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Difference between revisions of "Gaucher disease"
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'''Gaucher disease''' a [[lysosomal storage diseases|lysosomal storage disease]]. It is a rare thingy seen in people that marry their cousins. | '''Gaucher disease''' a [[lysosomal storage diseases|lysosomal storage disease]]. It is a rare thingy that may be seen in people that marry their cousins. | ||
==Pathology== | ==Pathology== | ||
*Accumulation of ''glucocerebroside'' in monocytes/macrophages due to deficiency of ''glucocerebrosidase''.<ref name=emedicine>URL: [http://emedicine.medscape.com/article/944157-overview http://emedicine.medscape.com/article/944157-overview]. Accessed on: 3 December 2010.</ref> | *Accumulation of ''glucocerebroside'' in monocytes/macrophages due to deficiency of ''glucocerebrosidase''.<ref name=emedicine>URL: [http://emedicine.medscape.com/article/944157-overview http://emedicine.medscape.com/article/944157-overview]. Accessed on: 3 December 2010.</ref> | ||
*Defect in ''acid beta-glucosidase'' gene (''GBA gene'').<ref name=omim230800>{{OMIM|230800}}</ref><ref name=omim230900>{{OMIM|230900}}</ref><ref name=omim231000>{{OMIM|231000}}</ref> | |||
===Subtypes=== | ===Subtypes=== | ||
*There are several | *There are several types - all are autosomal recessive.<ref name=emedicine/> | ||
Types:<ref name=Ref_PCPBoD8_95>{{Ref PCPBoD8|95}}</ref> | Types:<ref name=Ref_PCPBoD8_95>{{Ref PCPBoD8|95}}</ref> | ||