Disease_Has_Molecular_Abnormality Disease_May_Have_Associated_Disease Disease_Has_Associated_Disease Disease_Mapped_To_Gene PTEN Gene Mutation PTEN Hamartoma Tumor Syndrome PHTS PTEN Hamartoma Tumor Syndrome C1959582 PTEN Hamartoma Tumor Syndrome C179915 A rare, autosomal dominant hereditary syndrome caused by germline mutation in the PTEN gene. It manifests with macrocephaly, neurocognitive deficits, hamartomas in multiple locations, polyposis, vascular abnormalities, and an increased risk of developing malignant tumors, particularly breast, thyroid, and endometrial carcinoma. Disease or Syndrome PTEN Gene Hamartoma Hereditary Neoplastic Syndrome Vascular Disorder Macrocephaly Polyposis Breast Carcinoma Differentiated Thyroid Gland Carcinoma Endometrial Carcinoma