MCID: CWD001
MIFTS: 67

Cowden Disease

Categories: Rare diseases, Genetic diseases, Neuronal diseases, Gastrointestinal diseases, Skin diseases, Fetal diseases

Aliases & Classifications for Cowden Disease

MalaCards integrated aliases for Cowden Disease:

Name: Cowden Disease 12 49 24 55 51 14
Cowden Syndrome 72 49 24 55 28
Multiple Hamartoma Syndrome 12 49 24 55
Lhermitte-Duclos Disease 12 49 28 69
Cowden's Disease 72 49 24
Hamartoma Syndrome, Multiple 41 69
Mham 49 24
Cs 49 24
Cd 49 24
Dysplastic Gangliocytoma of the Cerebellum 49
Dysplastic Gangliocytoma of Cerebellum 12
Cowden's Syndrome 24

Characteristics:

Orphanet epidemiological data:

55
cowden syndrome
Inheritance: Autosomal dominant; Prevalence: 1-9/1000000 (Netherlands),1-9/1000000 (Europe); Age of onset: All ages; Age of death: any age;

Classifications:



Summaries for Cowden Disease

NIH Rare Diseases : 49 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. Last updated: 1/6/2017

MalaCards based summary : Cowden Disease, also known as cowden syndrome, is related to cowden syndrome 1 and juvenile polyposis syndrome, and has symptoms including abnormality of the penis, macroglossia and high palate. An important gene associated with Cowden Disease is PTEN (Phosphatase And Tensin Homolog), and among its related pathways/superpathways are PI3K-Akt signaling pathway and Endometrial cancer. The drugs Miconazole and Everolimus have been mentioned in the context of this disorder. Affiliated tissues include breast, thyroid and cerebellum, and related phenotypes are Decreased viability and Decreased viability

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. It is caused by mutations in the PTEN, SDHB, SDHD and KLLN genes.

Genetics Home Reference : 24 Cowden syndrome is a disorder characterized by multiple noncancerous, tumor-like growths called hamartomas and an increased risk of developing certain cancers.

Related Diseases for Cowden Disease

Diseases in the Cowden Disease family:

Cowden Syndrome 1 Cowden Syndrome 2
Cowden Syndrome 3 Cowden Syndrome 4
Cowden Syndrome 5 Cowden Syndrome 6
Cowden Syndrome 7

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

(show top 50) (show all 122)
# Related Disease Score Top Affiliating Genes
1 cowden syndrome 1 32.8 CD96 PTEN
2 juvenile polyposis syndrome 31.8 BMPR1A PTEN SMAD4 STK11
3 congenital heart defects, hamartomas of tongue, and polysyndactyly 31.0 PTEN STK11 TSC2
4 lipomatosis 30.6 PIK3CA PTEN SDHB
5 thyroiditis 30.5 CALCA RET TG
6 bannayan-riley-ruvalcaba syndrome 30.4 BMPR1A CDKN3 PTEN
7 proteus syndrome 30.4 AKT1 CDKN3 PIK3CA PTEN
8 follicular adenoma 30.0 CALCA PTEN RET TG
9 sporadic breast cancer 30.0 BRCA1 BRCA2 PTEN
10 peutz-jeghers syndrome 29.7 PTEN SMAD4 STK11 TSC2
11 thyroid cancer 29.4 AKT1 CALCA PIK3CA PTEN RET TG
12 breast cancer 28.7 AKT1 BMPR1A BRCA1 BRCA2 KLLN PIK3CA
13 chanarin-dorfman syndrome 11.5
14 epilepsy occipital calcifications 11.4
15 castleman disease 11.3
16 conduct disorder 11.2
17 gastric cancer 10.8
18 chromosome 10q22.3-q23.2 deletion syndrome 10.8 BMPR1A PTEN
19 chromosome 10q23 deletion syndrome 10.7 BMPR1A PTEN
20 mucoepidermoid thyroid carcinoma 10.6 CALCA TG
21 thyroid hurthle cell adenoma 10.6 PIK3CA PTEN
22 vaginal benign neoplasm 10.6 CHGA STK11
23 vaginal adenoma 10.6 CHGA STK11
24 atypical follicular adenoma 10.6 CALCA CHGA TG
25 acute thyroiditis 10.6 CALCA CHGA TG
26 spinal meningioma 10.6 CHGA PTEN TG
27 vaginal tubulovillous adenoma 10.6 CHGA STK11
28 small cell carcinoma 10.5 CALCA CHGA PTEN
29 suppurative thyroiditis 10.5 CALCA TG
30 megalencephaly 10.5 PIK3CA PTEN STK11
31 thyroid sarcoma 10.5 CALCA TG
32 testicular germ cell tumor 10.5 AKT1 PTEN STK11
33 mucoepidermoid carcinoma 10.4 CALCA CHGA TG
34 male reproductive organ cancer 10.4 AKT1 CHGA PTEN
35 hereditary site-specific ovarian cancer syndrome 10.4 BRCA1 BRCA2
36 brca1 hereditary breast and ovarian cancer syndrome 10.4 BRCA1 BRCA2
37 breast reconstruction 10.4 BRCA1 BRCA2
38 tuberculous salpingitis 10.4 BRCA1 BRCA2
39 nosophobia 10.4 BRCA1 BRCA2
40 cancerophobia 10.4 BRCA1 BRCA2
41 neural crest tumor 10.4 SDHB SDHC SDHD
42 nodular goiter 10.4 CALCA RET TG
43 thyroid cancer, anaplastic 10.4 PIK3CA RET TG
44 paragangliomas 1 10.4 SDHB SDHC SDHD
45 adult hepatocellular carcinoma 10.4 PIK3CA TSC2
46 extra-adrenal pheochromocytoma 10.4 SDHB SDHC SDHD
47 carney triad 10.3 SDHB SDHC SDHD
48 paraganglioma and gastric stromal sarcoma 10.3 SDHB SDHC SDHD
49 cell type cancer 10.3 AKT1 CHGA PTEN
50 synchronous bilateral breast carcinoma 10.3 BRCA1 BRCA2 PTEN

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



Diseases related to Cowden Disease

Symptoms & Phenotypes for Cowden Disease

Human phenotypes related to Cowden Disease:

55 31 (show top 50) (show all 68)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 abnormality of the penis 55 31 frequent (33%) Frequent (79-30%) HP:0000036
2 macroglossia 55 31 frequent (33%) Frequent (79-30%) HP:0000158
3 high palate 55 31 occasional (7.5%) Occasional (29-5%) HP:0000218
4 furrowed tongue 55 31 frequent (33%) Frequent (79-30%) HP:0000221
5 macrocephaly 55 31 frequent (33%) Frequent (79-30%) HP:0000256
6 hearing impairment 55 31 occasional (7.5%) Occasional (29-5%) HP:0000365
7 cataract 55 31 occasional (7.5%) Occasional (29-5%) HP:0000518
8 myopia 55 31 occasional (7.5%) Occasional (29-5%) HP:0000545
9 autism 55 31 occasional (7.5%) Occasional (29-5%) HP:0000717
10 pectus excavatum 55 31 occasional (7.5%) Occasional (29-5%) HP:0000767
11 gynecomastia 55 31 occasional (7.5%) Occasional (29-5%) HP:0000771
12 goiter 55 31 hallmark (90%) Very frequent (99-80%) HP:0000853
13 palmoplantar keratoderma 55 31 hallmark (90%) Very frequent (99-80%) HP:0000982
14 melanocytic nevus 55 31 frequent (33%) Frequent (79-30%) HP:0000995
15 cavernous hemangioma 55 31 frequent (33%) Frequent (79-30%) HP:0001048
16 hypopigmented skin patches 55 31 occasional (7.5%) Occasional (29-5%) HP:0001053
17 brachydactyly 55 31 occasional (7.5%) Occasional (29-5%) HP:0001156
18 intellectual disability 55 31 frequent (33%) Frequent (79-30%) HP:0001249
19 seizures 55 31 occasional (7.5%) Occasional (29-5%) HP:0001250
20 ataxia 55 31 frequent (33%) Frequent (79-30%) HP:0001251
21 global developmental delay 55 31 frequent (33%) Frequent (79-30%) HP:0001263
22 subcutaneous nodule 55 31 frequent (33%) Frequent (79-30%) HP:0001482
23 failure to thrive 55 31 occasional (7.5%) Occasional (29-5%) HP:0001508
24 increased intracranial pressure 55 31 occasional (7.5%) Occasional (29-5%) HP:0002516
25 scoliosis 55 31 occasional (7.5%) Occasional (29-5%) HP:0002650
26 kyphosis 55 31 occasional (7.5%) Occasional (29-5%) HP:0002808
27 meningioma 55 31 frequent (33%) Frequent (79-30%) HP:0002858
28 melanoma 55 31 occasional (7.5%) Occasional (29-5%) HP:0002861
29 breast carcinoma 55 31 hallmark (90%) Very frequent (99-80%) HP:0003002
30 short stature 55 31 occasional (7.5%) Occasional (29-5%) HP:0004322
31 hamartomatous polyposis 55 31 frequent (33%) Frequent (79-30%) HP:0004390
32 cellular immunodeficiency 55 31 occasional (7.5%) Occasional (29-5%) HP:0005374
33 renal cell carcinoma 55 31 occasional (7.5%) Occasional (29-5%) HP:0005584
34 generalized hyperkeratosis 55 31 hallmark (90%) Very frequent (99-80%) HP:0005595
35 follicular thyroid carcinoma 55 31 occasional (7.5%) Occasional (29-5%) HP:0006731
36 multiple cafe-au-lait spots 55 31 occasional (7.5%) Occasional (29-5%) HP:0007565
37 enlarged polycystic ovaries 55 31 occasional (7.5%) Occasional (29-5%) HP:0008675
38 adenoma sebaceum 55 31 frequent (33%) Frequent (79-30%) HP:0009720
39 lipoma 55 31 frequent (33%) Frequent (79-30%) HP:0012032
40 bone cyst 55 31 occasional (7.5%) Occasional (29-5%) HP:0012062
41 endometrial carcinoma 55 31 occasional (7.5%) Occasional (29-5%) HP:0012114
42 macule 55 31 hallmark (90%) Very frequent (99-80%) HP:0012733
43 papilloma 55 31 hallmark (90%) Very frequent (99-80%) HP:0012740
44 neoplasm of the thyroid gland 55 31 frequent (33%) Occasional (29-5%) HP:0100031
45 cognitive impairment 55 31 frequent (33%) Frequent (79-30%) HP:0100543
46 mucosal telangiectasiae 55 31 frequent (33%) Frequent (79-30%) HP:0100579
47 conjunctival hamartoma 55 31 hallmark (90%) Very frequent (99-80%) HP:0100780
48 papule 55 31 hallmark (90%) Very frequent (99-80%) HP:0200034
49 colorectal polyposis 55 31 hallmark (90%) Very frequent (99-80%) HP:0200063
50 abnormality of the kidney 55 Occasional (29-5%)

UMLS symptoms related to Cowden Disease:


cerebellar ataxia, action tremor, seizures

GenomeRNAi Phenotypes related to Cowden Disease according to GeneCards Suite gene sharing:

25 (show all 11)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased viability GR00055-A-2 10.67 PIK3CA
2 Decreased viability GR00221-A-1 10.67 RET BMPR1A AKT1 PIK3CA SDHD
3 Decreased viability GR00221-A-2 10.67 RET BMPR1A BRCA1 AKT1 PIK3CA SDHD
4 Decreased viability GR00221-A-3 10.67 BMPR1A BRCA1 AKT1
5 Decreased viability GR00221-A-4 10.67 BMPR1A RET AKT1 PIK3CA SDHD
6 Decreased viability GR00231-A 10.67 RET
7 Decreased viability GR00301-A 10.67 RET BRCA1
8 Decreased viability GR00381-A-1 10.67 SDHD
9 Decreased sensitivity to paclitaxel GR00112-A-0 9.26 PTEN SMAD4
10 Increased cell viability after pRB stimulation GR00230-A-1 9.26 AKT1 BMPR1A RET STK11
11 Increased mitotic index GR00110-A-0 9.02 BMPR1A RET SDHD SMAD4 STK11

MGI Mouse Phenotypes related to Cowden Disease:

43 (show all 17)
# Description MGI Source Accession Score Top Affiliating Genes
1 endocrine/exocrine gland MP:0005379 10.4 TG TSC2 AKT1 BRCA1 BMPR1A BRCA2
2 homeostasis/metabolism MP:0005376 10.38 TG TSC2 AKT1 BRCA1 BMPR1A BRCA2
3 growth/size/body region MP:0005378 10.36 STK11 TG TSC2 BMPR1A BRCA2 AKT1
4 behavior/neurological MP:0005386 10.35 STK11 TSC2 BMPR1A AKT1 BRCA1 RET
5 cardiovascular system MP:0005385 10.34 TSC2 STK11 AKT1 BRCA1 BMPR1A PTEN
6 hematopoietic system MP:0005397 10.34 TG TSC2 BRCA2 AKT1 BRCA1 BMPR1A
7 cellular MP:0005384 10.33 STK11 TSC2 BMPR1A AKT1 BRCA1 RET
8 mortality/aging MP:0010768 10.31 STK11 TSC2 BMPR1A BRCA2 AKT1 BRCA1
9 embryo MP:0005380 10.28 TSC2 STK11 BRCA2 AKT1 BRCA1 BMPR1A
10 neoplasm MP:0002006 10.15 TSC2 AKT1 BRCA1 BMPR1A BRCA2 PTEN
11 integument MP:0010771 10.11 TSC2 STK11 BMPR1A AKT1 BRCA1 PIK3CA
12 nervous system MP:0003631 10.1 STK11 TG TSC2 BMPR1A AKT1 BRCA1
13 muscle MP:0005369 10.01 STK11 BMPR1A AKT1 BRCA1 PIK3CA PTEN
14 normal MP:0002873 9.93 TSC2 AKT1 BRCA1 BMPR1A BRCA2 PTEN
15 no phenotypic analysis MP:0003012 9.8 STK11 BMPR1A PIK3CA CHGA RET SEC23B
16 renal/urinary system MP:0005367 9.56 STK11 TSC2 BRCA1 RET CHGA PTEN
17 reproductive system MP:0005389 9.36 STK11 TSC2 BRCA2 AKT1 BRCA1 BMPR1A

Drugs & Therapeutics for Cowden Disease

Drugs for Cowden Disease (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 11)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Miconazole Approved, Investigational, Vet_approved Phase 2 22916-47-8 4189
2
Everolimus Approved Phase 2 159351-69-6 6442177
3
Sirolimus Approved, Investigational Phase 2 53123-88-9 46835353 6436030 5284616
4 Fluorodeoxyglucose F18 Phase 2
5 Anti-Bacterial Agents Phase 2
6 Anti-Infective Agents Phase 2
7 Antifungal Agents Phase 2
8 Immunosuppressive Agents Phase 2
9 Antibiotics, Antitubercular Phase 2
10 Radiopharmaceuticals Phase 2
11
Trastuzumab Approved, Investigational Phase 1 180288-69-1 9903

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Sirolimus to Treat Cowden Syndrome and Other PTEN Hamartomatous Tumor Syndromes Completed NCT00971789 Phase 2 sirolimus
2 A Phase I/II Study of BGT226 in Adult Patients With Advanced Solid Malignancies Including Patients With Advanced Breast Cancer Completed NCT00600275 Phase 1, Phase 2 BGT226
3 A Phase I/II Study of BEZ235 in Patients With Advanced Solid Malignancies Enriched by Patients With Advanced Breast Cancer Completed NCT00620594 Phase 1 BEZ235
4 Clinical, Genetic, Behavioral, Laboratory and Epidemiologic Characterization of Individuals and Families at High Risk of Breast/Ovarian Cancer Completed NCT00040222
5 French Digestive Polyposis Cohorte Family Adenomatous Polyposis With APC and MYH Gene Mutations , Cowden's Disease With PTEN Gene Mutation, Peutz Jeghers Disease With STK 11 Gene Mutation ,juvénil Polyposis With SMAD 4 Gene Mutation , Serrated and Hyperpl Recruiting NCT01987518

Search NIH Clinical Center for Cowden Disease

Cochrane evidence based reviews: hamartoma syndrome, multiple

Genetic Tests for Cowden Disease

Genetic tests related to Cowden Disease:

# Genetic test Affiliating Genes
1 Cowden Syndrome 28
2 Lhermitte-Duclos Disease 28

Anatomical Context for Cowden Disease

MalaCards organs/tissues related to Cowden Disease:

38
Breast, Thyroid, Cerebellum, Uterus, Skin, Kidney, Tongue

Publications for Cowden Disease

Articles related to Cowden Disease:

(show top 50) (show all 86)
# Title Authors Year
1
A clinicopathological study of the oral lesions of Cowden disease. ( 27889943 )
2016
2
TESTICULAR LIPOMATOSIS IN COWDEN DISEASE. ( 27004353 )
2015
3
Postoperative Dural Arteriovenous Fistula in a Patient with Cowden Disease: A Case Report. ( 23680687 )
2013
4
Cowden disease and multicystic dysplastic kidney: increased risk of renal cancer? ( 26019827 )
2012
5
Case 175: Testicular lipomatosis in Cowden disease. ( 22012908 )
2011
6
Enhanced lymphocyte interferon (IFN)-I^ responses in a PTEN mutation-negative Cowden disease kindred. ( 21361912 )
2011
7
Testicular hamartomas and epididymal tumor in a cowden disease: a case report. ( 20589082 )
2010
8
Type 2 segmental Cowden disease vs. Proteus syndrome: reply from authors. ( 17999697 )
2008
9
Contribution of PTEN large rearrangements in Cowden disease: a multiplex amplifiable probe hybridisation (MAPH) screening approach. ( 18456716 )
2008
10
Skin abnormalities in individuals with macrocephaly: Cowden disease from a dermatologist's point of view. ( 18986487 )
2008
11
Testicular mixed germ cell tumor in an adolescent with cowden disease. ( 18160807 )
2007
12
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
13
Pten loss in the mouse thyroid causes goiter and follicular adenomas: insights into thyroid function and Cowden disease pathogenesis. ( 17283127 )
2007
14
Storiform collagenoma as a clue for Cowden disease or PTEN hamartoma tumour syndrome. ( 17513505 )
2007
15
Cowden disease: a review. ( 17394437 )
2007
16
Type 2 segmental Cowden disease vs. Proteus syndrome. ( 17388921 )
2007
17
What is your diagnosis? Cowden disease (multiple hamartoma syndrome). ( 16903316 )
2006
18
Multiple hyperechoic testicular lesions are a common finding on ultrasound in Cowden disease and represent lipomatosis of the testis. ( 16980675 )
2006
19
Cowden disease and Lhermitte-Duclos disease: an update. Case report and review of the literature. ( 16459996 )
2006
20
Cowden disease. ( 16377335 )
2006
21
Cowden disease in a family: a clinical and genetic diagnosis. ( 16021145 )
2005
22
Cowden disease: CT findings in three patients. ( 15812679 )
2005
23
Lhermitte-Duclos disease and Cowden disease: clinical and genetic study in five patients with Lhermitte-Duclos disease and literature review. ( 15197611 )
2004
24
Cowden disease with Lhermitte-Duclos disease: case report. ( 15595264 )
2004
25
Testicular hamartomas in Cowden disease. ( 14595739 )
2003
26
A novel loss-of-function mutation (N48K) in the PTEN gene in a Spanish patient with Cowden disease. ( 14675182 )
2003
27
Novel germline mutation of the PTEN gene in a Japanese family with Cowden disease. ( 12560928 )
2003
28
Retinal angioma in a patient with Cowden disease. ( 12614768 )
2003
29
Cowden disease or multiple hamartoma syndrome--cutaneous clue to internal malignancy. ( 12370126 )
2002
30
Identification of germline mutation of PTEN gene and analysis of apoptosis resistance of the lymphocytes in a patient with Cowden disease. ( 12415190 )
2002
31
Activation of a cryptic splice site of PTEN and loss of heterozygosity in benign skin lesions in Cowden disease. ( 11886535 )
2001
32
Breast cancer, Cowden disease and PTEN-MATCHS syndrome. ( 11520097 )
2001
33
[Cowden disease and the PTEN gene: a successfully clinical and biological combined approach]. ( 11792608 )
2001
34
Lhermitte duclos disease and Cowden disease: clinical, pathological and neuroimaging study of a case. ( 11327294 )
2000
35
Mutation analysis of the PTEN / MMAC1 gene in Japanese patients with Cowden disease. ( 10920277 )
2000
36
A novel 5' (4041insA) mutation in a patient with numerous manifestations of Cowden disease. ( 10777358 )
2000
37
[Cowden disease]. ( 10921327 )
2000
38
A novel PTEN mutation in a Japanese patient with Cowden disease. ( 10848731 )
2000
39
Accelerated decline of blood glucose after intravenous glucose injection in a patient with Cowden disease having a heterozygous germline mutation of the PTEN/MMAC1 gene. ( 10928124 )
2000
40
Cowden disease and Lhermitte-Duclos disease: characterization of a new phakomatosis. ( 10690726 )
2000
41
Filiform polyposis of the small bowel in a patient with multiple hamartoma syndrome (Cowden disease). ( 10430165 )
1999
42
Cowden disease: a cutaneous marker for increased risk of breast cancer. ( 9930780 )
1999
43
Linkage analysis of 56 multiplex families excludes the Cowden disease gene PTEN as a major contributor to familial breast cancer. ( 10507734 )
1999
44
Novel PTEN mutations in patients with Cowden disease: absence of clear genotype-phenotype correlations. ( 10234502 )
1999
45
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
46
Transcatheter embolization of arteriovenous malformations in Cowden disease. ( 10475785 )
1999
47
Cowden disease and Lhermitte Duclos disease, markers of breast carcinoma: report of two patients. ( 10586343 )
1999
48
Variant manifestation of Cowden disease in Japan: hamartomatous polyposis of the digestive tract with mutation of the PTEN gene. ( 9915974 )
1999
49
A novel germline mutation of the PTEN/MMAC1 gene in a patient with Cowden disease. ( 10606430 )
1999
50
Thyroid pathologic findings in patients with Cowden disease. ( 10594284 )
1999

Variations for Cowden Disease

ClinVar genetic disease variations for Cowden Disease:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 PTEN NM_000314.6(PTEN): c.335T> C (p.Leu112Pro) single nucleotide variant Pathogenic rs121909230 GRCh37 Chromosome 10, 89692851: 89692851
2 CD96 CD96, EXONIC BREAKPOINT undetermined variant Pathogenic
3 CD96 NM_198196.2(CD96): c.839C> T (p.Thr280Met) single nucleotide variant Pathogenic rs119477056 GRCh37 Chromosome 3, 111304209: 111304209
4 PTEN NM_000314.6(PTEN): c.469G> T (p.Glu157Ter) single nucleotide variant Pathogenic rs121909220 GRCh37 Chromosome 10, 89692985: 89692985
5 PTEN NM_000314.6(PTEN): c.118G> T (p.Glu40Ter) single nucleotide variant Pathogenic rs869312778 GRCh38 Chromosome 10, 87894063: 87894063
6 PTEN NM_000314.6(PTEN): c.344A> G (p.Asp115Gly) single nucleotide variant Likely pathogenic rs869312775 GRCh38 Chromosome 10, 87933103: 87933103
7 PTEN NM_000314.6(PTEN): c.408T> G (p.Cys136Trp) single nucleotide variant Likely pathogenic rs869312776 GRCh38 Chromosome 10, 87933167: 87933167
8 PTEN NM_000314.6(PTEN): c.424delC (p.Arg142Glyfs) deletion Pathogenic rs869312779 GRCh38 Chromosome 10, 87933183: 87933183
9 PTEN NM_000314.6(PTEN): c.486C> G (p.Asp162Glu) single nucleotide variant Likely pathogenic rs869312777 GRCh38 Chromosome 10, 87933245: 87933245
10 PTEN NM_000314.6(PTEN): c.767_768delAG (p.Glu256Valfs) deletion Pathogenic rs869312780 GRCh38 Chromosome 10, 87957985: 87957986

Expression for Cowden Disease

Search GEO for disease gene expression data for Cowden Disease.

Pathways for Cowden Disease

Pathways related to Cowden Disease according to GeneCards Suite gene sharing:

(show all 35)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.93 AKT1 BRCA1 PIK3CA PTEN STK11 TSC2
2
Show member pathways
12.81 AKT1 BRCA1 BRCA2 PIK3CA PTEN RET
3 12.71 AKT1 BRCA2 PIK3CA PTEN RET SMAD4
4
Show member pathways
12.62 AKT1 BRCA1 BRCA2 PIK3CA PTEN SMAD4
5
Show member pathways
12.38 AKT1 PIK3CA STK11 TSC2
6
Show member pathways
12.38 AKT1 PIK3CA PTEN STK11 TSC2
7
Show member pathways
12.36 AKT1 PIK3CA STK11 TSC2
8
Show member pathways
12.33 AKT1 PIK3CA PTEN TSC2
9 12.1 AKT1 PIK3CA PTEN TSC2
10
Show member pathways
12.07 AKT1 BRCA2 PIK3CA SMAD4
11
Show member pathways
12.06 AKT1 PIK3CA STK11 TSC2
12
Show member pathways
12.03 AKT1 PIK3CA PTEN TSC2
13 11.99 AKT1 BMPR1A PIK3CA SMAD4
14 11.96 AKT1 PTEN STK11 TSC2
15 11.86 AKT1 PIK3CA PTEN SMAD4
16 11.81 AKT1 PIK3CA PTEN
17
Show member pathways
11.79 AKT1 PIK3CA PTEN SMAD4 STK11
18 11.76 AKT1 PTEN TSC2
19
Show member pathways
11.75 AKT1 PIK3CA RET
20 11.72 AKT1 PIK3CA PTEN TSC2
21 11.69 AKT1 BRCA1 PTEN SMAD4
22 11.68 AKT1 BRCA1 PIK3CA
23 11.68 AKT1 PIK3CA SEC23B
24 11.66 AKT1 PIK3CA PTEN STK11 TSC2
25 11.59 BRCA1 SMAD4 TSC2
26 11.53 AKT1 PIK3CA PTEN
27 11.53 AKT1 PIK3CA PTEN
28 11.52 AKT1 BRCA1 PIK3CA PTEN
29 11.5 AKT1 PIK3CA STK11
30 11.49 AKT1 BRCA1 SMAD4
31 11.48 AKT1 PIK3CA PTEN RET
32 11.43 AKT1 BRCA1 PTEN
33 11.41 AKT1 BMPR1A BRCA1 BRCA2 PTEN SMAD4
34 11.36 SMAD4 STK11 TSC2
35 10.73 AKT1 PIK3CA PTEN TSC2

GO Terms for Cowden Disease

Cellular components related to Cowden Disease according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 respiratory chain complex II GO:0045273 8.96 SDHB SDHC
2 mitochondrial respiratory chain complex II, succinate dehydrogenase complex (ubiquinone) GO:0005749 8.8 SDHB SDHC SDHD

Biological processes related to Cowden Disease according to GeneCards Suite gene sharing:

(show all 22)
# Name GO ID Score Top Affiliating Genes
1 protein phosphorylation GO:0006468 9.97 AKT1 BMPR1A CALCA PIK3CA RET STK11
2 negative regulation of cell proliferation GO:0008285 9.95 CDKN3 PTEN SMAD4 STK11 TSC2
3 positive regulation of transcription, DNA-templated GO:0045893 9.95 AKT1 BMPR1A BRCA1 BRCA2 RET SMAD4
4 cell cycle arrest GO:0007050 9.76 CDKN3 KLLN STK11 TSC2
5 activation of protein kinase activity GO:0032147 9.73 CALCA PIK3CA STK11
6 negative regulation of protein kinase B signaling GO:0051898 9.7 AKT1 PTEN TSC2
7 insulin-like growth factor receptor signaling pathway GO:0048009 9.61 AKT1 TSC2
8 positive regulation of SMAD protein import into nucleus GO:0060391 9.6 BMPR1A SMAD4
9 negative regulation of macroautophagy GO:0016242 9.59 AKT1 PIK3CA
10 positive regulation of cAMP metabolic process GO:0030816 9.58 CALCA CHGA
11 negative regulation of phosphatidylinositol 3-kinase signaling GO:0014067 9.58 PTEN TSC2
12 negative regulation of cell size GO:0045792 9.57 AKT1 PTEN
13 positive regulation of histone H3-K9 acetylation GO:2000617 9.54 BRCA1 SMAD4
14 cellular response to nerve growth factor stimulus GO:1990090 9.54 AKT1 CALCA PTEN
15 mitochondrial electron transport, succinate to ubiquinone GO:0006121 9.51 SDHC SDHD
16 endothelial cell migration GO:0043542 9.5 CALCA PIK3CA PTEN
17 cellular response to decreased oxygen levels GO:0036294 9.43 AKT1 PTEN
18 tricarboxylic acid cycle GO:0006099 9.43 SDHB SDHC SDHD
19 chordate embryonic development GO:0043009 9.4 BRCA1 BRCA2
20 vasculature development GO:0001944 9.33 CALCA PIK3CA STK11
21 protein kinase B signaling GO:0043491 9.26 AKT1 PIK3CA PTEN TSC2
22 anoikis GO:0043276 8.92 AKT1 PIK3CA STK11 TSC2

Molecular functions related to Cowden Disease according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 electron transfer activity GO:0009055 9.43 SDHB SDHC SDHD
2 ubiquinone binding GO:0048039 9.16 SDHB SDHD
3 succinate dehydrogenase (ubiquinone) activity GO:0008177 8.96 SDHB SDHD
4 succinate dehydrogenase activity GO:0000104 8.62 SDHC SDHD

Sources for Cowden Disease

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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