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Disease Profile

PTEN hamartoma tumor syndrome

Prevalence estimates on Rare Medical Network websites are calculated based on data available from numerous sources, including US and European government statistics, the NIH, Orphanet, and published epidemiologic studies. Rare disease population data is recognized to be highly variable, and based on a wide variety of source data and methodologies, so the prevalence data on this site should be assumed to be estimated and cannot be considered to be absolutely correct.


US Estimated

Europe Estimated

Age of onset

All ages





Autosomal dominant A pathogenic variant in only one gene copy in each cell is sufficient to cause an autosomal dominant disease.


Autosomal recessive Pathogenic variants in both copies of each gene of the chromosome are needed to cause an autosomal recessive disease and observe the mutant phenotype.


dominant X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.


recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder.


Mitochondrial or multigenic Mitochondrial genetic disorders can be caused by changes (mutations) in either the mitochondrial DNA or nuclear DNA that lead to dysfunction of the mitochondria and inadequate production of energy.

Multigenic or multifactor Inheritance involving many factors, of which at least one is genetic but none is of overwhelming importance, as in the causation of a disease by multiple genetic and environmental factors.


Not applicable


Other names (AKA)



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]


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.

Medical Terms Other Names
Learn More:
80%-99% of people have these symptoms
Fatty lump
Noncancerous fatty lump

[ more ]

Increased size of skull
Large head
Large head circumference

[ more ]

Multiple trichilemmomata
Plantar pits
30%-79% of people have these symptoms
Autistic behavior
Breast carcinoma
Breast cancer
Endometrial carcinoma
Strawberry mark
Hyperkeratotic papule
Renal cell carcinoma
Cancer starting in small tubes in kidneys
Thyroid carcinoma
5%-29% of people have these symptoms
Abnormal retinal vascular morphology
Abnormality of retina blood vessels
Abnormality of cerebral veins
Colon cancer
Intellectual disability
Mental deficiency
Mental retardation
Mental retardation, nonspecific

[ more ]

Multinodular goiter
Thyroid adenoma


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.

Learn more

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.


      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.