PTEN hamartoma tumor syndrome

MONDO:0017623

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.

Also known as: PHTS, PTEN hamartoma tumor syndrome, PTEN-related Hamartoma tumor syndrome

39 clinical trials for this condition and its sub-types, 6 tagged with PTEN hamartoma tumor syndrome itself.

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Where it sits in the disease tree

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Part of

↑ Developmental defect during embryogenesis (1060) ↑ Hereditary neoplastic syndrome (731) ↑ Autosomal dominant disease (699)

Sub-types of PTEN hamartoma tumor syndrome

Proteus syndrome 2 trials
Bannayan-Riley-Ruvalcaba syndrome 1 trial
Proteus-like syndrome 0 trials
Segmental outgrowth-lipomatosis-arteriovenous malformation-epidermal nevus syndrome 0 trials

Including sub-types (39) Tagged with PTEN hamartoma tumor syndrome (6)

Trials to join now! 3 Not yet recruiting 1 Not yet finished but already full! 1 Completed 1

Could a cancer drug boost social abilities in rare genetic condition?

Disease control Not yet recruiting

This study tests whether everolimus, a drug already approved for other conditions, can safely improve social abilities in people with PTEN Hamartoma Tumor Syndrome (PHTS). About 60 adults and children with PHTS and social difficulties will take either everolimus or a placebo for …

Phase 2/3 • Sponsor: Boston Children's Hospital • Aim: Disease control

Last updated Jun 27, 2026 13:03 UTC

PTEN hamartoma tumor syndrome

Where it sits in the disease tree

Could a cancer drug boost social abilities in rare genetic condition?