{"id":27176,"date":"2024-05-26T16:13:32","date_gmt":"2024-05-26T14:13:32","guid":{"rendered":"https:\/\/www.krebs-praedisposition.de\/?post_type=kompendium&p=27176"},"modified":"2025-08-27T10:26:02","modified_gmt":"2025-08-27T08:26:02","slug":"simpson-golabi-behmel-syndrome","status":"publish","type":"kompendium","link":"https:\/\/www.krebs-praedisposition.de\/en\/kompendium\/simpson-golabi-behmel-syndrome\/","title":{"rendered":"Simpson-Golabi-Behmel Syndrome"},"content":{"rendered":"

Simpson-Golabi-Behmel Syndrome \u2013\u00a0Definition<\/h2><\/div>
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Simpson-Golabi-Behmel syndrome (SGBS, OMIM #312870) is an X-linked macrosomia syndrome associated with malformations, reduced intelligence, and an increased risk of developing tumors.<\/p>\n<\/div>

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

–<\/p>\n<\/div><\/div><\/div><\/div>

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

GPC3<\/em> and GPC4 <\/i>(not all genes known yet)<\/p>\n<\/div><\/div><\/div><\/div>

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Gene \u00adproducts:<\/p>\n<\/div><\/div><\/div>

Glypican-3 (GPC3) and Glypican-4 (GPC4)<\/p>\n<\/div><\/div><\/div><\/div>

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

GPC3 and GPC4 are cell-surface-bound proteoglycans<\/p>\n<\/div><\/div><\/div><\/div>

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Pattern of inheritance:<\/p>\n<\/div><\/div><\/div>

X-chromosomal<\/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>

Involved are loss-of-function mutations without a known correlation.<\/p>\n<\/div><\/div><\/div><\/div>

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

Presumably complete in male carriers of the pathogenic variant. Rarely, female carriers of the pathogenic variant may also be affected.<\/p>\n<\/div><\/div><\/div><\/div><\/div><\/div>

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