Cowden Syndrome (CD)

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Disease Ontology 12 DOID:6457 KEGG 37 H01222 MeSH 44 D006223 NCIt 50 C3076 SNOMED-CT 68 58037000

MESH via Orphanet 45 D006223 ICD10 via Orphanet 34 Q85.8 UMLS via Orphanet 73 C0018553 Orphanet 59 ORPHA201 UMLS 72 C0018553 C0391826

Genetics Home Reference : ²⁵ Cowden syndrome is a disorder characterized by multiple noncancerous, tumor-like growths called hamartomas and an increased risk of developing certain cancers. Almost everyone with Cowden syndrome develops hamartomas. These growths are most commonly found on the skin and mucous membranes (such as the lining of the mouth and nose), but they can also occur in the intestine and other parts of the body. The growth of hamartomas on the skin and mucous membranes typically becomes apparent by a person's late twenties. Cowden syndrome is associated with an increased risk of developing several types of cancer, particularly cancers of the breast, a gland in the lower neck called the thyroid, and the lining of the uterus (the endometrium). Other cancers that have been identified in people with Cowden syndrome include colorectal cancer, kidney cancer, and a form of skin cancer called melanoma. Compared with the general population, people with Cowden syndrome develop these cancers at younger ages, often beginning in their thirties or forties. Other diseases of the breast, thyroid, and endometrium are also common in Cowden syndrome. Additional signs and symptoms can include an enlarged head (macrocephaly) and a rare, noncancerous brain tumor called Lhermitte-Duclos disease. A small percentage of affected individuals have delayed development or intellectual disability. The features of Cowden syndrome overlap with those of another disorder called Bannayan-Riley-Ruvalcaba syndrome. People with Bannayan-Riley-Ruvalcaba syndrome also develop hamartomas and other noncancerous tumors. Both conditions can be caused by mutations in the PTEN gene. Some people with Cowden syndrome have had relatives diagnosed with Bannayan-Riley-Ruvalcaba syndrome, and other individuals have had the characteristic features of both conditions. Based on these similarities, researchers have proposed that Cowden syndrome and Bannayan-Riley-Ruvalcaba syndrome represent a spectrum of overlapping features known as PTEN hamartoma tumor syndrome instead of two distinct conditions. PTEN PTEN Some people have some of the characteristic features of Cowden syndrome, particularly the cancers associated with this condition, but do not meet the strict criteria for a diagnosis of Cowden syndrome. These individuals are often described as having Cowden-like syndrome.

MalaCards based summary : Cowden Syndrome, also known as multiple hamartoma syndrome, is related to cowden syndrome 1 and proteus syndrome, and has symptoms including seizures and action tremor. An important gene associated with Cowden Syndrome is PTEN (Phosphatase And Tensin Homolog), and among its related pathways/superpathways are Focal Adhesion and Endometrial cancer. The drugs Lactitol and Fluorodeoxyglucose F18 have been mentioned in the context of this disorder. Affiliated tissues include breast, thyroid and cerebellum, and related phenotypes are generalized hyperkeratosis and palmoplantar keratoderma

Disease Ontology : ¹² An autosomal dominant disease characterized by multiple noncancerous, tumor-like growths (hamartomas) and an increased risk of certain forms of cancer, especially breast, thyroid and endometrium.

NIH Rare Diseases : ⁵³ Cowden syndrome is an inherited condition that is characterized primarily by multiple, noncancerous growths (called hamartomas) on various parts of the body. People with the syndrome usually have large head (macrocephaly), benign tumors of the hair follicle (trichilemmomas), and white papules with a smooth surface in the mouth (papillomatous papules), starting by the late 20s. It is considered part of the PTEN Hamartoma Tumor Syndrome spectrum which also includes Bannayan-Riley-Ruvalcaba syndrome and Proteus syndrome. People who have Cowden syndrome are at an increased risk of developing certain types of cancer, such as breast, thyroid, and endometrial (lining of the uterus) cancer. Most cases are caused by mutations in the PTEN gene and are inherited in an autosomal dominant manner. Management typically includes screening for associated tumors and/or prophylactic surgeries.

KEGG : ³⁷ Cowden syndrome (CS) is a autosomal dominant inherited cancer syndrome characterized by benign and malignant breast, thyroid, and endometrial neoplasias in addition to cutaneous findings and macrocephaly. Germ line PTEN mutations have been found in 85% of those with CS. A large heterogeneous group of individuals with Cowden-like syndrome, who have various combinations of Cowden syndrome features but who do not meet Cowden syndrome diagnostic criteria, have PTEN mutations less than 10% of the time. In the absence of germline PTEN mutations, approximately 10% of individuals with Cowden syndrome or Cowden-like syndrome harbor germline succinate dehydrogenase variants SDHB and SDHD.

Wikipedia : ⁷⁵ Cowden syndrome (also known as Cowden's disease and multiple hamartoma syndrome) is an autosomal... more...

#	Description	GenomeRNAi Source Accession	Score	Top Affiliating Genes
1	Decreased viability	GR00055-A-2	10.34	EGFR PIK3CA
2	Decreased viability	GR00221-A-1	10.34	AKT1 BMPR1A EGFR PIK3CA SDHD
3	Decreased viability	GR00221-A-2	10.34	AKT1 BMPR1A PIK3CA SDHD
4	Decreased viability	GR00221-A-3	10.34	AKT1 BMPR1A
5	Decreased viability	GR00221-A-4	10.34	AKT1 BMPR1A EGFR PIK3CA SDHD
6	Decreased viability	GR00381-A-1	10.34	SDHD
7	Decreased viability	GR00402-S-2	10.34	AKT1 BMPR1A EGFR PIK3CA SDHD
8	Decreased sensitivity to paclitaxel	GR00112-A-0	9.16	PTEN SMAD4
9	Increased mitotic index	GR00110-A-0	8.92	BMPR1A SDHD SMAD4 TNS1

Search NIH Clinical Center for Cowden Syndrome

Search GEO for disease gene expression data for Cowden Syndrome.