PTEN Deficiency

**Semantic type:** Laboratory or Test Result

**Definition:** A condition of decreased or absent presence or activity of phosphatidylinositol 3,4,5-trisphosphate 3-phosphatase and dual-specificity protein phosphatase PTEN, which is associated with multiple hamartoma syndrome (Cowden syndrome) and increased risk for development of several types of malignant cancers, including head and neck, breast, lung and prostate cancer and glioblastoma.

**Synonyms:** - MMAC1 Deficiency - Mutated in Multiple Advanced Cancers 1 Deficiency - PTEN Tyrosine Phosphatase Deficiency - PTEN1 Deficiency - Phosphatase and Tensin Homolog Deficiency - Phosphatidylinositol 3,4,5-Trisphosphate 3-Phosphatase and Dual-Specificity Protein Phosphatase PTEN Deficiency - TEP1 Deficiency