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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.

This network focuses on clinical research and does not generally support clinical care outside of research activities. To learn about other rare diseases, please visit the Genetic and Rare Diseases Information Center (GARD), which is an NIH program that helps the public find reliable information about rare and genetic diseases. Their staff are specialists. Contact them at 1-888-205-2311 or email

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
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Developmental Synaptopathies Consortium (DSC)

Funds research, provides education, and supports those affected by PTEN hamartoma tumor syndrome (PHTS).

Funds and facilitates global research that will lead to new and better treatments for PTEN hamartoma tumor syndrome.