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All Diseases > PTEN Hamartoma Tumor Syndrome
PTEN Hamartoma Tumor Syndrome (PHTS)
Disease Category: Developmental Synaptopathies
A spectrum of disorders caused by mutations in the PTEN gene which typically suppresses tumors in germline (egg or sperm) cells. The hallmark characteristic of the disorder is the widespread presence of multiple hamartomas (localized, benign, tumor-like malformations) which contain a mixture of mature cells and tissue. Affected individuals may have an increased risk for certain cancers and neurodevelopmental disorders.
Research groups studying this disease
Developmental Synaptopathies Consortium (DSC)View Disease Definition
PTEN Hamartoma Tumor Syndrome Foundation
Funds research, provides education, and supports those affected by PTEN hamartoma tumor syndrome (PHTS).
PTEN Research Foundation Ltd
Funds and facilitates global research that will lead to new and better treatments for PTEN hamartoma tumor syndrome.