LDD
MCID: CWD006
MIFTS: 73

Cowden Syndrome 1 (LDD)

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

Aliases & Classifications for Cowden Syndrome 1

MalaCards integrated aliases for Cowden Syndrome 1:

Name: Cowden Syndrome 1 58 76 30 13 6
Bannayan-Riley-Ruvalcaba Syndrome 58 12 54 26 60 76 30 13 6 15 41
Pten Hamartoma Tumor Syndrome 58 12 25 54 76 38 30 13 6 15 74
Bannayan-Zonana Syndrome 58 12 77 54 26 76 56
Riley-Smith Syndrome 58 12 54 26 76
Ruvalcaba-Myhre-Smith Syndrome 58 12 26 76
Phts 58 25 54 76
Bzs 58 54 26 76
Lhermitte-Duclos Disease 60 76 74
Rmss 58 54 76
Brrs 54 26 60
Cs 58 76 3
Pten Hamartoma Tumor Syndrome with Granular Cell Tumor 58 30
Macrocephaly Multiple Lipomas and Hemangiomata 54 76
Dysplastic Gangliocytoma of the Cerebellum 60 76
Bannayan-Ruvalcaba-Riley Syndrome 26 76
Cerebelloparenchymal Disorder Vi 76 74
Multiple Hamartoma Syndrome 58 76
Myhre-Riley-Smith Syndrome 26 60
Cws1 58 76
Mham 58 76
Ldd 60 76
Cd 58 76
Macrocephaly, Pseudopapilledema, and Multiple Hemangiomata 58
Macrocephaly Pseudopapilledema and Multiple Hemangiomata 76
Macrocephaly Pseudopapilledema and Multiple Hemangiomas 54
Cerebellar Granule Cell Hypertrophy and Megalencephaly 76
Macrocephaly, Multiple Lipomas, and Hemangiomata 58
Bannayan-Riley-Ruvalcaba Syndrome; Bbrs 58
Ruvalcaba-Myhre-Smith Syndrome; Rmss 58
Pten Hamartoma Tumor Syndrome; Phts 58
Multiple Hamartoma Syndrome; Mham 58
Ruvalcaba -Myhre-Smith Syndrome 54
Bannayan-Zonana Syndrome; Bzs 58
Hamartoma Syndrome, Multiple 74
Lhermitte-Duclos Syndrome 58
Ruvalcaba-Myhre Syndrome 26
Proteus-Like Syndrome 60
Cohen-Hayden Syndrome 60
Cowden Disease 76
Cs; Cd 58
Bbrs 58
Cpd6 76

Characteristics:

Orphanet epidemiological data:

60
bannayan-riley-ruvalcaba syndrome
Inheritance: Autosomal dominant; Age of onset: Infancy,Neonatal;
proteus-like syndrome
Inheritance: Autosomal dominant; Age of onset: Infancy,Neonatal;
lhermitte-duclos disease
Prevalence: <1/1000000 (Worldwide); Age of onset: Adult;

OMIM:

58
Inheritance:
autosomal dominant

Miscellaneous:
symptoms usually occur in adults
skin lesions are fully penetrant by second decade
skeletal abnormalities are variable
allelic to bannayan-riley-ruvalcaba syndrome , which has an earlier age at onset
approximately 80% of cs patients have pten mutations


HPO:

33
cowden syndrome 1:
Onset and clinical course adult onset juvenile onset
Inheritance autosomal dominant inheritance


GeneReviews:

25
Penetrance More than 90% of individuals with cs have some clinical manifestation of the disorder by the late 20s [nelen et al 1996, eng 2000, zbuk & eng 2007]. by the third decade, 99% of affected individuals develop the mucocutaneous stigmata, primarily trichilemmomas and papillomatous papules, as well as acral and plantar keratoses. (see also clinical description for age at which specific manifestations are likely to become evident.)...

Classifications:



External Ids:

Disease Ontology 12 DOID:0050657 DOID:0080191
OMIM 58 158350
KEGG 38 H00539
MeSH 45 D006223
ICD10 via Orphanet 35 Q04.8 Q87.3 Q87.8
UMLS via Orphanet 75 C0265326 C0391826 C1266181 more
SNOMED-CT via HPO 70 103276001 111266001 112641009 more

Summaries for Cowden Syndrome 1

UniProtKB/Swiss-Prot : 76 Cowden syndrome 1: An autosomal dominant hamartomatous polyposis syndrome with age- related penetrance. Cowden syndrome is characterized by hamartomatous lesions affecting derivatives of ectodermal, mesodermal and endodermal layers, macrocephaly, facial trichilemmomas (benign tumors of the hair follicle infundibulum), acral keratoses, papillomatous papules, and elevated risk for development of several types of malignancy, particularly breast carcinoma in women and thyroid carcinoma in both men and women. Colon cancer and renal cell carcinoma have also been reported. Hamartomas can be found in virtually every organ, but most commonly in the skin, gastrointestinal tract, breast and thyroid. Lhermitte-Duclos disease: A rare disease characterized by the occurrence of a slowly enlarging mass within the cerebellar cortex corresponding histologically to a cerebellar hamartoma. It manifests, most commonly in the third and fourth decades of life, with increased intracranial pressure, headache, nausea, cerebellar dysfunction, occlusive hydrocephalus, ataxia, visual disturbances and other cranial nerve palsies. Various associated abnormalities may be present such as megalencephaly, microgyria, hydromyelia, polydactyly, partial gigantism, macroglossia. LDD is part of the PTEN hamartoma tumor syndromes spectrum that also includes Cowden syndrome.

MalaCards based summary : Cowden Syndrome 1, also known as bannayan-riley-ruvalcaba syndrome, is related to proteus syndrome and juvenile polyposis syndrome, and has symptoms including seizures, action tremor and cerebellar ataxia. An important gene associated with Cowden Syndrome 1 is PTEN (Phosphatase And Tensin Homolog), and among its related pathways/superpathways are ERK Signaling and Gene Expression. The drugs Sirolimus and Miconazole have been mentioned in the context of this disorder. Affiliated tissues include breast, thyroid and skin, and related phenotypes are macrocephaly and hydrocephalus

Disease Ontology : 12 A syndrome characterized as a spectrum of disorders (Cowden syndrome, Bannayan-Riley-Ruvalcaba syndrome, PTEN-related Proteus syndrome, and Proteus-like syndrome) caused by germline mutations of the PTEN gene.

Genetics Home Reference : 26 Bannayan-Riley-Ruvalcaba syndrome is a genetic condition characterized by a large head size (macrocephaly), multiple noncancerous tumors and tumor-like growths called hamartomas, and dark freckles on the penis in males. The signs and symptoms of Bannayan-Riley-Ruvalcaba syndrome are present from birth or become apparent in early childhood.

NIH Rare Diseases : 54 Bannayan-Riley-Ruvalcaba syndrome (BRRS) is one of the PTEN hamartoma tumor syndromes (PHTS). This is a group of disorders caused by mutations in a gene called PTEN. BRRS is present from birth includes large head size, benign polyps in the intestines, benign tumors below the skin called lipomas, and pigmented skin spots on the penis. Treatment is based on the symptoms present. Because of the increased risk of developing cancer in people with the PHTS, cancer surveillance is recommended.

OMIM : 58 Cowden syndrome-1 is a hamartomatous disorder characterized by macrocephaly, facial trichilemmomas, acral keratoses, papillomatous papules, and an increased risk for the development of breast, thyroid, and endometrial carcinoma. Bannayan-Riley-Ruvalcaba syndrome (BRRS), previously thought be distinct, shared clinical characteristics with Cowden syndrome, such as hamartomatous polyps of the gastrointestinal tract, mucocutaneous lesions, and increased risk of developing neoplasms, but had the additional features of developmental delay, macrocephaly, lipomas, hemangiomas, and pigmented speckled macules of the glans penis in males. Because features of BRRS and Cowden syndrome have been found in individuals within the same family with the same PTEN mutation, Cowden syndrome-1 and BRRS are considered to be the same disorder with variable expression and age-related penetrance (summary by Marsh et al., 1999, Lachlan et al., 2007, and Blumenthal and Dennis, 2008). Approximately 80% of patients reported with Cowden syndrome and 60% with BRSS have PTEN mutations (Blumenthal and Dennis, 2008). Some patients with Cowden syndrome may have immune system defects resulting in increased susceptibility to infections (summary by Browning et al., 2015). (158350)

Wikipedia : 77 Bannayan–Riley–Ruvalcaba syndrome (BRRS) is a rare overgrowth syndrome and hamartomatous disorder with... more...

GeneReviews: NBK1488

Related Diseases for Cowden Syndrome 1

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 1 via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 589)
# Related Disease Score Top Affiliating Genes
1 proteus syndrome 31.9 CDKN3 PTEN
2 juvenile polyposis syndrome 31.8 BMPR1A PTEN SMAD4 STK11
3 chromosome 10q23 deletion syndrome 31.3 BMPR1A PTEN
4 macrocephaly/autism syndrome 31.2 KLLN PTEN
5 megalencephaly 30.7 PTEN STK11 TSC1
6 benign ependymoma 30.4 TSC1 TSC2
7 congenital heart defects, hamartomas of tongue, and polysyndactyly 30.3 PTEN STK11 TSC1 TSC2
8 lung disease 29.6 EGFR TSC1 TSC2
9 autism spectrum disorder 29.1 PTEN TSC1 TSC2
10 adenocarcinoma 29.0 EGFR PTEN SMAD4 STK11
11 squamous cell carcinoma 29.0 EGFR PTEN SMAD4 STK11
12 endometrial cancer 28.8 BRCA1 BRCA2 CDKN3 EGFR PTEN
13 peutz-jeghers syndrome 28.5 BRCA2 PTEN SMAD4 STK11 TSC1 TSC2
14 pancreatic cancer 28.4 BRCA1 BRCA2 EGFR SMAD4 STK11
15 breast cancer 27.4 BMPR1A BRCA1 BRCA2 CDKN3 EGFR KLLN
16 proteus like syndrome mental retardation eye defect 12.4
17 cockayne syndrome 11.9
18 xeroderma pigmentosum, complementation group g 11.8
19 castleman disease 11.8
20 chanarin-dorfman syndrome 11.8
21 xeroderma pigmentosum, complementation group d 11.7
22 xeroderma pigmentosum, complementation group f 11.7
23 xeroderma pigmentosum, complementation group b 11.7
24 epilepsy occipital calcifications 11.6
25 megalencephaly-capillary malformation-polymicrogyria syndrome 11.6
26 primary pigmented nodular adrenocortical disease 11.5
27 acth-independent macronodular adrenal hyperplasia 11.5
28 conduct disorder 11.4
29 cowden syndrome 11.4
30 cardiogenic shock 11.4
31 gastric cancer 11.4
32 thyroxine-binding globulin quantitative trait locus 11.4
33 oppositional defiant disorder 11.4
34 conversion disorder 11.4
35 ruvalcaba syndrome 11.4
36 cockayne syndrome a 11.3
37 diabetes mellitus, noninsulin-dependent 11.3
38 mucopolysaccharidosis, type vii 11.3
39 mitochondrial metabolism disease 11.3
40 cerebrooculofacioskeletal syndrome 1 11.2
41 body mass index quantitative trait locus 11 11.2
42 anemia, sideroblastic, and spinocerebellar ataxia 11.2
43 carnitine palmitoyltransferase ii deficiency, infantile 11.2
44 cerebral creatine deficiency syndrome 2 11.2
45 endemic typhus 11.2
46 cerebral creatine deficiency syndrome 11.2
47 bartonellosis 11.2
48 critical illness polyneuropathy 11.2
49 leber hereditary optic neuropathy 11.2
50 pulmonary hypertension, primary, 1 11.1

Graphical network of the top 20 diseases related to Cowden Syndrome 1:



Diseases related to Cowden Syndrome 1

Symptoms & Phenotypes for Cowden Syndrome 1

Human phenotypes related to Cowden Syndrome 1:

60 33 (show top 50) (show all 163)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 macrocephaly 60 33 hallmark (90%) Very frequent (99-80%),Frequent (79-30%),Very frequent (99-80%) HP:0000256
2 hydrocephalus 60 33 hallmark (90%) Frequent (79-30%),Very frequent (99-80%) HP:0000238
3 seizures 60 33 occasional (7.5%) Occasional (29-5%),Very frequent (99-80%) HP:0001250
4 ataxia 60 33 hallmark (90%) Very frequent (99-80%) HP:0001251
5 nausea and vomiting 60 33 hallmark (90%) Very frequent (99-80%) HP:0002017
6 macroglossia 60 33 hallmark (90%) Very frequent (99-80%) HP:0000158
7 increased intracranial pressure 60 33 hallmark (90%) Very frequent (99-80%) HP:0002516
8 short stature 60 33 hallmark (90%) Very frequent (99-80%) HP:0004322
9 cranial nerve paralysis 60 33 hallmark (90%) Very frequent (99-80%) HP:0006824
10 arteriovenous malformation 60 33 hallmark (90%) Very frequent (99-80%) HP:0100026
11 nevus 60 33 hallmark (90%) Very frequent (99-80%) HP:0003764
12 visceral angiomatosis 60 33 hallmark (90%) Very frequent (99-80%) HP:0100761
13 irregular hyperpigmentation 60 33 hallmark (90%) Very frequent (99-80%),Very frequent (99-80%) HP:0007400
14 headache 60 33 hallmark (90%) Very frequent (99-80%) HP:0002315
15 hand polydactyly 60 33 hallmark (90%) Very frequent (99-80%) HP:0001161
16 papule 60 33 hallmark (90%) Very frequent (99-80%) HP:0200034
17 intestinal polyposis 60 33 hallmark (90%) Very frequent (99-80%) HP:0200008
18 polymicrogyria 60 33 hallmark (90%) Very frequent (99-80%) HP:0002126
19 hamartomatous polyposis 60 33 hallmark (90%) Very frequent (99-80%) HP:0004390
20 lipoma 60 33 hallmark (90%) Very frequent (99-80%) HP:0012032
21 neoplasm of the breast 60 33 hallmark (90%) Very frequent (99-80%) HP:0100013
22 abnormal large intestine morphology 60 33 hallmark (90%) Very frequent (99-80%) HP:0002250
23 enlarged cerebellum 60 33 hallmark (90%) Very frequent (99-80%) HP:0012081
24 plantar pits 33 hallmark (90%) HP:0010612
25 papilloma 33 hallmark (90%) HP:0012740
26 ganglioneuroma 33 hallmark (90%) HP:0003005
27 capillary hemangioma 33 hallmark (90%) HP:0005306
28 multiple trichilemmomata 33 hallmark (90%) HP:0012846
29 pectus excavatum 60 33 frequent (33%) Frequent (79-30%) HP:0000767
30 scoliosis 60 33 frequent (33%) Frequent (79-30%) HP:0002650
31 subcutaneous nodule 60 33 frequent (33%) Frequent (79-30%) HP:0001482
32 subcutaneous hemorrhage 60 33 frequent (33%) Frequent (79-30%) HP:0001933
33 ovarian neoplasm 60 33 frequent (33%) Frequent (79-30%) HP:0100615
34 neoplasm of the thyroid gland 60 33 frequent (33%) Frequent (79-30%) HP:0100031
35 acrokeratosis 60 33 frequent (33%) Frequent (79-30%) HP:0200016
36 thyroid carcinoma 60 33 occasional (7.5%) Occasional (29-5%) HP:0002890
37 hemangioma 60 33 frequent (33%) Very frequent (99-80%) HP:0001028
38 fibroadenoma of the breast 60 33 frequent (33%) Frequent (79-30%) HP:0010619
39 trichilemmoma 60 33 frequent (33%) Frequent (79-30%) HP:0012844
40 renal cell carcinoma 33 frequent (33%) HP:0005584
41 breast carcinoma 33 frequent (33%) HP:0003002
42 endometrial carcinoma 33 frequent (33%) HP:0012114
43 autistic behavior 33 frequent (33%) HP:0000729
44 freckling 33 frequent (33%) HP:0001480
45 hyperkeratotic papule 33 frequent (33%) HP:0045059
46 frontal bossing 60 33 occasional (7.5%) Occasional (29-5%) HP:0002007
47 intellectual disability 60 33 occasional (7.5%) Occasional (29-5%),Very frequent (99-80%) HP:0001249
48 muscular hypotonia 60 33 occasional (7.5%) Occasional (29-5%) HP:0001252
49 neurological speech impairment 60 33 occasional (7.5%) Occasional (29-5%) HP:0002167
50 narrow palate 60 33 occasional (7.5%) Occasional (29-5%) HP:0000189

Symptoms via clinical synopsis from OMIM:

58
Chest Ribs Sternum Clavicles And Scapulae:
pectus excavatum

Skeletal Spine:
scoliosis
kyphosis

Neurologic Central Nervous System:
intention tremor
seizure
lhermitte-duclos disease
mental retardation, mild to moderate (in 12%)
psychomotor delay, mild to moderate
more
Neoplasia:
meningioma
transitional cell carcinoma of the bladder
ovarian carcinoma
breast cancer
cervical carcinoma
more
Head And Neck Head:
progressive macrocephaly

Head And Neck Mouth:
high-arched palate
microstomia
scrotal tongue
oral papillomas

Skin Nails Hair Skin:
subcutaneous lipomas
multiple facial papules
acral keratoses
palmoplantar keratoses
multiple skin tags
more
Head And Neck Face:
'birdlike' facies (uncommon)
hypoplastic mandible (uncommon)
hypoplastic maxilla (uncommon)

Chest Breasts:
virginal hyperplasia
fibrocystic breast disease
gynecomastia in males
breast fibroadenomas

Genitourinary Internal Genitalia Female:
ovarian cysts
leiomyomas

Endocrine Features:
hypothyroidism
thyroiditis
hyperthyroidism
goiter
thyroid adenoma
more
Head And Neck Eyes:
cataract
myopia
angioid streaks

Abdomen Gastrointestinal:
colonic diverticula
hamartomatous polyps

Genitourinary External Genitalia Male:
varicocele
hydrocele

Head And Neck Ears:
hearing loss

Immunology:
recurrent infections (in some patients)
primary immunodeficiency (in some patients)
opportunistic infections (in some patients)
hypogammaglobulinemia (in some patients)
lymphopenia (in some patients)
more
Growth Weight:
obesity, increased risk of

Cardiovascular Vascular:
vascular anomalies (50% of patients)
intracranial developmental venous anomalies

Genitourinary External Genitalia Female:
vaginal cysts
vulvar cysts

Clinical features from OMIM:

158350

UMLS symptoms related to Cowden Syndrome 1:


seizures, action tremor, cerebellar ataxia

GenomeRNAi Phenotypes related to Cowden Syndrome 1 according to GeneCards Suite gene sharing:

27
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased focal adhesion (FA) area, decreased FA length, decreased FA mean intensity, increased number of small and round FAs, increased FA abundance GR00210-A 9.8 BMPR1A CDKN3 EGFR PTEN STK11
2 Increased cell death in breast cancer cell lines (MCF10A, MDA-MB-435) GR00104-A-0 9.5 BMPR1A CDKN3 PTEN
3 Increased cell viability after pRB stimulation GR00230-A-1 9.43 BMPR1A EGFR STK11
4 Decreased sensitivity to paclitaxel GR00112-A-0 9.37 PTEN SMAD4
5 Increased mitotic index GR00110-A-0 9.33 BMPR1A SMAD4 STK11
6 Upregulation of Wnt/beta-catenin pathway after WNT3A stimulation GR00016-A 9.02 BRCA1 BRCA2 SMAD4 TSC1 TSC2
7 Synthetic lethal with cisplatin GR00101-A-1 8.96 BRCA1 BRCA2

MGI Mouse Phenotypes related to Cowden Syndrome 1:

47 (show all 22)
# Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 10.24 BMPR1A BRCA1 BRCA2 EGFR PTEN SMAD4
2 embryo MP:0005380 10.23 BMPR1A BRCA1 BRCA2 EGFR PTEN SMAD4
3 endocrine/exocrine gland MP:0005379 10.22 BMPR1A BRCA1 BRCA2 EGFR PTEN SMAD4
4 behavior/neurological MP:0005386 10.21 BMPR1A BRCA1 BRCA2 PTEN SMAD4 STK11
5 growth/size/body region MP:0005378 10.21 BMPR1A BRCA1 BRCA2 EGFR PTEN SMAD4
6 cardiovascular system MP:0005385 10.2 BMPR1A BRCA1 EGFR PTEN SMAD4 STK11
7 homeostasis/metabolism MP:0005376 10.19 BMPR1A BRCA1 BRCA2 EGFR PTEN SMAD4
8 integument MP:0010771 10.18 BMPR1A BRCA1 BRCA2 EGFR PTEN SMAD4
9 hematopoietic system MP:0005397 10.15 BMPR1A BRCA1 BRCA2 EGFR PTEN SMAD4
10 mortality/aging MP:0010768 10.13 BMPR1A BRCA1 BRCA2 EGFR PTEN SMAD4
11 neoplasm MP:0002006 10.09 BMPR1A BRCA1 BRCA2 EGFR PTEN SMAD4
12 digestive/alimentary MP:0005381 10.06 BRCA1 BRCA2 EGFR PTEN SMAD4 STK11
13 nervous system MP:0003631 10.06 BMPR1A BRCA1 BRCA2 EGFR PTEN SMAD4
14 muscle MP:0005369 10 BMPR1A BRCA1 EGFR PTEN SMAD4 STK11
15 limbs/digits/tail MP:0005371 9.99 BMPR1A BRCA1 BRCA2 EGFR PTEN SMAD4
16 liver/biliary system MP:0005370 9.97 EGFR PTEN SMAD4 STK11 TSC1 TSC2
17 normal MP:0002873 9.97 BMPR1A BRCA1 BRCA2 EGFR PTEN SMAD4
18 reproductive system MP:0005389 9.81 BMPR1A BRCA1 BRCA2 EGFR PTEN SMAD4
19 renal/urinary system MP:0005367 9.8 BRCA1 EGFR PTEN SMAD4 STK11 TSC1
20 pigmentation MP:0001186 9.62 BMPR1A BRCA1 EGFR PTEN
21 respiratory system MP:0005388 9.43 BMPR1A BRCA1 EGFR PTEN STK11 TSC1
22 skeleton MP:0005390 9.17 BMPR1A BRCA1 BRCA2 EGFR PTEN SMAD4

Drugs & Therapeutics for Cowden Syndrome 1

Drugs for Cowden Syndrome 1 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

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

Genetic Tests for Cowden Syndrome 1

Genetic tests related to Cowden Syndrome 1:

# Genetic test Affiliating Genes
1 Pten Hamartoma Tumor Syndrome 30 PTEN
2 Cowden Syndrome 1 30 PTEN
3 Bannayan-Riley-Ruvalcaba Syndrome 30
4 Pten Hamartoma Tumor Syndrome with Granular Cell Tumor 30

Anatomical Context for Cowden Syndrome 1

MalaCards organs/tissues related to Cowden Syndrome 1:

42
Breast, Thyroid, Skin, Colon, B Cells, Cerebellum, Cortex

Publications for Cowden Syndrome 1

Articles related to Cowden Syndrome 1:

(show top 50) (show all 132)
# Title Authors Year
1
Looking for the hidden mutation: Bannayan-Riley-Ruvalcaba syndrome caused by constitutional and mosaic 10q23 microdeletions involving PTEN and BMPR1A. ( 31062505 )
2019
2
Effect of PTEN inactivating germline mutations on innate immune cell function and thyroid cancer-induced macrophages in patients with PTEN hamartoma tumor syndrome. ( 30670777 )
2019
3
Retinal astrocytoma in a young male with PTEN hamartoma tumor syndrome. ( 30447426 )
2018
4
Unexpected cancer-predisposition gene variants in Cowden syndrome and Bannayan-Riley-Ruvalcaba syndrome patients without underlying germline PTEN mutations. ( 29684080 )
2018
5
Hemimegalencephaly with Bannayan-Riley-Ruvalcaba syndrome. ( 29444762 )
2018
6
Lichen planus hypertrophicus-inversus occurring in a patient with Bannayan-Riley-Ruvalcaba syndrome. ( 29512180 )
2018
7
Broad spectrum of neuropsychiatric phenotypes associated with white matter disease in PTEN hamartoma tumor syndrome. ( 29152901 )
2018
8
The microbiome in PTEN hamartoma tumor syndrome. ( 29233840 )
2018
9
Thyroid disease in children and adolescents with PTEN hamartoma tumor syndrome (PHTS). ( 29273943 )
2018
10
Segmental storiform collagenomas: Expanding the spectrum of PTEN hamartoma tumor syndrome in children. ( 29806868 )
2018
11
Temporal Evolution and Management of Fast Flow Vascular Anomalies in PTEN Hamartoma Tumor Syndrome. ( 30154635 )
2018
12
Ultrasound-guided serratus anterior plane block for effective pain control after resection of large chest wall vascular malformation in a child with Phosphatase and Tensin (PTEN) hamartoma tumor syndrome. ( 30302884 )
2018
13
PTEN Hamartoma Tumor Syndrome and Immune Dysregulation. ( 30504085 )
2018
14
Say What? Bannayan-Riley-Ruvalcaba Syndrome Presenting with Gastrointestinal Bleeding Due to Hamartoma-Induced Intussusception. ( 28168574 )
2017
15
Bannayan-Riley-Ruvalcaba Syndrome in a Patient with a PTEN Mutation Identified by Chromosomal Microarray Analysis: A Case Report. ( 28401059 )
2017
16
Polyposis deserves a perfect physical examination for final diagnosis: Bannayan-Riley-Ruvalcaba syndrome. ( 29168369 )
2017
17
Germline TTN variants are enriched in PTEN-wildtype Bannayan-Riley-Ruvalcaba syndrome. ( 29263846 )
2017
18
Immune dysregulation in patients with PTEN hamartoma tumor syndrome: Analysis of FOXP3 regulatory T cells. ( 27477328 )
2017
19
Chiari I malformation in a child with PTEN hamartoma tumor syndrome: Association or coincidence? ( 28286253 )
2017
20
PTEN hamartoma of the soft tissue: the initial manifestation of an underlying PTEN hamartoma tumor syndrome in a 4-year-old female. ( 28756566 )
2017
21
Recommendations for reporting of secondary findings in clinical exome and genome sequencing, 2016 update (ACMG SF v2.0): a policy statement of the American College of Medical Genetics and Genomics. ( 27854360 )
2017
22
Chromosome 10q23 Deletion Syndrome: An Overlap of Bannayan-Riley-Ruvalcaba Syndrome and Juvenile Polyposis Syndrome. ( 27535890 )
2016
23
Genodermatosis Affecting the Skin and Mucosa of the Head and Neck: Clinicopathologic, Genetic, and Molecular Aspect--PTEN-Hamartoma Tumor Syndrome/Cowden Syndrome. ( 26975628 )
2016
24
A case of Bannayan-Riley-Ruvalcaba syndrome. A new clinical finding and brief review. ( 26228616 )
2016
25
Assessment of PTEN-associated vascular malformations in a patient with Bannayan-Riley-Ruvalcaba syndrome. ( 27358095 )
2016
26
Germline PTEN Mutation Analysis for PTEN Hamartoma Tumor Syndrome. ( 27033071 )
2016
27
Phosphatase and tensin homolog (PTEN) mutation can cause activated phosphatidylinositol 3-kinase δ syndrome-like immunodeficiency. ( 27426521 )
2016
28
Thyroid Pathology Findings in Cowden Syndrome: A Clue for the Diagnosis of the PTEN Hamartoma Tumor Syndrome. ( 26185318 )
2015
29
Bannayan-Riley-Ruvalcaba syndrome: an uncommon case of hematochezia in a 3-year-old boy. ( 23783019 )
2015
30
Torsion of a giant mesocolic lipoma in a child with Bannayan-Riley-Ruvalcaba syndrome. ( 25008800 )
2015
31
PTEN hamartoma tumor syndrome: clinical risk assessment and management protocol. ( 25461771 )
2015
32
PTEN hamartoma tumor syndrome. ( 26564076 )
2015
33
ACG Guidelines on Management of PTEN-Hamartoma Tumor Syndrome: Does the Evidence Support so Much so Young? ( 26673503 )
2015
34
ACMG policy statement: updated recommendations regarding analysis and reporting of secondary findings in clinical genome-scale sequencing. ( 25356965 )
2015
35
ACG clinical guideline: Genetic testing and management of hereditary gastrointestinal cancer syndromes. ( 25645574 )
2015
36
A practice guideline from the American College of Medical Genetics and Genomics and the National Society of Genetic Counselors: referral indications for cancer predisposition assessment. ( 25394175 )
2015
37
RE: Cowden syndrome and PTEN hamartoma tumor syndrome: systematic review and revised diagnostic criteria. ( 24899679 )
2014
38
Bannayan-Riley-Ruvalcaba syndrome: MRI neuroimaging features in a series of 7 patients. ( 23907246 )
2014
39
Cancer risk and genotype-phenotype correlations in PTEN hamartoma tumor syndrome. ( 23934601 )
2014
40
Sirolimus treatment of severe PTEN hamartoma tumor syndrome: case report and in vitro studies. ( 24366516 )
2014
41
Colonic manifestations of PTEN hamartoma tumor syndrome: case series and systematic review. ( 24587660 )
2014
42
American Society of Clinical Oncology Expert Statement: collection and use of a cancer family history for oncology providers. ( 24493721 )
2014
43
Genetic/familial high-risk assessment: breast and ovarian, version 1.2014. ( 25190698 )
2014
44
Cowden syndrome and the PTEN hamartoma tumor syndrome: how to define rare genetic syndromes. ( 24136892 )
2013
45
Cowden syndrome and the PTEN hamartoma tumor syndrome: systematic review and revised diagnostic criteria. ( 24136893 )
2013
46
Complex dural arteriovenous fistula in Bannayan-Riley-Ruvalcaba syndrome. ( 23662932 )
2013
47
Thyroid involvement in two patients with Bannayan-Riley-Ruvalcaba syndrome. ( 24379037 )
2013
48
Bannayan-Riley-Ruvalcaba syndrome with deforming lipomatous hamartomas in infant--case report. ( 24474112 )
2013
49
Spatially distinct roles of class Ia PI3K isoforms in the development and maintenance of PTEN hamartoma tumor syndrome. ( 23873941 )
2013
50
The gene dosage of class Ia PI3K dictates the development of PTEN hamartoma tumor syndrome. ( 24131925 )
2013

Variations for Cowden Syndrome 1

UniProtKB/Swiss-Prot genetic disease variations for Cowden Syndrome 1:

76 (show all 31)
# Symbol AA change Variation ID SNP ID
1 PTEN p.Ile67Arg VAR_007461
2 PTEN p.Tyr68His VAR_007462 rs398123317
3 PTEN p.His123Arg VAR_007463 rs121909222
4 PTEN p.Cys124Arg VAR_007464 rs121909223
5 PTEN p.Gly129Glu VAR_007465 rs121909218
6 PTEN p.Arg130Leu VAR_007467 rs121909229
7 PTEN p.Arg130Gln VAR_007468 rs121909229
8 PTEN p.Ser170Arg VAR_007470 rs121909221
9 PTEN p.Leu112Pro VAR_007807 rs121909230
10 PTEN p.Cys136Tyr VAR_007808 rs786204859
11 PTEN p.Met35Arg VAR_008036 rs121909225
12 PTEN p.Ala34Asp VAR_008734
13 PTEN p.Cys105Tyr VAR_008735 rs587782343
14 PTEN p.Ile135Val VAR_008736 rs587782360
15 PTEN p.Gly165Val VAR_008738 rs786204863
16 PTEN p.Gly165Glu VAR_008739
17 PTEN p.Pro246Leu VAR_008740 rs587782350
18 PTEN p.Lys289Glu VAR_008741 rs562015640
19 PTEN p.Val343Glu VAR_008742
20 PTEN p.Phe347Leu VAR_008743
21 PTEN p.Arg47Gly VAR_011587 rs786204855
22 PTEN p.Leu70Pro VAR_018102 rs121909226
23 PTEN p.Cys124Ser VAR_018104
24 PTEN p.Cys71Tyr VAR_026254
25 PTEN p.His93Tyr VAR_026255
26 PTEN p.Cys105Phe VAR_026256
27 PTEN p.Asp107Tyr VAR_026257
28 PTEN p.Tyr155Cys VAR_026263 rs106050012
29 PTEN p.Asp331Gly VAR_026275
30 PTEN p.Phe341Val VAR_026276
31 PTEN p.Lys342Asn VAR_026277 rs398123314

ClinVar genetic disease variations for Cowden Syndrome 1:

6 (show top 50) (show all 1308)
# Gene Variation Type Significance SNP ID Assembly Location
1 PTEN NM_000314.6(PTEN): c.696delA (p.Arg233Aspfs) deletion Pathogenic rs587776669 GRCh38 Chromosome 10, 87957914: 87957914
2 PTEN NM_000314.6(PTEN): c.586delC (p.His196Thrfs) deletion Pathogenic rs587776670 GRCh37 Chromosome 10, 89711968: 89711968
3 PTEN PTEN, DEL deletion Pathogenic
4 PTEN NM_000314.6(PTEN): c.492+2T> G single nucleotide variant Pathogenic rs1554898244 GRCh37 Chromosome 10, 89693010: 89693010
5 PTEN NM_000314.6(PTEN): c.-861G> T single nucleotide variant Pathogenic rs587776675 GRCh38 Chromosome 10, 87863608: 87863608
6 PTEN NM_000314.6(PTEN): c.696delA (p.Arg233Aspfs) deletion Pathogenic rs587776669 GRCh37 Chromosome 10, 89717671: 89717671
7 PTEN NM_000314.6(PTEN): c.-861G> T single nucleotide variant Pathogenic rs587776675 GRCh37 Chromosome 10, 89623365: 89623365
8 PTEN NM_000314.6(PTEN): c.492+2T> G single nucleotide variant Pathogenic rs1554898244 GRCh38 Chromosome 10, 87933253: 87933253
9 PTEN NM_000314.6(PTEN): c.386G> A (p.Gly129Glu) single nucleotide variant Pathogenic rs121909218 GRCh37 Chromosome 10, 89692902: 89692902
10 PTEN NM_000314.6(PTEN): c.386G> A (p.Gly129Glu) single nucleotide variant Pathogenic rs121909218 GRCh38 Chromosome 10, 87933145: 87933145
11 PTEN NM_000314.6(PTEN): c.697C> T (p.Arg233Ter) single nucleotide variant Pathogenic rs121909219 GRCh37 Chromosome 10, 89717672: 89717672
12 PTEN NM_000314.6(PTEN): c.697C> T (p.Arg233Ter) single nucleotide variant Pathogenic rs121909219 GRCh38 Chromosome 10, 87957915: 87957915
13 PTEN NM_000314.7(PTEN): c.469G> T (p.Glu157Ter) single nucleotide variant Pathogenic rs121909220 GRCh37 Chromosome 10, 89692985: 89692985
14 PTEN NM_000314.7(PTEN): c.469G> T (p.Glu157Ter) single nucleotide variant Pathogenic rs121909220 GRCh38 Chromosome 10, 87933228: 87933228
15 PTEN NM_000314.7(PTEN): c.510T> A (p.Ser170Arg) single nucleotide variant Likely pathogenic rs121909221 GRCh37 Chromosome 10, 89711892: 89711892
16 PTEN NM_000314.7(PTEN): c.510T> A (p.Ser170Arg) single nucleotide variant Likely pathogenic rs121909221 GRCh38 Chromosome 10, 87952135: 87952135
17 PTEN NM_000314.7(PTEN): c.368A> G (p.His123Arg) single nucleotide variant Likely pathogenic rs121909222 GRCh37 Chromosome 10, 89692884: 89692884
18 PTEN NM_000314.7(PTEN): c.368A> G (p.His123Arg) single nucleotide variant Likely pathogenic rs121909222 GRCh38 Chromosome 10, 87933127: 87933127
19 PTEN NM_000314.4(PTEN): c.370T> C (p.Cys124Arg) single nucleotide variant Pathogenic rs121909223 GRCh37 Chromosome 10, 89692886: 89692886
20 PTEN NM_000314.4(PTEN): c.370T> C (p.Cys124Arg) single nucleotide variant Pathogenic rs121909223 GRCh38 Chromosome 10, 87933129: 87933129
21 PTEN NM_000314.6(PTEN): c.347_351delACAAT (p.Asp116Alafs) deletion Pathogenic rs587776666 GRCh37 Chromosome 10, 89692863: 89692867
22 PTEN NM_000314.6(PTEN): c.347_351delACAAT (p.Asp116Alafs) deletion Pathogenic rs587776666 GRCh38 Chromosome 10, 87933106: 87933110
23 PTEN NM_000314.6(PTEN): c.388C> T (p.Arg130Ter) single nucleotide variant Pathogenic rs121909224 GRCh37 Chromosome 10, 89692904: 89692904
24 PTEN NM_000314.6(PTEN): c.388C> T (p.Arg130Ter) single nucleotide variant Pathogenic rs121909224 GRCh38 Chromosome 10, 87933147: 87933147
25 PTEN NM_000314.6(PTEN): c.253+1G> A single nucleotide variant Pathogenic/Likely pathogenic rs587776667 GRCh37 Chromosome 10, 89690847: 89690847
26 PTEN NM_000314.6(PTEN): c.253+1G> A single nucleotide variant Pathogenic/Likely pathogenic rs587776667 GRCh38 Chromosome 10, 87931090: 87931090
27 PTEN NM_000314.6(PTEN): c.586delC (p.His196Thrfs) deletion Pathogenic rs587776670 GRCh38 Chromosome 10, 87952211: 87952211
28 PTEN NM_000314.7(PTEN): c.534_535delTAinsAT (p.Tyr178Ter) indel Pathogenic rs397515374 GRCh37 Chromosome 10, 89711916: 89711917
29 PTEN NM_000314.7(PTEN): c.534_535delTAinsAT (p.Tyr178Ter) indel Pathogenic rs397515374 GRCh38 Chromosome 10, 87952159: 87952160
30 PTEN NM_000314.6(PTEN): c.104T> G (p.Met35Arg) single nucleotide variant Pathogenic rs121909225 GRCh37 Chromosome 10, 89653806: 89653806
31 PTEN NM_000314.6(PTEN): c.104T> G (p.Met35Arg) single nucleotide variant Pathogenic rs121909225 GRCh38 Chromosome 10, 87894049: 87894049
32 PTEN NM_000314.7(PTEN): c.209T> C (p.Leu70Pro) single nucleotide variant Likely pathogenic rs121909226 GRCh37 Chromosome 10, 89685314: 89685314
33 PTEN NM_000314.7(PTEN): c.209T> C (p.Leu70Pro) single nucleotide variant Likely pathogenic rs121909226 GRCh38 Chromosome 10, 87925557: 87925557
34 PTEN NM_000314.4(PTEN): c.640C> T (p.Gln214Ter) single nucleotide variant Pathogenic rs121909227 GRCh37 Chromosome 10, 89717615: 89717615
35 PTEN NM_000314.4(PTEN): c.640C> T (p.Gln214Ter) single nucleotide variant Pathogenic rs121909227 GRCh38 Chromosome 10, 87957858: 87957858
36 PTEN NM_000314.7(PTEN): c.766G> T (p.Glu256Ter) single nucleotide variant Pathogenic rs121909228 GRCh37 Chromosome 10, 89717741: 89717741
37 PTEN NM_000314.7(PTEN): c.766G> T (p.Glu256Ter) single nucleotide variant Pathogenic rs121909228 GRCh38 Chromosome 10, 87957984: 87957984
38 PTEN PTEN, 1-BP DEL, 179G deletion Pathogenic
39 PTEN NM_000314.4(PTEN): c.335T> C (p.Leu112Pro) single nucleotide variant Pathogenic rs121909230 GRCh38 Chromosome 10, 87933094: 87933094
40 PTEN NM_000314.6(PTEN): c.802delG (p.Asp268Thrfs) deletion Likely pathogenic rs587776672 GRCh37 Chromosome 10, 89720651: 89720651
41 PTEN NM_000314.4(PTEN): c.389G> A (p.Arg130Gln) single nucleotide variant Pathogenic rs121909229 GRCh37 Chromosome 10, 89692905: 89692905
42 PTEN NM_000314.4(PTEN): c.389G> A (p.Arg130Gln) single nucleotide variant Pathogenic rs121909229 GRCh38 Chromosome 10, 87933148: 87933148
43 PTEN NM_000314.6(PTEN): c.761_765delAAGTA (p.Lys254Argfs) deletion Likely pathogenic rs606231169 GRCh38 Chromosome 10, 87957979: 87957983
44 PTEN NM_000314.6(PTEN): c.761_765delAAGTA (p.Lys254Argfs) deletion Likely pathogenic rs606231169 GRCh37 Chromosome 10, 89717736: 89717740
45 PTEN NM_000314.6(PTEN): c.564T> A (p.Tyr188Ter) single nucleotide variant Likely pathogenic rs606231170 GRCh38 Chromosome 10, 87952189: 87952189
46 PTEN NM_000314.6(PTEN): c.564T> A (p.Tyr188Ter) single nucleotide variant Likely pathogenic rs606231170 GRCh37 Chromosome 10, 89711946: 89711946
47 PTEN NM_000314.4(PTEN): c.335T> C (p.Leu112Pro) single nucleotide variant Pathogenic rs121909230 GRCh37 Chromosome 10, 89692851: 89692851
48 PTEN NM_000314.6(PTEN): c.1003C> T (p.Arg335Ter) single nucleotide variant Pathogenic rs121909231 GRCh37 Chromosome 10, 89720852: 89720852
49 PTEN NM_000314.6(PTEN): c.1003C> T (p.Arg335Ter) single nucleotide variant Pathogenic rs121909231 GRCh38 Chromosome 10, 87961095: 87961095
50 PTEN NM_000314.7(PTEN): c.40dup (p.Arg14Lysfs) duplication Pathogenic rs587776671 GRCh38 Chromosome 10, 87864509: 87864509

Cosmic variations for Cowden Syndrome 1:

9 (show all 15)
# Cosmic Mut ID Gene Symbol COSMIC Disease Classification
(Primary site, Site subtype, Primary histology, Histology subtype)
Mutation CDS Mutation AA GRCh38 Location Conf
1 COSM6949578 TP63 skin,penis,carcinoma,NS c.1922C>T p.A641V 3:189894381-189894381 0
2 COSM10648 TP53 skin,penis,carcinoma,NS c.524G>A p.R175H 17:7675088-7675088 0
3 COSM748 PIK3CA skin,penis,carcinoma,NS c.317G>T p.G106V 3:179199142-179199142 0
4 COSM35624 MYCN skin,penis,carcinoma,NS c.131C>T p.P44L 2:15942195-15942195 0
5 COSM6949581 DOT1L skin,penis,carcinoma,NS c.4292C>T p.A1431V 19:2226813-2226813 0
6 COSM33765 AKT1 skin,NS,Overgrowth syndrome,Proteus syndrome c.49G>A p.E17K 14:104780214-104780214 0
7 COSM6949580 skin,penis,carcinoma,NS c.4292C>T p.A1431V 19:2226813-2226813 0
8 COSM1640851 skin,penis,carcinoma,NS c.524G>A p.R175H 17:7675088-7675088 0
9 COSM99914 skin,penis,carcinoma,NS c.524G>A p.R175H 17:7675088-7675088 0
10 COSM3355994 skin,penis,carcinoma,NS c.524G>A p.R175H 17:7675088-7675088 0
11 COSM99024 skin,penis,carcinoma,NS c.245G>A p.R82H 17:7675088-7675088 0
12 COSM99023 skin,penis,carcinoma,NS c.128G>A p.R43H 17:7675088-7675088 0
13 COSM729830 skin,penis,carcinoma,NS c.317G>T p.G106V 3:179199142-179199142 0
14 COSM6949579 skin,penis,carcinoma,NS c.1640C>T p.A547V 3:189894381-189894381 0
15 COSM99022 skin,penis,carcinoma,NS c.524G>A p.R175H 17:7675088-7675088 0

Copy number variations for Cowden Syndrome 1 from CNVD:

7
# CNVD ID Chromosom Start End Type Gene Symbol CNVD Disease
1 47170 10 89675267 89701622 Deletion PTEN Bannayan-Riley-Ruvalcaba syndrome

Expression for Cowden Syndrome 1

Search GEO for disease gene expression data for Cowden Syndrome 1.

Pathways for Cowden Syndrome 1

Pathways related to Cowden Syndrome 1 according to GeneCards Suite gene sharing:

(show all 32)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.62 BMPR1A BRCA1 EGFR PTEN SMAD4 STK11
2
Show member pathways
13.58 BRCA1 EGFR PTEN SMAD4 STK11 TSC1
3
Show member pathways
12.78 EGFR PTEN SMAD4 TSC1 TSC2
4
Show member pathways
12.78 BRCA1 PTEN STK11 TSC1 TSC2
5
Show member pathways
12.72 EGFR PTEN TSC1 TSC2
6
Show member pathways
12.72 BRCA1 EGFR PTEN STK11 TSC1 TSC2
7 12.66 BRCA2 EGFR PTEN SMAD4
8
Show member pathways
12.65 BRCA2 EGFR PTEN SMAD4 TSC2
9
Show member pathways
12.54 BRCA1 BRCA2 EGFR PTEN SMAD4
10
Show member pathways
12.23 BRCA1 BRCA2 EGFR PTEN TSC1 TSC2
11
Show member pathways
12.18 EGFR PTEN STK11 TSC1 TSC2
12
Show member pathways
12.04 STK11 TSC1 TSC2
13
Show member pathways
12.02 EGFR PTEN TSC1 TSC2
14 12 PTEN TSC1 TSC2
15
Show member pathways
11.97 STK11 TSC1 TSC2
16 11.95 EGFR PTEN TSC1 TSC2
17
Show member pathways
11.94 EGFR PTEN TSC2
18
Show member pathways
11.9 EGFR PTEN SMAD4 STK11
19 11.89 EGFR PTEN TSC2
20 11.84 PTEN STK11 TSC1 TSC2
21 11.72 PTEN TSC1 TSC2
22 11.71 EGFR PTEN TSC1 TSC2
23 11.67 PTEN TSC1 TSC2
24 11.52 BRCA1 EGFR PTEN SMAD4
25 11.49 BRCA1 SMAD4 TSC2
26 11.46 BMPR1A BRCA1 BRCA2 EGFR PTEN SMAD4
27 11.19 TSC1 TSC2
28 11.12 EGFR SMAD4
29 11.12 PTEN TSC2
30 10.97 BMPR1A SMAD4
31 10.97 PTEN SMAD4
32 10.88 SMAD4 STK11 TSC1 TSC2

GO Terms for Cowden Syndrome 1

Cellular components related to Cowden Syndrome 1 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 lateral element GO:0000800 8.96 BRCA1 BRCA2
2 TSC1-TSC2 complex GO:0033596 8.62 TSC1 TSC2

Biological processes related to Cowden Syndrome 1 according to GeneCards Suite gene sharing:

(show all 26)
# Name GO ID Score Top Affiliating Genes
1 cell proliferation GO:0008283 9.8 BRCA2 EGFR PTEN SMAD4
2 protein dephosphorylation GO:0006470 9.77 CDKN3 PTEN STK11
3 regulation of cell proliferation GO:0042127 9.74 BRCA1 EGFR SMAD4
4 regulation of cell cycle GO:0051726 9.72 PTEN TSC1 TSC2
5 cell cycle arrest GO:0007050 9.71 CDKN3 KLLN STK11
6 cell cycle GO:0007049 9.65 BRCA1 BRCA2 CDKN3 KLLN STK11
7 negative regulation of TOR signaling GO:0032007 9.63 TSC1 TSC2
8 negative regulation of insulin receptor signaling pathway GO:0046627 9.62 TSC1 TSC2
9 positive regulation of macroautophagy GO:0016239 9.62 TSC1 TSC2
10 positive regulation of DNA repair GO:0045739 9.61 BRCA1 EGFR
11 endoderm development GO:0007492 9.61 BMPR1A SMAD4
12 developmental growth GO:0048589 9.59 BMPR1A SMAD4
13 positive regulation of transforming growth factor beta receptor signaling pathway GO:0030511 9.58 SMAD4 STK11
14 outflow tract septum morphogenesis GO:0003148 9.58 BMPR1A SMAD4
15 female gonad development GO:0008585 9.56 BRCA2 SMAD4
16 positive regulation of transcription, DNA-templated GO:0045893 9.55 BMPR1A BRCA1 BRCA2 EGFR SMAD4
17 positive regulation of histone H3-K4 methylation GO:0051571 9.52 BRCA1 SMAD4
18 negative regulation of phosphatidylinositol 3-kinase signaling GO:0014067 9.51 PTEN TSC2
19 DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator GO:0006978 9.48 BRCA1 BRCA2
20 positive regulation of SMAD protein signal transduction GO:0060391 9.46 BMPR1A SMAD4
21 response to estradiol GO:0032355 9.43 EGFR PTEN
22 anoikis GO:0043276 9.4 STK11 TSC2
23 negative regulation of cell size GO:0045792 9.37 PTEN TSC1
24 positive regulation of histone H3-K9 acetylation GO:2000617 9.32 BRCA1 SMAD4
25 negative regulation of cell proliferation GO:0008285 9.1 CDKN3 PTEN SMAD4 STK11 TSC1 TSC2
26 chordate embryonic development GO:0043009 8.96 BRCA1 BRCA2

Molecular functions related to Cowden Syndrome 1 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 identical protein binding GO:0042802 9.02 BRCA1 BRCA2 EGFR PTEN SMAD4

Sources for Cowden Syndrome 1

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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