Diseases Studied
The Rare Diseases Clinical Research Network is an NIH-funded research network of 20 active consortia or research groups working to advance treatment for diseases that are rare. Use the search tools on this page to find the diseases we currently study. You can reach out to the indicated consortia or research groups for more information on those diseases and studies underway.
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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
Developmental Synaptopathies Consortium (DSC)
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.