Human genes for Cowden disease
Cowden disease [DOID:6457]
An autosomal dominant disease characterized by multiple noncancerous, tumor-like growths (hamartomas) and an increased risk of certain forms of cancer, especially breast, thyroid and endometrium. It is caused by mutations in the PTEN, SDHB, SDHD and KLLN genes.
Synonyms: Cowden disease, Cowden disorder, Cowden syndrome, DOID:6457, dysplastic Gangliocytoma of Cerebellum ...