CD
MCID: CWD001
MIFTS: 63

Cowden Disease (CD) malady

Summaries for Cowden Disease

Sources:
43NIH Rare Diseases, 21Genetics Home Reference, 64Wikipedia, 47OMIM, 33MalaCards
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NIH Rare Diseases:43 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 cowden's disease, is related to neurofibromatosis and astrocytoma. An important gene associated with Cowden Disease is PTEN (phosphatase and tensin homolog), and among its related pathways are AKT phosphorylates targets in the cytosol and Androgen receptor signaling pathway. The compounds 4-methylumbelliferyl phosphate and crcs have been mentioned in the context of this disorder. Affiliated tissues include cerebellum, lung and thyroid, and related mouse phenotypes are embryogenesis and endocrine/exocrine gland.

Genetics Home Reference:21 Cowden syndrome is a disorder characterized by multiple noncancerous, tumor-like growths called hamartomas and an increased risk of developing certain cancers.

Wikipedia:64 Cowden syndrome (also known as \"Cowden\'s disease,\" and \"Multiple hamartoma syndrome\") is a rare... more...

Description from OMIM:47 158350

Aliases & Classifications for Cowden Disease

Sources:
8Disease Ontology, 43NIH Rare Diseases, 21Genetics Home Reference, 10DISEASES, 45Novoseek, 64Wikipedia, 61UMLS, 20GeneTests, 22GTR, 47OMIM, 57SNOMED-CT, 35MeSH, 40NCIt
See all sources

Aliases & Descriptions:

cowden disease 8 43 21 10 45
cowden's disease 43 20 22 21
cowden syndrome 8 64 43 21
multiple hamartoma syndrome 8 64 21
lhermitte-duclos disease 8 43 61
mham 64 43 21
cs 43 21
cd 43 21
dysplastic gangliocytoma of the cerebellum 43
dysplastic gangliocytoma of cerebellum 8
hamartoma syndrome, multiple 61
lhermitte-duclos syndrome 47
cowden's syndrome 21


External Ids:

Disease Ontology8 DOID:6457
OMIM47 158350
SNOMED-CT57 58037000, 67944007
MeSH35 D006223
NCIt40 C3076, C8419

Related Diseases for Cowden Disease

Sources:
17GeneCards, 18GeneDecks
See all sources

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 281)
idRelated DiseaseScoreTop Affiliating Genes
1neurofibromatosis30.4BRCA2, RET, TSC1, TSC2
2astrocytoma30.4BRCA1, PIK3CA, STK11, CDKN3, PTEN, TSC1
3insulin resistance30.2PIK3CA, AKT2, DUSP19, CDKN3, TSC1, TSC2
4proteus syndrome30.2PTEN, CDKN3
5alzheimer's disease30.1TSC2, TSC1, CDKN3, DUSP19
6ganglioneuroma30.1PTEN, RET
7carney complex30.0LYPD1
8bannayan-riley-ruvalcaba syndrome30.0CDKN3, PTEN
9juvenile polyposis syndrome30.0SMAD4, BMPR1A
10thyroid adenoma30.0PTEN, RET, CNC, PIK3CA
11thyroid cancer30.0PIK3CA, RET, PTEN
12colorectal cancer30.0PIK3CA, STK11, DUSP19, PTEN, SMAD4
13ataxia telangiectasia30.0BRCA1, BRCA2, PIK3CA, STK11, CDKN3
14adenoma30.0BRCA1, STK11, CNC, RET, TSC1, SMAD4
15peutz-jeghers syndrome30.0BRCA2, BMPR1A, STK11, STK11IP, CNC, CDKN3
16ependymoma30.0TSC2
17bilateral breast cancer30.0BRCA2, BRCA1
18dysgerminoma30.0BRCA2, BRCA1
19familial adenomatous polyposis30.0BRCA1, STK11, SMAD4
20male breast cancer30.0BRCA1, BRCA2
21autistic disorder30.0TSC2, TSC1
22adenocarcinoma29.9BRCA1, BRCA2, PIK3CA, STK11, AKT2, TEP1
23acute leukemia29.8TSC2, TEP1, PIK3CA
24bladder carcinoma29.7BRCA1, PIK3CA, TEP1, TSC1
25squamous cell carcinoma29.7PIK3CA, STK11, AKT2, DUSP19, TEP1, PTEN
26adult medulloblastoma10.5
27renal agenesis10.4
28holoprosencephaly10.4
29testicular disease10.4
30cockayne syndrome type i10.3
31dysembryoplastic neuroepithelial tumor10.3
32syringomyelia10.3
33ossifying fibroma10.3
34polydactyly10.3
35ganglioglioma10.3
36mutism10.3
37obstructive hydrocephalus10.3
38brain disease10.3
39vascular disease10.3
40rett syndrome10.3
41leber congenital amaurosis10.3
42asthma10.3
43cockayne syndrome10.3
44cowden syndrome 110.2
45conduct disorder10.2
46cushing's syndrome10.2
47kennedy's disease10.2
48critical illness polyneuropathy10.2
49guanidinoacetate methyltransferase deficiency10.2
50amyotrophic lateral sclerosis10.2

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



Diseases related to cowden disease

Clinical Features for Cowden Disease

Sources:
47OMIM
See all sources

Clinical features from OMIM:

158350

Drugs & Therapeutics for Cowden Disease

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials, 61UMLS, 41NDF-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

Genetic Tests for Cowden Disease

Sources:
20GeneTests, 22GTR
See all sources

Genetic tests related to Cowden Disease:

id Genetic test Affiliating Genes
1 Cowden Syndrome20 22 PTEN

Anatomical Context for Cowden Disease

Sources:
33MalaCards
See all sources

MalaCards organs/tissues related to Cowden Disease:

33
Cerebellum, Lung, Thyroid, Breast, Skin, Uterus, Testis, Testis germ

Animal Models for Cowden Disease or affiliated genes

Sources:
37MGI, 28inGenious Targeting Laboratory
See all sources

MGI Mouse Phenotypes related to Cowden Disease:

37 (show all 20)
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053809.7TSC2, TSC1, RET, BMPR1A, SMAD4
2MP:00053799.7BRCA1, BRCA2, BMPR1A, PIK3CA, RET
3MP:00053699.6TSC1, BMPR1A, AKT2, RET, SMAD4
4MP:00036319.6BMPR1A, TSC1, LYPD1, RET
5MP:00053889.6PTEN, BMPR1A, AKT2, TSC1, BRCA1
6MP:00053679.2TSC2, PTEN, SMAD4, BRCA1, RET, TSC1
7MP:00107719.1BRCA2, SMAD4, TSC2, BRCA1, BMPR1A, PIK3CA
8MP:00053709.1TSC1, TSC2, STK11, PTEN, AKT2, SMAD4
9MP:00030128.9BMPR1A, RET, PIK3CA, STK11, AKT2, LYPD1
10MP:00053858.9TSC2, TSC1, SMAD4, RET, STK11, PIK3CA
11MP:00053898.7SMAD4, TSC1, BRCA2, TSC2, PTEN, BRCA1
12MP:00053978.7RET, BRCA2, BRCA1, SMAD4, STK11, AKT2
13MP:00020068.6SMAD4, BRCA1, BRCA2, BMPR1A, PIK3CA, AKT2
14MP:00053878.5SMAD4, PTEN, STK11, BRCA1, BRCA2, BMPR1A
15MP:00053848.5PTEN, SMAD4, RET, TSC2, AKT2, BMPR1A
16MP:00053788.4SMAD4, RET, BRCA1, BRCA2, BMPR1A, PIK3CA
17MP:00028738.4TEP1, TSC2, STK11, PTEN, RET, BRCA1
18MP:00053768.4BRCA2, BRCA1, SMAD4, TSC2, TSC1, PTEN
19MP:00053868.3TSC1, BRCA1, BRCA2, BMPR1A, PIK3CA, STK11
20MP:00107688.2STK11, PTEN, TSC2, RET, SMAD4, AKT2

Publications for Cowden Disease

Sources:
51PubMed
See all sources

Articles related to Cowden Disease:

(show top 50)    (show all 97)
idTitleAuthorsYear
1
Postoperative Dural Arteriovenous Fistula in a Patient with Cowden Disease: A Case Report. (23680687)
2013
2
Primary lung adenocarcinoma occurring in a PTEN related syndrome (Cowden's disease): routine EGFR sequencing also highlights two rare somatic mutations S768I and V769L. (23261230)
2013
3
Case 175: Testicular lipomatosis in Cowden disease. (22012908)
2011
4
Enhanced lymphocyte interferon (IFN)-I^ responses in a PTEN mutation-negative Cowden disease kindred. (21361912)
2011
5
Cancer and Lhermitte-Duclos disease are common in Cowden syndrome patients. (20565722)
2010
6
Contribution of PTEN large rearrangements in Cowden disease: a multiplex amplifiable probe hybridisation (MAPH) screening approach. (18456716)
2008
7
Skin abnormalities in individuals with macrocephaly: Cowden disease from a dermatologist's point of view. (18986487)
2008
8
Storiform collagenoma as a clue for Cowden disease or PTEN hamartoma tumour syndrome. (17513505)
2007
9
Intramedullary ependymoma associated with Lhermitte-Duclos disease and Cowden syndrome. (17544575)
2007
10
Testicular mixed germ cell tumor in an adolescent with cowden disease. (18160807)
2007
11
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
12
Multiple hyperechoic testicular lesions are a common finding on ultrasound in Cowden disease and represent lipomatosis of the testis. (16980675)
2006
13
Cowden disease. (16377335)
2006
14
Cowden disease: CT findings in three patients. (15812679)
2005
15
Cowden disease in a family: a clinical and genetic diagnosis. (16021145)
2005
16
Association between Cowden syndrome and Lhermitte-Duclos disease: report of two cases and review of the literature. (15120218)
2004
17
Novel germline mutation of the PTEN gene in a Japanese family with Cowden disease. (12560928)
2003
18
Testicular hamartomas in Cowden disease. (14595739)
2003
19
A novel loss-of-function mutation (N48K) in the PTEN gene in a Spanish patient with Cowden disease. (14675182)
2003
20
Cowden disease or multiple hamartoma syndrome--cutaneous clue to internal malignancy. (12370126)
2002
21
Cowden disease and the PTEN gene: a successfully clinical and biological combined approach]. (11792608)
2001
22
A novel PTEN mutation in a Japanese patient with Cowden disease. (10848731)
2000
23
Cowden disease and Lhermitte-Duclos disease: characterization of a new phakomatosis. (10690726)
2000
24
Lhermitte duclos disease and Cowden disease: clinical, pathological and neuroimaging study of a case. (11327294)
2000
25
A novel germline mutation of the PTEN/MMAC1 gene in a patient with Cowden disease. (10606430)
1999
26
Transcatheter embolization of arteriovenous malformations in Cowden disease. (10475785)
1999
27
Linkage analysis of 56 multiplex families excludes the Cowden disease gene PTEN as a major contributor to familial breast cancer. (10507734)
1999
28
Variant manifestation of Cowden disease in Japan: hamartomatous polyposis of the digestive tract with mutation of the PTEN gene. (9915974)
1999
29
Cowden disease: a cutaneous marker for increased risk of breast cancer. (9930780)
1999
30
Novel PTEN mutations in patients with Cowden disease: absence of clear genotype-phenotype correlations. (10234502)
1999
31
Filiform polyposis of the small bowel in a patient with multiple hamartoma syndrome (Cowden disease). (10430165)
1999
32
Dysplastic gangliocytoma (Lhermitte-Duclos disease) associated with Cowden disease: report of a case and review of the literature for the genetic relationship between the two diseases. (10222433)
1999
33
Germline mutations of the PTEN/MMAC1 gene in Japanese patients with Cowden disease. (9685848)
1998
34
A heterozygous germline mutation of the PTEN/MMAC1 gene in a patient with Cowden disease. (9852263)
1998
35
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
36
Mutation spectrum and genotype-phenotype analyses in Cowden disease and Bannayan-Zonana syndrome, two hamartoma syndromes with germline PTEN mutation. (9467011)
1998
37
Somatic deletions and mutations in the Cowden disease gene, PTEN, in sporadic thyroid tumors. (9354427)
1997
38
Lhermitte-Duclos disease associated with Cowden disease. (9384805)
1997
39
Deletion of PTEN in a patient with Bannayan-Riley-Ruvalcaba syndrome suggests allelism with Cowden disease. (9286463)
1997
40
Cowden disease. Report of a family and review. (9297442)
1996
41
Localization of the gene for Cowden disease to chromosome 10q22-23. (8673088)
1996
42
Early diagnosis of multiple hamartoma and neoplasia syndrome (Cowden disease). The role of the dentist. (7621006)
1995
43
Dysplastic gangliocytoma of the cerebellum (Lhermitte-Duclos disease) and its relation to the multiple hamartoma syndrome (Cowden disease). (7964980)
1994
44
Association of multinodular goiter with breast carcinoma: Cowden's disease. (8144869)
1993
45
Lhermitte-Duclos disease and Cowden disease: a third case. (1642466)
1992
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
Cowden disease. (1156682)
1975
50
Cowden disease. Report of two additional cases. (1191539)
1975

Genetic Variations for Cowden Disease

Expression for genes affiliated with Cowden Disease

Sources:
1BioGPS, 15Gene 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

Sources:
54Reactome, 38NCBI BioSystems Database, 30KEGG, 12EMD Millipore, 56SinoBiological, 52QIAGEN, 60Tocris Bioscience, 4Cell Signaling Technology, 50PharmGKB, 53R&D Systems
See all sources

Pathways related to Cowden Disease according to GeneCards/GeneDecks:

(show all 42)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
110.0TSC2, AKT2
29.9SMAD4, PTEN, BRCA1
3
Hide members
9.9BRCA1, PTEN, TSC2
49.9BRCA1, TSC2, SMAD4
5
Hide members
9.9PIK3CA, MINPP1, PTEN
69.9PIK3CA, AKT2, PTEN
79.9TSC2, TSC1, AKT2
8
Development Leptin signaling via PI3K-dependent pathway
Hide members
9.9AKT2, STK11, PIK3CA
9
Hide members
9.9PTEN, AKT2, BRCA1
10
Hide members
9.9BMPR1A, PIK3CA, AKT2
11
Immune response IL-2 activation and signaling pathway
Hide members
9.8SMAD4, AKT2, PIK3CA
12
Immune response IFN gamma signaling pathway
Hide members
9.8AKT2, PIK3CA, BRCA1
139.7STK11, AKT2, PTEN, TSC2
14
Hide members
9.7RET, AKT2, PIK3CA
159.7AKT2, PTEN, TSC1, TSC2
169.7TSC2, TSC1, PTEN, AKT2
179.7STK11, AKT2, TSC1, TSC2
18
Hide members
9.7STK11, AKT2, TSC1, TSC2
19
Hide members
9.7PIK3CA, AKT2, PTEN, SMAD4
20
Hide members
9.7PIK3CA, AKT2, PTEN, TSC2
21
Hide members
9.7TSC2, PTEN, AKT2, PIK3CA
22
Transcription Androgen Receptor nuclear signaling
Hide members
9.7PIK3CA, AKT2, PTEN, TSC2
23
Development Endothelin-1/EDNRA signaling
Hide members
9.7PIK3CA, AKT2, PTEN, TSC2
24
Hide members
9.7PIK3CA, AKT2, PTEN, TSC2
25
Hide members
9.6SMAD4, AKT2, PIK3CA, BRCA2
26
Hide members
9.5TSC2, TSC1, PTEN, PIK3CA, BRCA1
27
Hide members
9.5TSC2, TSC1, PTEN, AKT2, BMPR1A
289.5PIK3CA, AKT2, PTEN, TSC1, TSC2
299.5PIK3CA, AKT2, PTEN, TSC1, TSC2
30
Hide members
9.5PIK3CA, AKT2, PTEN, TSC1, TSC2
31
Hide members
9.5PIK3CA, STK11, AKT2, TSC1, TSC2
329.5PIK3CA, STK11, AKT2, TSC1, TSC2
33
Hide members
9.5PIK3CA, AKT2, PTEN, TSC2, SMAD4
349.3STK11, STK11IP, TSC1, TSC2, SMAD4
35
Translation Insulin regulation of translation
Hide members
9.3PIK3CA, STK11, AKT2, PTEN, TSC1, TSC2
369.3BRCA1, BRCA2, PIK3CA, STK11, PTEN, SMAD4
37
Hide members
9.1BRCA1, BMPR1A, STK11, AKT2, PTEN, TSC1
389.1BRCA2, PIK3CA, AKT2, RET, PTEN, SMAD4
399.1BRCA1, PIK3CA, STK11, AKT2, PTEN, TSC1
40
Hide members
9.1BRCA1, BRCA2, PIK3CA, AKT2, PTEN, TSC1
419.0SMAD4, BRCA1, BRCA2, BMPR1A, STK11, PTEN
42
Hide members
9.0BMPR1A, PIK3CA, STK11, AKT2, PTEN, TSC1

Compounds for genes affiliated with Cowden Disease

Sources:
45Novoseek, 50PharmGKB, 60Tocris Bioscience, 11DrugBank, 24HMDB, 29IUPHAR, 2BitterDB
See all sources

Compounds related to Cowden Disease according to GeneCards/GeneDecks:

(show top 50)    (show all 65)
idCompoundScoreTop Affiliating Genes
14-methylumbelliferyl phosphate4510.2DUSP19, CDKN3
2crcs4510.2PIK3CA, PTEN, SMAD4
3cap-p4510.2CDKN3, DUSP19
4cytostatin4510.2DUSP19, CDKN3
5etoposide45 50 60 1113.1BRCA1, CDKN3, BRCA2
6indole-3-carbinol4510.1BRCA1, BRCA2, PTEN
7dinophysistoxin 14510.1DUSP19, CDKN3
8fostriecin4510.0CDKN3, DUSP19
9erlotinib45 50 1112.0CDKN3, PIK3CA, PTEN
10tautomycin4510.0DUSP19, CDKN3
11phosphatidylinositol 3-phosphate459.9DUSP19, CDKN3, PIK3CA, PTEN
12adpribose459.9PIK3CA, TEP1, BRCA1, BRCA2
13cl 100459.9CDKN3, DUSP19, DUSP13
14mg 13245 6010.9PTEN, SMAD4, DUSP19, BRCA1
15phosphothreonine459.9DUSP19, DUSP13, CDKN3
16phosphatidylinositol-3,4,5-trisphosphate45 2410.8PIK3CA, DUSP19, PTEN, CDKN3
17tamoxifen45 50 29 1112.8AKT2, BRCA1, PTEN, BRCA2, PIK3CA
18agar459.8PTEN, RET, SMAD4, PIK3CA, BRCA1
19phosphoserine45 2410.7DUSP13, CDKN3, DUSP19, BRCA1
20pd 98,059459.7PTEN, RET, PIK3CA, SMAD4, TSC1
21okadaic acid45 6010.7PTEN, TSC2, DUSP19, PIK3CA, CDKN3
22inositol459.7DUSP19, PTEN, PIK3CA, MINPP1, CDKN3
23steroid459.7SMAD4, BRCA2, PIK3CA, BRCA1, TSC2
24glucose459.6TSC2, SMAD4, PTEN, STK11, TSC1, PIK3CA
25calyculin a45 60 1111.6CDKN3, DUSP19, PTEN
26adenosine 5-o-(3-thiotriphosphate)459.6DUSP19, CDKN3
27paclitaxel45 50 1111.6PTEN, AKT2, BRCA2, BRCA1, DUSP19, PIK3CA
28phosphoinositide459.5CDKN3, PTEN, TSC1, TSC2, DUSP19, PIK3CA
29ly294002459.5PIK3CA, TSC2, PTEN, RET, CDKN3, AKT2
30alanine459.3RET, STK11, BRCA1, TSC1, SMAD4, CDKN3
31oligonucleotide459.3RET, BRCA2, PTEN, SMAD4, BRCA1, AKT2
32cisplatin45 50 60 1112.3BRCA2, AKT2, BRCA1, CDKN3, PTEN, DUSP19
33wortmannin459.2TSC2, DUSP19, CDKN3, AKT2, PIK3CA, RET
34adp45 29 2411.2BMPR1A, PIK3CA, RET, AKT2, PTEN, STK11
35genistein45 29 60 2 11 2414.2CDKN3, PIK3CA, BRCA2, BRCA1, RET, DUSP19
36rapamycin459.2TSC2, PIK3CA, STK11, AKT2, DUSP19, CDKN3
37glycogen45 2410.2TSC1, PTEN, CDKN3, DUSP19, AKT2, STK11
38h2o2459.2DUSP19, PIK3CA, CDKN3, PTEN, BRCA1, DUSP13
39testosterone45 60 11 2412.1SMAD4, TSC2, PTEN, RET, PIK3CA, CDKN3
40phosphotyrosine459.1BRCA1, PIK3CA, DUSP13, CDKN3, RET, PTEN
41arginine459.1TSC2, PIK3CA, DUSP13, RET, PTEN, SMAD4
42paraffin459.0TSC1, BRCA2, STK11, RET, TEP1, PTEN
43atp45 2910.0PTEN, RET, CDKN3, STK11, BRCA1, PIK3CA
44vegf459.0SMAD4, CDKN3, RET, PTEN, TSC1, STK11
45retinoic acid45 249.9BRCA2, PTEN, BRCA1, PIK3CA, DUSP19, CDKN3
46lipid458.7DUSP19, DUSP13, RET, TSC2, PTEN, AKT2
47tyrosine458.3TSC2, BRCA1, AKT2, DUSP13, DUSP19, CDKN3
48phosphatidylinositol458.3BRCA1, CDKN3, PIK3CA, AKT2, DUSP13, DUSP19
49threonine458.2DUSP13, RET, PTEN, TSC1, TSC2, CDKN3
50serine458.0SMAD4, TSC1, RET, CDKN3, DUSP19, DUSP13

GO Terms for genes affiliated with Cowden Disease

Sources:
16Gene Ontology
See all sources

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

idNameGO IDScoreTop Affiliating Genes
1TSC1-TSC2 complexGO:0335969.8TSC2, TSC1
2protein complexGO:0432349.7TSC1, STK11, BRCA2, BRCA1

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

(show all 11)
idNameGO IDScoreTop Affiliating Genes
1negative regulation of cell sizeGO:04579210.2PTEN, TSC1, TSC2
2positive regulation of SMAD protein import into nucleusGO:06039110.1SMAD4, BMPR1A
3protein kinase B signaling cascadeGO:04349110.1PIK3CA, PTEN, TSC2
4protein heterooligomerizationGO:05129110.1TSC2, STK11, TSC1
5DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediatorGO:00697810.0BRCA1, BRCA2
6negative regulation of phosphatidylinositol 3-kinase cascadeGO:01406710.0PTEN, TSC2
7cell cycle arrestGO:0070509.8TSC2, TSC1, CDKN3, STK11
8insulin receptor signaling pathwayGO:0082869.7PIK3CA, STK11, AKT2, TSC1, TSC2
9negative regulation of cell proliferationGO:0082859.5SMAD4, TSC2, TSC1, PTEN, CDKN3, STK11
10positive regulation of transcription, DNA-dependentGO:0458939.4SMAD4, BMPR1A, BRCA2, BRCA1, RET
11protein dephosphorylationGO:0064709.4DUSP13, DUSP19, PTEN

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

idNameGO IDScoreTop Affiliating Genes
1protein kinase activator activityGO:0302959.9PIK3CA, STK11, DUSP19
2protein tyrosine/serine/threonine phosphatase activityGO:0081389.6DUSP13, CDKN3, PTEN
3protein tyrosine phosphatase activityGO:0047259.4DUSP13, DUSP19, CDKN3, PTEN
4protein serine/threonine kinase activityGO:0046749.4AKT2, STK11, PIK3CA, BMPR1A
5protein bindingGO:0055157.9PTEN, SMAD4, TSC2, BRCA1, BRCA2, BMPR1A

Products for genes affiliated with Cowden Disease

  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Cowden Disease

3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet