Cowden syndrome

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Cowden syndrome

Synonyms: Cowden disease | Multiple hamartoma syndrome

A 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.

Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview.

Reference: Access aggregated data from Orphanet at Orphadata.

Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http://www.orphadata.org. Data version March 2024

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Cowden syndrome?

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Advocacy Organizations

Cache DNA

At Cache, we are on a mission to store the biomolecules of today in order to unlock the possibilities of tomorrow. Our vision is to create a scalable, sustainable, and standardized platform for reliable storage and access of biomolecules by combining chemistry, biology, automation, and computational tools to support patient advocacy groups worldwide and better connect samples to insights.

My Faulty Gene

My Faulty Gene is a nonprofit organization which provides information and assistance to any individual whose family medical history suggests genetic testing might be helpful in identifying an increased risk of disease due to a genetic mutation. We believe that everyone in need of genetic testing should have access to it.

My Little Sunshine Foundation

My Little Sunshine is a non-profit foundation dedicated to educating people about the importance of fertility preservation and making fertility resources accessible to all.

PTEN UK and Ireland Patient Group

The patient group’s purpose is to improve the lives of patients, parents and carers of all ages, in the United Kingdom and Ireland, who are affected by PTEN genetic alteration through better patient support, increased awareness, more accurate and accessible information, earlier diagnosis and and intervention, greater research into treatment and prevention, and improved coordination of care.

SALUS

Educate and provide resources to POC with Rare Cancers

Clinical Trials

For a list of clinical trials in this disease area, please click here.