Papillorenal syndrome epidemiology and demographics: Difference between revisions
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==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 the 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== | ||
Revision as of 01:37, 6 September 2020
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.