CWS1
MCID: CWD006
MIFTS: 71

Cowden Syndrome 1 (CWS1)

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 57 75 29 13 6
Bannayan-Riley-Ruvalcaba Syndrome 57 12 53 25 59 75 29 13 6 15 40
Pten Hamartoma Tumor Syndrome 57 12 24 53 75 37 29 6 15 73
Bannayan-Zonana Syndrome 57 12 53 25 75 55
Riley-Smith Syndrome 57 12 53 25 75
Ruvalcaba-Myhre-Smith Syndrome 57 12 25 75
Phts 57 24 53 75
Bzs 57 53 25 75
Lhermitte-Duclos Disease 59 75 73
Rmss 57 53 75
Brrs 53 25 59
Cs 57 75 3
Pten Hamartoma Tumor Syndrome with Granular Cell Tumor 57 29
Macrocephaly Multiple Lipomas and Hemangiomata 53 75
Dysplastic Gangliocytoma of the Cerebellum 59 75
Bannayan-Ruvalcaba-Riley Syndrome 25 75
Cerebelloparenchymal Disorder Vi 75 73
Multiple Hamartoma Syndrome 57 75
Myhre-Riley-Smith Syndrome 25 59
Cws1 57 75
Mham 57 75
Ldd 59 75
Cd 57 75
Macrocephaly, Pseudopapilledema, and Multiple Hemangiomata 57
Macrocephaly Pseudopapilledema and Multiple Hemangiomata 75
Macrocephaly Pseudopapilledema and Multiple Hemangiomas 53
Cerebellar Granule Cell Hypertrophy and Megalencephaly 75
Macrocephaly, Multiple Lipomas, and Hemangiomata 57
Bannayan-Riley-Ruvalcaba Syndrome; Bbrs 57
Ruvalcaba-Myhre-Smith Syndrome; Rmss 57
Pten Hamartoma Tumor Syndrome; Phts 57
Multiple Hamartoma Syndrome; Mham 57
Ruvalcaba -Myhre-Smith Syndrome 53
Bannayan-Zonana Syndrome; Bzs 57
Hamartoma Syndrome, Multiple 73
Lhermitte-Duclos Syndrome 57
Ruvalcaba-Myhre Syndrome 25
Bannayanzonana Syndrome 76
Proteus-Like Syndrome 59
Cohen-Hayden Syndrome 59
Cowden Disease 75
Cs; Cd 57
Bbrs 57
Cpd6 75

Characteristics:

Orphanet epidemiological data:

59
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:

57
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:

32
cowden syndrome 1:
Onset and clinical course adult onset juvenile onset
Inheritance autosomal dominant inheritance


GeneReviews:

24
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 &amp; 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:

OMIM 57 158350
Disease Ontology 12 DOID:0050657 DOID:0080191
ICD10 via Orphanet 34 Q87.8 Q87.3 Q04.8
UMLS via Orphanet 74 C0265326 C1866398 C1266181 more
MeSH 44 D006223
KEGG 37 H00539
SNOMED-CT via HPO 69 263681008 26614003 386152007 more

Summaries for Cowden Syndrome 1

UniProtKB/Swiss-Prot : 75 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 juvenile polyposis syndrome and proteus 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 PAK Pathway and Regulation of lipid metabolism Insulin signaling-generic cascades. The drugs Abstral and Adcetris have been mentioned in the context of this disorder. Affiliated tissues include breast, thyroid and skin, and related phenotypes are macrocephaly and pectus excavatum

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 : 25 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 : 53 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 : 57 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 : 76 Bannayan�??Riley�??Ruvalcaba syndrome (BRRS) is a rare overgrowth syndrome and hamartomatous disorder... more...

GeneReviews: NBK1488

Related Diseases for Cowden Syndrome 1

Diseases in the Cowden Disease 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 447)
# Related Disease Score Top Affiliating Genes
1 juvenile polyposis syndrome 32.1 PTEN MUTYH BMPR1A
2 proteus syndrome 31.7 PTEN CDKN3 AKT1
3 cowden disease 31.2 TSC2 TNS1 PTEN KLLN CDKN3 BMPR1A
4 chromosome 10q23 deletion syndrome 31.0 PTEN BMPR1A
5 congenital heart defects, hamartomas of tongue, and polysyndactyly 30.1 TSC2 PTEN
6 small cell cancer of the lung 29.6 PTEN EGFR AKT1
7 gastrointestinal stromal tumor 29.6 PTEN EGFR AKT1
8 glioblastoma multiforme 29.4 PTEN EGFR AKT1
9 thyroid cancer 29.1 SLC26A4 PTEN EGFR AKT1
10 proteus-like syndrome 12.8
11 proteus like syndrome mental retardation eye defect 12.3
12 cockayne syndrome 11.9
13 castleman disease 11.7
14 chanarin-dorfman syndrome 11.7
15 crouzon syndrome 11.6
16 xeroderma pigmentosum, complementation group d 11.6
17 xeroderma pigmentosum, complementation group f 11.6
18 xeroderma pigmentosum, complementation group g 11.6
19 xeroderma pigmentosum, complementation group b 11.6
20 epilepsy occipital calcifications 11.6
21 megalencephaly-capillary malformation-polymicrogyria syndrome 11.5
22 primary pigmented nodular adrenocortical disease 11.5
23 acth-independent macronodular adrenal hyperplasia 11.4
24 conduct disorder 11.3
25 ruvalcaba syndrome 11.3
26 gastric cancer 11.3
27 oppositional defiant disorder 11.3
28 conversion disorder 11.3
29 cockayne syndrome a 11.3
30 diabetes mellitus, noninsulin-dependent 11.2
31 mitochondrial metabolism disease 11.2
32 mucopolysaccharidosis, type vii 11.2
33 body mass index quantitative trait locus 11 11.2
34 anemia, sideroblastic, and spinocerebellar ataxia 11.2
35 carnitine palmitoyltransferase ii deficiency, infantile 11.2
36 cerebral creatine deficiency syndrome 2 11.2
37 cerebral creatine deficiency syndrome 11.2
38 bartonellosis 11.2
39 cat-scratch disease 11.2
40 critical illness polyneuropathy 11.2
41 leber hereditary optic neuropathy 11.2
42 cerebrooculofacioskeletal syndrome 1 11.1
43 crisponi/cold-induced sweating syndrome 1 11.1
44 pulmonary hypertension, primary, 1 11.1
45 intervertebral disc disease 11.1
46 refractory celiac disease 11.1
47 thyroxine-binding globulin quantitative trait locus 11.0
48 neutral lipid storage disease with myopathy 11.0
49 inflammatory bowel disease 29 11.0
50 pfeiffer syndrome 11.0

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



Diseases related to Cowden Syndrome 1

Symptoms & Phenotypes for Cowden Syndrome 1

Symptoms via clinical synopsis from OMIM:

57
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

Human phenotypes related to Cowden Syndrome 1:

59 32 (show top 50) (show all 164)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 macrocephaly 59 32 hallmark (90%) Very frequent (99-80%),Frequent (79-30%),Very frequent (99-80%) HP:0000256
2 pectus excavatum 59 32 frequent (33%) Frequent (79-30%) HP:0000767
3 frontal bossing 59 32 occasional (7.5%) Occasional (29-5%) HP:0002007
4 hydrocephalus 59 32 hallmark (90%) Frequent (79-30%),Very frequent (99-80%) HP:0000238
5 intellectual disability 59 32 occasional (7.5%) Occasional (29-5%),Very frequent (99-80%) HP:0001249
6 seizures 59 32 occasional (7.5%) Occasional (29-5%),Very frequent (99-80%) HP:0001250
7 ataxia 59 32 hallmark (90%) Very frequent (99-80%) HP:0001251
8 muscular hypotonia 59 32 occasional (7.5%) Occasional (29-5%) HP:0001252
9 nausea and vomiting 59 32 hallmark (90%) Very frequent (99-80%) HP:0002017
10 neurological speech impairment 59 32 occasional (7.5%) Occasional (29-5%) HP:0002167
11 scoliosis 59 32 frequent (33%) Frequent (79-30%) HP:0002650
12 macroglossia 59 32 hallmark (90%) Very frequent (99-80%) HP:0000158
13 narrow palate 59 32 occasional (7.5%) Occasional (29-5%) HP:0000189
14 macrotia 59 32 occasional (7.5%) Occasional (29-5%) HP:0000400
15 cataract 59 32 Frequent (79-30%) HP:0000518
16 increased intracranial pressure 59 32 hallmark (90%) Very frequent (99-80%) HP:0002516
17 delayed skeletal maturation 59 32 occasional (7.5%) Occasional (29-5%) HP:0002750
18 short nose 59 32 occasional (7.5%) Occasional (29-5%) HP:0003196
19 anteverted nares 59 32 occasional (7.5%) Occasional (29-5%),Occasional (29-5%) HP:0000463
20 short stature 59 32 hallmark (90%) Very frequent (99-80%) HP:0004322
21 broad thumb 59 32 occasional (7.5%) Occasional (29-5%) HP:0011304
22 myopathy 59 32 occasional (7.5%) Occasional (29-5%) HP:0003198
23 cranial nerve paralysis 59 32 hallmark (90%) Very frequent (99-80%) HP:0006824
24 subcutaneous nodule 59 32 frequent (33%) Frequent (79-30%) HP:0001482
25 abdominal wall muscle weakness 59 32 occasional (7.5%) Occasional (29-5%) HP:0009023
26 hypoglycemia 59 32 occasional (7.5%) Occasional (29-5%) HP:0001943
27 skeletal muscle atrophy 59 32 occasional (7.5%) Occasional (29-5%) HP:0003202
28 long philtrum 59 32 occasional (7.5%) Occasional (29-5%) HP:0000343
29 micrognathia 59 32 occasional (7.5%) Occasional (29-5%) HP:0000347
30 angina pectoris 59 32 occasional (7.5%) Occasional (29-5%) HP:0001681
31 joint hyperflexibility 59 32 occasional (7.5%) Occasional (29-5%) HP:0005692
32 dolichocephaly 59 32 occasional (7.5%) Occasional (29-5%),Occasional (29-5%) HP:0000268
33 lymphedema 59 32 occasional (7.5%) Occasional (29-5%) HP:0001004
34 arteriovenous malformation 59 32 hallmark (90%) Very frequent (99-80%) HP:0100026
35 hashimoto thyroiditis 59 32 occasional (7.5%) Occasional (29-5%) HP:0000872
36 myopia 59 32 Very frequent (99-80%) HP:0000545
37 nevus 59 32 hallmark (90%) Very frequent (99-80%) HP:0003764
38 cachexia 59 32 occasional (7.5%) Occasional (29-5%) HP:0004326
39 visceral angiomatosis 59 32 hallmark (90%) Very frequent (99-80%) HP:0100761
40 downslanted palpebral fissures 59 32 Occasional (29-5%) HP:0000494
41 multiple cafe-au-lait spots 59 32 occasional (7.5%) Occasional (29-5%) HP:0007565
42 irregular hyperpigmentation 59 32 hallmark (90%) Very frequent (99-80%),Very frequent (99-80%) HP:0007400
43 hand polydactyly 59 32 hallmark (90%) Very frequent (99-80%) HP:0001161
44 subcutaneous lipoma 59 32 Very frequent (99-80%) HP:0001031
45 intracranial hemorrhage 59 32 occasional (7.5%) Occasional (29-5%) HP:0002170
46 lymphoma 59 32 occasional (7.5%) Occasional (29-5%) HP:0002665
47 subcutaneous hemorrhage 59 32 frequent (33%) Frequent (79-30%) HP:0001933
48 ovarian neoplasm 59 32 frequent (33%) Frequent (79-30%) HP:0100615
49 neoplasm of the adrenal cortex 59 32 occasional (7.5%) Occasional (29-5%) HP:0100641
50 headache 59 32 hallmark (90%) Very frequent (99-80%) HP:0002315

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:

26
# 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 9.46 BMPR1A CDKN3 EGFR PTEN
2 Increased cell death in breast cancer cell lines (MCF10A, MDA-MB-435) GR00104-A-0 9.13 BMPR1A CDKN3 PTEN
3 Increased cell viability after pRB stimulation GR00230-A-1 8.8 AKT1 BMPR1A EGFR

MGI Mouse Phenotypes related to Cowden Syndrome 1:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 9.97 AKT1 BMPR1A EGFR MUTYH PTEN TCF4
2 endocrine/exocrine gland MP:0005379 9.87 AKT1 BMPR1A EGFR PTEN SLC26A4 TCF4
3 nervous system MP:0003631 9.76 AKT1 BMPR1A EGFR MUTYH PTEN SLC26A4
4 neoplasm MP:0002006 9.73 AKT1 BMPR1A EGFR MUTYH PTEN TSC2
5 pigmentation MP:0001186 9.35 BMPR1A EGFR PTEN SLC26A4 TCF4
6 reproductive system MP:0005389 9.17 AKT1 BMPR1A EGFR PTEN SLC26A4 TNS1

Drugs & Therapeutics for Cowden Syndrome 1

FDA approved drugs:

(show top 50) (show all 105)
# Drug Name Active Ingredient(s) 18 Company Approval Date
1
Abstral 18 FENTANYL (citrate) ProStrakan January 2011
2
Adcetris 18 49 BRENTUXIMAB VEDOTIN Seattle Genetics August 2011
3
Aloxi 18 49 PALONOSETRON (hydrochloride) MGI Pharma, Helsinn Healthcare August 2003
4
Anexsia 18 ACETAMINOPHEN; HYDROCODONE BITARTRATE Mallinckrodt Group August 1996
5
Aredia 18 49 PAMIDRONATE DISODIUM Chiron August 1996
6
Bosulif 18 49 BOSUTINIB MONOHYDRATE Pfizer September 2012
7
Bromfenac 18 BROMFENAC SODIUM Duract, Wyeth-Ayerst Laboratories July 1997
8
CEA-Scan 18 Immunomedics April 1996
9
Clolar 18 49 CLOFARABINE Genzyme December, 2004
10
Degarelix 18 49 degarelix Ferring Pharmaceuticals December of 2008
11
Elitek 18 49 RASBURICASE sanofi-aventis October 2009
12
Feridex I.V. 18 FERUMOXIDES Advanced Magnetics February 1996
13
Folotyn 18 49 PRALATREXATE Allos Therapeutics September 2009
14
Gardasil 18 49 quadrivalent human papillomavirus (types 6, 11, 16, 18) recombinant vaccine Merck June 2006
15
GastroMARK 18 FERUMOXSIL Advanced Magnetics May 1996
16
Halaven 18 49 ERIBULIN MESYLATE Eisai November 2010
17
Imbruvica 18 49 IBRUTINIB Pharmacyclics November of 2013/February 2014
18
Intron A 18 49 INTERFERON ALFA-2B Schering-Plough December 1997/ December 1995/ March 1997
19
Iressa 18 49 GEFITINIB AstraZeneca May 2003
20
Istodax 18 49 ROMIDEPSIN Gloucester Pharmaceuticals November 2009
21
Ixempra 18 49 IXABEPILONE Bristol-Myers Squibb October 2007
22
Kadian 18 MORPHINE SULFATE Purepac Pharmaceutical July 1996
23
Marqibo 18 49 VINCRISTINE SULFATE Talon Therapeutics August 2012
24
Mozobil 18 49 PLERIXAFOR Genzyme December 2008
25
Neumega 18 OPRELVEKIN Genetics Institute November 1997
26
Nexavar 18 49 SORAFENIB TOSYLATE Bayer/Onyx December 2005
27
Onsolis 18 FENTANYL CITRATE BioDelivery Sciences July 2009
28
Perjeta 18 49 PERTUZUMAB Genentech June 2012
29
Photofrin 18 PORFIMER SODIUM QLT January 1998
30
Sancuso 18 GRANISETRON ProStrakan September 2008
31
Sprycel 18 49 DASATINIB Bristol-Myers Squibb June 2006
32
Subsys 18 FENTANYL Insys Therapeutics January of 2012
33
Sutent 18 49 SUNITINIB MALATE Pfizer May 2011/ January 2006
34
Synercid I.V. 18 DALFOPRISTIN; QUINUPRISTIN QUINUPRISTIN; DALFOPRISTIN Rhone Poulenc Rorer September 1999
35
Tasigna 18 49 NILOTINIB HYDROCHLORIDE MONOHYDRATE Novartis October 2007
36
Torisel 18 49 TEMSIROLIMUS Wyeth May 2007
37
Trelstar Depot/ Trelstar LA 18 TRIPTORELIN PAMOATE Debio Rechereche Pharmaceutique, Target Research Associates/ Debiopharm June 2000/ June 2001
38
Trisenox 18 49 ARSENIC TRIOXIDE Cell Therapeutics September 2000
39
Tykerb 18 49 LAPATINIB DITOSYLATE GlaxoSmithKline March 2007
40
Unituxin 18 49 DINUTUXIMAB United Therapeutics March 2015
41
UroXatral 18 ALFUZOSIN HYDROCHLORIDE Sanofi-aventis June 2003
42
Valchlor 18 MECHLORETHAMINE HYDROCHLORIDE Ceptaris Therapeutics August 2013
43
Vectibix 18 49 PANITUMUMAB Amgen September 2006
44
Xofigo 18 49 RADIUM RA-223 DICHLORIDE Bayer Healthcare Pharmaceuticals May 2013
45
Zuplenz 18 ONDANSETRON Strativa Pharmaceuticals July 2010
46
Advair 18 FLUTICASONE PROPIONATE; SALMETEROL XINAFOATE GlaxoSmithKline August 2000
47
Aldurazyme 18 LARONIDASE Genzyme May 2003
48
Alvesco 18 CICLESONIDE Nycomed January 2008
49
Anoro Ellipta 18 UMECLIDINIUM BROMIDE; VILANTEROL TRIFENATATE GlaxoSmithKline December of 2013
50
Arnuity Ellipta 18 FLUTICASONE FUROATE GlaxoSmithKline August 2014

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

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

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 29 PTEN
2 Cowden Syndrome 1 29 PTEN
3 Bannayan-Riley-Ruvalcaba Syndrome 29
4 Pten Hamartoma Tumor Syndrome with Granular Cell Tumor 29

Anatomical Context for Cowden Syndrome 1

MalaCards organs/tissues related to Cowden Syndrome 1:

41
Breast, Thyroid, Skin, Colon, Cerebellum, Cortex, B Cells

Publications for Cowden Syndrome 1

Articles related to Cowden Syndrome 1:

(show top 50) (show all 55)
# Title Authors Year
1
Unexpected cancer-predisposition gene variants in Cowden syndrome and Bannayan-Riley-Ruvalcaba syndrome patients without underlying germline PTEN mutations. ( 29684080 )
2018
2
Hemimegalencephaly with Bannayan-Riley-Ruvalcaba syndrome. ( 29444762 )
2018
3
Lichen planus hypertrophicus-inversus occurring in a patient with Bannayan-Riley-Ruvalcaba syndrome. ( 29512180 )
2018
4
Bannayan-Riley-Ruvalcaba Syndrome in a Patient with a PTEN Mutation Identified by Chromosomal Microarray Analysis: A Case Report. ( 28401059 )
2017
5
Germline<i>TTN</i>variants are enriched in<i>PTEN</i>-wildtype Bannayan-Riley-Ruvalcaba syndrome. ( 29263846 )
2017
6
Say What? Bannayan-Riley-Ruvalcaba Syndrome Presenting with Gastrointestinal Bleeding Due to Hamartoma-Induced Intussusception. ( 28168574 )
2017
7
Polyposis deserves a perfect physical examination for final diagnosis: Bannayan-Riley-Ruvalcaba syndrome. ( 29168369 )
2017
8
Assessment of PTEN-associated vascular malformations in a patient with Bannayan-Riley-Ruvalcaba syndrome. ( 27358095 )
2016
9
Chromosome 10q23 Deletion Syndrome: An Overlap of Bannayan-Riley-Ruvalcaba Syndrome and Juvenile Polyposis Syndrome. ( 27535890 )
2016
10
A case of Bannayan-Riley-Ruvalcaba syndrome. A new clinical finding and brief review. ( 26228616 )
2015
11
Torsion of a giant mesocolic lipoma in a child with Bannayan-Riley-Ruvalcaba syndrome. ( 25008800 )
2014
12
Bannayan-Riley-Ruvalcaba syndrome with deforming lipomatous hamartomas in infant--case report. ( 24474112 )
2013
13
Complex dural arteriovenous fistula in Bannayan-Riley-Ruvalcaba syndrome. ( 23662932 )
2013
14
Bannayan-Riley-Ruvalcaba Syndrome (BRRS): An Uncommon Case of Haematochezia in a 3-year-old-boy. ( 23783019 )
2013
15
Thyroid involvement in two patients with bannayan-riley-ruvalcaba syndrome. ( 24379037 )
2013
16
Bannayan-Riley-Ruvalcaba Syndrome: MRI Neuroimaging Features in a Series of 7 Patients. ( 23907246 )
2013
17
Muscle hemangiomatosis presenting as a severe feature in a patient with the pten mutation: expanding the phenotype of vascular malformations in bannayan-riley-ruvalcaba syndrome. ( 24052722 )
2012
18
[Bannayan-Riley-Ruvalcaba syndrome and juvenile polyposis in a two-year-old girl]. ( 22673385 )
2012
19
Bannayan-Riley-Ruvalcaba syndrome with progressive spinal epidural lipomatosis. ( 22911484 )
2012
20
Cortical dysplasia associated with the PTEN mutation in Bannayan Riley Ruvalcaba syndrome: a rare finding. ( 22327138 )
2012
21
Recurrent and extensive vascular malformations in a patient with Bannayan--Riley--Ruvalcaba syndrome. ( 21856113 )
2011
22
Predicting PTEN mutations: an evaluation of Cowden syndrome and Bannayan-Riley-Ruvalcaba syndrome clinical features. ( 21659347 )
2011
23
Bannayan Riley Ruvalcaba syndrome. ( 20697678 )
2010
24
Bannayan-Riley-Ruvalcaba syndrome: a cause of extreme macrocephaly and neurodevelopmental delay. ( 19321504 )
2009
25
Treatment of intractable abdominal pain patient with Bannayan-Riley-Ruvalcaba syndrome using spinal cord stimulation. ( 19813502 )
2009
26
Anesthetic management of a child with Bannayan-Riley-Ruvalcaba syndrome. ( 18499642 )
2008
27
Testicular hamartomas in a patient with Bannayan-Riley-Ruvalcaba syndrome. ( 18645085 )
2008
28
Bannayan-Riley-Ruvalcaba syndrome with posterior subcapsular congenital cataract and a consensus sequence splicing PTEN mutation. ( 18080326 )
2008
29
Cowden syndrome and Bannayan Riley Ruvalcaba syndrome represent one condition with variable expression and age-related penetrance: results of a clinical study of PTEN mutation carriers. ( 17526800 )
2007
30
Airway obstruction caused by PTEN hamartoma (Bannayan-Riley-Ruvalcaba) syndrome. ( 18025323 )
2007
31
Distinct expression profiles for PTEN transcript and its splice variants in Cowden syndrome and Bannayan-Riley-Ruvalcaba syndrome. ( 16773562 )
2006
32
Cutaneous lipoma in children: 5 cases with Bannayan-Riley-Ruvalcaba syndrome. ( 16952599 )
2006
33
Bannayan-Riley-Ruvalcaba syndrome with reactive nodular lymphoid hyperplasia and autism and a PTEN mutation. ( 16894538 )
2006
34
Dural arteriovenous malformation in a child with Bannayan-Riley-Ruvalcaba Syndrome. ( 17032868 )
2006
35
Bannayan-riley-ruvalcaba syndrome from the point of view of the pediatric surgeon. ( 16909363 )
2006
36
Clinical and histopathological findings in Bannayan-Riley-Ruvalcaba syndrome. ( 16198785 )
2005
37
Germline PTEN promoter mutations and deletions in Cowden/Bannayan-Riley-Ruvalcaba syndrome result in aberrant PTEN protein and dysregulation of the phosphoinositol-3-kinase/Akt pathway. ( 12844284 )
2003
38
Bannayan-Riley-Ruvalcaba syndrome: further delineation of the phenotype and management of PTEN mutation-positive cases. ( 14574156 )
2003
39
Germline mutations in the PTEN gene in Israeli patients with Bannayan-Riley-Ruvalcaba syndrome and women with familial breast cancer. ( 12372056 )
2002
40
Bannayan-Riley-Ruvalcaba syndrome: report of a family. ( 12117207 )
2001
41
The spectrum and evolution of phenotypic findings in PTEN mutation positive cases of Bannayan-Riley-Ruvalcaba syndrome. ( 11332402 )
2001
42
An overlap of Cowden's disease and Bannayan-Riley-Ruvalcaba syndrome in the same family. ( 10640930 )
2000
43
Bannayan-Riley-Ruvalcaba syndrome: spectrum of intestinal pathology including juvenile polyps. ( 10679034 )
2000
44
Absence of germline mutations in MINPP1, a phosphatase encoding gene centromeric of PTEN, in patients with Cowden and Bannayan-Riley-Ruvalcaba syndrome without germline PTEN mutations. ( 11182934 )
2000
45
Long-chain L 3-hydroxyacyl-CoA dehydrogenase (LCHAD) deficiency does not appear to be the primary cause of lipid myopathy in patients with Bannayan-Riley-Ruvalcaba syndrome (BRRS). ( 10076877 )
1999
46
PTEN mutation spectrum and genotype-phenotype correlations in Bannayan-Riley-Ruvalcaba syndrome suggest a single entity with Cowden syndrome. ( 10400993 )
1999
47
Balanced translocation of 10q and13q, including the PTEN gene, in a boy with a human chorionic gonadotropin-secreting tumor and the Bannayan-Riley-Ruvalcaba syndrome. ( 10599735 )
1999
48
Germline PTEN mutation in a family with Cowden syndrome and Bannayan-Riley-Ruvalcaba syndrome. ( 9856571 )
1998
49
Absence of PTEN/MMAC1 germ-line mutations in sporadic Bannayan-Riley-Ruvalcaba syndrome. ( 9661881 )
1998
50
Localization of the Bannayan-Riley-Ruvalcaba syndrome gene to chromosome 10q23. ( 9352843 )
1997

Variations for Cowden Syndrome 1

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

75 (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
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 1265)
# Gene Variation Type Significance SNP ID Assembly Location
1 PTEN NM_000314.6(PTEN): c.386G> A (p.Gly129Glu) single nucleotide variant Pathogenic rs121909218 GRCh37 Chromosome 10, 89692902: 89692902
2 PTEN NM_000314.6(PTEN): c.386G> A (p.Gly129Glu) single nucleotide variant Pathogenic rs121909218 GRCh38 Chromosome 10, 87933145: 87933145
3 PTEN NM_000314.6(PTEN): c.697C> T (p.Arg233Ter) single nucleotide variant Pathogenic rs121909219 GRCh37 Chromosome 10, 89717672: 89717672
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.335T> C (p.Leu112Pro) single nucleotide variant Pathogenic rs121909230 GRCh38 Chromosome 10, 87933094: 87933094
6 PTEN NM_000314.6(PTEN): c.697C> T (p.Arg233Ter) single nucleotide variant Pathogenic rs121909219 GRCh38 Chromosome 10, 87957915: 87957915
7 PTEN NM_000314.6(PTEN): c.469G> T (p.Glu157Ter) single nucleotide variant Pathogenic rs121909220 GRCh37 Chromosome 10, 89692985: 89692985
8 PTEN NM_000314.6(PTEN): c.469G> T (p.Glu157Ter) single nucleotide variant Pathogenic rs121909220 GRCh38 Chromosome 10, 87933228: 87933228
9 PTEN NM_000314.6(PTEN): c.510T> A (p.Ser170Arg) single nucleotide variant Pathogenic rs121909221 GRCh37 Chromosome 10, 89711892: 89711892
10 PTEN NM_000314.6(PTEN): c.510T> A (p.Ser170Arg) single nucleotide variant Pathogenic rs121909221 GRCh38 Chromosome 10, 87952135: 87952135
11 PTEN NM_000314.6(PTEN): c.368A> G (p.His123Arg) single nucleotide variant Pathogenic rs121909222 GRCh37 Chromosome 10, 89692884: 89692884
12 PTEN NM_000314.6(PTEN): c.368A> G (p.His123Arg) single nucleotide variant Pathogenic rs121909222 GRCh38 Chromosome 10, 87933127: 87933127
13 PTEN NM_000314.6(PTEN): c.370T> C (p.Cys124Arg) single nucleotide variant Pathogenic rs121909223 GRCh37 Chromosome 10, 89692886: 89692886
14 PTEN NM_000314.6(PTEN): c.370T> C (p.Cys124Arg) single nucleotide variant Pathogenic rs121909223 GRCh38 Chromosome 10, 87933129: 87933129
15 PTEN NM_000314.6(PTEN): c.347_351delACAAT (p.Asp116Alafs) deletion Pathogenic rs587776666 GRCh37 Chromosome 10, 89692863: 89692867
16 PTEN NM_000314.6(PTEN): c.347_351delACAAT (p.Asp116Alafs) deletion Pathogenic rs587776666 GRCh38 Chromosome 10, 87933106: 87933110
17 PTEN NM_000314.6(PTEN): c.388C> T (p.Arg130Ter) single nucleotide variant Pathogenic rs121909224 GRCh37 Chromosome 10, 89692904: 89692904
18 PTEN NM_000314.6(PTEN): c.388C> T (p.Arg130Ter) single nucleotide variant Pathogenic rs121909224 GRCh38 Chromosome 10, 87933147: 87933147
19 PTEN NM_000314.6(PTEN): c.253+1G> A single nucleotide variant Pathogenic/Likely pathogenic rs587776667 GRCh37 Chromosome 10, 89690847: 89690847
20 PTEN NM_000314.6(PTEN): c.253+1G> A single nucleotide variant Pathogenic/Likely pathogenic rs587776667 GRCh38 Chromosome 10, 87931090: 87931090
21 PTEN NM_000314.6(PTEN): c.492+2T> G single nucleotide variant Pathogenic rs587776668 GRCh37 Chromosome 10, 89693010: 89693010
22 PTEN NM_000314.6(PTEN): c.492+2T> G single nucleotide variant Pathogenic rs587776668 GRCh38 Chromosome 10, 87933253: 87933253
23 PTEN NM_000314.6(PTEN): c.696delA (p.Arg233Aspfs) deletion Pathogenic rs587776669 GRCh37 Chromosome 10, 89717671: 89717671
24 PTEN NM_000314.6(PTEN): c.696delA (p.Arg233Aspfs) deletion Pathogenic rs587776669 GRCh38 Chromosome 10, 87957914: 87957914
25 PTEN NM_000314.6(PTEN): c.586delC (p.His196Thrfs) deletion Pathogenic rs587776670 GRCh37 Chromosome 10, 89711968: 89711968
26 PTEN NM_000314.6(PTEN): c.586delC (p.His196Thrfs) deletion Pathogenic rs587776670 GRCh38 Chromosome 10, 87952211: 87952211
27 PTEN NM_000314.6(PTEN): c.534_535delTAinsAT (p.Tyr178Ter) indel Pathogenic rs397515374 GRCh37 Chromosome 10, 89711916: 89711917
28 PTEN NM_000314.6(PTEN): c.534_535delTAinsAT (p.Tyr178Ter) indel Pathogenic rs397515374 GRCh38 Chromosome 10, 87952159: 87952160
29 PTEN NM_000314.6(PTEN): c.104T> G (p.Met35Arg) single nucleotide variant Pathogenic rs121909225 GRCh37 Chromosome 10, 89653806: 89653806
30 PTEN NM_000314.6(PTEN): c.104T> G (p.Met35Arg) single nucleotide variant Pathogenic rs121909225 GRCh38 Chromosome 10, 87894049: 87894049
31 PTEN NM_000314.6(PTEN): c.209T> C (p.Leu70Pro) single nucleotide variant Pathogenic rs121909226 GRCh37 Chromosome 10, 89685314: 89685314
32 PTEN NM_000314.6(PTEN): c.209T> C (p.Leu70Pro) single nucleotide variant Pathogenic rs121909226 GRCh38 Chromosome 10, 87925557: 87925557
33 PTEN NM_000314.6(PTEN): c.640C> T (p.Gln214Ter) single nucleotide variant Pathogenic rs121909227 GRCh37 Chromosome 10, 89717615: 89717615
34 PTEN NM_000314.6(PTEN): c.640C> T (p.Gln214Ter) single nucleotide variant Pathogenic rs121909227 GRCh38 Chromosome 10, 87957858: 87957858
35 PTEN NM_000314.6(PTEN): c.766G> T (p.Glu256Ter) single nucleotide variant Pathogenic rs121909228 GRCh37 Chromosome 10, 89717741: 89717741
36 PTEN NM_000314.6(PTEN): c.766G> T (p.Glu256Ter) single nucleotide variant Pathogenic rs121909228 GRCh38 Chromosome 10, 87957984: 87957984
37 PTEN NM_000314.6(PTEN): c.389G> A (p.Arg130Gln) single nucleotide variant Pathogenic rs121909229 GRCh37 Chromosome 10, 89692905: 89692905
38 PTEN NM_000314.6(PTEN): c.389G> A (p.Arg130Gln) single nucleotide variant Pathogenic rs121909229 GRCh38 Chromosome 10, 87933148: 87933148
39 PTEN NM_000314.6(PTEN): c.1003C> T (p.Arg335Ter) single nucleotide variant Pathogenic rs121909231 GRCh37 Chromosome 10, 89720852: 89720852
40 PTEN NM_000314.6(PTEN): c.1003C> T (p.Arg335Ter) single nucleotide variant Pathogenic rs121909231 GRCh38 Chromosome 10, 87961095: 87961095
41 PTEN NM_000314.6(PTEN): c.40dupA (p.Arg14Lysfs) duplication Pathogenic rs587776671 GRCh38 Chromosome 10, 87864509: 87864509
42 PTEN NM_000314.6(PTEN): c.40dupA (p.Arg14Lysfs) duplication Pathogenic rs587776671 GRCh37 Chromosome 10, 89624266: 89624266
43 PTEN PTEN, CYS124SER undetermined variant Pathogenic
44 PTEN NM_000314.6(PTEN): c.633C> A (p.Cys211Ter) single nucleotide variant Pathogenic rs121909232 GRCh37 Chromosome 10, 89712015: 89712015
45 PTEN NM_000314.6(PTEN): c.633C> A (p.Cys211Ter) single nucleotide variant Pathogenic rs121909232 GRCh38 Chromosome 10, 87952258: 87952258
46 PTEN NM_000314.6(PTEN): c.802delG (p.Asp268Thrfs) deletion Pathogenic rs587776672 GRCh37 Chromosome 10, 89720651: 89720651
47 PTEN NM_000314.6(PTEN): c.802delG (p.Asp268Thrfs) deletion Pathogenic rs587776672 GRCh38 Chromosome 10, 87960894: 87960894
48 PTEN NM_000314.6(PTEN): c.701G> A (p.Arg234Gln) single nucleotide variant Uncertain significance rs121909235 GRCh37 Chromosome 10, 89717676: 89717676
49 PTEN NM_000314.6(PTEN): c.701G> A (p.Arg234Gln) single nucleotide variant Uncertain significance rs121909235 GRCh38 Chromosome 10, 87957919: 87957919
50 PTEN NM_000314.6(PTEN): c.507delC (p.Ser170Valfs) deletion Pathogenic rs587776673 GRCh37 Chromosome 10, 89711889: 89711889

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 7
2 COSM10648 TP53 skin,penis,carcinoma,NS c.524G>A p.R175H 17:7675088-7675088 7
3 COSM748 PIK3CA skin,penis,carcinoma,NS c.317G>T p.G106V 3:179199142-179199142 7
4 COSM35624 MYCN skin,penis,carcinoma,NS c.131C>T p.P44L 2:15942195-15942195 7
5 COSM6949581 DOT1L skin,penis,carcinoma,NS c.4292C>T p.A1431V 19:2226813-2226813 7
6 COSM729830 skin,penis,carcinoma,NS c.317G>T p.G106V 3:179199142-179199142 7
7 COSM6949580 skin,penis,carcinoma,NS c.4292C>T p.A1431V 19:2226813-2226813 7
8 COSM99022 skin,penis,carcinoma,NS c.524G>A p.R175H 17:7675088-7675088 7
9 COSM1640851 skin,penis,carcinoma,NS c.524G>A p.R175H 17:7675088-7675088 7
10 COSM99914 skin,penis,carcinoma,NS c.524G>A p.R175H 17:7675088-7675088 7
11 COSM3355994 skin,penis,carcinoma,NS c.524G>A p.R175H 17:7675088-7675088 7
12 COSM99024 skin,penis,carcinoma,NS c.245G>A p.R82H 17:7675088-7675088 7
13 COSM99023 skin,penis,carcinoma,NS c.128G>A p.R43H 17:7675088-7675088 7
14 COSM6949579 skin,penis,carcinoma,NS c.1640C>T p.A547V 3:189894381-189894381 7
15 COSM33765 AKT1 skin,NS,Overgrowth syndrome,Proteus syndrome c.49G>A p.E17K 14:104780214-104780214 5

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 34)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.1 AKT1 BMPR1A EGFR PTEN TCF4
2
Show member pathways
12.73 AKT1 EGFR PTEN TSC2
3
Show member pathways
12.71 AKT1 EGFR PTEN TNS1
4
Show member pathways
12.67 AKT1 EGFR PTEN TSC2
5
Show member pathways
12.56 AKT1 EGFR PTEN TSC2
6
Show member pathways
12.5 AKT1 EGFR PTEN TSC2
7
Show member pathways
12.43 AKT1 EGFR PTEN TSC2
8
Show member pathways
12.22 AKT1 EGFR PTEN TSC2
9
Show member pathways
12.05 AKT1 EGFR PTEN
10 12 AKT1 EGFR TCF4
11 12 AKT1 EGFR PTEN
12 11.98 AKT1 PTEN TSC2
13
Show member pathways
11.94 AKT1 EGFR PTEN
14
Show member pathways
11.92 AKT1 EGFR PTEN TSC2
15
Show member pathways
11.88 AKT1 EGFR PTEN
16 11.84 EGFR PTEN TSC2
17 11.81 AKT1 PTEN TSC2
18 11.78 AKT1 EGFR PTEN TSC2
19
Show member pathways
11.72 AKT1 EGFR PTEN TSC2
20 11.65 AKT1 PTEN TSC2
21 11.63 AKT1 EGFR PTEN
22 11.58 AKT1 PTEN TSC2
23 11.54 AKT1 BMPR1A EGFR PTEN TSC2
24 11.39 AKT1 EGFR PTEN
25 11.27 AKT1 TCF4 TSC2
26 11.19 AKT1 TSC2
27 11.15 AKT1 EGFR
28 11.14 AKT1 PTEN
29 11.14 AKT1 PTEN
30 11.11 AKT1 EGFR
31 11.07 AKT1 EGFR PTEN TCF4 TSC2
32 11.05 AKT1 TSC2
33 10.85 AKT1 EGFR
34 10.81 AKT1 PTEN TSC2

GO Terms for Cowden Syndrome 1

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

(show all 16)
# Name GO ID Score Top Affiliating Genes
1 positive regulation of transcription, DNA-templated GO:0045893 9.85 AKT1 BMPR1A EGFR TCF4
2 nervous system development GO:0007399 9.8 AKT1 BMPR1A PTEN TCF4
3 cellular response to nerve growth factor stimulus GO:1990090 9.56 AKT1 PTEN
4 cellular response to reactive oxygen species GO:0034614 9.54 AKT1 EGFR
5 positive regulation of vasoconstriction GO:0045907 9.52 AKT1 EGFR
6 regulation of neuron projection development GO:0010975 9.51 AKT1 PTEN
7 regulation of nitric-oxide synthase activity GO:0050999 9.48 AKT1 EGFR
8 negative regulation of phosphatidylinositol 3-kinase signaling GO:0014067 9.46 PTEN TSC2
9 insulin-like growth factor receptor signaling pathway GO:0048009 9.43 AKT1 TSC2
10 negative regulation of protein kinase B signaling GO:0051898 9.43 AKT1 PTEN TSC2
11 anoikis GO:0043276 9.4 AKT1 TSC2
12 negative regulation of cell size GO:0045792 9.37 AKT1 PTEN
13 obsolete positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle GO:0031659 9.32 AKT1 EGFR
14 cellular response to decreased oxygen levels GO:0036294 9.16 AKT1 PTEN
15 response to UV-A GO:0070141 8.96 AKT1 EGFR
16 protein kinase B signaling GO:0043491 8.8 AKT1 PTEN TSC2

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

# Name GO ID Score Top Affiliating Genes
1 nitric-oxide synthase regulator activity GO:0030235 8.62 AKT1 EGFR

Sources for Cowden Syndrome 1

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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