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ENMultiple Enchondromatosis, Maffucci Type
Alias:
Maffucci Syndrome
Dyschondroplasia and Cavernous Hemangioma
Multiple Angiomas and Endochondromas
Enchondromatosis with Hemangiomata
Hemangiomata with Dyschondroplasia
Hemangiomatosis Chondrodystrophica
Chondrodysplasia with Hemangioma
Chondroplasia Angiomatosis
Kast Syndrome
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Multiple Enchondromatosis, Maffucci Type, also known as maffucci syndrome, is related to enchondroma and hemangioma. An important gene associated with Multiple Enchondromatosis, Maffucci Type is IDH1 (Isocitrate Dehydrogenase (NADP(+)) 1), and among its related pathways/superpathways are Signal Transduction and Presynaptic function of Kainate receptors. Affiliated tissues include bone and skin, and related phenotypes are venous thrombosis and multiple enchondromatosis
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