Disease

Multiple Hamartoma Syndrome

About the Disease
Cowden Syndrome 1, also known as bannayan-riley-ruvalcaba syndrome, is related to cowden syndrome and juvenile polyposis syndrome, and has symptoms including seizures, action tremor and cerebellar ataxia. An important gene associated with Cowden Syndrome 1 is PTEN (Phosphatase And Tensin Homolog), and among its related pathways/superpathways are ERK Signaling and Disease. The drugs Everolimus and Miconazole have been mentioned in the context of this disorder. Affiliated tissues include cerebellum, thyroid and skin, and related phenotypes are macrocephaly and nausea and vomiting

Common Targets
PIK3CA | G1956 | SEC23B | SDHB | KLLN | AKT2 | SDHD | USF3 | CHEK2 | AKT3 | G5728 | G207 | RASAL1

疾病靶点研报
Multiple Hamartoma Syndrome

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