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PTEN hamartoma tumor syndrome

MONDO:0017623

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

39 clinical trials for this condition and its sub-types, 6 tagged with PTEN hamartoma tumor syndrome itself.

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