@entity1911 and XXXX .

@entity17876 @entity1 @entity5733 @entity1911 @entity5 @entity4588 @entity6533 @entity33684 @entity1264 @entity519 @entity13081 @entity3 @entity12226 @entity1823 @entity280 @entity33683
OBJECTIVE: @entity1911 ( @entity1911 ) and @entity1823 ( @entity1823 ) are neural crest cell @entity5 associated with @entity5733 production and assessed by a @entity6533 / @entity17876 measurement. This review summarizes the genetics of these @entity5 . METHODS: Case presentation, review of the relevant literature, and bullet point conclusions. RESULTS: Genetic research over the past 10 years has led to a better understanding of the pathogenesis of these @entity5 , currently associated with 20 susceptibility genes (both somatic and germ-line mutations). Although most of these genes can be divided into two clusters (clusters 1 and 2), recent data suggest that all mutations converge on the @entity519 -inducible factor signaling pathway. Most of the susceptibility genes are well characterized and associated with specific clinical presentations, including biochemical phenotype, @entity5 location and behavior, as well as @entity5 or similar characteristics. Correct and early detection of hereditary PHEO/ @entity1823 is paramount, as early diagnosis leads to improved and focused treatment, along with better outcomes. However, missed or delayed diagnosis of hereditary PHEO/ @entity1823 forestalls proper treatment and results in multiple, recurrent, or @entity3 and avoidable complications in some @entity1 . CONCLUSION: Early diagnosis allows prompt screening for potentially lethal @entity5 associated with specific gene mutations and makes genetic testing more readily available to first-degree and other relatives of an index @entity1 . Thus, understanding the genetics of these @entity5 is an essential part of endocrinology. ABBREVIATIONS: HIF2A = @entity519 -inducible factor 2a MAX = Myc-associated factor X MEN2 = @entity13081 NF1 = @entity1264 @entity1823 = @entity1823 PHEO = @entity1911 @entity33683 = @entity4588 dehydrogenase complex assemble factor 2 @entity33684 = transmembrane protein 127 @entity12226 = @entity280 .
