National Center for Advancing and Translational Sciences Genetic and Rare Diseases Information Center, a program of the National Center for Advancing and Translational Sciences

PTEN hamartoma tumor syndrome

PTEN hamartoma tumor syndrome refers to a spectrum of conditions that are characterized by multiple hamartomas. These conditions include:
  • Cowden syndrome - associated with a high risk for benign and malignant (cancerous) tumors of the thyroid, breast, and uterus. Affected people may also have macrocephaly and characteristic skin abnormalities.
  • Bannayan-Riley-Ruvalcaba syndrome - characterized by macrocephaly (large head size), hamartomas of the intestines (called hamartomatous intestinal polyps), and dark freckles on the penis.
  • Proteus syndrome - characterized by overgrowth of the bones, skin, and other tissues.
  • Proteus-like syndrome - people with many of the signs and symptoms associated with Proteus syndrome, but who do not meet the diagnostic criteria.

PTEN hamartoma tumor syndrome is caused by changes (mutations) in the PTEN gene and is inherited in an autosomal dominant manner. Treatment is based on the signs and symptoms present in each person.[9723][1][2]
Last updated: 10/4/2015

This table lists symptoms that people with this disease may have. For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. This information comes from a database called the Human Phenotype Ontology (HPO) . The HPO collects information on symptoms that have been described in medical resources. The HPO is updated regularly. Use the HPO ID to access more in-depth information about a symptom.

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Medical Terms Other Names
Learn More:
HPO ID
80%-99% of people have these symptoms
Ganglioneuroma 0003005
Lipoma
Fatty lump
Noncancerous fatty lump
[ more ] 		0012032
Macrocephaly
Increased size of skull
Large head
Large head circumference
[ more ] 		0000256
Multiple trichilemmomata 0012846
Papilloma 0012740
Plantar pits 0010612
30%-79% of people have these symptoms
Autistic behavior 0000729
Breast carcinoma
Breast cancer
0003002
Endometrial carcinoma 0012114
Freckling 0001480
Hemangioma
Strawberry mark
0001028
Hyperkeratotic papule 0045059
Renal cell carcinoma
Cancer starting in small tubes in kidneys
0005584
Thyroid carcinoma 0002890
5%-29% of people have these symptoms
Abnormal retinal vascular morphology
Abnormality of retina blood vessels
0008046
Abnormality of cerebral veins 0012480
Colon cancer 0003003
Intellectual disability
Mental deficiency
Mental retardation
Mental retardation, nonspecific
Mental-retardation
[ more ] 		0001249
Multinodular goiter 0005987
Thyroid adenoma 0000854
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Last updated: 7/1/2020

Research helps us better understand diseases and can lead to advances in diagnosis and treatment. This section provides resources to help you learn about medical research and ways to get involved.

Clinical Research Resources

  • ClinicalTrials.gov lists trials that are related to PTEN hamartoma tumor syndrome. Click on the link to go to ClinicalTrials.gov to read descriptions of these studies.

    Please note: Studies listed on the ClinicalTrials.gov website are listed for informational purposes only; being listed does not reflect an endorsement by GARD or the NIH. We strongly recommend that you talk with a trusted healthcare provider before choosing to participate in any clinical study.

Patient Registry

  • A registry supports research by collecting of information about patients that share something in common, such as being diagnosed with PTEN hamartoma tumor syndrome. The type of data collected can vary from registry to registry and is based on the goals and purpose of that registry. Some registries collect contact information while others collect more detailed medical information. Learn more about registries.

    Registries for PTEN hamartoma tumor syndrome:
    Simons SearchLight
     

Support and advocacy groups can help you connect with other patients and families, and they can provide valuable services. Many develop patient-centered information and are the driving force behind research for better treatments and possible cures. They can direct you to research, resources, and services. Many organizations also have experts who serve as medical advisors or provide lists of doctors/clinics. Visit the group’s website or contact them to learn about the services they offer. Inclusion on this list is not an endorsement by GARD.

These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.

Where to Start

  • The National Organization for Rare Disorders (NORD) has a report for patients and families about this condition. NORD is a patient advocacy organization for individuals with rare diseases and the organizations that serve them.

In-Depth Information

  • GeneReviews provides current, expert-authored, peer-reviewed, full-text articles describing the application of genetic testing to the diagnosis, management, and genetic counseling of patients with specific inherited conditions.
  • The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
  • Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.
  • PubMed is a searchable database of medical literature and lists journal articles that discuss PTEN hamartoma tumor syndrome. Click on the link to view a sample search on this topic.

Questions sent to GARD may be posted here if the information could be helpful to others. We remove all identifying information when posting a question to protect your privacy. If you do not want your question posted, please let us know.

  1. PTEN Hamartoma Tumor Syndrome. National Organization for Rare Disorders. 2015; https://rarediseases.org/rare-diseases/pten-hamartoma-tumor-syndrome/.
  2. Peter P Stanich, MD; Noralane M Lindor, MD; Mrinal M Patnaik, MBBS. PTEN hamartoma tumor syndrome, including Cowden syndrome. UpToDate. February 2015; Accessed 10/5/2015.