{Shivam Singla}} | |||
==Overview== | ==Overview== | ||
The Prevalence of the disease and the prevalence at birth is still unknown. In a study conducted in 90 families, they found 177 mutation-positive cases. The number of individuals with mutation-negative is not known in that study. The conclusion derived showed no ethnic predilection for the disease. The major component found in the causation of RCS is PAX2 gene (10q24) in half of the patients with renal and optic nerve abnormalities. | The [[Prevalence]] of the [[disease]] and the [[prevalence]] at birth is still unknown. In a study conducted in 90 families, they found 177 [[mutation]]-positive cases. The number of individuals with mutation-negative is not known in that [[study]]. The [[conclusion]] derived showed no ethnic predilection for the [[disease]]. The major component found in the causation of RCS is [[PAX2]] gene (10q24) in half of the [[patients]] with [[renal]] and [[optic nerve]] abnormalities. | ||
__NOTOC__ | __NOTOC__ | ||
{{Papillorenal syndrome}} | {{Papillorenal syndrome}} | ||
==Epidemiology and Demographics== | ==Epidemiology and Demographics== | ||
*The Prevalence of the disease and the prevalence at birth is still unknown. | *The [[Prevalence]]<ref name="urlwww.orpha.net">{{cite web |url=https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1475 |title=www.orpha.net |format= |work= |accessdate=}}</ref> of the [[disease]] and the [[prevalence]] at birth is still unknown. | ||
*In a study conducted in 90 families they found 177 mutation-positive cases. The number of individuals with mutation negative is not known in that study. The conclusion derived showed no ethnic predilection for the disease. | *In a study conducted in 90 families, they found 177 [[mutation]]-positive cases. The number of individuals with [[mutation]]-negative is not known in that [study]]. The conclusion derived showed no ethnic predilection for the [[disease]]. | ||
*The major component found in the causation of RCS is PAX2 gene (10q24) in half of the patients with renal and optic nerve abnormalities | *The major component found in the causation of RCS is the [[PAX2]] [[gene]] (10q24) in half of the [[patients]] with [[renal]] and [[optic nerve]] abnormalities. | ||
==References== | ==References== | ||
Latest revision as of 14:42, 10 September 2020
Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1] Associate Editor(s)-in-Chief: Shivam Singla, M.D.[2]
Overview
The Prevalence of the disease and the prevalence at birth is still unknown. In a study conducted in 90 families, they found 177 mutation-positive cases. The number of individuals with mutation-negative is not known in that study. The conclusion derived showed no ethnic predilection for the disease. The major component found in the causation of RCS is PAX2 gene (10q24) in half of the patients with renal and optic nerve abnormalities.
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Epidemiology and Demographics
- The Prevalence[1] of the disease and the prevalence at birth is still unknown.
- In a study conducted in 90 families, they found 177 mutation-positive cases. The number of individuals with mutation-negative is not known in that [study]]. The conclusion derived showed no ethnic predilection for the disease.
- The major component found in the causation of RCS is the PAX2 gene (10q24) in half of the patients with renal and optic nerve abnormalities.