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Cowden syndrome 1

MONDO:0008021

Any Cowden disease in which the cause of the disease is a mutation in the PTEN gene.

Also known as: Cowden disease caused by mutation in PTEN, Cowden syndrome 1, Cowden syndrome type 1, Lhermitte-Duclos syndrome, PTEN Cowden disease, CS, CWS1, Lhermitte-Duclos disease

1 clinical trial for this condition and its sub-types.

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Broader categories

Disease (680) Hereditary disease (176) Skin disorder (132) Human disease (14) Cowden disease (11) Hereditary skin disorder (6) Disease of genetic or genomic mechanism (2) Autosomal dominant disease (0) Autosomal genetic disease (0) Disease by body system or component (0)
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  • Can a video-based therapy tame tough behaviors in kids with rare genetic disorders?

    Symptom relief Ongoing

    This 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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