Cowden Syndrome 1 malady
Categories: Genetic diseases, Rare diseases, Neuronal diseases, Gastrointestinal diseases, Skin diseases, Fetal diseases
2CDC, 11Disease Ontology, 12diseasecard, 13DISEASES, 24GeneTests, 25Genetics Home Reference, 26GTR, 30ICD10 via Orphanet, 36MedGen, 38MeSH, 39MESH via Orphanet, 44NCIt, 47NIH Rare Diseases, 49Novoseek, 51OMIM, 53Orphanet, 61SNOMED-CT, 63The Human Phenotype Ontology, 67UMLS, 68UMLS via Orphanet, 69UniProtKB/Swiss-Prot, 70Wikipedia
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Aliases & Descriptions for Cowden Syndrome 1:
Orphanet epidemiological data:53
Inheritance: Autosomal dominant; Prevalence: 1-9/1000000 (Netherlands),1-9/1000000 (Europe); Age of onset: All ages; Age of death: any age
Prevalence: <1/1000000 (Worldwide); Age of onset: Adult
Inheritance: Autosomal dominant; Age of onset: Infancy,Neonatal
Global: Genetic diseases, Rare diseases, Fetal diseases
Anatomical: Neuronal diseases, Gastrointestinal diseases, Skin diseases
Rare neurological diseases
Rare gastroenterological diseases
Rare skin diseases
Developmental anomalies during embryogenesis
UniProtKB/Swiss-Prot:69 Cowden syndrome 1: An autosomal dominant hamartomatous polyposis syndrome with age- related penetrance. Cowden syndrome is characterized by hamartomatous lesions affecting derivatives of ectodermal, mesodermal and endodermal layers, macrocephaly, facial trichilemmomas (benign tumors of the hair follicle infundibulum), acral keratoses, papillomatous papules, and elevated risk for development of several types of malignancy, particularly breast carcinoma in women and thyroid carcinoma in both men and women. Colon cancer and renal cell carcinoma have also been reported. Hamartomas can be found in virtually every organ, but most commonly in the skin, gastrointestinal tract, breast and thyroid. Lhermitte-Duclos disease: A rare disease characterized by the occurrence of a slowly enlarging mass within the cerebellar cortex corresponding histologically to a cerebellar hamartoma. It manifests, most commonly in the third and fourth decades of life, with increased intracranial pressure, headache, nausea, cerebellar dysfunction, occlusive hydrocephalus, ataxia, visual disturbances and other cranial nerve palsies. Various associated abnormalities may be present such as megalencephaly, microgyria, hydromyelia, polydactyly, partial gigantism, macroglossia. LDD is part of the PTEN hamartoma tumor syndromes spectrum that also includes Cowden syndrome.
MalaCards based summary: Cowden Syndrome 1, also known as cowden disease, is related to cowden syndrome 6 and familial breast cancer, and has symptoms including abnormality of the tongue, macrocephaly and myopia. An important gene associated with Cowden Syndrome 1 is PTEN (Phosphatase And Tensin Homolog), and among its related pathways are PDGFR-beta signaling pathway and Small cell lung cancer. Affiliated tissues include breast, thyroid and skin, and related mouse phenotypes are limbs/digits/tail and liver/biliary system.
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.
OMIM:51 Cowden syndrome and Bannayan-Ruvalcaba-Riley syndrome (BRRS; 153480) share clinical characteristics such as... (158350) more...
Disease Ontology:11 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. It is caused by mutations in the PTEN, SDHB, SDHD and KLLN genes.
NIH Rare Diseases:47 Lhermitte-Duclos disease (LDD) is a very rare, benign (non-cancerous) brain tumor, called a dysplastic gangliocytoma of the cerebellum, that is characterized by abnormal development and enlargement of the cerebellum, and an increased intracranial pressure. LDD manifests most commonly in the third and fourth decades of life. Symptoms may include headache, nausea, cerebellar dysfunction, hydrocephalus, ataxia (problems with movement and coordination), and visual disturbances. Other features may include an enlarged brain (megalencephaly), hydromyelia, extra fingers or toes (polydactyly), partial gigantism, and/or a large tongue (macroglossia). Lhermitte-Duclos disease can occur as an isolated condition; it is also associated with a hereditary cancer syndrome called Cowden disease. Although the exact cause is unknown, mutations in the PTEN gene have been identified in some individuals with LDD. Last updated: 11/30/2011
Wikipedia:70 Cowden syndrome (also known as \"Cowden\'s disease,\" and \"multiple hamartoma syndrome\") is a rare... more...
Human phenotypes related to Cowden Syndrome 1:63 53 (show all 139)
UMLS symptoms related to Cowden Syndrome 1:action tremor, seizures, sciatica
Drugs for Cowden Syndrome 1 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):(show all 49)
Interventional clinical trials:(show top 50) (show all 62)
Search NIH Clinical Center for Cowden Syndrome 1
MalaCards organs/tissues related to Cowden Syndrome 1:35
Breast, Thyroid, Skin, Cerebellum, Brain, Tongue, Uterus
MGI Mouse Phenotypes related to Cowden Syndrome 1:40 (show all 30)
UniProtKB/Swiss-Prot genetic disease variations for Cowden Syndrome 1:69 (show all 24)
Clinvar genetic disease variations for Cowden Syndrome 1:5 (show all 45)
Search GEO for disease gene expression data for Cowden Syndrome 1.
Pathways related to Cowden Syndrome 1 according to GeneCards Suite gene sharing:(show all 40)
Cellular components related to Cowden Syndrome 1 according to GeneCards Suite gene sharing:
Biological processes related to Cowden Syndrome 1 according to GeneCards Suite gene sharing:(show all 21)
Molecular functions related to Cowden Syndrome 1 according to GeneCards Suite gene sharing:
30ICD10 via Orphanet
39MESH via Orphanet
52OMIM via Orphanet
62SNOMED-CT via Orphanet
66Tumor Gene Family of Databases
68UMLS via Orphanet