MCID: CWD001
MIFTS: 65

Cowden Disease

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

Aliases & Classifications for Cowden Disease

MalaCards integrated aliases for Cowden Disease:

Name: Cowden Disease 12 50 25 56 52 14
Cowden Syndrome 72 50 24 25 56 29
Multiple Hamartoma Syndrome 12 50 25 56
Lhermitte-Duclos Disease 12 50 69
Hamartoma Syndrome, Multiple 42 69
Cowden's Disease 50 25
Mham 50 25
Cd 50 25
Cs 50 25
Dysplastic Gangliocytoma of the Cerebellum 50
Dysplastic Gangliocytoma of Cerebellum 12
Cowden's Syndrome 25

Characteristics:

Orphanet epidemiological data:

56
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 : 50 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 bannayan-riley-ruvalcaba syndrome and cockayne 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 Pathways in cancer. The drugs Everolimus and Miconazole have been mentioned in the context of this disorder. Affiliated tissues include breast, thyroid and cerebellum, and related phenotypes are Decreased viability and endocrine/exocrine gland

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

Wikipedia : 72 Cowden syndrome (also known as \"Cowden\'s disease\" and \"multiple hamartoma syndrome\") is a rare... more...

Related Diseases for Cowden Disease

Diseases in the Cowden Disease family:

Cowden Syndrome 2 Cowden Syndrome 5
Cowden Syndrome 4 Cowden Syndrome 1
Cowden Syndrome 3 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 138)
id Related Disease Score Top Affiliating Genes
1 bannayan-riley-ruvalcaba syndrome 30.7 CD96 PTEN
2 cockayne syndrome 11.6
3 xeroderma pigmentosum, group d 11.5
4 chanarin-dorfman syndrome 11.3
5 epilepsy occipital calcifications 11.3
6 castleman disease 11.2
7 chromosome 16p12.1 deletion syndrome, 520kb 11.1 BMPR1A PTEN
8 conduct disorder 11.1
9 oppositional defiant disorder 11.1
10 conversion disorder 11.1
11 cowden syndrome 4 11.0 BMPR1A PTEN
12 childhood mediastinal neurogenic tumor 10.9 CALCA TG
13 fibroepithelial polyp of the anus 10.9 PIK3CA PTEN
14 sensory system cancer 10.8 CHGA STK11
15 lung occult small cell carcinoma 10.8 CHGA STK11
16 fibroepithelial polyp of urethra 10.8 CHGA STK11
17 cowden syndrome 1 10.8
18 congenital granular cell tumor 10.8 CALCA CHGA TG
19 parietal lobe neoplasm 10.8 CALCA CHGA TG
20 epidural abscess 10.8 CHGA PTEN TG
21 brachyolmia 10.8 CALCA CHGA PTEN
22 corneal ectasia 10.8 CALCA TG
23 myelinoclastic diffuse sclerosis 10.7 PIK3CA PTEN STK11
24 brca2-related fanconi anemia 10.7 BMPR1A SMAD4
25 cervical endometrial stromal sarcoma 10.7 CALCA TG
26 gastric cancer, somatic 10.7
27 polyposis, juvenile intestinal 10.7
28 prostate cancer, hereditary, x-linked 1 10.7 AKT1 PTEN STK11
29 medullomyoblastoma 10.7 AKT1 CHGA PTEN
30 papular mucinosis 10.6 PIK3CA SDHD
31 skin benign neoplasm 10.6 PIK3CA PTEN SDHB
32 primitive neuroectodermal tumor of the corpus uteri 10.6 BRCA1 BRCA2
33 cowden syndrome 6 10.6 AKT1 CDKN3 PIK3CA PTEN
34 baraitser-winter cerebrofrontofacial syndrome 10.5 BRCA1 BRCA2
35 bronchopulmonary dysplasia 10.5 BRCA1 BRCA2
36 cutaneous lupus erythematosus 10.5 BRCA1 BRCA2
37 glioma susceptibility 2 10.5 BMPR1A CDKN3 PTEN SMAD4
38 brown-vialetto-van laere syndrome 10.5 AKT1 CHGA PTEN
39 autoimmune disease of blood 10.5 BRCA1 BRCA2
40 carcinoid tumors, intestinal 10.5 SDHB SDHC SDHD
41 neurogenic hypertension 10.5 SDHB SDHC SDHD
42 selective immunoglobulin deficiency disease 10.5 BRCA1 BRCA2
43 rete ovarii cystadenoma 10.5 SDHB SDHC SDHD
44 paraganglioma and gastric stromal sarcoma 10.5 SDHB SDHC SDHD
45 uterine corpus endometrial carcinoma 10.5 SDHB SDHC SDHD
46 glomerulosclerosis, focal segmental, 7 10.5 BMPR1A PTEN SMAD4 STK11
47 mercaptolactate-cysteine disulfiduria 10.5 SDHB SDHC SDHD
48 nodular prostate 10.5 CALCA RET TG
49 congenital heart defects, hamartomas of tongue, and polysyndactyly 10.5 PTEN STK11 TSC2
50 tibia absent polydactyly arachnoid cyst 10.5 PIK3CA RET TG

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:

56 32 (show top 50) (show all 58)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 abnormality of the penis 56 32 frequent (33%) Frequent (79-30%) HP:0000036
2 macroglossia 56 32 frequent (33%) Frequent (79-30%) HP:0000158
3 high palate 56 32 occasional (7.5%) Occasional (29-5%) HP:0000218
4 furrowed tongue 56 32 frequent (33%) Frequent (79-30%) HP:0000221
5 macrocephaly 56 32 frequent (33%) Frequent (79-30%) HP:0000256
6 hearing impairment 56 32 occasional (7.5%) Occasional (29-5%) HP:0000365
7 cataract 56 32 occasional (7.5%) Occasional (29-5%) HP:0000518
8 myopia 56 32 occasional (7.5%) Occasional (29-5%) HP:0000545
9 autism 56 32 occasional (7.5%) Occasional (29-5%) HP:0000717
10 pectus excavatum 56 32 occasional (7.5%) Occasional (29-5%) HP:0000767
11 gynecomastia 56 32 occasional (7.5%) Occasional (29-5%) HP:0000771
12 goiter 56 32 hallmark (90%) Very frequent (99-80%) HP:0000853
13 palmoplantar keratoderma 56 32 hallmark (90%) Very frequent (99-80%) HP:0000982
14 melanocytic nevus 56 32 frequent (33%) Frequent (79-30%) HP:0000995
15 cavernous hemangioma 56 32 frequent (33%) Frequent (79-30%) HP:0001048
16 hypopigmented skin patches 56 32 occasional (7.5%) Occasional (29-5%) HP:0001053
17 intellectual disability 56 32 frequent (33%) Frequent (79-30%) HP:0001249
18 seizures 56 32 occasional (7.5%) Occasional (29-5%) HP:0001250
19 ataxia 56 32 frequent (33%) Frequent (79-30%) HP:0001251
20 global developmental delay 56 32 frequent (33%) Frequent (79-30%) HP:0001263
21 subcutaneous nodule 56 32 frequent (33%) Frequent (79-30%) HP:0001482
22 failure to thrive 56 32 occasional (7.5%) Occasional (29-5%) HP:0001508
23 increased intracranial pressure 56 32 occasional (7.5%) Occasional (29-5%) HP:0002516
24 scoliosis 56 32 occasional (7.5%) Occasional (29-5%) HP:0002650
25 kyphosis 56 32 occasional (7.5%) Occasional (29-5%) HP:0002808
26 meningioma 56 32 frequent (33%) Frequent (79-30%) HP:0002858
27 melanoma 56 32 occasional (7.5%) Occasional (29-5%) HP:0002861
28 breast carcinoma 56 32 hallmark (90%) Very frequent (99-80%) HP:0003002
29 short stature 56 32 occasional (7.5%) Occasional (29-5%) HP:0004322
30 hamartomatous polyposis 56 32 frequent (33%) Frequent (79-30%) HP:0004390
31 cellular immunodeficiency 56 32 occasional (7.5%) Occasional (29-5%) HP:0005374
32 renal cell carcinoma 56 32 occasional (7.5%) Occasional (29-5%) HP:0005584
33 generalized hyperkeratosis 56 32 hallmark (90%) Very frequent (99-80%) HP:0005595
34 follicular thyroid carcinoma 56 32 occasional (7.5%) Occasional (29-5%) HP:0006731
35 multiple cafe-au-lait spots 56 32 occasional (7.5%) Occasional (29-5%) HP:0007565
36 enlarged polycystic ovaries 56 32 occasional (7.5%) Occasional (29-5%) HP:0008675
37 adenoma sebaceum 56 32 frequent (33%) Frequent (79-30%) HP:0009720
38 lipoma 56 32 frequent (33%) Frequent (79-30%) HP:0012032
39 bone cyst 56 32 occasional (7.5%) Occasional (29-5%) HP:0012062
40 endometrial carcinoma 56 32 occasional (7.5%) Occasional (29-5%) HP:0012114
41 macule 56 32 hallmark (90%) Very frequent (99-80%) HP:0012733
42 papilloma 56 32 hallmark (90%) Very frequent (99-80%) HP:0012740
43 cognitive impairment 56 32 frequent (33%) Frequent (79-30%) HP:0100543
44 mucosal telangiectasiae 56 32 frequent (33%) Frequent (79-30%) HP:0100579
45 conjunctival hamartoma 56 32 hallmark (90%) Very frequent (99-80%) HP:0100780
46 papule 56 32 hallmark (90%) Very frequent (99-80%) HP:0200034
47 colorectal polyposis 56 32 hallmark (90%) Very frequent (99-80%) HP:0200063
48 abnormality of the kidney 56 Occasional (29-5%)
49 abnormality of the uterus 56 Occasional (29-5%)
50 abnormality of the thyroid gland 56 Frequent (79-30%)

UMLS symptoms related to Cowden Disease:


seizures, action tremor

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

26
id 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 BMPR1A PIK3CA RET SDHD AKT1
3 Decreased viability GR00221-A-2 10.67 BMPR1A BRCA1 PIK3CA RET SDHD AKT1
4 Decreased viability GR00221-A-3 10.67 AKT1 BMPR1A BRCA1
5 Decreased viability GR00221-A-4 10.67 BMPR1A PIK3CA RET SDHD AKT1
6 Decreased viability GR00231-A 10.67 RET
7 Decreased viability GR00301-A 10.67 BRCA1 RET
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:

44 (show all 16)
id Description MGI Source Accession Score Top Affiliating Genes
1 endocrine/exocrine gland MP:0005379 10.39 AKT1 BMPR1A BRCA1 BRCA2 CHGA PIK3CA
2 behavior/neurological MP:0005386 10.34 SMAD4 STK11 TSC2 AKT1 BMPR1A BRCA1
3 growth/size/body region MP:0005378 10.34 AKT1 BMPR1A BRCA1 BRCA2 CHGA PIK3CA
4 cardiovascular system MP:0005385 10.33 AKT1 BMPR1A BRCA1 CHGA PIK3CA PTEN
5 cellular MP:0005384 10.31 AKT1 BMPR1A BRCA1 BRCA2 PIK3CA PTEN
6 homeostasis/metabolism MP:0005376 10.3 SMAD4 STK11 TG TSC2 AKT1 BMPR1A
7 mortality/aging MP:0010768 10.28 CHGA PIK3CA PTEN RET SDHB SDHC
8 embryo MP:0005380 10.26 AKT1 BMPR1A BRCA1 BRCA2 PIK3CA PTEN
9 hematopoietic system MP:0005397 10.22 SEC23B SMAD4 STK11 TG TSC2 AKT1
10 neoplasm MP:0002006 10.1 STK11 TSC2 AKT1 BMPR1A BRCA1 BRCA2
11 integument MP:0010771 10.09 AKT1 BMPR1A BRCA1 BRCA2 PIK3CA PTEN
12 nervous system MP:0003631 10.03 AKT1 BMPR1A BRCA1 BRCA2 PIK3CA PTEN
13 muscle MP:0005369 9.97 AKT1 BMPR1A BRCA1 PIK3CA PTEN RET
14 normal MP:0002873 9.93 TSC2 AKT1 BMPR1A BRCA1 BRCA2 PTEN
15 renal/urinary system MP:0005367 9.5 PTEN RET SMAD4 STK11 TSC2 BRCA1
16 reproductive system MP:0005389 9.36 AKT1 BMPR1A BRCA1 BRCA2 CHGA PIK3CA

Drugs & Therapeutics for Cowden Disease

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

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

Interventional clinical trials:


id 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 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
5 Clinical, Genetic, Behavioral, Laboratory and Epidemiologic Characterization of Individuals and Families at High Risk of Breast/Ovarian Cancer Active, not recruiting NCT00040222

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:

id Genetic test Affiliating Genes
1 Cowden Syndrome 29 24 PTEN

Anatomical Context for Cowden Disease

MalaCards organs/tissues related to Cowden Disease:

39
Breast, Thyroid, Cerebellum, Uterus, Skin, Kidney, Tongue

Publications for Cowden Disease

Articles related to Cowden Disease:

(show top 50) (show all 86)
id 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
Enhanced lymphocyte interferon (IFN)-I^ responses in a PTEN mutation-negative Cowden disease kindred. ( 21361912 )
2011
6
Case 175: Testicular lipomatosis in Cowden disease. ( 22012908 )
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
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
Type 2 segmental Cowden disease vs. Proteus syndrome. ( 17388921 )
2007
13
Cowden disease: a review. ( 17394437 )
2007
14
Pten loss in the mouse thyroid causes goiter and follicular adenomas: insights into thyroid function and Cowden disease pathogenesis. ( 17283127 )
2007
15
Testicular mixed germ cell tumor in an adolescent with cowden disease. ( 18160807 )
2007
16
Storiform collagenoma as a clue for Cowden disease or PTEN hamartoma tumour syndrome. ( 17513505 )
2007
17
Cowden disease and Lhermitte-Duclos disease: an update. Case report and review of the literature. ( 16459996 )
2006
18
What is your diagnosis? Cowden disease (multiple hamartoma syndrome). ( 16903316 )
2006
19
Multiple hyperechoic testicular lesions are a common finding on ultrasound in Cowden disease and represent lipomatosis of the testis. ( 16980675 )
2006
20
Cowden disease. ( 16377335 )
2006
21
Cowden disease: CT findings in three patients. ( 15812679 )
2005
22
Cowden disease in a family: a clinical and genetic diagnosis. ( 16021145 )
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
Retinal angioma in a patient with Cowden disease. ( 12614768 )
2003
26
A novel loss-of-function mutation (N48K) in the PTEN gene in a Spanish patient with Cowden disease. ( 14675182 )
2003
27
Testicular hamartomas in Cowden disease. ( 14595739 )
2003
28
Novel germline mutation of the PTEN gene in a Japanese family with Cowden disease. ( 12560928 )
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
[Cowden disease and the PTEN gene: a successfully clinical and biological combined approach]. ( 11792608 )
2001
32
Breast cancer, Cowden disease and PTEN-MATCHS syndrome. ( 11520097 )
2001
33
Activation of a cryptic splice site of PTEN and loss of heterozygosity in benign skin lesions in Cowden disease. ( 11886535 )
2001
34
A novel PTEN mutation in a Japanese patient with Cowden disease. ( 10848731 )
2000
35
Cowden disease and Lhermitte-Duclos disease: characterization of a new phakomatosis. ( 10690726 )
2000
36
Mutation analysis of the PTEN / MMAC1 gene in Japanese patients with Cowden disease. ( 10920277 )
2000
37
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
38
[Cowden disease]. ( 10921327 )
2000
39
A novel 5' (4041insA) mutation in a patient with numerous manifestations of Cowden disease. ( 10777358 )
2000
40
Lhermitte duclos disease and Cowden disease: clinical, pathological and neuroimaging study of a case. ( 11327294 )
2000
41
Cowden disease: a cutaneous marker for increased risk of breast cancer. ( 9930780 )
1999
42
Linkage analysis of 56 multiplex families excludes the Cowden disease gene PTEN as a major contributor to familial breast cancer. ( 10507734 )
1999
43
Thyroid pathologic findings in patients with Cowden disease. ( 10594284 )
1999
44
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
45
Novel PTEN mutations in patients with Cowden disease: absence of clear genotype-phenotype correlations. ( 10234502 )
1999
46
Transcatheter embolization of arteriovenous malformations in Cowden disease. ( 10475785 )
1999
47
Variant manifestation of Cowden disease in Japan: hamartomatous polyposis of the digestive tract with mutation of the PTEN gene. ( 9915974 )
1999
48
Filiform polyposis of the small bowel in a patient with multiple hamartoma syndrome (Cowden disease). ( 10430165 )
1999
49
Cowden disease and Lhermitte Duclos disease, markers of breast carcinoma: report of two patients. ( 10586343 )
1999
50
A novel germline mutation of the PTEN/MMAC1 gene in a patient with Cowden disease. ( 10606430 )
1999

Variations for Cowden Disease

ClinVar genetic disease variations for Cowden Disease:

6
id Gene Variation Type Significance SNP ID Assembly Location
1 CD96 CD96, EXONIC BREAKPOINT undetermined variant Pathogenic
2 CD96 NM_198196.2(CD96): c.839C> T (p.Thr280Met) single nucleotide variant Pathogenic rs119477056 GRCh37 Chromosome 3, 111304209: 111304209
3 PTEN NM_000314.6(PTEN): c.469G> T (p.Glu157Ter) single nucleotide variant Pathogenic rs121909220 GRCh37 Chromosome 10, 89692985: 89692985
4 PTEN NM_000314.6(PTEN): c.335T> C (p.Leu112Pro) single nucleotide variant Pathogenic rs121909230 GRCh37 Chromosome 10, 89692851: 89692851
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 32)
id Super pathways Score Top Affiliating Genes
1 12.62 AKT1 BRCA1 PIK3CA PTEN STK11 TSC2
2 12.51 AKT1 BRCA2 PIK3CA PTEN RET SMAD4
3
Show member pathways
12.38 AKT1 PIK3CA PTEN STK11 TSC2
4
Show member pathways
12.37 AKT1 PIK3CA STK11 TSC2
5
Show member pathways
12.36 AKT1 BRCA1 BRCA2 PIK3CA PTEN RET
6
Show member pathways
12.35 AKT1 PIK3CA STK11 TSC2
7
Show member pathways
12.32 AKT1 PIK3CA PTEN TSC2
8
Show member pathways
12.05 AKT1 PIK3CA STK11 TSC2
9
Show member pathways
12.02 AKT1 PIK3CA PTEN TSC2
10 11.98 AKT1 BMPR1A PIK3CA SMAD4
11 11.96 AKT1 PTEN STK11 TSC2
12 11.86 AKT1 PIK3CA PTEN SMAD4
13
Show member pathways
11.79 AKT1 PIK3CA PTEN SMAD4 STK11
14 11.76 AKT1 PIK3CA PTEN
15 11.75 AKT1 PTEN TSC2
16 11.74 AKT1 BRCA1 PTEN SMAD4
17
Show member pathways
11.73 AKT1 PIK3CA RET
18 11.7 AKT1 PIK3CA PTEN TSC2
19 11.67 AKT1 BRCA1 PIK3CA
20 11.66 AKT1 PIK3CA SEC23B
21 11.66 AKT1 PIK3CA PTEN STK11 TSC2
22 11.58 BRCA1 SMAD4 TSC2
23 11.51 AKT1 PIK3CA PTEN
24 11.51 AKT1 PIK3CA PTEN
25 11.49 AKT1 BRCA1 PIK3CA PTEN
26 11.48 AKT1 PIK3CA STK11
27 11.47 AKT1 BRCA1 SMAD4
28 11.44 AKT1 PIK3CA PTEN RET
29 11.41 AKT1 BRCA1 PTEN
30 11.41 AKT1 BMPR1A BRCA1 BRCA2 PTEN SMAD4
31 11.35 SMAD4 STK11 TSC2
32 10.73 AKT1 PIK3CA PTEN TSC2

GO Terms for Cowden Disease

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

id 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)
id Name GO ID Score Top Affiliating Genes
1 protein phosphorylation GO:0006468 9.99 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 9.71 CALCA PIK3CA STK11
6 regulation of myelination GO:0031641 9.61 AKT1 TG
7 insulin-like growth factor receptor signaling pathway GO:0048009 9.6 AKT1 TSC2
8 negative regulation of macroautophagy GO:0016242 9.59 AKT1 PIK3CA
9 positive regulation of SMAD protein import into nucleus GO:0060391 9.58 BMPR1A SMAD4
10 negative regulation of phosphatidylinositol 3-kinase signaling GO:0014067 9.57 PTEN TSC2
11 negative regulation of cell size GO:0045792 9.56 AKT1 PTEN
12 cellular response to nerve growth factor stimulus GO:1990090 9.54 AKT1 CALCA PTEN
13 positive regulation of histone H3-K9 acetylation GO:2000617 9.52 BRCA1 SMAD4
14 endothelial cell migration GO:0043542 9.5 CALCA PIK3CA PTEN
15 cellular response to decreased oxygen levels GO:0036294 9.43 AKT1 PTEN
16 tricarboxylic acid cycle GO:0006099 9.43 SDHB SDHC SDHD
17 chordate embryonic development GO:0043009 9.4 BRCA1 BRCA2
18 vasculature development GO:0001944 9.33 CALCA PIK3CA STK11
19 positive regulation of cAMP metabolic process GO:0030816 9.28 CHGA
20 protein kinase B signaling GO:0043491 9.26 AKT1 PIK3CA PTEN TSC2
21 mitochondrial electron transport, succinate to ubiquinone GO:0006121 9.19 SDHD
22 anoikis GO:0043276 8.92 AKT1 PIK3CA STK11 TSC2

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

id Name GO ID Score Top Affiliating Genes
1 electron carrier 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
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 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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