PTEN hamartoma tumor syndrome
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.
MONDO:0019300
obsolete rare skin tumor or hamartoma (obsolete MONDO:0019300)
excluded_subClassOf
MONDO:0000426
autosomal dominant disease
is_a
MONDO:0015356
hereditary neoplastic syndrome
is_a
MONDO:0019755
developmental defect during embryogenesis
is_a
PHTS
exact
PTEN hamartoma tumor syndrome
exact
PTEN-related Hamartoma tumor syndrome
exact
SPAC22E12.14c SPAC1B9.02c SPCC24B10.07 SPBC609.02