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Disease Profile
Cowden 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.
1-9 / 1 000 000
Age of onset
All ages
ICD-10
Q85.8
Inheritance
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.
X-linked
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.
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.
X-linked
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder.
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)
Cowden disease; CD; Cowden's disease;
Categories
Congenital and Genetic Diseases; Digestive Diseases; Hereditary Cancer Syndromes;
Summary
Cowden
Symptoms
People affected by Cowden syndrome also have an increased risk of developing certain types of
Other signs and symptoms of Cowden syndrome may include benign diseases of the breast, thyroid, and endometrium; a rare, noncancerous brain tumor called Lhermitte-Duclos disease; an enlarged head (macrocephaly); autism spectrum disorder;
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:
HPO ID
|
|
---|---|---|---|
80%-99% of people have these symptoms | |||
Breast carcinoma |
Breast cancer
|
0003002 | |
Colorectal polyposis | 0200063 | ||
Conjunctival hamartoma | 0100780 | ||
Generalized hyperkeratosis | 0005595 | ||
Goiter |
Enlarged thyroid gland in neck
|
0000853 | |
Macule |
Flat, discolored area of skin
|
0012733 | |
Palmoplantar keratoderma |
Thickening of palms and soles
|
0000982 | |
Papilloma | 0012740 | ||
Papule | 0200034 | ||
30%-79% of people have these symptoms | |||
Abnormality of the penis | 0000036 | ||
Adenoma sebaceum | 0009720 | ||
0001251 | |||
Cavernous hemangioma |
Collection of dilated blood vessels that forms mass
|
0001048 | |
Cognitive impairment |
Abnormality of cognition
Cognitive abnormality
Cognitive defects
Cognitive deficits
Intellectual impairment
Mental impairment
[ more ] |
0100543 | |
Furrowed tongue |
Grooved tongue
|
0000221 | |
Global |
0001263 | ||
Hamartomatous polyposis | 0004390 | ||
Intellectual disability |
Mental deficiency
Mental retardation
Mental retardation, nonspecific
Mental-retardation
[ more ] |
0001249 | |
Lipoma |
Fatty lump
Noncancerous fatty lump
[ more ] |
0012032 | |
Macrocephaly |
Increased size of skull
Large head
Large head circumference
[ more ] |
0000256 | |
Macroglossia |
Abnormally large tongue
Increased size of tongue
Large tongue
[ more ] |
0000158 | |
Melanocytic nevus |
Beauty mark
|
0000995 | |
Meningioma | 0002858 | ||
Mucosal telangiectasiae | 0100579 | ||
Subcutaneous nodule |
Firm lump under the skin
Growth of abnormal tissue under the skin
[ more ] |
0001482 | |
5%-29% of people have these symptoms | |||
Abnormal cerebellum morphology |
Abnormality of the cerebellum
Cerebellar abnormalities
Cerebellar abnormality
Cerebellar anomaly
[ more ] |
0001317 | |
0000717 | |||
Bone cyst |
Bone cysts
|
0012062 | |
Short fingers or toes
|
0001156 | ||
Clouding of the lens of the eye
Cloudy lens
[ more ] |
0000518 | ||
Cellular |
0005374 | ||
Endometrial carcinoma | 0012114 | ||
Enlarged polycystic ovaries |
Enlarged ovaries with cysts
|
0008675 | |
Failure to thrive |
Faltering weight
Weight faltering
[ more ] |
0001508 | |
Follicular thyroid carcinoma | 0006731 | ||
Enlarged male breast
|
0000771 | ||
Hearing impairment |
Deafness
Hearing defect
[ more ] |
0000365 | |
High palate |
Elevated palate
Increased palatal height
[ more ] |
0000218 | |
Hypopigmented skin patches |
Patchy loss of skin color
|
0001053 | |
Increased intracranial pressure |
Rise in pressure inside skull
|
0002516 | |
Kyphosis |
Hunched back
Round back
[ more ] |
0002808 | |
Melanoma | 0002861 | ||
Multiple cafe-au-lait spots | 0007565 | ||
Myopia |
Close sighted
Near sighted
Near sightedness
Nearsightedness
[ more ] |
0000545 | |
Pectus excavatum |
Funnel chest
|
0000767 | |
Renal |
Cancer starting in small tubes in kidneys
|
0005584 | |
0002650 | |||
0001250 | |||
Decreased body height
Small stature
[ more ] |
0004322 | ||
1%-4% of people have these symptoms | |||
Decreased circulating |
0004313 | ||
Lymphopenia |
Decreased blood lymphocyte number
Low lymphocyte number
[ more ] |
0001888 | |
Recurrent infections |
Frequent infections
Frequent, severe infections
Increased frequency of infection
infections, recurrent
Predisposition to infections
Susceptibility to infection
[ more ] |
0002719 | |
Percent of people who have these symptoms is not available through HPO | |||
Abnormality of the vasculature |
Abnormality
Cause Most cases of Cowden
Rarely, Cowden syndrome is caused by mutations in another gene like KLLN, SDHB, SDHC, SDHD, PIK3CA or AKT1. Some affected families have no identifiable mutation in any of the genes associated with Cowden syndrome; in these families, the exact underlying cause is unknown.[8504][4][5] Diagnosis A diagnosis of Cowden
The National Comprehensive Cancer Network [NCCN 2015] consensus clinical diagnostic criteria have been divided into three categories:[3][8504]
A diagnosis is given if a patient has the "pathognomonic" skin lesions, two or more major criteria, one major and 3 or more minor criteria, or 4 or more minor criteria. The diagnostic criteria for adults and children have some differences.[3] The PTEN Cleveland Clinic Risk Calculator can be used to estimate the chance of finding a PTEN mutation in children and adults with signs and symptoms of Cowden syndrome. Finding mutations in the PTEN gene or other causal genes confirms diagnosis. GeneReviews offers more detailed information regarding the diagnosis of Cowden syndrome including the clinical diagnostic criteria. Testing Resources
Treatment Because Cowden
Cancer Screening for Women
Cancer Screening for Men and Women
**or individualized based on the earliest diagnosis of cancer in the family. Pediatric (age <18 years)
If there are not any symptoms, observation alone is prudent. Cutaneous lesions should be removed only if malignancy is suspected or symptoms (e.g., pain, deformity, increased scarring) are serious. When symptomatic, topical agents (e.g., 5-fluorouracil), curettage, cryosurgery, or laser ablation may offer temporary relief. [Hildenbrand et al 2001]. GeneReviews offers more specific information on the treatment and management of Cowden syndrome. Related diseasesRelated diseases are conditions that have similar signs and symptoms. A health care provider may consider these conditions in the table below when making a diagnosis. Please note that the table may not include all the possible conditions related to this disease.
OrganizationsSupport 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. Organizations Supporting this Disease
Social Networking Websites
Organizations Providing General Support
Learn moreThese 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
In-Depth Information
References
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