DISEASES

Disease-gene associations mined from literature

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 ...

Linkouts:  OMIM #1 #2 #3 #4 #5 #6