PTEN hamartoma tumor syndrome
PTEN hamartoma tumor syndrome
Definition
An autosomal dominant syndrome caused by pathogenic variants in the PTEN gene, characterized by hamartomas, overgrowth, neurodevelopmental disorders and an increased risk of various cancers, including breast, thyroid, and endometrial cancer. PHTS encompasses Cowden syndrome, Bannayan-Riley-Ruvalcaba syndrome, and Proteus-like syndrome.
Also known as PHTS, PTEN hamartoma tumor syndrome, PTEN-related Hamartoma tumor syndrome — per MONDO