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MCID: CWD001
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Cowden Disease malady |
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23 genes, 5 tissues, 2088 related diseases, 19 phenotypes, 34 articles, clinical trials, genetic tests.
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Sources: 30NIH Rare Diseases, 2CDC, 17Genetics Home Reference, 44Wikipedia, 33OMIM, 22MalaCards See all sources Export this MalaCard |
NIH Rare Diseases: Cowden syndrome is an inherited disorder characterized by multiple noncancerous, tumor-like growths called hamartomas on various areas of the body. Affected individuals are at an increased risk of developing certain cancers, especially cancer of the breast, thyroid or endometrium (lining the uterus). Cowden syndrome is caused by mutations in the PTEN, SDHB, SDHD, and KLLN genes. This condition is inherited in an autosomal dominant pattern. In some cases, an affected person inherits the mutation from one affected parent. Other cases may result from new mutations in the gene.30
MalaCards: Cowden Disease, also known as cowden syndrome, is related to b-cell lymphomas and squamous cell carcinoma. An important gene associated with Cowden Disease is CNC (Carney complex, multiple neoplasia and lentiginosis), and among its related pathways are Development_EGFR signaling via PIP3 and Signal transduction_PTEN pathway. The compounds 4-methylumbelliferyl phosphate and cap-p have been mentioned in the context of this disorder. Affiliated tissues include cerebellum, thyroid and breast, and related mouse phenotypes are respiratory system and liver/biliary system. CDC: Clinical Decision Support Systems (CDSS) are applications that assist clinicians in the provision of care by providing prompts through the analysis of clinical data. These applications require patient specific clinical variables and as a result of running these variables against the decision support rules, they can provide patient specific recommendations. CDS encompasses, but is not limited to providing computerized alerts, recommendations and best practices at the point of care.2 Genetics Home Reference: Cowden syndrome is a disorder characterized by multiple noncancerous, tumor-like growths called hamartomas and an increased risk of developing certain cancers.17 Wikipedia: Cowden syndrome (also known as \"Cowden\'s disease,\" and \"Multiple hamartoma syndrome\") is a rare...44 more... OMIM: 158350 |
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Sources: 6Disease Ontology, 7diseasecard, 44Wikipedia, 30NIH Rare Diseases, 16GeneTests, 17Genetics Home Reference, 8DISEASES, 33OMIM, 32Novoseek , 2CDC, 43UMLS, 27NCIt, 40SNOMED-CT, 24MeSH See all sources |
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Sources: 33OMIM See all sources |
Clinical features from OMIM: 158350
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Sources: 4CenterWatch, 29NIH Clinical Center, 5ClinicalTrials, 43UMLS, 28NDF-RT See all sources |
Approved drugs:Search CenterWatch for cowden disease Drug clinical trials:Search ClinicalTrials for cowden disease Search NIH Clinical Center for cowden disease Search CenterWatch for cowden disease |
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Sources: 22MalaCards See all sources |
MalaCards organs/tissues related to cowden disease:22Cerebellum, Thyroid, Breast, Skin, Uterus
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Sources: 25MGI See all sources |
MGI Mouse Phenotypes related to cowden disease:25 (show all 19)
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Sources: 35PubMed See all sources |
Articles related to cowden disease:(show all 34)
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Sources: 1BioGPS See all sources |
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Sources: 41Thomson Reuters, 10EMD Millipore, 20KEGG, 36QIAGEN, 3Cell Signaling Technology See all sources |
Pathways related to cowden disease according to GeneDecks:(show top 50) (show all 119)
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Sources: 32Novoseek , 9DrugBank, 18HMDB, 42Tocris Bioscience, 34PharmGKB See all sources |
Compounds related to cowden disease according to GeneDecks:(show top 50) (show all 71)
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Sources: 12Gene Ontology See all sources |
Cellular components related to cowden disease according to GeneDecks:
Biological processes related to cowden disease according to GeneDecks:(show all 17)
Molecular functions related to cowden disease according to GeneDecks:
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