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Up to: Developmental defect during embryogenesis · Hereditary neoplastic syndrome · Autosomal dominant disease
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.
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Proteus syndrome 2 trials
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Proteus-like syndrome 0 trials