CD
MCID: CWD001
MIFTS: 64

Cowden Disease (CD) malady

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

Aliases & Classifications for Cowden Disease

Aliases & Descriptions for Cowden Disease:

Name: Cowden Disease 12 50 25 56 52 14
Cowden Syndrome 71 50 24 25 56
Multiple Hamartoma Syndrome 12 50 25 56
Lhermitte-Duclos Disease 12 50 69
Hamartoma Syndrome, Multiple 42 69
Cowden's Syndrome 25 29
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

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:



External Ids:

Disease Ontology 12 DOID:6457
MeSH 42 D006223
NCIt 47 C3076 C8419
SNOMED-CT 64 58037000 67944007
Orphanet 56 ORPHA201
MESH via Orphanet 43 D006223
UMLS via Orphanet 70 C0018553
ICD10 via Orphanet 34 Q85.8

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 cockayne syndrome and xeroderma pigmentosum, group d, and has symptoms including ataxia, seizures and macule. An important gene associated with Cowden Disease is PTEN (Phosphatase And Tensin Homolog), and among its related pathways/superpathways are Glioma and Pathways in cancer. The drugs Vaccines and Miconazole have been mentioned in the context of this disorder. Affiliated tissues include thyroid, breast 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 : 71 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 127)
id Related Disease Score Top Affiliating Genes
1 cockayne syndrome 11.6
2 xeroderma pigmentosum, group d 11.5
3 chanarin-dorfman syndrome 11.3
4 castleman disease 11.2
5 conduct disorder 11.1
6 oppositional defiant disorder 11.1
7 cowden syndrome 1 10.8
8 gastric cancer, somatic 10.7
9 polyposis, juvenile intestinal 10.7
10 chromosome 16p12.1 deletion syndrome, 520kb 10.4 BMPR1A PTEN
11 rhizomelic dysplasia, patterson-lowry type 10.4 BMPR1A PTEN
12 endophthalmitis 10.4 CALCA TG
13 uterine corpus choriocarcinoma 10.3 PIK3CA PTEN
14 perineural angioma 10.3 CALCA CHGA TG
15 parietal lobe neoplasm 10.3 CALCA CHGA TG
16 epidural abscess 10.3 CHGA PTEN TG
17 neurological consequences of cytomegalovirus infection 10.3 PIK3CA PTEN STK11
18 c5orf42-related joubert syndrome 10.3 BMPR1A SMAD4
19 peritoneal benign neoplasm 10.3 CHGA STK11
20 keratosis linearis with ichthyosis congenita and sclerosing keratoderma 10.3 BRCA2 PIK3CA
21 papillary adenoma 10.3 PIK3CA PTEN SDHB
22 dystonia 10.3 CHGA STK11
23 prostate cancer, hereditary, x-linked 1 10.2 AKT1 PTEN STK11
24 aorto-ventricular tunnel 10.2 BRCA1 BRCA2
25 gastrinoma 10.2 CALCA RET TG
26 neuropathy, congenital, with arthrogryposis multiplex 10.2 SDHB SDHC SDHD
27 anal canal paget's disease 10.2 CHGA STK11
28 paraganglioma and gastric stromal sarcoma 10.2 SDHB SDHC SDHD
29 amaurosis congenita, cone-rod type, with congenital hypertrichosis 10.2 SDHB SDHC SDHD
30 bronchogenic cyst 10.2 BRCA1 BRCA2 PTEN
31 bronchiectasis oligospermia 10.2 BRCA1 BRCA2 PTEN
32 glomerulosclerosis, focal segmental, 7 10.2 BMPR1A PTEN SMAD4 STK11
33 serous surface papilloma 10.2 SDHB SDHC SDHD
34 glycogen storage disease ic 10.2 SDHB SDHC SDHD
35 villoglandular endometrial endometrioid adenocarcinoma 10.2 BRCA1 BRCA2 PTEN
36 nodular prostate 10.2 CALCA RET TG
37 neurofibromatosis-noonan syndrome 10.2 SDHB SDHC SDHD
38 polyembryoma of the ovary 10.2 BRCA1 BRCA2 PTEN
39 burn scar 10.2 BRCA1 BRCA2
40 urinary tract papillary transitional cell benign neoplasm 10.2 CALCA CHGA RET
41 hypothalamic adipsic hypernatraemia syndrome 10.2 BMPR1A BRCA2 SMAD4
42 frontal sinusitis 10.2 BRCA1 BRCA2 TG
43 kunjin encephalitis 10.2 BRCA1 BRCA2
44 carotenemia 10.2 SDHB SDHC SDHD
45 lethal congenital contracture syndrome 7 10.2 BRCA1 BRCA2
46 cellular ependymoma 10.2 BRCA1 BRCA2 TG
47 peritoneal serous papillary adenocarcinoma 10.2 CALCA PTEN RET TG
48 parathyroid carcinoma 10.2 CALCA CHGA RET
49 autoimmune hemolytic anemia 10.2 CALCA RET TG
50 catastrophic antiphospholipid syndrome 10.2 RET SDHB SDHD

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 57)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 ataxia 56 32 Frequent (79-30%) HP:0001251
2 seizures 56 32 Occasional (29-5%) HP:0001250
3 macule 56 32 Very frequent (99-80%) HP:0012733
4 macrocephaly 56 32 Frequent (79-30%) HP:0000256
5 pectus excavatum 56 32 Occasional (29-5%) HP:0000767
6 high palate 56 32 Occasional (29-5%) HP:0000218
7 intellectual disability 56 32 Frequent (79-30%) HP:0001249
8 failure to thrive 56 32 Occasional (29-5%) HP:0001508
9 scoliosis 56 32 Occasional (29-5%) HP:0002650
10 kyphosis 56 32 Occasional (29-5%) HP:0002808
11 macroglossia 56 32 Frequent (79-30%) HP:0000158
12 hearing impairment 56 32 Occasional (29-5%) HP:0000365
13 cataract 56 32 Occasional (29-5%) HP:0000518
14 global developmental delay 56 32 Frequent (79-30%) HP:0001263
15 increased intracranial pressure 56 32 Occasional (29-5%) HP:0002516
16 short stature 56 32 Occasional (29-5%) HP:0004322
17 cognitive impairment 56 32 Frequent (79-30%) HP:0100543
18 subcutaneous nodule 56 32 Frequent (79-30%) HP:0001482
19 generalized hyperkeratosis 56 32 Very frequent (99-80%) HP:0005595
20 palmoplantar keratoderma 56 32 Very frequent (99-80%) HP:0000982
21 cavernous hemangioma 56 32 Frequent (79-30%) HP:0001048
22 autism 56 32 Occasional (29-5%) HP:0000717
23 melanocytic nevus 56 32 Frequent (79-30%) HP:0000995
24 goiter 56 32 Very frequent (99-80%) HP:0000853
25 hypopigmented skin patches 56 32 Occasional (29-5%) HP:0001053
26 myopia 56 32 Occasional (29-5%) HP:0000545
27 mucosal telangiectasiae 56 32 Frequent (79-30%) HP:0100579
28 renal cell carcinoma 56 32 Occasional (29-5%) HP:0005584
29 cellular immunodeficiency 56 32 Occasional (29-5%) HP:0005374
30 multiple cafe-au-lait spots 56 32 Occasional (29-5%) HP:0007565
31 brachydactyly syndrome 56 32 Occasional (29-5%) HP:0001156
32 gynecomastia 56 32 Occasional (29-5%) HP:0000771
33 breast carcinoma 56 32 Very frequent (99-80%) HP:0003002
34 meningioma 56 32 Frequent (79-30%) HP:0002858
35 papule 56 32 Very frequent (99-80%) HP:0200034
36 melanoma 56 32 Occasional (29-5%) HP:0002861
37 enlarged polycystic ovaries 56 32 Occasional (29-5%) HP:0008675
38 colorectal polyposis 56 32 Very frequent (99-80%) HP:0200063
39 abnormality of the penis 56 32 Frequent (79-30%) HP:0000036
40 furrowed tongue 56 32 Frequent (79-30%) HP:0000221
41 hamartomatous polyposis 56 32 Frequent (79-30%) HP:0004390
42 follicular thyroid carcinoma 56 32 Occasional (29-5%) HP:0006731
43 adenoma sebaceum 56 32 Frequent (79-30%) HP:0009720
44 lipoma 56 32 Frequent (79-30%) HP:0012032
45 bone cyst 56 32 Occasional (29-5%) HP:0012062
46 endometrial carcinoma 56 32 Occasional (29-5%) HP:0012114
47 papilloma 56 32 Very frequent (99-80%) HP:0012740
48 conjunctival hamartoma 56 32 Very frequent (99-80%) HP:0100780
49 neoplasm 56 Frequent (79-30%)
50 abnormality of the kidney 56 Occasional (29-5%)

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 PIK3CA RET SDHD AKT1 BMPR1A
3 Decreased viability GR00221-A-2 10.67 PIK3CA RET SDHD AKT1 BMPR1A BRCA1
4 Decreased viability GR00221-A-3 10.67 AKT1 BMPR1A BRCA1
5 Decreased viability GR00221-A-4 10.67 PIK3CA RET SDHD AKT1 BMPR1A
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 9.1 BMPR1A RET SDHD SMAD4 STK11 TNS1

MGI Mouse Phenotypes related to Cowden Disease:

44 (show all 17)
id Description MGI Source Accession Score Top Affiliating Genes
1 endocrine/exocrine gland MP:0005379 10.4 AKT1 BMPR1A BRCA1 BRCA2 CHGA PIK3CA
2 behavior/neurological MP:0005386 10.38 TSC2 AKT1 BMPR1A BRCA1 BRCA2 PIK3CA
3 cardiovascular system MP:0005385 10.37 RET SDHB SDHD SMAD4 STK11 TNS1
4 cellular MP:0005384 10.36 AKT1 BMPR1A BRCA1 BRCA2 PIK3CA PTEN
5 growth/size/body region MP:0005378 10.36 AKT1 BMPR1A BRCA1 BRCA2 CHGA PIK3CA
6 homeostasis/metabolism MP:0005376 10.32 AKT1 BMPR1A BRCA1 BRCA2 CHGA PIK3CA
7 embryo MP:0005380 10.28 STK11 TSC2 AKT1 BMPR1A BRCA1 BRCA2
8 mortality/aging MP:0010768 10.28 AKT1 BMPR1A BRCA1 BRCA2 CHGA PIK3CA
9 hematopoietic system MP:0005397 10.24 RET SEC23B SMAD4 STK11 TG TSC2
10 immune system MP:0005387 10.2 AKT1 BMPR1A BRCA1 BRCA2 PIK3CA PTEN
11 neoplasm MP:0002006 10.1 BRCA1 BRCA2 PIK3CA PTEN RET SDHB
12 integument MP:0010771 10.09 AKT1 BMPR1A BRCA1 BRCA2 PIK3CA PTEN
13 nervous system MP:0003631 10.03 AKT1 BMPR1A BRCA1 BRCA2 PIK3CA PTEN
14 muscle MP:0005369 9.97 AKT1 BMPR1A BRCA1 PIK3CA PTEN RET
15 normal MP:0002873 9.93 AKT1 BMPR1A BRCA1 BRCA2 PTEN RET
16 renal/urinary system MP:0005367 9.56 PTEN RET SMAD4 STK11 TNS1 TSC2
17 reproductive system MP:0005389 9.4 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 12)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1 Vaccines Phase 3,Phase 1
2
Miconazole Approved, Investigational, Vet_approved Phase 2 22916-47-8 4189
3
Everolimus Approved Phase 2 159351-69-6 6442177
4
Sirolimus Approved, Investigational Phase 2 53123-88-9 5284616 6436030 46835353
5 Anti-Bacterial Agents Phase 2
6 Anti-Infective Agents Phase 2
7 Immunosuppressive Agents Phase 2
8 Fluorodeoxyglucose F18 Phase 2
9 Antifungal Agents Phase 2
10 Radiopharmaceuticals Phase 2
11 Antibiotics, Antitubercular Phase 2
12
Trastuzumab Approved, Investigational Phase 1 180288-69-1 9903

Interventional clinical trials:


id Name Status NCT ID Phase
1 Immunogenicity and Safety of Liquid Bivalent Oral Poliomyelitis Vaccine Completed NCT02434770 Phase 3
2 Sirolimus to Treat Cowden Syndrome and Other PTEN Hamartomatous Tumor Syndromes Completed NCT00971789 Phase 2
3 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
4 A Phase I/II Study of BEZ235 in Patients With Advanced Solid Malignancies Enriched by Patients With Advanced Breast Cancer Completed NCT00620594 Phase 1
5 Trial of a Falciparum Malaria Protein (FMP012), E. Coli-expressed PfCelTOS, in Healthy Malaria-Naive Adults Completed NCT01540474 Phase 1
6 Talking Card for Asthma Completed NCT02041013
7 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
8 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
Thyroid, Breast, 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
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
Contribution of PTEN large rearrangements in Cowden disease: a multiplex amplifiable probe hybridisation (MAPH) screening approach. ( 18456716 )
2008
9
Type 2 segmental Cowden disease vs. Proteus syndrome: reply from authors. ( 17999697 )
2008
10
Skin abnormalities in individuals with macrocephaly: Cowden disease from a dermatologist's point of view. ( 18986487 )
2008
11
Type 2 segmental Cowden disease vs. Proteus syndrome. ( 17388921 )
2007
12
Cowden disease: a review. ( 17394437 )
2007
13
Storiform collagenoma as a clue for Cowden disease or PTEN hamartoma tumour syndrome. ( 17513505 )
2007
14
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
15
Testicular mixed germ cell tumor in an adolescent with cowden disease. ( 18160807 )
2007
16
Pten loss in the mouse thyroid causes goiter and follicular adenomas: insights into thyroid function and Cowden disease pathogenesis. ( 17283127 )
2007
17
What is your diagnosis? Cowden disease (multiple hamartoma syndrome). ( 16903316 )
2006
18
Cowden disease and Lhermitte-Duclos disease: an update. Case report and review of the literature. ( 16459996 )
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 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
A novel loss-of-function mutation (N48K) in the PTEN gene in a Spanish patient with Cowden disease. ( 14675182 )
2003
26
Novel germline mutation of the PTEN gene in a Japanese family with Cowden disease. ( 12560928 )
2003
27
Testicular hamartomas in Cowden disease. ( 14595739 )
2003
28
Retinal angioma in a patient with Cowden disease. ( 12614768 )
2003
29
Identification of germline mutation of PTEN gene and analysis of apoptosis resistance of the lymphocytes in a patient with Cowden disease. ( 12415190 )
2002
30
Cowden disease or multiple hamartoma syndrome--cutaneous clue to internal malignancy. ( 12370126 )
2002
31
Breast cancer, Cowden disease and PTEN-MATCHS syndrome. ( 11520097 )
2001
32
Activation of a cryptic splice site of PTEN and loss of heterozygosity in benign skin lesions in Cowden disease. ( 11886535 )
2001
33
[Cowden disease and the PTEN gene: a successfully clinical and biological combined approach]. ( 11792608 )
2001
34
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
35
Cowden disease and Lhermitte-Duclos disease: characterization of a new phakomatosis. ( 10690726 )
2000
36
A novel 5' (4041insA) mutation in a patient with numerous manifestations of Cowden disease. ( 10777358 )
2000
37
[Cowden disease]. ( 10921327 )
2000
38
Mutation analysis of the PTEN / MMAC1 gene in Japanese patients with Cowden disease. ( 10920277 )
2000
39
A novel PTEN mutation in a Japanese patient with Cowden disease. ( 10848731 )
2000
40
Lhermitte duclos disease and Cowden disease: clinical, pathological and neuroimaging study of a case. ( 11327294 )
2000
41
Variant manifestation of Cowden disease in Japan: hamartomatous polyposis of the digestive tract with mutation of the PTEN gene. ( 9915974 )
1999
42
Novel PTEN mutations in patients with Cowden disease: absence of clear genotype-phenotype correlations. ( 10234502 )
1999
43
A novel germline mutation of the PTEN/MMAC1 gene in a patient with Cowden disease. ( 10606430 )
1999
44
Cowden disease: a cutaneous marker for increased risk of breast cancer. ( 9930780 )
1999
45
Thyroid pathologic findings in patients with Cowden disease. ( 10594284 )
1999
46
Linkage analysis of 56 multiplex families excludes the Cowden disease gene PTEN as a major contributor to familial breast cancer. ( 10507734 )
1999
47
Transcatheter embolization of arteriovenous malformations in Cowden disease. ( 10475785 )
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
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

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 35)
id Super pathways Score Top Affiliating Genes
1
Show member pathways
12.96 AKT1 BRCA1 BRCA2 PIK3CA PTEN TSC2
2 12.51 AKT1 BRCA2 PIK3CA PTEN RET SMAD4
3 12.42 AKT1 BRCA1 PIK3CA PTEN STK11 TSC2
4
Show member pathways
12.39 AKT1 PIK3CA PTEN STK11 TSC2
5
Show member pathways
12.38 AKT1 PIK3CA STK11 TSC2
6
Show member pathways
12.36 AKT1 PIK3CA STK11 TSC2
7
Show member pathways
12.33 AKT1 PIK3CA PTEN TSC2
8
Show member pathways
12.25 AKT1 PIK3CA PTEN SMAD4 TSC2
9
Show member pathways
12.06 AKT1 PIK3CA STK11 TSC2
10
Show member pathways
12.04 AKT1 PIK3CA PTEN TSC2
11
Show member pathways
12 AKT1 BRCA2 PIK3CA SMAD4
12 11.99 AKT1 BMPR1A PIK3CA SMAD4
13 11.97 AKT1 PTEN STK11 TSC2
14 11.87 AKT1 PIK3CA PTEN SMAD4
15
Show member pathways
11.79 AKT1 PIK3CA PTEN SMAD4 STK11
16 11.76 AKT1 PTEN TSC2
17 11.75 AKT1 PIK3CA PTEN
18
Show member pathways
11.74 AKT1 PIK3CA RET
19 11.74 AKT1 BRCA1 PTEN SMAD4
20 11.7 AKT1 PIK3CA PTEN TSC2
21 11.68 AKT1 BRCA1 PIK3CA
22 11.67 AKT1 PIK3CA SEC23B
23 11.66 AKT1 PIK3CA PTEN STK11 TSC2
24 11.58 BRCA1 SMAD4 TSC2
25 11.53 AKT1 PIK3CA PTEN
26 11.52 AKT1 PIK3CA PTEN
27 11.5 AKT1 PIK3CA STK11
28 11.49 AKT1 BRCA1 PIK3CA PTEN
29 11.48 AKT1 BRCA1 SMAD4
30 11.44 AKT1 PIK3CA PTEN RET
31 11.43 AKT1 BRCA1 PTEN
32 11.41 AKT1 BMPR1A BRCA1 BRCA2 PTEN SMAD4
33 11.37 SMAD4 STK11 TSC2
34
Show member pathways
11.16 AKT1 PIK3CA SMAD4
35 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 lateral element GO:0000800 9.16 BRCA1 BRCA2
2 respiratory chain complex II GO:0045273 8.96 SDHB SDHC
3 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 20)
id Name GO ID Score Top Affiliating Genes
1 protein phosphorylation GO:0006468 9.99 AKT1 BMPR1A CALCA PIK3CA RET STK11
2 positive regulation of transcription, DNA-templated GO:0045893 9.95 AKT1 BMPR1A BRCA1 BRCA2 RET SMAD4
3 negative regulation of cell proliferation GO:0008285 9.93 CDKN3 PTEN SMAD4 STK11 TSC2
4 cell cycle arrest GO:0007050 9.76 CDKN3 KLLN STK11 TSC2
5 activation of protein kinase activity GO:0032147 9.67 CALCA PIK3CA STK11
6 insulin-like growth factor receptor signaling pathway GO:0048009 9.59 AKT1 TSC2
7 regulation of myelination GO:0031641 9.58 AKT1 TG
8 negative regulation of macroautophagy GO:0016242 9.58 AKT1 PIK3CA
9 positive regulation of SMAD protein import into nucleus GO:0060391 9.57 BMPR1A SMAD4
10 negative regulation of cell size GO:0045792 9.56 AKT1 PTEN
11 negative regulation of phosphatidylinositol 3-kinase signaling GO:0014067 9.55 PTEN TSC2
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 tricarboxylic acid cycle GO:0006099 9.5 SDHB SDHC SDHD
15 cellular response to decreased oxygen levels GO:0036294 9.43 AKT1 PTEN
16 endothelial cell migration GO:0043542 9.43 CALCA PIK3CA PTEN
17 chordate embryonic development GO:0043009 9.4 BRCA1 BRCA2
18 vasculature development GO:0001944 9.33 CALCA PIK3CA STK11
19 protein kinase B signaling GO:0043491 9.26 AKT1 PIK3CA PTEN TSC2
20 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

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