MCID: CWD010
MIFTS: 68

Cowden Syndrome

Categories: Cancer diseases, Cardiovascular diseases, Eye diseases, Fetal diseases, Gastrointestinal diseases, Genetic diseases, Neuronal diseases, Rare diseases, Skin diseases

Aliases & Classifications for Cowden Syndrome

MalaCards integrated aliases for Cowden Syndrome:

Name: Cowden Syndrome 12 77 54 26 60 38 30 6 15 41
Lhermitte-Duclos Disease 12 77 54 30 6
Cowden Disease 12 54 26 60 56
Multiple Hamartoma Syndrome 12 54 26 60
Cowden's Disease 77 54 26
Mham 54 26
Cs 54 26
Cd 54 26
Dysplastic Gangliocytoma of the Cerebellum 54
Dysplastic Gangliocytoma of Cerebellum 12
Hamartoma Syndrome, Multiple 45
Cowden's Syndrome 26

Characteristics:

Orphanet epidemiological data:

60
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 Syndrome

NIH Rare Diseases : 54 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.

MalaCards based summary : Cowden Syndrome, also known as lhermitte-duclos disease, is related to cowden syndrome 1 and proteus syndrome, and has symptoms including seizures, action tremor and cerebellar ataxia. An important gene associated with Cowden Syndrome is PTEN (Phosphatase And Tensin Homolog), and among its related pathways/superpathways are Focal Adhesion and Endometrial cancer. The drugs Miconazole and Sirolimus have been mentioned in the context of this disorder. Affiliated tissues include breast, thyroid and cerebellum, and related phenotypes are generalized hyperkeratosis and palmoplantar keratoderma

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.

Genetics Home Reference : 26 Cowden syndrome is a disorder characterized by multiple noncancerous, tumor-like growths called hamartomas and an increased risk of developing certain cancers.

Wikipedia : 77 Cowden syndrome (also known as Cowden''s disease and multiple hamartoma syndrome) is an autosomal... more...

Related Diseases for Cowden Syndrome

Diseases in the Cowden Syndrome family:

Cowden Syndrome 1 Cowden Syndrome 4
Cowden Syndrome 5 Cowden Syndrome 6
Cowden Syndrome 7

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

(show top 50) (show all 616)
# Related Disease Score Top Affiliating Genes
1 cowden syndrome 1 34.0 AKT1 BMPR1A CDKN3 EGFR KLLN PTEN
2 proteus syndrome 32.7 AKT1 CDKN3 PIK3CA PTEN
3 gastric cancer 31.8 AKT1 EGFR MIR21 PIK3CA PTEN SMAD4
4 medulloblastoma 31.1 AKT1 BRCA2 EGFR MIR19A PIK3CA PTEN
5 neurofibromatosis, type iv, of riccardi 30.8 SDHB SDHC SDHD
6 lipomatosis 30.8 PIK3CA PTEN SDHB
7 juvenile polyposis syndrome 30.6 BMPR1A PTEN SMAD4
8 endometrial cancer 30.5 AKT1 BRCA2 CDKN3 EGFR PIK3CA PTEN
9 adenocarcinoma 30.3 AKT1 EGFR PIK3CA PTEN SMAD4
10 peutz-jeghers syndrome 30.2 BRCA2 PTEN SMAD4
11 glioblastoma multiforme 30.2 AKT1 EGFR MIR21 PIK3CA PTEN
12 li-fraumeni syndrome 30.1 BRCA2 EGFR PTEN
13 von hippel-lindau syndrome 30.1 SDHB SDHC SDHD
14 gastric adenocarcinoma 30.1 AKT1 EGFR PIK3CA PTEN SMAD4
15 macrocephaly/autism syndrome 30.1 KLLN PTEN
16 squamous cell carcinoma 30.0 AKT1 EGFR PIK3CA PTEN SMAD4
17 breast cancer 30.0 AKT1 BMPR1A BRCA2 CDKN3 EGFR KLLN
18 glioblastoma 30.0 AKT1 BRCA2 EGFR MIR21 PIK3CA PTEN
19 small cell cancer of the lung 29.9 AKT1 EGFR MIR21 PIK3CA PTEN
20 gastrointestinal stromal tumor 29.9 AKT1 EGFR PTEN SDHB SDHC SDHD
21 ovarian cancer 29.8 AKT1 BRCA2 EGFR MIR21 PIK3CA PTEN
22 glioma 29.7 BRCA2 EGFR MIR19A MIR21 PIK3CA PTEN
23 pancreatic cancer 29.5 AKT1 BRCA2 EGFR MIR21 PIK3CA SMAD4
24 hepatocellular carcinoma 29.4 AKT1 CDKN3 EGFR MIR19A MIR21 PIK3CA
25 prostate cancer 29.0 AKT1 BRCA2 CDKN3 EGFR MIR21 PIK3CA
26 cowden syndrome 7 12.6
27 cowden syndrome 4 12.5
28 cowden syndrome 5 12.5
29 cowden syndrome 6 12.5
30 cockayne syndrome 11.9
31 xeroderma pigmentosum, complementation group g 11.8
32 castleman disease 11.8
33 chanarin-dorfman syndrome 11.8
34 xeroderma pigmentosum, complementation group d 11.7
35 xeroderma pigmentosum, complementation group f 11.7
36 xeroderma pigmentosum, complementation group b 11.7
37 epilepsy occipital calcifications 11.6
38 primary pigmented nodular adrenocortical disease 11.5
39 acth-independent macronodular adrenal hyperplasia 11.5
40 conduct disorder 11.4
41 cardiogenic shock 11.4
42 thyroxine-binding globulin quantitative trait locus 11.4
43 oppositional defiant disorder 11.4
44 conversion disorder 11.4
45 cockayne syndrome a 11.3
46 diabetes mellitus, noninsulin-dependent 11.3
47 mucopolysaccharidosis, type vii 11.3
48 mitochondrial metabolism disease 11.3
49 cerebrooculofacioskeletal syndrome 1 11.2
50 body mass index quantitative trait locus 11 11.2

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



Diseases related to Cowden Syndrome

Symptoms & Phenotypes for Cowden Syndrome

Human phenotypes related to Cowden Syndrome:

60 33 (show top 50) (show all 58)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 generalized hyperkeratosis 60 33 hallmark (90%) Very frequent (99-80%) HP:0005595
2 palmoplantar keratoderma 60 33 hallmark (90%) Very frequent (99-80%) HP:0000982
3 goiter 60 33 hallmark (90%) Very frequent (99-80%) HP:0000853
4 macule 60 33 hallmark (90%) Very frequent (99-80%) HP:0012733
5 breast carcinoma 60 33 hallmark (90%) Very frequent (99-80%) HP:0003002
6 papule 60 33 hallmark (90%) Very frequent (99-80%) HP:0200034
7 colorectal polyposis 60 33 hallmark (90%) Very frequent (99-80%) HP:0200063
8 papilloma 60 33 hallmark (90%) Very frequent (99-80%) HP:0012740
9 conjunctival hamartoma 60 33 hallmark (90%) Very frequent (99-80%) HP:0100780
10 macrocephaly 60 33 frequent (33%) Frequent (79-30%) HP:0000256
11 intellectual disability 60 33 frequent (33%) Frequent (79-30%) HP:0001249
12 ataxia 60 33 frequent (33%) Frequent (79-30%) HP:0001251
13 macroglossia 60 33 frequent (33%) Frequent (79-30%) HP:0000158
14 global developmental delay 60 33 frequent (33%) Frequent (79-30%) HP:0001263
15 cognitive impairment 60 33 frequent (33%) Frequent (79-30%) HP:0100543
16 subcutaneous nodule 60 33 frequent (33%) Frequent (79-30%) HP:0001482
17 cavernous hemangioma 60 33 frequent (33%) Frequent (79-30%) HP:0001048
18 melanocytic nevus 60 33 frequent (33%) Frequent (79-30%) HP:0000995
19 mucosal telangiectasiae 60 33 frequent (33%) Frequent (79-30%) HP:0100579
20 meningioma 60 33 frequent (33%) Frequent (79-30%) HP:0002858
21 abnormality of the penis 60 33 frequent (33%) Frequent (79-30%) HP:0000036
22 furrowed tongue 60 33 frequent (33%) Frequent (79-30%) HP:0000221
23 hamartomatous polyposis 60 33 frequent (33%) Frequent (79-30%) HP:0004390
24 adenoma sebaceum 60 33 frequent (33%) Frequent (79-30%) HP:0009720
25 lipoma 60 33 frequent (33%) Frequent (79-30%) HP:0012032
26 pectus excavatum 60 33 occasional (7.5%) Occasional (29-5%) HP:0000767
27 high palate 60 33 occasional (7.5%) Occasional (29-5%) HP:0000218
28 seizures 60 33 occasional (7.5%) Occasional (29-5%) HP:0001250
29 failure to thrive 60 33 occasional (7.5%) Occasional (29-5%) HP:0001508
30 scoliosis 60 33 occasional (7.5%) Occasional (29-5%) HP:0002650
31 kyphosis 60 33 occasional (7.5%) Occasional (29-5%) HP:0002808
32 hearing impairment 60 33 occasional (7.5%) Occasional (29-5%) HP:0000365
33 cataract 60 33 occasional (7.5%) Occasional (29-5%) HP:0000518
34 increased intracranial pressure 60 33 occasional (7.5%) Occasional (29-5%) HP:0002516
35 short stature 60 33 occasional (7.5%) Occasional (29-5%) HP:0004322
36 autism 60 33 occasional (7.5%) Occasional (29-5%) HP:0000717
37 myopia 60 33 occasional (7.5%) Occasional (29-5%) HP:0000545
38 melanoma 60 33 occasional (7.5%) Occasional (29-5%) HP:0002861
39 hypopigmented skin patches 60 33 occasional (7.5%) Occasional (29-5%) HP:0001053
40 renal cell carcinoma 60 33 occasional (7.5%) Occasional (29-5%) HP:0005584
41 cellular immunodeficiency 60 33 occasional (7.5%) Occasional (29-5%) HP:0005374
42 multiple cafe-au-lait spots 60 33 occasional (7.5%) Occasional (29-5%) HP:0007565
43 brachydactyly 60 33 occasional (7.5%) Occasional (29-5%) HP:0001156
44 gynecomastia 60 33 occasional (7.5%) Occasional (29-5%) HP:0000771
45 enlarged polycystic ovaries 60 33 occasional (7.5%) Occasional (29-5%) HP:0008675
46 follicular thyroid carcinoma 60 33 occasional (7.5%) Occasional (29-5%) HP:0006731
47 bone cyst 60 33 occasional (7.5%) Occasional (29-5%) HP:0012062
48 endometrial carcinoma 60 33 occasional (7.5%) Occasional (29-5%) HP:0012114
49 abnormal cerebellum morphology 33 occasional (7.5%) HP:0001317
50 neoplasm 60 Frequent (79-30%)

UMLS symptoms related to Cowden Syndrome:


seizures, action tremor, cerebellar ataxia

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

27 (show all 40)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased viability GR00055-A-2 10.54 EGFR PIK3CA
2 Decreased viability GR00221-A-1 10.54 AKT1 BMPR1A EGFR PIK3CA SDHD
3 Decreased viability GR00221-A-2 10.54 AKT1 BMPR1A PIK3CA SDHD
4 Decreased viability GR00221-A-3 10.54 AKT1 BMPR1A
5 Decreased viability GR00221-A-4 10.54 AKT1 BMPR1A EGFR PIK3CA SDHD
6 Decreased viability GR00381-A-1 10.54 SDHD
7 Decreased viability GR00402-S-2 10.54 AKT1 BMPR1A EGFR PIK3CA SDHD
8 Increased shRNA abundance (Z-score > 2) GR00366-A-107 9.92 SMAD4
9 Increased shRNA abundance (Z-score > 2) GR00366-A-11 9.92 SMAD4
10 Increased shRNA abundance (Z-score > 2) GR00366-A-116 9.92 PIK3CA
11 Increased shRNA abundance (Z-score > 2) GR00366-A-151 9.92 PTEN
12 Increased shRNA abundance (Z-score > 2) GR00366-A-152 9.92 PTEN
13 Increased shRNA abundance (Z-score > 2) GR00366-A-157 9.92 PIK3CA
14 Increased shRNA abundance (Z-score > 2) GR00366-A-16 9.92 AKT1 PIK3CA PTEN
15 Increased shRNA abundance (Z-score > 2) GR00366-A-166 9.92 PIK3CA
16 Increased shRNA abundance (Z-score > 2) GR00366-A-168 9.92 PTEN
17 Increased shRNA abundance (Z-score > 2) GR00366-A-177 9.92 AKT1 PIK3CA
18 Increased shRNA abundance (Z-score > 2) GR00366-A-182 9.92 USF2
19 Increased shRNA abundance (Z-score > 2) GR00366-A-190 9.92 PIK3CA
20 Increased shRNA abundance (Z-score > 2) GR00366-A-195 9.92 SMAD4
21 Increased shRNA abundance (Z-score > 2) GR00366-A-21 9.92 SMAD4
22 Increased shRNA abundance (Z-score > 2) GR00366-A-214 9.92 PTEN
23 Increased shRNA abundance (Z-score > 2) GR00366-A-25 9.92 SMAD4
24 Increased shRNA abundance (Z-score > 2) GR00366-A-35 9.92 USF2
25 Increased shRNA abundance (Z-score > 2) GR00366-A-42 9.92 AKT1 PIK3CA PTEN SMAD4 USF2
26 Increased shRNA abundance (Z-score > 2) GR00366-A-43 9.92 SMAD4
27 Increased shRNA abundance (Z-score > 2) GR00366-A-46 9.92 SMAD4
28 Increased shRNA abundance (Z-score > 2) GR00366-A-49 9.92 PIK3CA
29 Increased shRNA abundance (Z-score > 2) GR00366-A-50 9.92 AKT1
30 Increased shRNA abundance (Z-score > 2) GR00366-A-54 9.92 SMAD4
31 Increased shRNA abundance (Z-score > 2) GR00366-A-63 9.92 PTEN USF2
32 Increased shRNA abundance (Z-score > 2) GR00366-A-70 9.92 AKT1
33 Increased shRNA abundance (Z-score > 2) GR00366-A-73 9.92 SMAD4
34 Increased shRNA abundance (Z-score > 2) GR00366-A-74 9.92 SMAD4
35 Increased shRNA abundance (Z-score > 2) GR00366-A-79 9.92 AKT1
36 Increased shRNA abundance (Z-score > 2) GR00366-A-81 9.92 SMAD4
37 Increased shRNA abundance (Z-score > 2) GR00366-A-85 9.92 AKT1 USF2
38 Increased shRNA abundance (Z-score > 2) GR00366-A-93 9.92 PTEN
39 Decreased sensitivity to paclitaxel GR00112-A-0 9.26 PTEN SMAD4
40 Increased mitotic index GR00110-A-0 9.26 BMPR1A SDHD SMAD4 TNS1

MGI Mouse Phenotypes related to Cowden Syndrome:

47
# Description MGI Source Accession Score Top Affiliating Genes
1 homeostasis/metabolism MP:0005376 10.15 AKT1 BMPR1A BRCA2 EGFR PIK3CA PTEN
2 endocrine/exocrine gland MP:0005379 10.13 AKT1 BMPR1A BRCA2 EGFR PIK3CA PTEN
3 embryo MP:0005380 10.11 AKT1 BMPR1A BRCA2 EGFR PIK3CA PTEN
4 hematopoietic system MP:0005397 10.1 AKT1 BMPR1A BRCA2 EGFR PTEN SDHB
5 mortality/aging MP:0010768 10.07 AKT1 BMPR1A BRCA2 EGFR PIK3CA PTEN
6 integument MP:0010771 9.97 AKT1 BMPR1A BRCA2 EGFR PIK3CA PTEN
7 neoplasm MP:0002006 9.85 AKT1 BMPR1A BRCA2 EGFR PIK3CA PTEN
8 normal MP:0002873 9.65 AKT1 BMPR1A BRCA2 EGFR PTEN SDHB
9 reproductive system MP:0005389 9.32 AKT1 BMPR1A BRCA2 EGFR PIK3CA PTEN

Drugs & Therapeutics for Cowden Syndrome

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

(show all 14)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Miconazole Approved, Investigational, Vet_approved Phase 2 22916-47-8 4189
2
Sirolimus Approved, Investigational Phase 2 53123-88-9 46835353 5284616 6436030
3
Everolimus Approved Phase 2 159351-69-6 70789204 6442177
4 Fluorodeoxyglucose F18 Phase 2
5 Anti-Bacterial Agents Phase 2
6 Anti-Infective Agents Phase 2
7 Immunosuppressive Agents Phase 2
8 Immunologic Factors Phase 2
9 Antibiotics, Antitubercular Phase 2
10 Antifungal Agents Phase 2
11 Radiopharmaceuticals Phase 2
12
Trastuzumab Approved, Investigational Phase 1 180288-69-1 9903
13 Dactolisib Investigational Phase 1 915019-65-7
14 Antineoplastic Agents, Immunological Phase 1

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 Hyperplastic Polyposis Recruiting NCT01987518
6 Liquid Biopsy Evaluation and Repository Development at Princess Margaret Recruiting NCT03702309

Search NIH Clinical Center for Cowden Syndrome

Cochrane evidence based reviews: hamartoma syndrome, multiple

Genetic Tests for Cowden Syndrome

Genetic tests related to Cowden Syndrome:

# Genetic test Affiliating Genes
1 Cowden Syndrome 30
2 Lhermitte-Duclos Disease 30

Anatomical Context for Cowden Syndrome

MalaCards organs/tissues related to Cowden Syndrome:

42
Breast, Thyroid, Cerebellum, Bone, Skin, Uterus, Ovary

Publications for Cowden Syndrome

Articles related to Cowden Syndrome:

(show top 50) (show all 451)
# Title Authors Year
1
Lhermitte-Duclos Disease with Cervical Arteriovenous Fistula. ( 30517962 )
2019
2
Undifferentiated pleomorphic sarcoma in a patient with Cowden syndrome after radiotherapy for breast cancer. ( 30047560 )
2019
3
Variable expressivity and novel PTEN mutations in Cowden syndrome. ( 30316882 )
2019
4
Ovarian Clear Cell Carcinoma in Cowden Syndrome. ( 30659124 )
2019
5
Endometrial Endometrioid Carcinoma With Ovarian Metastasis Showing Morula-like Features in a Patient With Cowden Syndrome: A Case Report. ( 30676432 )
2019
6
A case of Cowden syndrome associated with melanoma: the role of the dermatologist. ( 30717572 )
2019
7
Is Malignant Germ-Cell Tumor Associated With Cowden Syndrome? ( 30733184 )
2019
8
Giant cerebral aneurysm in a patient with Cowden syndrome treated with surgical clipping; a case report. ( 30904793 )
2019
9
Bilateral Recurrent Dysplastic Cerebellar Gangliocytoma (Lhermitte Duclos Disease) in Cowden Syndrome: A Case Report and Literature Review. ( 30905649 )
2019
10
Cowden syndrome caused by a novel mutation: Endoscopy aided diagnosis. ( 30952542 )
2019
11
Cowden syndrome: gastrointestinal manifestations of an infrequent polyposis. ( 31096272 )
2019
12
Clinical Perspective on Dysplastic Gangliocytoma of the Cerebellum (Lhermitte-Duclos Disease). ( 30366139 )
2019
13
Lhermitte-Duclos disease: A case report with radiologic-pathologic correlation. ( 30988866 )
2019
14
Spinal Extradural Arteriovenous Fistula with Cowden Syndrome: A Case Report and Literature Review Regarding Pathogenesis and Therapeutic Strategy. ( 30327747 )
2018
15
Unusual presenting manifestation of a rare polyposis, Cowden syndrome. ( 28716492 )
2018
16
Cowden Syndrome with a Novel PTEN Mutation Presenting with Partial Epilepsy Related to Focal Cortical Dysplasia. ( 29033429 )
2018
17
Intramucosal lipomas of the colon implicate Cowden syndrome. ( 29192650 )
2018
18
Tumor-induced osteomalacia in association with PTEN-negative Cowden syndrome. ( 29380000 )
2018
19
Novel Germline PTEN Mutation Associated with Cowden Syndrome and Osteosarcoma. ( 29496690 )
2018
20
Unexpected cancer-predisposition gene variants in Cowden syndrome and Bannayan-Riley-Ruvalcaba syndrome patients without underlying germline PTEN mutations. ( 29684080 )
2018
21
Cowden syndrome. ( 29894252 )
2018
22
Cowden syndrome and pituitary tumours. ( 29931205 )
2018
23
Cowden Syndrome Associated with Severe Periodontal Disease: A Short Literature Review and a Case Report. ( 29946579 )
2018
24
Gastrointestinal: Multiple venous malformations and polyps of the small intestine in Cowden syndrome. ( 29952025 )
2018
25
Neuroimaging abnormalities in patients with Cowden syndrome: Retrospective single-center study. ( 30105160 )
2018
26
Cowden Syndrome: A Cause of Pulmonary Cysts. ( 30142139 )
2018
27
Increased 18F-FDG Uptake in Lhermitte-Duclos Disease With Cowden Syndrome Revealed by PET-MRI. ( 30153148 )
2018
28
Early Onset Multiple Primary Tumors in Atypical Presentation of Cowden Syndrome Identified by Whole-Exome-Sequencing. ( 30233642 )
2018
29
A longitudinally extensive myelopathy associated with multiple spinal arteriovenous fistulas in a patient with Cowden syndrome: a case report. ( 26795104 )
2018
30
Childhood Lhermitte-Duclos Disease Progressing to Medulloblastoma in Bilateral Cerebellar Hemispheres: Report of Unusual Case. ( 29966776 )
2018
31
Lhermitte-Duclos Disease: A Rare Lesion with Variable Presentations and Obscure Histopathology. ( 25371023 )
2018
32
An Unusual Case of Lhermitte-Duclos Disease Manifesting with Intratumoral Hemorrhage. ( 29625313 )
2018
33
Lhermitte-Duclos Disease in a Six-Year Old Child: A Rare Presentation. ( 30304734 )
2018
34
Cowden Syndrome: Serendipitous Diagnosis in Patients with Significant Breast Disease. Case Series and Literature Review. ( 27886412 )
2017
35
Gastrointestinal Polyposis in Cowden Syndrome. ( 27661969 )
2017
36
Multiple clear cell acanthomas and a sebaceous lymphadenoma presenting in a patient with Cowden syndrome - a case report. ( 27682856 )
2017
37
Diffuse Esophageal Glycogenic Acanthosis and Colon Polyposis in a Patient With Cowden Syndrome. ( 28013114 )
2017
38
Lhermitte-Duclos disease associated to Cowden syndrome: de novo diagnosis and management of these extremely rare syndromes in a patient. ( 28137902 )
2017
39
Cowden syndrome-associated germline succinate dehydrogenase complex subunit D (SDHD) variants cause PTEN-mediated down-regulation of autophagy in thyroid cancer cells. ( 28164237 )
2017
40
A Pediatric Case of Cowden Syndrome with Graves' Disease. ( 28251007 )
2017
41
How to recognize Cowden syndrome: A novel PTEN mutation description. ( 28262255 )
2017
42
Intranodal meningothelial proliferation in a patient with Cowden syndrome: a case report. ( 28315423 )
2017
43
Anesthetic Management of a Patient with Cowden Syndrome and Review of Anesthetic Concerns. ( 28372663 )
2017
44
Cowden syndrome: 
Oral presentations of a paraneoplastic syndrome. 
Case report and review of the literature. ( 28396890 )
2017
45
Lhermitte-Duclos Disease (Dysplastic Gangliocytoma of the Cerebellum) and Cowden Syndrome: Clinical Experience From a Single Institution with Long-Term Follow-Up. ( 28479525 )
2017
46
Insertion of Alu elements at a PTEN hotspot in Cowden syndrome. ( 28513612 )
2017
47
Acral Plexiform Palisaded Encapsulated Neuromas as the Initial Cutaneous Manifestation of Cowden Syndrome. ( 28543709 )
2017
48
Characterization of cryptic splicing in germline PTEN intronic variants in Cowden syndrome. ( 28677221 )
2017
49
Optic Nerve Head Drusen as a Rare Manifestation of Cowden Syndrome: Multimodal Imaging. ( 28734331 )
2017
50
Hereditary breast cancer associated with Cowden syndrome-related PTEN mutation with Lhermitte-Duclos disease. ( 28741261 )
2017

Variations for Cowden Syndrome

ClinVar genetic disease variations for Cowden Syndrome:

6 (show top 50) (show all 284)
# Gene Variation Type Significance SNP ID Assembly Location
1 PTEN NM_000314.6(PTEN): c.697C> T (p.Arg233Ter) single nucleotide variant Pathogenic rs121909219 GRCh37 Chromosome 10, 89717672: 89717672
2 PTEN NM_000314.6(PTEN): c.697C> T (p.Arg233Ter) single nucleotide variant Pathogenic rs121909219 GRCh38 Chromosome 10, 87957915: 87957915
3 SDHB NM_003000.2(SDHB): c.8C> G (p.Ala3Gly) single nucleotide variant Conflicting interpretations of pathogenicity rs11203289 GRCh37 Chromosome 1, 17380507: 17380507
4 SDHB NM_003000.2(SDHB): c.8C> G (p.Ala3Gly) single nucleotide variant Conflicting interpretations of pathogenicity rs11203289 GRCh38 Chromosome 1, 17054012: 17054012
5 SDHB NM_003000.2(SDHB): c.487T> C (p.Ser163Pro) single nucleotide variant Conflicting interpretations of pathogenicity rs33927012 GRCh37 Chromosome 1, 17354297: 17354297
6 SDHB NM_003000.2(SDHB): c.487T> C (p.Ser163Pro) single nucleotide variant Conflicting interpretations of pathogenicity rs33927012 GRCh38 Chromosome 1, 17027802: 17027802
7 SDHB NM_003000.2(SDHB): c.32G> A (p.Arg11His) single nucleotide variant Conflicting interpretations of pathogenicity rs111430410 GRCh37 Chromosome 1, 17380483: 17380483
8 SDHB NM_003000.2(SDHB): c.32G> A (p.Arg11His) single nucleotide variant Conflicting interpretations of pathogenicity rs111430410 GRCh38 Chromosome 1, 17053988: 17053988
9 PIK3CA NM_006218.3(PIK3CA): c.3139C> T (p.His1047Tyr) single nucleotide variant Pathogenic rs121913281 GRCh37 Chromosome 3, 178952084: 178952084
10 PIK3CA NM_006218.3(PIK3CA): c.3139C> T (p.His1047Tyr) single nucleotide variant Pathogenic rs121913281 GRCh38 Chromosome 3, 179234296: 179234296
11 SDHB NM_003000.2(SDHB): c.638T> C (p.Met213Thr) single nucleotide variant Uncertain significance rs202014362 GRCh37 Chromosome 1, 17350472: 17350472
12 SDHB NM_003000.2(SDHB): c.638T> C (p.Met213Thr) single nucleotide variant Uncertain significance rs202014362 GRCh38 Chromosome 1, 17023977: 17023977
13 PIK3CA NM_006218.3(PIK3CA): c.3075C> T (p.Thr1025=) single nucleotide variant Benign/Likely benign rs17849079 GRCh37 Chromosome 3, 178952020: 178952020
14 PIK3CA NM_006218.3(PIK3CA): c.3075C> T (p.Thr1025=) single nucleotide variant Benign/Likely benign rs17849079 GRCh38 Chromosome 3, 179234232: 179234232
15 SDHB NM_003000.2(SDHB): c.170A> G (p.His57Arg) single nucleotide variant Benign/Likely benign rs35962811 GRCh38 Chromosome 1, 17044791: 17044791
16 SDHB NM_003000.2(SDHB): c.170A> G (p.His57Arg) single nucleotide variant Benign/Likely benign rs35962811 GRCh37 Chromosome 1, 17371286: 17371286
17 PIK3CA NM_006218.3(PIK3CA): c.3129G> A (p.Met1043Ile) single nucleotide variant Pathogenic/Likely pathogenic rs121913283 GRCh38 Chromosome 3, 179234286: 179234286
18 PIK3CA NM_006218.3(PIK3CA): c.3129G> A (p.Met1043Ile) single nucleotide variant Pathogenic/Likely pathogenic rs121913283 GRCh37 Chromosome 3, 178952074: 178952074
19 PTEN NM_000314.4(PTEN): c.406T> C (p.Cys136Arg) single nucleotide variant Pathogenic rs786201044 GRCh37 Chromosome 10, 89692922: 89692922
20 PTEN NM_000314.4(PTEN): c.406T> C (p.Cys136Arg) single nucleotide variant Pathogenic rs786201044 GRCh38 Chromosome 10, 87933165: 87933165
21 PIK3CA NM_006218.3(PIK3CA): c.3129G> T (p.Met1043Ile) single nucleotide variant Pathogenic rs121913283 GRCh37 Chromosome 3, 178952074: 178952074
22 PIK3CA NM_006218.3(PIK3CA): c.3129G> T (p.Met1043Ile) single nucleotide variant Pathogenic rs121913283 GRCh38 Chromosome 3, 179234286: 179234286
23 PIK3CA NM_006218.3(PIK3CA): c.363C> T (p.Ile121=) single nucleotide variant Benign rs115746478 GRCh37 Chromosome 3, 178917488: 178917488
24 PIK3CA NM_006218.3(PIK3CA): c.363C> T (p.Ile121=) single nucleotide variant Benign rs115746478 GRCh38 Chromosome 3, 179199700: 179199700
25 PTEN NM_000314.6(PTEN): c.118G> T (p.Glu40Ter) single nucleotide variant Pathogenic rs869312778 GRCh38 Chromosome 10, 87894063: 87894063
26 PTEN NM_000314.6(PTEN): c.118G> T (p.Glu40Ter) single nucleotide variant Pathogenic rs869312778 GRCh37 Chromosome 10, 89653820: 89653820
27 PTEN NM_000314.6(PTEN): c.344A> G (p.Asp115Gly) single nucleotide variant Likely pathogenic rs869312775 GRCh38 Chromosome 10, 87933103: 87933103
28 PTEN NM_000314.6(PTEN): c.344A> G (p.Asp115Gly) single nucleotide variant Likely pathogenic rs869312775 GRCh37 Chromosome 10, 89692860: 89692860
29 PTEN NM_000314.6(PTEN): c.408T> G (p.Cys136Trp) single nucleotide variant Likely pathogenic rs869312776 GRCh38 Chromosome 10, 87933167: 87933167
30 PTEN NM_000314.6(PTEN): c.408T> G (p.Cys136Trp) single nucleotide variant Likely pathogenic rs869312776 GRCh37 Chromosome 10, 89692924: 89692924
31 PTEN NM_000314.6(PTEN): c.424delC (p.Arg142Glyfs) deletion Pathogenic rs869312779 GRCh38 Chromosome 10, 87933183: 87933183
32 PTEN NM_000314.6(PTEN): c.424delC (p.Arg142Glyfs) deletion Pathogenic rs869312779 GRCh37 Chromosome 10, 89692940: 89692940
33 PTEN NM_000314.6(PTEN): c.486C> G (p.Asp162Glu) single nucleotide variant Likely pathogenic rs869312777 GRCh38 Chromosome 10, 87933245: 87933245
34 PTEN NM_000314.6(PTEN): c.486C> G (p.Asp162Glu) single nucleotide variant Likely pathogenic rs869312777 GRCh37 Chromosome 10, 89693002: 89693002
35 PTEN NM_000314.6(PTEN): c.767_768delAG (p.Glu256Valfs) deletion Pathogenic rs869312780 GRCh38 Chromosome 10, 87957985: 87957986
36 PTEN NM_000314.6(PTEN): c.767_768delAG (p.Glu256Valfs) deletion Pathogenic rs869312780 GRCh37 Chromosome 10, 89717742: 89717743
37 RINT1 NM_021930.5(RINT1): c.330A> G (p.Ala110=) single nucleotide variant Likely benign rs374658950 GRCh38 Chromosome 7, 105542464: 105542464
38 RINT1 NM_021930.5(RINT1): c.330A> G (p.Ala110=) single nucleotide variant Likely benign rs374658950 GRCh37 Chromosome 7, 105182911: 105182911
39 RINT1 NM_021930.5(RINT1): c.1447A> G (p.Met483Val) single nucleotide variant Uncertain significance rs869312982 GRCh38 Chromosome 7, 105551683: 105551683
40 RINT1 NM_021930.5(RINT1): c.1447A> G (p.Met483Val) single nucleotide variant Uncertain significance rs869312982 GRCh37 Chromosome 7, 105192130: 105192130
41 RINT1 NM_021930.5(RINT1): c.1671_1671+2delTGT deletion Uncertain significance rs869312981 GRCh37 Chromosome 7, 105195674: 105195676
42 RINT1 NM_021930.5(RINT1): c.1671_1671+2delTGT deletion Uncertain significance rs869312981 GRCh38 Chromosome 7, 105555227: 105555229
43 SDHB NM_003000.2(SDHB): c.307A> G (p.Met103Val) single nucleotide variant Uncertain significance rs140178341 GRCh37 Chromosome 1, 17355211: 17355211
44 SDHB NM_003000.2(SDHB): c.307A> G (p.Met103Val) single nucleotide variant Uncertain significance rs140178341 GRCh38 Chromosome 1, 17028716: 17028716
45 SDHB NM_003000.2(SDHB): c.200+7A> G single nucleotide variant Conflicting interpretations of pathogenicity rs371329778 GRCh37 Chromosome 1, 17371249: 17371249
46 SDHB NM_003000.2(SDHB): c.200+7A> G single nucleotide variant Conflicting interpretations of pathogenicity rs371329778 GRCh38 Chromosome 1, 17044754: 17044754
47 PIK3CA NM_006218.3(PIK3CA): c.*29T> C single nucleotide variant Benign rs141178472 GRCh37 Chromosome 3, 178952181: 178952181
48 PIK3CA NM_006218.3(PIK3CA): c.*29T> C single nucleotide variant Benign rs141178472 GRCh38 Chromosome 3, 179234393: 179234393
49 PIK3CA NM_006218.3(PIK3CA): c.1747-9C> T single nucleotide variant Likely benign rs201779641 GRCh38 Chromosome 3, 179219562: 179219562
50 PIK3CA NM_006218.3(PIK3CA): c.1747-9C> T single nucleotide variant Likely benign rs201779641 GRCh37 Chromosome 3, 178937350: 178937350

Expression for Cowden Syndrome

Search GEO for disease gene expression data for Cowden Syndrome.

Pathways for Cowden Syndrome

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

(show all 36)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.83 AKT1 EGFR PIK3CA PTEN TNS1
2
Show member pathways
12.76 AKT1 BRCA2 EGFR PIK3CA PTEN SMAD4
3 12.71 AKT1 BRCA2 EGFR PIK3CA PTEN SMAD4
4
Show member pathways
12.61 AKT1 BRCA2 EGFR PIK3CA PTEN
5
Show member pathways
12.51 AKT1 BRCA2 EGFR PIK3CA PTEN SMAD4
6
Show member pathways
12.42 AKT1 EGFR PIK3CA PTEN
7 12.4 EGFR MIR19A MIR21 PIK3CA PTEN
8
Show member pathways
12.36 AKT1 BMPR1A EGFR PIK3CA
9 12.21 AKT1 EGFR MIR21 PIK3CA
10
Show member pathways
12.12 AKT1 EGFR PIK3CA PTEN
11 12.05 AKT1 EGFR PIK3CA PTEN
12
Show member pathways
12.05 AKT1 EGFR PIK3CA PTEN
13
Show member pathways
12.02 AKT1 EGFR PIK3CA PTEN
14 11.99 AKT1 BMPR1A PIK3CA SMAD4
15
Show member pathways
11.85 SDHB SDHC SDHD
16 11.85 AKT1 EGFR PIK3CA
17 11.83 AKT1 EGFR PIK3CA
18 11.83 AKT1 PIK3CA SMAD4
19 11.82 AKT1 PIK3CA PTEN SMAD4
20 11.79 AKT1 PIK3CA PTEN
21 11.78 AKT1 PIK3CA PTEN
22 11.66 AKT1 PIK3CA SEC23B
23 11.61 AKT1 PIK3CA PTEN
24 11.58 AKT1 EGFR PTEN SMAD4
25 11.5 AKT1 PIK3CA PTEN
26 11.49 AKT1 PIK3CA PTEN
27
Show member pathways
11.49 AKT1 EGFR PIK3CA SMAD4
28
Show member pathways
11.49 AKT1 EGFR PIK3CA PTEN SMAD4
29 11.45 AKT1 EGFR PIK3CA
30 11.29 AKT1 BMPR1A BRCA2 EGFR PTEN SMAD4
31 11.27 AKT1 EGFR PIK3CA PTEN
32 11.14 AKT1 EGFR PIK3CA
33
Show member pathways
11.13 AKT1 PIK3CA SMAD4
34 11.09 AKT1 EGFR SMAD4
35 11.06 AKT1 PIK3CA PTEN
36 10.71 AKT1 EGFR PIK3CA

GO Terms for Cowden Syndrome

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

(show all 19)
# Name GO ID Score Top Affiliating Genes
1 negative regulation of apoptotic process GO:0043066 9.98 AKT1 EGFR MIR19A MIR21 PTEN
2 intracellular signal transduction GO:0035556 9.88 AKT1 EGFR RASAL1 SMAD4 TNS1
3 positive regulation of transcription, DNA-templated GO:0045893 9.85 AKT1 BMPR1A BRCA2 EGFR SMAD4 USF2
4 cell proliferation GO:0008283 9.83 AKT1 BRCA2 EGFR PTEN SMAD4
5 transforming growth factor beta receptor signaling pathway GO:0007179 9.75 BMPR1A MIR21 SMAD4
6 BMP signaling pathway GO:0030509 9.72 BMPR1A MIR21 SMAD4
7 positive regulation of peptidyl-serine phosphorylation GO:0033138 9.71 AKT1 EGFR PIK3CA
8 negative regulation of ERK1 and ERK2 cascade GO:0070373 9.67 MIR21 PTEN SMAD4
9 epidermal growth factor receptor signaling pathway GO:0007173 9.58 AKT1 EGFR PIK3CA
10 negative regulation of macroautophagy GO:0016242 9.57 AKT1 PIK3CA
11 positive regulation of SMAD protein signal transduction GO:0060391 9.56 BMPR1A SMAD4
12 anoikis GO:0043276 9.52 AKT1 PIK3CA
13 negative regulation of cell size GO:0045792 9.51 AKT1 PTEN
14 mitochondrial electron transport, succinate to ubiquinone GO:0006121 9.46 SDHC SDHD
15 protein kinase B signaling GO:0043491 9.43 AKT1 PIK3CA PTEN
16 cellular response to decreased oxygen levels GO:0036294 9.32 AKT1 PTEN
17 response to UV-A GO:0070141 9.16 AKT1 EGFR
18 tricarboxylic acid cycle GO:0006099 9.13 SDHB SDHC SDHD
19 regulation of signal transduction involved in mitotic G2 DNA damage checkpoint GO:1902504 8.62 MIR21 RINT1

Molecular functions related to Cowden Syndrome 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 nitric-oxide synthase regulator activity GO:0030235 9.16 AKT1 EGFR
3 ubiquinone binding GO:0048039 8.96 SDHB SDHD
4 succinate dehydrogenase (ubiquinone) activity GO:0008177 8.8 SDHB SDHC SDHD

Sources for Cowden Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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