{"id":27125,"date":"2024-05-26T13:20:44","date_gmt":"2024-05-26T11:20:44","guid":{"rendered":"https:\/\/www.krebs-praedisposition.de\/?post_type=kompendium&p=27125"},"modified":"2025-08-26T12:36:38","modified_gmt":"2025-08-26T10:36:38","slug":"olliers-disease-and-maffucci-syndrome","status":"publish","type":"kompendium","link":"https:\/\/www.krebs-praedisposition.de\/en\/kompendium\/olliers-disease-and-maffucci-syndrome\/","title":{"rendered":"Ollier’s Disease and Maffucci Syndrome"},"content":{"rendered":"

Ollier’s Disease and Maffucci Syndrome \u2013\u00a0Definition<\/h2><\/div>
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Ollier disease (OD, OMIM #166000) and Maffucci syndrome (MS, OMIM #614569) are enchondromatoses associated with a pathogenic variant in the IDH1<\/em> or IDH 2 <\/em>gene. The two diseases differ in the additional presence of multiple soft tissue hemangiomas or lymphangiomas in Maffucci syndrome. What they have in common is a tendency to malignant degeneration into chondrosarcomas. Affected patients also have an increased risk of developing other tumors, such as brain tumors or visceral tumors.<\/p>\n<\/div>

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

Multiple Enchondromatosis, Hemienchondromatosis<\/p>\n<\/div><\/div><\/div><\/div>

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

IDH1<\/em> and IDH2 <\/i>gene<\/p>\n<\/div><\/div><\/div><\/div>

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Gen\u00ade product:<\/p>\n<\/div><\/div><\/div>

Isocitrate-dehydrogenase 1+2<\/p>\n<\/div><\/div><\/div><\/div>

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

Decrease in D-2-hydroxyglutarate (D-2-HG), an oncometabolite that accumulates in the cell when its breakdown is reduced and, together with other risk factors, can promote cancer development.<\/p>\n<\/div><\/div><\/div><\/div>

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

Mosaicism in somatic pathogenic variant<\/p>\n<\/div><\/div><\/div><\/div>

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

For M. Ollier 1:100,000, Maffucci syndrome <200 cases known worldwide (as of 09\/22)<\/p>\n<\/div><\/div><\/div><\/div>

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

Unknown<\/p>\n<\/div><\/div><\/div><\/div>

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

Unknown<\/p>\n<\/div><\/div><\/div><\/div><\/div><\/div>

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