Enchondromatosis, Multiple, Ollier Type (ENCHOM)

Enchondromatosis, Multiple, Ollier Type(来自ICD-11)

别称:

Ollier Disease

Enchondromatosis

Dyschondroplasia

Osteochondromatosis

Enchondromatosis with Haemangiomata

Multiple Cartilaginous Enchondroses

Hereditary Multiple Exostoses

Enchondromatosis, Multiple

Multiple Enchondromatosis

Enchondromatosis Multiple

Ollier's Syndrome

Maffucci Disease

Kast's Syndrome

Olliers Disease

Chondromatosis

Enchom

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Basic Information

Medical Symptom

Gene & Mutation

Related Drugs

Disease Model

References Literature

Enchondromatosis, Multiple, Ollier Type, also known as ollier disease, is related to exostoses, multiple, type i and hereditary multiple osteochondromas, and has symptoms including pain An important gene associated with Enchondromatosis, Multiple, Ollier Type is IDH1 (Isocitrate Dehydrogenase (NADP(+)) 1), and among its related pathways/superpathways are Signal Transduction and Presynaptic function of Kainate receptors. The drug Isotretinoin has been mentioned in the context of this disorder. Affiliated tissues include bone and liver, and related phenotypes are hemangioma and micromelia

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