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.
Comprehensive, easy-to-understand information about this condition
Checking for content...
Patient Advocacy Groups (PAGs) provide support, resources, and community for patients and caregivers.
mosaic variegated aneuploidy syndrome
MONDO:0000141
autosomal dominant polycystic liver disease
MONDO:0000447
tuberous sclerosis
MONDO:0001734
Treacher-Collins syndrome
MONDO:0002457
hereditary breast ovarian cancer syndrome
MONDO:0003582
autosomal dominant polycystic kidney disease
MONDO:0004691