Cowden Syndrome (CD)

Cowden Syndrome, also known as cowden disease, is related to cowden syndrome 1 and cowden syndrome 4, and has symptoms including seizures, action tremor and cerebellar ataxia. An important gene associated with Cowden Syndrome is PTEN (Phosphatase And Tensin Homolog), and among its related pathways/superpathways are Signal Transduction and Prolactin Signaling. The drugs Everolimus and Temsirolimus have been mentioned in the context of this disorder. Affiliated tissues include thyroid and breast, and related phenotypes are generalized hyperkeratosis and palmoplantar keratoderma