{"id":27100,"date":"2024-05-26T12:21:16","date_gmt":"2024-05-26T10:21:16","guid":{"rendered":"https:\/\/www.krebs-praedisposition.de\/?post_type=kompendium&p=27100"},"modified":"2025-08-26T10:50:21","modified_gmt":"2025-08-26T08:50:21","slug":"costello-syndrome","status":"publish","type":"kompendium","link":"https:\/\/www.krebs-praedisposition.de\/en\/kompendium\/costello-syndrome\/","title":{"rendered":"Costello Syndrome"},"content":{"rendered":"

Costello Syndrome \u2013\u00a0Definition<\/h2><\/div>
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Costello syndrome (OMIM #218040) is an autosomal-dominant, hereditary developmental disorder with a distinct phenotype (see the clinical features) and a greatly increased risk of cancer.<\/p>\n<\/div>

Synonyms:<\/p>\n<\/div><\/div><\/div>

–<\/p>\n<\/div><\/div><\/div><\/div>

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Genes:<\/p>\n<\/div><\/div><\/div>

HRAS<\/i><\/p>\n<\/div><\/div><\/div><\/div>

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Gene \u00adproduct:<\/p>\n<\/div><\/div><\/div>

HRAS<\/p>\n<\/div><\/div><\/div><\/div>

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Function:<\/p>\n<\/div><\/div><\/div>

Ras signaling pathway<\/p>\n<\/div><\/div><\/div><\/div>

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Heredity:<\/p>\n<\/div><\/div><\/div>

Autosomal dominant<\/p>\n<\/div><\/div><\/div><\/div>

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Prevalence:<\/p>\n<\/div><\/div><\/div>

Rare<\/p>\n<\/div><\/div><\/div><\/div>

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Genotype-phenotype correlation:<\/p>\n<\/div><\/div><\/div>

The pathogenic variant G12A-HRAS<\/em> appears to be associated with the highest risk of cancer.<\/p>\n<\/div><\/div><\/div><\/div>

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Penetrance:<\/p>\n<\/div><\/div><\/div>

100% (for to the syndrome as opposed to developing the neoplasia)<\/p>\n<\/div><\/div><\/div><\/div><\/div><\/div>

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Overview of the Chapters on This Page:<\/h4><\/div><\/div><\/div>