CD
MCID: CWD001
MIFTS: 71

Cowden Disease (CD) malady

Genetic diseases, Rare diseases, Neuronal diseases, Gastrointestinal diseases, Skin diseases, Fetal diseases, Cancer diseases categories

Summaries for Cowden Disease

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44NIH Rare Diseases, 4CDC, 66Wikipedia, 48OMIM, 34MalaCards
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NIH Rare Diseases:44 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. last updated: 11/15/2012

MalaCards: Cowden Disease, also known as multiple hamartoma syndrome, is related to breast cancer and melanoma. An important gene associated with Cowden Disease is PTEN (phosphatase and tensin homolog), and among its related pathways are Homologous Recombination Repair and Glioblastoma Multiforme. The compounds everolimus and 4-methylumbelliferyl phosphate have been mentioned in the context of this disorder. Affiliated tissues include cerebellum, breast and thyroid, and related mouse phenotypes are limbs/digits/tail and digestive/alimentary.

CDC:4 CDC Centers for Disease Control and Prevention - Your Online Source for Credible Health

Wikipedia:66 Cowden syndrome (also known as \"Cowden\'s disease,\" and \"Multiple hamartoma syndrome\") is a rare... more...

Description from OMIM:48 158350

Aliases & Classifications for Cowden Disease

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Sources:
9Disease Ontology, 44NIH Rare Diseases, 22Genetics Home Reference, 11DISEASES, 46Novoseek, 66Wikipedia, 63UMLS, 21GeneTests, 23GTR, 48OMIM, 59SNOMED-CT, 41NCIt, 36MeSH
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Classifications:



Aliases & Descriptions:

cowden disease 9 44 22 11 46
multiple hamartoma syndrome 9 66 44 22
cowden's disease 44 21 23 22
cowden syndrome 9 66 44 22
lhermitte-duclos disease 9 44 63
mham 66 44 22
cs 44 22
cd 44 22
dysplastic gangliocytoma of the cerebellum 44
dysplastic gangliocytoma of cerebellum 9
hamartoma syndrome, multiple 63
lhermitte-duclos syndrome 48
cowden's syndrome 22


External Ids:

Disease Ontology9 DOID:6457
NCIt41 C3076, C8419
SNOMED-CT59 58037000, 67944007
MeSH36 D006223
OMIM48 158350

Related Diseases for Cowden Disease

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18GeneCards, 19GeneDecks
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Diseases in the Cowden Syndrome 1 family:

cowden disease Cowden Syndrome 2
Cowden Syndrome 5 Cowden Syndrome 4
Cowden Syndrome 3 Cowden Syndrome 6

Diseases related to Cowden Disease via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show top 50)    (show all 289)
idRelated DiseaseScoreTop Affiliating Genes
1breast cancer30.5PIK3CA, BRCA2, BRCA1
2melanoma30.5PIK3CA, PTEN, BRCA2, DUSP19, TSC2, STK11
3neurofibromatosis30.5RET, TSC1, TSC2, BRCA2
4astrocytoma30.4PIK3CA, PTEN, BRCA1, TSC2, TSC1, STK11
5lipomatosis30.3PTEN
6cushing's syndrome30.3CALCA, CNC2, RET
7proteus syndrome30.3PTEN, CDKN3
8insulin resistance30.3PIK3CA, DUSP19, TSC2, TSC1, CDKN3
9cowden syndrome 130.2PTEN
10bilateral breast cancer30.1BRCA2, BRCA1
11male breast cancer30.1BRCA1, BRCA2
12bannayan-riley-ruvalcaba syndrome30.1PTEN, CDKN3
13li-fraumeni syndrome30.1PTEN, BRCA2, BRCA1
14dysgerminoma30.1BRCA2, BRCA1
15lipoma30.1DUSP19, PTEN
16familial adenomatous polyposis30.1STK11, BRCA1, SMAD4
17juvenile polyposis syndrome30.1SMAD4, BMPR1A
18carney complex30.1LYPD1
19lynch syndrome30.1BRCA1, BRCA2
20kidney cancer30.1RET, TSC1, TSC2, PIK3CA
21endometrial carcinoma30.0PIK3CA, PTEN, BRCA2, BRCA1, CDKN3
22colorectal cancer30.0STK11, DUSP19, PTEN, SMAD4, PIK3CA
23follicular adenoma30.0PTEN, RET, CALCA
24ovarian cancer30.0PIK3CA, SMAD4, PTEN, BRCA2, BRCA1, CDKN3
25ataxia telangiectasia30.0PIK3CA, BRCA2, BRCA1, STK11, CDKN3
26colon cancer30.0PIK3CA, SMAD4, PTEN, BRCA2, BRCA1, STK11
27thyroid cancer29.9PIK3CA, PTEN, RET, CALCA
28peutz-jeghers syndrome29.9CDKN3, CNC2, BMPR1A, STK11, TSC1, TSC2
29ischemia29.8PIK3CA, DUSP19, STK11, CDKN3
30hepatocellular carcinoma29.8STK11, BRCA2, PTEN, SMAD4, PIK3CA
31adenoma29.8SMAD4, BRCA1, TSC1, RET, STK11, CNC2
32prostate cancer29.6PIK3CA, SMAD4, PTEN, BRCA2, BRCA1, DUSP19
33medulloblastoma10.6
34adult medulloblastoma10.4
35holoprosencephaly10.4
36renal agenesis10.4
37cockayne syndrome type i10.4
38cockayne syndrome10.3
39rett syndrome10.3
40leber congenital amaurosis10.3
41ossifying fibroma10.3
42syringomyelia10.3
43dysembryoplastic neuroepithelial tumor10.3
44polydactyly10.3
45ganglioglioma10.3
46fibroma10.3
47neuronitis10.3
48mutism10.3
49obstructive hydrocephalus10.3
50hydrocephalus10.3

Graphical network of the top 20 diseases related to Cowden Disease:



Diseases related to cowden disease

Symptoms for Cowden Disease

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48OMIM
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Clinical features from OMIM:

158350

Drugs & Therapeutics for Cowden Disease

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6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials, 63UMLS, 42NDF-RT
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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

Genetic Tests for Cowden Disease

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21GeneTests, 23GTR
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Genetic tests related to Cowden Disease:

id Genetic test Affiliating Genes
1 Cowden Syndrome21 23 PTEN

Anatomical Context for Cowden Disease

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34MalaCards
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MalaCards organs/tissues related to Cowden Disease:

34
Cerebellum, Breast, Thyroid, Uterus, Skin, Testis

Animal Models for Cowden Disease or affiliated genes

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38MGI
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MGI Mouse Phenotypes related to Cowden Disease:

38 (show all 21)
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053718.9PTEN, BRCA2, BRCA1, RET, BMPR1A
2MP:00053818.9SMAD4, PTEN, BRCA2, BRCA1, RET, STK11
3MP:00053908.8CALCA, BMPR1A, TSC1, BRCA1, BRCA2, PTEN
4MP:00053888.8PTEN, BRCA1, TSC1, RET, STK11, BMPR1A
5MP:00053698.8PIK3CA, SMAD4, PTEN, BRCA1, TSC1, RET
6MP:00053978.4SMAD4, PTEN, BRCA2, BRCA1, TSC2, RET
7MP:00028738.3SMAD4, PTEN, BRCA2, BRCA1, TSC2, RET
8MP:00053798.2BRCA2, PTEN, SMAD4, PIK3CA, BRCA1, TSC2
9MP:00053678.2SMAD4, TNS1, PTEN, BRCA1, TSC2, TSC1
10MP:00107718.1BRCA2, PTEN, SMAD4, PIK3CA, BRCA1, TSC2
11MP:00053788.1BRCA2, PTEN, SMAD4, PIK3CA, BRCA1, TSC2
12MP:00053878.0PIK3CA, SMAD4, TNS1, PTEN, BRCA2, BRCA1
13MP:00020067.9CALCA, PIK3CA, SMAD4, PTEN, BRCA2, BRCA1
14MP:00053807.9PIK3CA, SMAD4, PTEN, BRCA2, BRCA1, TSC2
15MP:00053767.8PIK3CA, SMAD4, PTEN, BRCA2, BRCA1, TSC2
16MP:00107687.8BRCA2, PTEN, SMAD4, PIK3CA, BRCA1, TSC2
17MP:00053897.7PTEN, TNS1, SMAD4, PIK3CA, BRCA2, BRCA1
18MP:00053857.7PTEN, TNS1, SMAD4, PIK3CA, BRCA1, TSC2
19MP:00053847.7PIK3CA, SMAD4, TNS1, PTEN, BRCA2, BRCA1
20MP:00036317.1BRCA1, BRCA2, PTEN, SMAD4, PIK3CA, TSC2
21MP:00053866.6BRCA2, PTEN, TNS1, SMAD4, PIK3CA, BRCA1

Publications for Cowden Disease

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53PubMed
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Articles related to Cowden Disease:

(show top 50)    (show all 82)
idTitleAuthorsYear
1
Postoperative Dural Arteriovenous Fistula in a Patient with Cowden Disease: A Case Report. (23680687)
2013
2
Skin abnormalities in individuals with macrocephaly: Cowden disease from a dermatologist's point of view. (18986487)
2008
3
Storiform collagenoma as a clue for Cowden disease or PTEN hamartoma tumour syndrome. (17513505)
2007
4
Testicular mixed germ cell tumor in an adolescent with cowden disease. (18160807)
2007
5
Cowden disease: a review. (17394437)
2007
6
Pten loss in the mouse thyroid causes goiter and follicular adenomas: insights into thyroid function and Cowden disease pathogenesis. (17283127)
2007
7
PTEN catalysis of phospholipid dephosphorylation reaction follows a two-step mechanism in which the conserved aspartate-92 does not function as the general acid--mechanistic analysis of a familial Cowden disease-associated PTEN mutation. (17324556)
2007
8
Type 2 segmental Cowden disease vs. Proteus syndrome. (17388921)
2007
9
Multiple hyperechoic testicular lesions are a common finding on ultrasound in Cowden disease and represent lipomatosis of the testis. (16980675)
2006
10
Cowden disease: CT findings in three patients. (15812679)
2005
11
Cowden disease in a family: a clinical and genetic diagnosis. (16021145)
2005
12
Cowden disease with Lhermitte-Duclos disease: case report. (15595264)
2004
13
Novel germline mutation of the PTEN gene in a Japanese family with Cowden disease. (12560928)
2003
14
Identification of germline mutation of PTEN gene and analysis of apoptosis resistance of the lymphocytes in a patient with Cowden disease. (12415190)
2002
15
Cowden disease or multiple hamartoma syndrome--cutaneous clue to internal malignancy. (12370126)
2002
16
Activation of a cryptic splice site of PTEN and loss of heterozygosity in benign skin lesions in Cowden disease. (11886535)
2001
17
Mutation analysis of the PTEN / MMAC1 gene in Japanese patients with Cowden disease. (10920277)
2000
18
Cowden disease]. (10921327)
2000
19
A novel PTEN mutation in a Japanese patient with Cowden disease. (10848731)
2000
20
Cowden disease and Lhermitte-Duclos disease: characterization of a new phakomatosis. (10690726)
2000
21
Cowden disease and Lhermitte Duclos disease, markers of breast carcinoma: report of two patients. (10586343)
1999
22
A novel germline mutation of the PTEN/MMAC1 gene in a patient with Cowden disease. (10606430)
1999
23
Transcatheter embolization of arteriovenous malformations in Cowden disease. (10475785)
1999
24
Linkage analysis of 56 multiplex families excludes the Cowden disease gene PTEN as a major contributor to familial breast cancer. (10507734)
1999
25
Variant manifestation of Cowden disease in Japan: hamartomatous polyposis of the digestive tract with mutation of the PTEN gene. (9915974)
1999
26
Germline mutations of the PTEN/MMAC1 gene in Japanese patients with Cowden disease. (9685848)
1998
27
Identification of a novel PTEN mutation (L139X) in a patient with Cowden disease and SjAPgren's syndrome. (10193515)
1998
28
A heterozygous germline mutation of the PTEN/MMAC1 gene in a patient with Cowden disease. (9852263)
1998
29
Allelic imbalance, including deletion of PTEN/MMACI, at the Cowden disease locus on 10q22-23, in hamartomas from patients with Cowden syndrome and germline PTEN mutation. (9443042)
1998
30
Mutational abrogation of the PTEN/MMAC1 gene in gastrointestinal polyps in patients with Cowden disease. (9797362)
1998
31
Sporadic breast cancers exhibit loss of heterozygosity on chromosome segment 10q23 close to the Cowden disease locus. (9491329)
1998
32
Allele loss in colorectal cancer at the Cowden disease/juvenile polyposis locus on 10q. (9242220)
1997
33
Inherited mutations in PTEN that are associated with breast cancer, Cowden disease, and juvenile polyposis. (9399897)
1997
34
Germline mutations of the PTEN gene in Cowden disease, an inherited breast and thyroid cancer syndrome. (9140396)
1997
35
Somatic deletions and mutations in the Cowden disease gene, PTEN, in sporadic thyroid tumors. (9354427)
1997
36
Cowden disease. Report of a family and review. (9297442)
1996
37
Localization of the gene for Cowden disease to chromosome 10q22-23. (8673088)
1996
38
Early diagnosis of multiple hamartoma and neoplasia syndrome (Cowden disease). The role of the dentist. (7621006)
1995
39
Dysplastic gangliocytoma of the cerebellum (Lhermitte-Duclos disease) and its relation to the multiple hamartoma syndrome (Cowden disease). (7964980)
1994
40
Association of Lhermitte-Duclos and Cowden disease: report of a new case and review of the literature. (8006650)
1994
41
Lhermitte-Duclos disease and Cowden disease: a third case. (1642466)
1992
42
Lhermitte-Duclos disease and Cowden disease: a single phakomatosis. (1859181)
1991
43
Cowden disease (multiple hamartoma syndrome). (2385806)
1990
44
Cowden disease in a young girl: gynecologic and immunologic overview in a case and in the literature. (2649833)
1989
45
Cowden disease. A hereditary polyposis syndrome diagnosable by mucocutaneous inspection. (3782758)
1986
46
Cowden disease: gene marker studies and measurements of epidermal growth factor. (3487976)
1986
47
Radiological findings in multiple hamartoma syndrome (Cowden disease): a report of three cases. (7433661)
1980
48
Radiologic manifestations of Cowden disease. (6773349)
1980
49
The association of myasthenia gravis with multiple hamartoma syndrome (Cowden disease) (7436365)
1980
50
Cowden disease. (1156682)
1975

Variations for Cowden Disease

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65UniProtKB/Swiss-Prot, 1 National Center for Biotechnology Information (Clinvar)
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UniProtKB/Swiss-Prot genetic disease variations for Cowden Disease:

65 (show all 26)
id Symbol AA change Variation ID SNP ID
1PTENp.Ile67ArgVAR_007461
2PTENp.Tyr68HisVAR_007462
3PTENp.His123ArgVAR_007463
4PTENp.Cys124ArgVAR_007464
5PTENp.Gly129GluVAR_007465
6PTENp.Arg130LeuVAR_007467
7PTENp.Arg130GlnVAR_007468
8PTENp.Leu112ProVAR_007807
9PTENp.Leu112ProVAR_007807
10PTENp.Cys136TyrVAR_007808
11PTENp.Met35ArgVAR_008036
12PTENp.Gly165ValVAR_008738
13PTENp.Gly165GluVAR_008739
14PTENp.Pro246LeuVAR_008740
15PTENp.Lys289GluVAR_008741
16PTENp.Val343GluVAR_008742
17PTENp.Phe347LeuVAR_008743
18PTENp.Arg47GlyVAR_011587
19PTENp.Leu70ProVAR_018102
20PTENp.Cys124SerVAR_018104
21PTENp.Cys71TyrVAR_026254
22PTENp.His93TyrVAR_026255
23PTENp.Tyr155CysVAR_026263
24PTENp.Asp331GlyVAR_026275
25PTENp.Phe341ValVAR_026276
26PTENp.Lys342AsnVAR_026277

Clinvar genetic disease variations for Cowden Disease:

1 (show all 18)
id Gene Name Type Significance SNP ID Assembly Location
1CD96NM_198196.2(CD96): c.839C> T (p.Thr280Met)single nucleotide variantPathogenicrs119477056GRCh37Chr 3, 111304209: 111304209
2PTENNM_000314.4(PTEN): c.386G> A (p.Gly129Glu)single nucleotide variantPathogenicrs121909218GRCh37Chr 10, 89692902: 89692902
3PTENNM_000314.4(PTEN): c.697C> T (p.Arg233Ter)single nucleotide variantPathogenicrs121909219GRCh37Chr 10, 89717672: 89717672
4PTENNM_000314.4(PTEN): c.368A> G (p.His123Arg)single nucleotide variantPathogenicrs121909222GRCh37Chr 10, 89692884: 89692884
5PTENNM_000314.4(PTEN): c.370T> C (p.Cys124Arg)single nucleotide variantPathogenicrs121909223GRCh37Chr 10, 89692886: 89692886
6PTENNM_000314.4(PTEN): c.347_351delACAAT (p.Asp116Alafs)deletionPathogenicGRCh37Chr 10, 89692863: 89692867
7PTENNM_000314.4(PTEN): c.388C> T (p.Arg130Ter)single nucleotide variantPathogenicrs121909224GRCh37Chr 10, 89692904: 89692904
8PTENNM_000314.4(PTEN): c.492+2T> Gsingle nucleotide variantPathogenicGRCh37Chr 10, 89693010: 89693010
9PTENNM_000314.4(PTEN): c.696delA (p.Arg233Aspfs)deletionPathogenicGRCh37Chr 10, 89717671: 89717671
10PTENNM_000314.4(PTEN): c.104T> G (p.Met35Arg)single nucleotide variantPathogenicrs121909225GRCh37Chr 10, 89653806: 89653806
11PTENNM_000314.4(PTEN): c.209T> C (p.Leu70Pro)single nucleotide variantPathogenicrs121909226GRCh37Chr 10, 89685314: 89685314
12PTENNM_000314.4(PTEN): c.389G> A (p.Arg130Gln)single nucleotide variantPathogenicrs121909229GRCh37Chr 10, 89692905: 89692905
13PTENNM_000314.4(PTEN): c.1003C> T (p.Arg335Ter)single nucleotide variantPathogenicrs121909231GRCh37Chr 10, 89720852: 89720852
14PTENNM_000314.4(PTEN): c.40dupA (p.Arg14Lysfs)duplicationPathogenicGRCh38Chr 10, 87864509: 87864509
15PTENPTEN, CYS124SERundetermined variantPathogenic
16PTENNM_000314.4(PTEN): c.802delG (p.Asp268Thrfs)deletionPathogenicGRCh37Chr 10, 89720651: 89720651
17PTENNM_000314.4(PTEN): c.-764G> Asingle nucleotide variantPathogenicGRCh37Chr 10, 89623462: 89623462
18PTENNM_000314.4(PTEN): c.-861G> Tsingle nucleotide variantPathogenicGRCh38Chr 10, 87863608: 87863608

Expression for genes affiliated with Cowden Disease

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2BioGPS, 16Gene Expression Omnibus DataSets
See all sources
Expression patterns in normal tissues for genes affiliated with Cowden Disease

Search GEO for disease gene expression data for Cowden Disease.

Pathways for genes affiliated with Cowden Disease

About this section
Sources:
51PathCards, 56Reactome, 54QIAGEN, 55R&D Systems, 61Thomson Reuters, 39NCBI BioSystems Database, 31KEGG, 5Cell Signaling Technology, 13EMD Millipore
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Pathways related to Cowden Disease according to GeneCards/GeneDecks:

(show all 26)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Show member pathways
9.9BRCA1, BRCA2
29.8PTEN, TSC2, TSC1
39.8TSC1, TSC2, PTEN
4
Show member pathways
9.8STK11, TSC1, TSC2
5
Show member pathways
Translation Non genomic rapid action of Androgen Receptor61
9.7PIK3CA, PTEN, TSC2
69.7SMAD4, PTEN, BRCA1
7
Show member pathways
DNA damage response39
9.7TSC2, BRCA1, PTEN
89.7TSC2, BRCA1, SMAD4
9
Show member pathways
9.6BRCA2, SMAD4, PIK3CA
10
Show member pathways
PLK2 and PLK4 events39
Polo-like kinase signaling events in the cell cycle39
9.5PIK3CA, SMAD4, PTEN, STK11
119.5SMAD4, TSC2, TSC1, STK11
129.5PIK3CA, PTEN, TSC2, TSC1
13
Show member pathways
Immune response IL 4 signaling pathway61
Signal transduction AKT signaling61
9.5TSC1, TSC2, PTEN, PIK3CA
149.5PIK3CA, PTEN, TSC2, TSC1
15
Show member pathways
9.5PIK3CA, TSC2, TSC1, STK11
169.5STK11, TSC1, TSC2, PIK3CA
17
Show member pathways
Signal transduction PTEN pathway61
9.5TSC2, PTEN, SMAD4, PIK3CA
18
Show member pathways
Transcription Receptor mediated HIF regulation61
Development CNTF receptor signaling61
Class IB PI3K non-lipid kinase events39
ErbB2/ErbB3 signaling events39
Development Growth hormone signaling via PI3K AKT and MAPK cascades61
Translation Regulation activity of EIF261
Regulation of lipid metabolism Insulin signaling generic cascades61
Transcription PPAR Pathway61
Cell adhesion PLAU signaling61
Translation Regulation activity of EIF4F61
9.3PIK3CA, PTEN, TSC2, TSC1, STK11
19
Show member pathways
Prostate Cancer39
Integrated Cancer pathway39
Steroid Biosynthesis39
9.2PIK3CA, PTEN, BRCA1, TSC2, TSC1
209.2PIK3CA, SMAD4, PTEN, BRCA2, RET
21
Show member pathways
9.0PTEN, BRCA1, TSC2, TSC1, STK11, BMPR1A
229.0PIK3CA, PTEN, BRCA1, TSC2, TSC1, STK11
238.9PIK3CA, SMAD4, PTEN, BRCA2, BRCA1, STK11
24
Show member pathways
Signaling Pathways in Glioblastoma39
8.9PIK3CA, PTEN, BRCA2, BRCA1, TSC2, TSC1
258.5BMPR1A, SMAD4, PTEN, BRCA2, BRCA1, TSC2
26
Show member pathways
8.5PIK3CA, SMAD4, PTEN, TSC2, TSC1, STK11

Compounds for genes affiliated with Cowden Disease

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Sources:
46Novoseek, 52PharmGKB, 12DrugBank, 62Tocris Bioscience, 25HMDB, 30IUPHAR, 3BitterDB
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Compounds related to Cowden Disease according to GeneCards/GeneDecks:

(show top 50)    (show all 89)
idCompoundScoreTop Affiliating Genes
1everolimus46 52 1212.1PIK3CA, TSC2, TSC1
24-methylumbelliferyl phosphate469.9CDKN3, DUSP19
3crcs469.9PTEN, SMAD4, PIK3CA
4cap-p469.8DUSP19, CDKN3
5cytostatin469.8DUSP19, CDKN3
6sodium fluoride469.7DUSP19, CALCA, CDKN3
7indole-3-carbinol469.7BRCA1, BRCA2, PTEN
8dinophysistoxin 1469.7CDKN3, DUSP19
9phosphatidylinositol 3-phosphate469.6PIK3CA, PTEN, DUSP19, CDKN3
10vincristine46 52 1211.6PTEN, BRCA2, BRCA1, CALCA
11erlotinib46 52 1211.6CDKN3, PTEN, PIK3CA
12pd 98,059469.6RET, TSC1, PTEN, SMAD4, PIK3CA
13agar469.6PIK3CA, SMAD4, PTEN, BRCA1, RET
14mg 13246 6210.5SMAD4, PTEN, BRCA1, DUSP19
15phosphatidylinositol-3,4,5-trisphosphate46 2510.5PIK3CA, PTEN, DUSP19, CDKN3
16inositol469.4CDKN3, DUSP19, PTEN, PIK3CA
17ly294002469.4PIK3CA, PTEN, TSC2, RET, CDKN3
18cl 100469.4CDKN3, DUSP13, DUSP19
19etoposide46 52 62 1212.4CDKN3, BRCA1, BRCA2, PTEN, PIK3CA
20phosphothreonine469.3CDKN3, DUSP13, DUSP19
21okadaic acid46 6210.3PIK3CA, PTEN, DUSP19, TSC2, CDKN3
22paclitaxel46 52 1211.3PIK3CA, PTEN, BRCA2, BRCA1, DUSP19
23fluoride469.2DUSP19, CALCA, CDKN3
24phosphoserine46 2510.2BRCA1, DUSP19, DUSP13, CDKN3
25steroid469.1PIK3CA, SMAD4, PTEN, BRCA2, BRCA1, TSC2
26phosphoinositide469.1PIK3CA, PTEN, DUSP19, TSC2, TSC1, CDKN3
27wortmannin469.1PIK3CA, PTEN, DUSP19, TSC2, RET, CDKN3
28alanine469.1SMAD4, PTEN, BRCA1, TSC1, RET, STK11
29cyclic amp46 2510.0PTEN, DUSP19, RET, STK11, CNC2, CALCA
30cisplatin46 52 62 1212.0PIK3CA, PTEN, BRCA2, BRCA1, DUSP19, CDKN3
31adenylate469.0CDKN3, CALCA, STK11, TSC2, DUSP19, PIK3CA
32rapamycin468.9PIK3CA, PTEN, DUSP19, TSC2, TSC1, STK11
33leucine468.9RET, TSC2, PTEN, SMAD4, PIK3CA
34glycogen46 259.9PIK3CA, PTEN, DUSP19, TSC2, TSC1, STK11
35paraffin468.9SMAD4, PTEN, BRCA2, BRCA1, TSC2, TSC1
36arginine468.8PIK3CA, SMAD4, PTEN, DUSP13, TSC2, RET
37genistein46 30 62 3 25 1213.8PIK3CA, PTEN, BRCA2, BRCA1, DUSP19, RET
38retinoic acid46 259.7PIK3CA, PTEN, BRCA2, BRCA1, DUSP19, RET
39atp46 309.6PIK3CA, PTEN, BRCA1, DUSP19, TSC2, RET
40phosphotyrosine468.5PIK3CA, PTEN, BRCA1, DUSP19, DUSP13, RET
41h2o2468.4PIK3CA, PTEN, BRCA2, BRCA1, DUSP19, DUSP13
42lipid468.3PIK3CA, PTEN, BRCA1, DUSP19, DUSP13, TSC2
43testosterone46 62 25 1211.3PIK3CA, SMAD4, PTEN, BRCA2, BRCA1, TSC2
44vegf468.2BRCA1, PTEN, SMAD4, PIK3CA, TSC2, TSC1
45estrogen468.1PIK3CA, SMAD4, PTEN, BRCA2, BRCA1, DUSP19
46calcium46 52 25 1210.8PIK3CA, PTEN, BRCA1, DUSP19, DUSP13, RET
47tyrosine467.7PIK3CA, SMAD4, PTEN, BRCA1, DUSP19, DUSP13
48phosphatidylinositol467.7BRCA1, BRCA2, PTEN, PIK3CA, DUSP19, DUSP13
49threonine467.6CDKN3, PIK3CA, SMAD4, PTEN, DUSP19, DUSP13
50serine467.3DUSP19, BRCA1, PTEN, SMAD4, PIK3CA, DUSP13

GO Terms for genes affiliated with Cowden Disease

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Sources:
17Gene Ontology
See all sources

Cellular components related to Cowden Disease according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1TSC1-TSC2 complexGO:03359610.0TSC1, TSC2
2cytoplasmGO:0057376.1CDKN3, SMAD4, TNS1, PTEN, BRCA2, BRCA1

Biological processes related to Cowden Disease according to GeneCards/GeneDecks:

(show all 20)
idNameGO IDScoreTop Affiliating Genes
1negative regulation of phosphatidylinositol 3-kinase signalingGO:01406710.2TSC2, PTEN
2positive regulation of SMAD protein import into nucleusGO:06039110.2BMPR1A, SMAD4
3negative regulation of cell sizeGO:04579210.1PTEN, TSC2, TSC1
4protein heterooligomerizationGO:05129110.0TSC2, TSC1, STK11
5T cell receptor signaling pathwayGO:05085210.0STK11, PTEN, PIK3CA
6protein kinase B signalingGO:04349110.0TSC2, PTEN, PIK3CA
7DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediatorGO:00697810.0BRCA1, BRCA2
8response to painGO:04826510.0CALCA, RET
9endothelial cell migrationGO:04354210.0CALCA, PTEN, PIK3CA
10vasculature developmentGO:00194410.0CALCA, STK11, PIK3CA
11negative regulation of TOR signalingGO:0320079.9TSC1, TSC2
12insulin receptor signaling pathwayGO:0082869.8PIK3CA, TSC2, TSC1, STK11
13phosphatidylinositol-mediated signalingGO:0480159.7PIK3CA, PTEN, TSC2
14fibroblast growth factor receptor signaling pathwayGO:0085439.7TSC2, PTEN, PIK3CA
15positive regulation of transforming growth factor beta receptor signaling pathwayGO:0305119.7STK11, SMAD4
16cell cycle arrestGO:0070509.7TSC2, TSC1, STK11, CDKN3
17protein phosphorylationGO:0064689.6RET, STK11, BMPR1A, CALCA
18protein dephosphorylationGO:0064709.5PTEN, DUSP19, DUSP13
19positive regulation of transcription, DNA-templatedGO:0458939.4BMPR1A, RET, BRCA1, BRCA2, SMAD4
20negative regulation of cell proliferationGO:0082859.3CDKN3, STK11, TSC1, TSC2, PTEN, SMAD4

Molecular functions related to Cowden Disease according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1protein kinase activator activityGO:0302959.5PIK3CA, DUSP19, STK11
2protein tyrosine/serine/threonine phosphatase activityGO:0081389.3CDKN3, DUSP13, PTEN
3protein tyrosine phosphatase activityGO:0047258.6CDKN3, DUSP13, DUSP19, PTEN
4protein bindingGO:0055156.7CDKN3, PIK3CA, SMAD4, TNS1, PTEN, BRCA2

Products for genes affiliated with Cowden Disease

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Cowden Disease

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4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
30IUPHAR
31KEGG
36MeSH
37MESH via Orphanet
38MGI
41NCIt
42NDF-RT
45NINDS
46Novoseek
48OMIM
49OMIM via Orphanet
53PubMed
54QIAGEN
60SNOMED-CT via Orphanet
63UMLS
64UMLS via Orphanet