Cowden disease
MONDO:0016063A genodermatosis characterized by the presence of multiple hamartomas in various tissues and an increased risk for malignancies of the breast, thyroid, endometrium, kidney and colorectum. When CS is accompanied by germline PTEN mutations, it belongs to the PTEN hamartoma tumor syndrome (PHTS) group.
Also known as: Cowden disease, Cowden syndrome, Cowden's disease, multiple hamartoma syndrome, CD, MHAM, dysplastic gangliocytoma of cerebellum
11 clinical trials for this condition and its sub-types.
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Broader categories
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Can a video-based therapy tame tough behaviors in kids with rare genetic disorders?
Symptom relief OngoingThis study tests a virtual behavioral therapy (Functional Behavioral Training) for children aged 2-12 with genetic syndromes like Fragile X, Angelman, or Rett syndrome who have challenging behaviors. The therapy teaches parents how to identify what triggers problem behaviors and …
Phase: NA • Sponsor: Rush University Medical Center • Aim: Symptom relief
Last updated Jul 15, 2026 00:00 UTC
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Can a gene mutation explain Autism's many faces?
Knowledge-focused OngoingThis study follows individuals with autism who carry a PTEN gene mutation, along with comparison groups, to track changes in thinking, language, and behavior over time. Researchers will also collect blood samples and medical data to build a large database for future studies. The …
Sponsor: Boston Children's Hospital • Aim: Knowledge-focused
Last updated Aug 08, 2026 00:03 UTC
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New study tracks cancer risk in rare genetic condition
Knowledge-focused TerminatedThis study follows 430 people with Cowden's disease (a PTEN gene mutation) to better understand their risk of developing cancer. Researchers will track how many participants get cancer over time. The goal is to improve monitoring and care for this high-risk group.
Sponsor: Institut Bergonié • Aim: Knowledge-focused
Last updated Jun 27, 2026 12:32 UTC