CWS1
MCID: CWD006
MIFTS: 76

Cowden Syndrome 1 (CWS1)

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

Aliases & Classifications for Cowden Syndrome 1

MalaCards integrated aliases for Cowden Syndrome 1:

Name: Cowden Syndrome 1 57 74 29 13 6
Pten Hamartoma Tumor Syndrome 57 12 24 53 59 74 37 29 6 15 72
Bannayan-Riley-Ruvalcaba Syndrome 57 12 53 25 59 74 29 6 15 40
Bannayan-Zonana Syndrome 57 12 75 53 25 74 55
Lhermitte-Duclos Disease 59 74 29 6 72
Riley-Smith Syndrome 57 12 53 25 74
Phts 57 24 53 59 74
Ruvalcaba-Myhre-Smith Syndrome 57 12 25 74
Bzs 57 53 25 74
Rmss 57 53 74
Brrs 53 25 59
Pten Hamartoma Tumor Syndrome with Granular Cell Tumor 57 29
Macrocephaly Multiple Lipomas and Hemangiomata 53 74
Dysplastic Gangliocytoma of the Cerebellum 59 74
Bannayan-Ruvalcaba-Riley Syndrome 25 74
Cerebelloparenchymal Disorder Vi 74 72
Hamartoma Syndrome, Multiple 44 72
Multiple Hamartoma Syndrome 57 74
Myhre-Riley-Smith Syndrome 25 59
Lhermitte-Duclos Syndrome 57 29
Cowden Disease 74 55
Cws1 57 74
Mham 57 74
Ldd 59 74
Cs 57 74
Cd 57 74
Macrocephaly, Pseudopapilledema, and Multiple Hemangiomata 57
Macrocephaly Pseudopapilledema and Multiple Hemangiomata 74
Macrocephaly Pseudopapilledema and Multiple Hemangiomas 53
Cerebellar Granule Cell Hypertrophy and Megalencephaly 74
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
Ruvalcaba-Myhre Syndrome 25
Proteus-Like Syndrome 59
Cohen-Hayden Syndrome 59
Cs; Cd 57
Bbrs 57
Cpd6 74

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;
pten hamartoma tumor syndrome
Inheritance: Autosomal dominant; Age of onset: All ages; Age of death: any age;
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:
Inheritance autosomal dominant inheritance
Onset and clinical course juvenile onset adult onset


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 & 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
KEGG 37 H00539
MeSH 44 D006223
NCIt 50 C3939
ICD10 33 Q87.89
ICD10 via Orphanet 34 Q04.8 Q87.3 Q87.8
UMLS via Orphanet 73 C0265326 C0391826 C1266181 more
UMLS 72 C0018553 C0391826 C1834711 more

Summaries for Cowden Syndrome 1

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. At least half of affected infants have macrocephaly, and many also have a high birth weight and a large body size (macrosomia). Growth usually slows during childhood, so affected adults are of normal height and body size. About half of all children with Bannayan-Riley-Ruvalcaba syndrome have intellectual disability or delayed development, particularly the development of speech and of motor skills such as sitting, crawling, and walking. These delays may improve with age. About half of all people with Bannayan-Riley-Ruvalcaba syndrome develop hamartomas in their intestines, known as hamartomatous polyps. Other noncancerous growths often associated with Bannayan-Riley-Ruvalcaba syndrome include fatty tumors called lipomas and angiolipomas that develop under the skin. Some affected individuals also develop hemangiomas, which are red or purplish growths that consist of tangles of abnormal blood vessels. People with Bannayan-Riley-Ruvalcaba syndrome may also have an increased risk of developing certain cancers, although researchers are still working to determine the cancer risks associated with this condition. Other signs and symptoms that have been reported in people with Bannayan-Riley-Ruvalcaba syndrome include weak muscle tone (hypotonia) and other muscle abnormalities, thyroid problems, and seizures. Skeletal abnormalities have also been described with this condition, including an unusually large range of joint movement (hyperextensibility), abnormal side-to-side curvature of the spine (scoliosis), and a sunken chest (pectus excavatum). The features of Bannayan-Riley-Ruvalcaba syndrome overlap with those of another disorder called Cowden syndrome. People with Cowden syndrome develop hamartomas and other noncancerous growths; they also have an increased risk of developing certain types of cancer. Both conditions can be caused by mutations in the PTEN gene. Some people with Bannayan-Riley-Ruvalcaba syndrome have had relatives diagnosed with Cowden syndrome, and other individuals have had the characteristic features of both conditions. Based on these similarities, researchers have proposed that Bannayan-Riley-Ruvalcaba syndrome and Cowden syndrome represent a spectrum of overlapping features known as PTEN hamartoma tumor syndrome instead of two distinct conditions. PTEN PTEN

MalaCards based summary : Cowden Syndrome 1, also known as pten hamartoma tumor 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 ERK Signaling and Gene Expression. The drugs Verteporfin and Dermatologic Agents have been mentioned in the context of this disorder. Affiliated tissues include thyroid, breast 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.

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)

KEGG : 37
PTEN hamartoma tumor syndrome (PHTS) is a spectrum of disorders associated with the formation of hamartomas caused by mutations of the tumor suppressor PTEN. The hamartomas tend to be both benign and malignant tumors, especially in Cowden syndrome.

UniProtKB/Swiss-Prot : 74 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.

Wikipedia : 75 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 1029)
# Related Disease Score Top Affiliating Genes
1 juvenile polyposis syndrome 32.3 STK11 SMAD4 PTEN BMPR1A
2 proteus syndrome 31.7 PTEN PIK3CA CDKN3
3 chromosome 10q23 deletion syndrome 31.6 PTEN BMPR1A
4 macrocephaly/autism syndrome 31.6 PTEN KLLN
5 juvenile polyposis of infancy 31.6 PTEN BMPR1A
6 benign ependymoma 30.5 TSC2 TSC1
7 congenital heart defects, hamartomas of tongue, and polysyndactyly 30.3 TSC2 TSC1 STK11 PTEN
8 macrodactyly 30.2 TSC1 PIK3CA
9 hereditary breast ovarian cancer syndrome 30.1 PTEN BRCA2 BRCA1
10 megalencephaly 29.6 TSC1 STK11 PTEN PIK3CA
11 lynch syndrome 29.5 EGFR BRCA2 BRCA1
12 uterine carcinosarcoma 29.4 PTEN PIK3CA EGFR
13 small cell cancer of the lung 29.4 PTEN PIK3CA EGFR
14 suppression of tumorigenicity 12 29.3 SMAD4 PTEN PIK3CA
15 ovarian disease 29.2 PTEN BRCA2 BRCA1
16 breast adenocarcinoma 29.0 SMAD4 PTEN PIK3CA EGFR
17 pancreatic neuroendocrine tumor 29.0 PIK3CA BRCA2
18 autism spectrum disorder 29.0 TSC2 TSC1 PTEN
19 adenocarcinoma 28.9 STK11 SMAD4 PTEN PIK3CA EGFR
20 tuberous sclerosis 28.9 TSC2 TSC1 STK11 PIK3CA
21 glioblastoma 28.7 PTEN PIK3CA EGFR BRCA2
22 gastric adenocarcinoma 28.6 SMAD4 PTEN PIK3CA EGFR
23 cervical cancer 28.6 STK11 SMAD4 PTEN PIK3CA
24 glioma 28.5 PTEN PIK3CA EGFR BRCA2
25 brain cancer 28.5 PTEN PIK3CA EGFR BRCA2
26 squamous cell carcinoma 28.5 STK11 SMAD4 PTEN PIK3CA EGFR
27 esophageal cancer 28.4 SMAD4 PTEN PIK3CA EGFR
28 peutz-jeghers syndrome 28.4 TSC2 TSC1 STK11 SMAD4 PTEN BRCA2
29 lung cancer susceptibility 3 28.3 STK11 SMAD4 PIK3CA EGFR
30 medulloblastoma 28.2 PTEN PIK3CA EGFR BRCA2
31 ovarian cancer 28.0 PTEN PIK3CA EGFR BRCA2 BRCA1
32 colorectal cancer 27.5 STK11 SMAD4 PTEN PIK3CA EGFR BRCA2
33 endometrial cancer 27.5 PTEN PIK3CA EGFR CDKN3 BRCA2 BRCA1
34 prostate cancer 27.5 PTEN PIK3CA EGFR CDKN3 BRCA2 BRCA1
35 pancreatic cancer 27.4 STK11 SMAD4 PIK3CA EGFR BRCA2 BRCA1
36 breast cancer 25.6 STK11 SMAD4 PTEN PIK3CA KLLN EGFR
37 proteus like syndrome mental retardation eye defect 12.5
38 cockayne syndrome 12.1
39 xeroderma pigmentosum, complementation group d 11.9
40 xeroderma pigmentosum, complementation group g 11.9
41 chanarin-dorfman syndrome 11.9
42 castleman disease 11.9
43 cervical dystonia 11.8
44 crouzon syndrome 11.8
45 xeroderma pigmentosum, complementation group f 11.8
46 xeroderma pigmentosum, complementation group b 11.8
47 megalencephaly-capillary malformation-polymicrogyria syndrome 11.7
48 epilepsy occipital calcifications 11.7
49 primary pigmented nodular adrenocortical disease 11.6
50 intervertebral disc disease 11.6

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:

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%),Very frequent (99-80%) HP:0000256
2 hydrocephalus 59 32 hallmark (90%) Frequent (79-30%),Very frequent (99-80%) HP:0000238
3 seizures 59 32 occasional (7.5%) Occasional (29-5%),Very frequent (99-80%) HP:0001250
4 ataxia 59 32 hallmark (90%) Very frequent (99-80%) HP:0001251
5 nausea and vomiting 59 32 hallmark (90%) Very frequent (99-80%) HP:0002017
6 macroglossia 59 32 hallmark (90%) Very frequent (99-80%) HP:0000158
7 increased intracranial pressure 59 32 hallmark (90%) Very frequent (99-80%) HP:0002516
8 short stature 59 32 hallmark (90%) Very frequent (99-80%) HP:0004322
9 cranial nerve paralysis 59 32 hallmark (90%) Very frequent (99-80%) HP:0006824
10 papule 59 32 hallmark (90%) Frequent (79-30%),Very frequent (99-80%) HP:0200034
11 arteriovenous malformation 59 32 hallmark (90%) Very frequent (99-80%) HP:0100026
12 nevus 59 32 hallmark (90%) Very frequent (99-80%) HP:0003764
13 capillary hemangioma 59 32 hallmark (90%) Very frequent (99-80%) HP:0005306
14 visceral angiomatosis 59 32 hallmark (90%) Very frequent (99-80%) HP:0100761
15 irregular hyperpigmentation 59 32 hallmark (90%) Very frequent (99-80%),Very frequent (99-80%) HP:0007400
16 headache 59 32 hallmark (90%) Very frequent (99-80%) HP:0002315
17 hand polydactyly 59 32 hallmark (90%) Very frequent (99-80%) HP:0001161
18 plantar pits 59 32 hallmark (90%) Very frequent (99-80%) HP:0010612
19 intestinal polyposis 59 32 hallmark (90%) Very frequent (99-80%) HP:0200008
20 polymicrogyria 59 32 hallmark (90%) Very frequent (99-80%) HP:0002126
21 hamartomatous polyposis 59 32 hallmark (90%) Very frequent (99-80%) HP:0004390
22 lipoma 59 32 hallmark (90%) Very frequent (99-80%),Very frequent (99-80%) HP:0012032
23 papilloma 59 32 hallmark (90%) Very frequent (99-80%) HP:0012740
24 neoplasm of the breast 59 32 hallmark (90%) Very frequent (99-80%) HP:0100013
25 ganglioneuroma 59 32 hallmark (90%) Very frequent (99-80%) HP:0003005
26 abnormal large intestine morphology 59 32 hallmark (90%) Very frequent (99-80%) HP:0002250
27 multiple trichilemmomata 59 32 hallmark (90%) Very frequent (99-80%) HP:0012846
28 enlarged cerebellum 59 32 hallmark (90%) Very frequent (99-80%) HP:0012081
29 pectus excavatum 59 32 frequent (33%) Frequent (79-30%) HP:0000767
30 scoliosis 59 32 frequent (33%) Frequent (79-30%) HP:0002650
31 subcutaneous nodule 59 32 frequent (33%) Frequent (79-30%) HP:0001482
32 renal cell carcinoma 59 32 frequent (33%) Frequent (79-30%) HP:0005584
33 hemangioma 59 32 frequent (33%) Very frequent (99-80%),Frequent (79-30%) HP:0001028
34 subcutaneous hemorrhage 59 32 frequent (33%) Frequent (79-30%) HP:0001933
35 breast carcinoma 59 32 frequent (33%) Frequent (79-30%) HP:0003002
36 ovarian neoplasm 59 32 frequent (33%) Frequent (79-30%) HP:0100615
37 freckling 59 32 frequent (33%) Frequent (79-30%) HP:0001480
38 endometrial carcinoma 59 32 frequent (33%) Frequent (79-30%) HP:0012114
39 neoplasm of the thyroid gland 59 32 frequent (33%) Frequent (79-30%) HP:0100031
40 acrokeratosis 59 32 frequent (33%) Frequent (79-30%) HP:0200016
41 autistic behavior 59 32 frequent (33%) Frequent (79-30%) HP:0000729
42 thyroid carcinoma 59 32 occasional (7.5%) Occasional (29-5%),Frequent (79-30%) HP:0002890
43 fibroadenoma of the breast 59 32 frequent (33%) Frequent (79-30%) HP:0010619
44 hyperkeratotic papule 59 32 frequent (33%) Frequent (79-30%) HP:0045059
45 trichilemmoma 59 32 frequent (33%) Frequent (79-30%) HP:0012844
46 frontal bossing 59 32 occasional (7.5%) Occasional (29-5%) HP:0002007
47 intellectual disability 59 32 occasional (7.5%) Occasional (29-5%),Very frequent (99-80%),Occasional (29-5%) HP:0001249
48 muscular hypotonia 59 32 occasional (7.5%) Occasional (29-5%) HP:0001252
49 neurological speech impairment 59 32 occasional (7.5%) Occasional (29-5%) HP:0002167
50 narrow palate 59 32 occasional (7.5%) Occasional (29-5%) HP:0000189

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

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 (show all 13)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased viability GR00055-A-2 10.28 PIK3CA
2 Decreased viability GR00221-A-1 10.28 BMPR1A PIK3CA
3 Decreased viability GR00221-A-2 10.28 BMPR1A BRCA1 PIK3CA TSC1
4 Decreased viability GR00221-A-3 10.28 BMPR1A BRCA1 TSC1
5 Decreased viability GR00221-A-4 10.28 BMPR1A PIK3CA
6 Decreased viability GR00301-A 10.28 BRCA1 TSC1
7 Decreased viability GR00402-S-2 10.28 BMPR1A BRCA1 PIK3CA TSC1
8 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
9 Increased cell death in breast cancer cell lines (MCF10A, MDA-MB-435) GR00104-A-0 9.43 BMPR1A CDKN3 PTEN
10 Decreased sensitivity to paclitaxel GR00112-A-0 9.37 PTEN SMAD4
11 Increased cell viability after pRB stimulation GR00230-A-1 9.33 BMPR1A EGFR STK11
12 Increased mitotic index GR00110-A-0 9.13 BMPR1A SMAD4 STK11
13 Upregulation of Wnt/beta-catenin pathway after WNT3A stimulation GR00016-A 9.02 BRCA1 BRCA2 SMAD4 TSC1 TSC2

MGI Mouse Phenotypes related to Cowden Syndrome 1:

46 (show all 24)
# Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 10.3 BMPR1A BRCA1 BRCA2 EGFR PIK3CA PTEN
2 embryo MP:0005380 10.29 BMPR1A BRCA1 BRCA2 EGFR PIK3CA PTEN
3 endocrine/exocrine gland MP:0005379 10.28 BMPR1A BRCA1 BRCA2 EGFR PIK3CA PTEN
4 behavior/neurological MP:0005386 10.27 BMPR1A BRCA1 BRCA2 PIK3CA PTEN SMAD4
5 growth/size/body region MP:0005378 10.27 BMPR1A BRCA1 BRCA2 EGFR PIK3CA PTEN
6 cardiovascular system MP:0005385 10.26 BMPR1A BRCA1 EGFR PIK3CA PTEN SMAD4
7 homeostasis/metabolism MP:0005376 10.26 BMPR1A BRCA1 BRCA2 EGFR PIK3CA PTEN
8 integument MP:0010771 10.24 BMPR1A BRCA1 BRCA2 EGFR PIK3CA PTEN
9 mortality/aging MP:0010768 10.19 BMPR1A BRCA1 BRCA2 EGFR PIK3CA PTEN
10 hematopoietic system MP:0005397 10.17 BMPR1A BRCA1 BRCA2 EGFR PTEN SMAD4
11 neoplasm MP:0002006 10.16 BMPR1A BRCA1 BRCA2 EGFR PIK3CA PTEN
12 immune system MP:0005387 10.15 BMPR1A BRCA1 BRCA2 EGFR PIK3CA PTEN
13 nervous system MP:0003631 10.13 BMPR1A BRCA1 BRCA2 EGFR PIK3CA PTEN
14 digestive/alimentary MP:0005381 10.08 BRCA1 BRCA2 EGFR PTEN SMAD4 STK11
15 muscle MP:0005369 10.08 BMPR1A BRCA1 EGFR PIK3CA PTEN SMAD4
16 normal MP:0002873 10.01 BMPR1A BRCA1 BRCA2 EGFR PTEN SMAD4
17 limbs/digits/tail MP:0005371 10 BMPR1A BRCA1 BRCA2 EGFR PTEN SMAD4
18 liver/biliary system MP:0005370 9.99 EGFR PTEN SMAD4 STK11 TSC1 TSC2
19 reproductive system MP:0005389 9.96 BMPR1A BRCA1 BRCA2 EGFR PIK3CA PTEN
20 renal/urinary system MP:0005367 9.87 BRCA1 EGFR PTEN SMAD4 STK11 TSC1
21 pigmentation MP:0001186 9.67 BMPR1A BRCA1 EGFR PTEN
22 respiratory system MP:0005388 9.63 BMPR1A BRCA1 EGFR PTEN STK11 TSC1
23 skeleton MP:0005390 9.56 BMPR1A BRCA1 BRCA2 EGFR PIK3CA PTEN
24 vision/eye MP:0005391 9.1 BMPR1A EGFR PIK3CA PTEN STK11 TSC1

Drugs & Therapeutics for Cowden Syndrome 1

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
Verteporfin Approved, Investigational Phase 3 129497-78-5
2 Dermatologic Agents Phase 3
3 Photosensitizing Agents Phase 3
4
Aminolevulinic acid Approved Phase 2 106-60-5 137
5 Fluorodeoxyglucose F18 Phase 2
6 Radiopharmaceuticals Phase 2
7 Pharmaceutical Solutions Phase 2
8
Trastuzumab Approved, Investigational Phase 1 180288-69-1 9903
9 Dactolisib Investigational Phase 1 915019-65-7
10 Antineoplastic Agents, Immunological Phase 1
11
Acitretin Approved 55079-83-9, 69427-46-9 6437841
12 Keratolytic Agents
13 Vaccines

Interventional clinical trials:

(show all 18)
# Name Status NCT ID Phase Drugs
1 A Randomized, Placebo-Controlled, Masked, Multicenter Phase III Study Of Photodynamic Therapy With Verteporfin For Injection (VFI) For The Treatment Of Multiple Basal Cell Carcinoma Terminated NCT00049959 Phase 3 verteporfin PDT
2 A Pilot Study of Sirolimus (Rapamycin, Rapamune[Registered Trademark]) in Subjects With Cowden Syndrome or Other Syndromes Characterized by Germline Mutations in PTEN Completed NCT00971789 Phase 2 sirolimus
3 A Randomized, Double-blinded, Regimen-controlled, Phase II, Multicenter Study to Assess the Efficacy and Safety of Two Different Vismodegib Regimens in Patients With Multiple Basal Cell Carcinomas Completed NCT01815840 Phase 2 Vismodegib;Placebo
4 A Phase I/II, Multi-center, Open-label Study of BGT226, Administered Orally in Adult Patients With Advanced Solid Malignancies Including Patients With Advanced Breast Cancer Completed NCT00600275 Phase 1, Phase 2 BGT226
5 A Phase II Randomized, Open Label Trial Comparing the Effects of Intermittent Vismodegib Versus PDT on the Maintenance of Benefit Following 7 Months of Continuous Vismodegib Treatment in Patients With Multiple Basal Cell Carcinomas Completed NCT01556009 Phase 2 Vismodegib;Aminolevulinic acid %20 topical solution
6 A Randomized Double-Blind Controlled Trial of Everolimus in Individuals With PTEN Mutations (RAD001XUS257T) Recruiting NCT02991807 Phase 1, Phase 2 RAD001;Placebo
7 Open Label Phase II Study of Everolimus (RAD001) in Patients With Segmental Overgrowth Syndrome Withdrawn NCT02569125 Phase 2 Everolimus
8 A Phase I/II, Multi-center, Open-label Study of BEZ235, Administered Orally on a Continuous Daily Dosing Schedule in Adult Patients With Advanced Solid Malignancies Including Patients With Advanced Breast Cancer Completed NCT00620594 Phase 1 BEZ235
9 Photodynamic Therapy and Vismodegib for Multiple Basal Cell Carcinomas Completed NCT02639117 Phase 1 Vismodegib
10 The Evaluation of Oral Acitretin in the Treatment of Psoriasis, Cutaneous Disorders of Keratinization, Multiple Basal Cell Carcinomas and Other Retinoid Responsive Diseases Completed NCT00005660
11 Access to Resources for Patients With PTEN Hamartoma Tumor Syndrome Recruiting NCT03680924
12 French Digestive Polyposis Cohorte Recruiting NCT01987518
13 Liquid Biopsy Evaluation and Repository Development at Princess Margaret Recruiting NCT03702309
14 Familial Investigations of Childhood Cancer Predisposition Recruiting NCT03050268
15 Evaluating Cardiorespiratory Development in Premature Babies Recruiting NCT03655639
16 Natural History Study of Individuals With Autism and Germline Heterozygous PTEN Mutations Active, not recruiting NCT02461446
17 Registering the Immune Response to a Flu Vaccination Challenge in PTEN Hamartoma Tumour Syndrome Not yet recruiting NCT03630523
18 Network-based Epigenome-Wide associaTion Study in Obesity precisioN Medicine: NEWTON Clinical Trial Not yet recruiting NCT03903757

Search NIH Clinical Center for Cowden Syndrome 1

Cochrane evidence based reviews: hamartoma syndrome, multiple

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
5 Lhermitte-Duclos Disease 29
6 Lhermitte-Duclos Syndrome 29

Anatomical Context for Cowden Syndrome 1

MalaCards organs/tissues related to Cowden Syndrome 1:

41
Thyroid, Breast, Skin, Colon, Cerebellum, Cortex, Brain

Publications for Cowden Syndrome 1

Articles related to Cowden Syndrome 1:

(show top 50) (show all 365)
# Title Authors PMID Year
1
Male breast cancer in Cowden syndrome patients with germline PTEN mutations. 9 4 8 71
11238682 2001
2
Germline mutations and variants in the succinate dehydrogenase genes in Cowden and Cowden-like syndromes. 4 8 71
18678321 2008
3
Segmental overgrowth, lipomatosis, arteriovenous malformation and epidermal nevus (SOLAMEN) syndrome is related to mosaic PTEN nullizygosity. 4 8 71
17392703 2007
4
Germline mutation of the tumour suppressor PTEN in Proteus syndrome. 4 8 71
12471211 2002
5
Germline and germline mosaic PTEN mutations associated with a Proteus-like syndrome of hemihypertrophy, lower limb asymmetry, arteriovenous malformations and lipomatosis. 4 8 71
10749983 2000
6
Localization of the gene for Cowden disease to chromosome 10q22-23. 4 8 71
8673088 1996
7
Protean PTEN: form and function. 38 8 71
11875759 2002
8
Phenotypic findings of Cowden syndrome and Bannayan-Zonana syndrome in a family associated with a single germline mutation in PTEN. 9 8 71
10353779 1999
9
Variant manifestation of Cowden disease in Japan: hamartomatous polyposis of the digestive tract with mutation of the PTEN gene. 9 8 71
9915974 1999
10
Mutations of PTEN in patients with Bannayan-Riley-Ruvalcaba phenotype. 9 8 71
9832032 1998
11
Germline mutations in PTEN are present in Bannayan-Zonana syndrome. 9 8 71
9241266 1997
12
Germline mutations in the PTEN/MMAC1 gene in patients with Cowden disease. 9 8 71
9259288 1997
13
Germline mutations of the PTEN gene in Cowden disease, an inherited breast and thyroid cancer syndrome. 9 8 71
9140396 1997
14
A clinical scoring system for selection of patients for PTEN mutation testing is proposed on the basis of a prospective study of 3042 probands. 38 4 8
21194675 2011
15
Epidermal naevus in Proteus syndrome showing loss of heterozygosity for an inherited PTEN mutation. 9 4 8
16704655 2006
16
Proteus syndrome: misdiagnosis with PTEN mutations. 8 71
14518070 2003
17
Novel PTEN mutations in patients with Cowden disease: absence of clear genotype-phenotype correlations. 9 4 8
10234502 1999
18
Germline PTEN mutations in Cowden syndrome-like families. 8 71
9832031 1998
19
Mutation spectrum and genotype-phenotype analyses in Cowden disease and Bannayan-Zonana syndrome, two hamartoma syndromes with germline PTEN mutation. 9 4 71
9467011 1998
20
PTEN germ-line mutations in juvenile polyposis coli. 8 71
9425889 1998
21
Germline PIK3CA and AKT1 mutations in Cowden and Cowden-like syndromes. 4 8
23246288 2013
22
Increasing knowledge of PTEN germline mutations: Two additional patients with autism and macrocephaly. 4 71
17286265 2007
23
Distinct expression profiles for PTEN transcript and its splice variants in Cowden syndrome and Bannayan-Riley-Ruvalcaba syndrome. 9 38 8
16773562 2006
24
PTEN: one gene, many syndromes. 4 71
12938083 2003
25
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. 4 71
12844284 2003
26
Association of germline mutation in the PTEN tumour suppressor gene and Proteus and Proteus-like syndromes. 4 8
11476841 2001
27
PTEN coordinates G(1) arrest by down-regulating cyclin D1 via its protein phosphatase activity and up-regulating p27 via its lipid phosphatase activity in a breast cancer model. 4 71
11230179 2001
28
PTEN mutation spectrum and genotype-phenotype correlations in Bannayan-Riley-Ruvalcaba syndrome suggest a single entity with Cowden syndrome. 4 8
10400993 1999
29
Bannayan-Riley-Ruvalcaba syndrome. 4 8
1336932 1992
30
Genetic/familial high-risk assessment: breast and ovarian, version 1.2014. 38 71
25190698 2014
31
Estimate of de novo mutation frequency in probands with PTEN hamartoma tumor syndrome. 38 8
22595938 2012
32
Cowden syndrome-affected patients with PTEN promoter mutations demonstrate abnormal protein translation. 9 71
17847000 2007
33
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. 9 8
17526800 2007
34
The spectrum of vascular anomalies in patients with PTEN mutations: implications for diagnosis and management. 9 8
17526801 2007
35
Differential expression of novel naturally occurring splice variants of PTEN and their functional consequences in Cowden syndrome and sporadic breast cancer. 9 8
16436456 2006
36
PTEN Hamartoma Tumor Syndrome 38 71
20301661 2001
37
Regulation of G1 progression by the PTEN tumor suppressor protein is linked to inhibition of the phosphatidylinositol 3-kinase/Akt pathway. 9 71
10051603 1999
38
Severe Lhermitte-Duclos disease with unique germline mutation of PTEN. 9 71
10051160 1999
39
Germline PTEN mutation in a family with Cowden syndrome and Bannayan-Riley-Ruvalcaba syndrome. 9 71
9856571 1998
40
Absence of PTEN/MMAC1 germ-line mutations in sporadic Bannayan-Riley-Ruvalcaba syndrome. 9 8
9661881 1998
41
Deletion 10q23.2-q23.33 in a patient with gastrointestinal juvenile polyposis and other features of a Cowden-like syndrome. 9 8
9491322 1998
42
Inherited mutations in PTEN that are associated with breast cancer, cowden disease, and juvenile polyposis. 9 8
9399897 1997
43
Deletion of PTEN in a patient with Bannayan-Riley-Ruvalcaba syndrome suggests allelism with Cowden disease. 9 8
9286463 1997
44
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. 71
27854360 2017
45
Phosphatase and tensin homolog (PTEN) mutation can cause activated phosphatidylinositol 3-kinase δ syndrome-like immunodeficiency. 71
27426521 2016
46
Increased PI3K/Akt activity and deregulated humoral immune response in human PTEN deficiency. 8
27531073 2016
47
Cowden's syndrome with immunodeficiency. 8
26246517 2015
48
ACG clinical guideline: Genetic testing and management of hereditary gastrointestinal cancer syndromes. 71
25645574 2015
49
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. 71
25394175 2015
50
ACMG policy statement: updated recommendations regarding analysis and reporting of secondary findings in clinical genome-scale sequencing. 71
25356965 2015

Variations for Cowden Syndrome 1

ClinVar genetic disease variations for Cowden Syndrome 1:

6 (show top 50) (show all 730)
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 PTEN NM_000314.7(PTEN): c.1027-1G> A single nucleotide variant Pathogenic rs1057517809 10:89725043-89725043 10:87965286-87965286
2 PTEN NM_000314.7(PTEN): c.320A> T (p.Asp107Val) single nucleotide variant Pathogenic rs786204858 10:89692836-89692836 10:87933079-87933079
3 PTEN NM_000314.7(PTEN): c.388C> G (p.Arg130Gly) single nucleotide variant Pathogenic rs121909224 10:89692904-89692904 10:87933147-87933147
4 PTEN NM_000314.7(PTEN): c.445C> T (p.Gln149Ter) single nucleotide variant Pathogenic rs1060500122 10:89692961-89692961 10:87933204-87933204
5 PTEN NC_000010.10: g.(?_89653782)_(89653866_?)del deletion Pathogenic 10:89653782-89653866 10:87894025-87894109
6 PTEN NM_000314.7(PTEN): c.200dup (p.Tyr68fs) duplication Pathogenic rs1060500113 10:89685305-89685305 10:87925548-87925548
7 PTEN NM_000314.7(PTEN): c.945T> G (p.Tyr315Ter) single nucleotide variant Pathogenic rs876661058 10:89720794-89720794 10:87961037-87961037
8 PTEN NM_000314.7(PTEN): c.723dup (p.Glu242Ter) duplication Pathogenic rs1060500115 10:89717698-89717698 10:87957941-87957941
9 PTEN NM_000314.7(PTEN): c.176C> G (p.Ser59Ter) single nucleotide variant Pathogenic rs1060500116 10:89685281-89685281 10:87925524-87925524
10 PTEN NM_000314.7(PTEN): c.346_358dup (p.Ala120fs) duplication Pathogenic rs1064792910 10:89692862-89692874 10:87933105-87933117
11 PTEN NM_000314.7(PTEN): c.675T> G (p.Tyr225Ter) single nucleotide variant Pathogenic rs1057520900 10:89717650-89717650 10:87957893-87957893
12 PTEN NM_000314.7(PTEN): c.744_745TG[3] (p.Cys250fs) short repeat Pathogenic rs780264945 10:89717725-89717726 10:87957968-87957969
13 PTEN NM_000314.7(PTEN): c.629del (p.Thr210fs) deletion Pathogenic rs1060500114 10:89712011-89712011 10:87952254-87952254
14 PTEN NM_000314.7(PTEN): c.35A> C (p.Asn12Thr) single nucleotide variant Pathogenic rs1085308044 10:89624261-89624261 10:87864504-87864504
15 PTEN NM_000314.7(PTEN): c.40A> G (p.Arg14Gly) single nucleotide variant Pathogenic rs1085308047 10:89624266-89624266 10:87864509-87864509
16 PTEN NM_000314.7(PTEN): c.131G> A (p.Gly44Asp) single nucleotide variant Pathogenic rs1085308042 10:89653833-89653833 10:87894076-87894076
17 PTEN NM_000314.7(PTEN): c.164+1G> C single nucleotide variant Pathogenic rs1554893835 10:89653867-89653867 10:87894110-87894110
18 PTEN NM_000314.7(PTEN): c.165-2A> G single nucleotide variant Pathogenic rs1085308043 10:89685268-89685268 10:87925511-87925511
19 PTEN NM_000314.7(PTEN): c.253+1G> C single nucleotide variant Pathogenic rs587776667 10:89690847-89690847 10:87931090-87931090
20 PTEN NM_000314.7(PTEN): c.316G> T (p.Glu106Ter) single nucleotide variant Pathogenic rs1085308039 10:89692832-89692832 10:87933075-87933075
21 PTEN NM_000314.7(PTEN): c.369C> G (p.His123Gln) single nucleotide variant Pathogenic rs1085308045 10:89692885-89692885 10:87933128-87933128
22 PTEN NM_000314.7(PTEN): c.401T> C (p.Met134Thr) single nucleotide variant Pathogenic rs1085308046 10:89692917-89692917 10:87933160-87933160
23 PTEN NM_000314.7(PTEN): c.416T> G (p.Leu139Ter) single nucleotide variant Pathogenic rs1085308048 10:89692932-89692932 10:87933175-87933175
24 PTEN NM_000314.7(PTEN): c.420dup (p.His141fs) duplication Pathogenic rs1085308050 10:89692936-89692936 10:87933179-87933179
25 PTEN NM_000314.7(PTEN): c.520dup (p.Tyr174fs) duplication Pathogenic rs1085308052 10:89711902-89711902 10:87952145-87952145
26 PTEN NM_000314.7(PTEN): c.605C> T (p.Thr202Ile) single nucleotide variant Pathogenic rs1085308053 10:89711987-89711987 10:87952230-87952230
27 PTEN NM_000314.7(PTEN): c.607_608del (p.Ile203fs) deletion Pathogenic rs1085308054 10:89711989-89711990 10:87952232-87952233
28 PTEN NM_000314.7(PTEN): c.617_621del (p.Phe206fs) deletion Pathogenic rs1085308055 10:89711999-89712003 10:87952242-87952246
29 PTEN NM_000314.7(PTEN): c.635-1G> A single nucleotide variant Pathogenic rs876661024 10:89717609-89717609 10:87957852-87957852
30 PTEN NM_000314.7(PTEN): c.667A> T (p.Lys223Ter) single nucleotide variant Pathogenic rs1085308049 10:89717642-89717642 10:87957885-87957885
31 PTEN NM_000314.7(PTEN): c.821G> T (p.Trp274Leu) single nucleotide variant Pathogenic rs786204875 10:89720670-89720670 10:87960913-87960913
32 PTEN NM_000314.7(PTEN): c.1004G> A (p.Arg335Gln) single nucleotide variant Pathogenic rs1085308040 10:89720853-89720853 10:87961096-87961096
33 PTEN duplication Pathogenic 10:89589557-89642550 :0-0
34 PTEN NM_000314.7(PTEN): c.165-1G> C single nucleotide variant Pathogenic rs786203847 10:89685269-89685269 10:87925512-87925512
35 PTEN NM_000314.7(PTEN): c.209+5G> A single nucleotide variant Pathogenic rs1114167650 10:89685319-89685319 10:87925562-87925562
36 PTEN NM_000314.6(PTEN): c.210-4_210-1delTTAG deletion Pathogenic rs1554897854 10:89690799-89690802 10:87931042-87931045
37 PTEN NM_000314.7(PTEN): c.210-1G> A single nucleotide variant Pathogenic rs1114167621 10:89690802-89690802 10:87931045-87931045
38 PTEN NM_000314.7(PTEN): c.253+5G> T single nucleotide variant Pathogenic rs1554897889 10:89690851-89690851 10:87931094-87931094
39 PTEN NM_000314.7(PTEN): c.492+1G> T single nucleotide variant Pathogenic rs1554898242 10:89693009-89693009 10:87933252-87933252
40 PTEN NM_000314.7(PTEN): c.634+1G> C single nucleotide variant Pathogenic rs1114167622 10:89712017-89712017 10:87952260-87952260
41 PTEN NM_000314.7(PTEN): c.634+2T> C single nucleotide variant Pathogenic rs727504114 10:89712018-89712018 10:87952261-87952261
42 PTEN NM_000314.7(PTEN): c.634+4A> T single nucleotide variant Pathogenic rs1554900675 10:89712020-89712020 10:87952263-87952263
43 PTEN NM_000314.7(PTEN): c.328C> T (p.Gln110Ter) single nucleotide variant Pathogenic rs1114167629 10:89692844-89692844 10:87933087-87933087
44 PTEN NM_000314.7(PTEN): c.1027-2A> C single nucleotide variant Pathogenic rs1085308041 10:89725042-89725042 10:87965285-87965285
45 PTEN NM_000314.7(PTEN): c.512dup (p.Arg172fs) duplication Pathogenic rs1114167632 10:89711894-89711894 10:87952137-87952137
46 PTEN NM_000314.7(PTEN): c.959del (p.Thr319_Leu320insTer) deletion Pathogenic rs1114167682 10:89720808-89720808 10:87961051-87961051
47 PTEN NM_000314.7(PTEN): c.1016del (p.Pro339fs) deletion Pathogenic rs1554825643 10:89720865-89720865 10:87961108-87961108
48 PTEN NC_000010.10: g.(?_89690797)_(89693014_?)del deletion Pathogenic 10:89690797-89693014 10:87931040-87933257
49 PTEN deletion Pathogenic
50 PTEN NM_000314.7(PTEN): c.204C> G (p.Tyr68Ter) single nucleotide variant Pathogenic rs773176120 10:89685309-89685309 10:87925552-87925552

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

74 (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 rs155482565
31 PTEN p.Lys342Asn VAR_026277 rs398123314

Cosmic variations for Cowden Syndrome 1:

9 (show top 50) (show all 121)
# 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 9
2 COSM10863 TP53 skin,chest,carcinoma,NS c.833C>T p.P278L 17:7673787-7673787 9
3 COSM10648 TP53 skin,penis,carcinoma,NS c.524G>A p.R175H 17:7675088-7675088 9
4 COSM43544 TP53 skin,chest,carcinoma,NS c.260C>A p.P87Q 17:7676109-7676109 9
5 COSM10654 TP53 skin,chest,carcinoma,NS c.637C>T p.R213* 17:7674894-7674894 9
6 COSM45304 TP53 skin,chest,carcinoma,NS c.375+1G>A p.? 17:7675993-7675993 9
7 COSM10722 TP53 skin,chest,carcinoma,NS c.853G>A p.E285K 17:7673767-7673767 9
8 COSM10939 TP53 skin,chest,carcinoma,NS c.832C>T p.P278S 17:7673788-7673788 9
9 COSM6932 TP53 skin,chest,carcinoma,NS c.733G>A p.G245S 17:7674230-7674230 9
10 COSM10656 TP53 skin,chest,carcinoma,NS c.742C>T p.R248W 17:7674221-7674221 9
11 COSM43606 TP53 skin,chest,carcinoma,NS c.734G>A p.G245D 17:7674229-7674229 9
12 COSM17475 PTCH1 skin,chest,carcinoma,NS c.1292T>A p.L431Q 9:95478110-95478110 9
13 COSM17474 PTCH1 skin,chest,carcinoma,NS c.2062C>T p.Q688* 9:95468939-95468939 9
14 COSM17472 PTCH1 skin,chest,carcinoma,NS c.1249C>T p.Q417* 9:95478153-95478153 9
15 COSM17459 PTCH1 skin,chest,carcinoma,NS c.2042C>T p.P681L 9:95468959-95468959 9
16 COSM17476 PTCH1 skin,chest,carcinoma,NS c.707G>A p.W236* 9:95481988-95481988 9
17 COSM17477 PTCH1 skin,chest,carcinoma,NS c.3487G>A p.G1163S 9:95449903-95449903 9
18 COSM748 PIK3CA skin,penis,carcinoma,NS c.317G>T p.G106V 3:179199142-179199142 9
19 COSM564 NRAS skin,chest,carcinoma,NS c.35G>A p.G12D 1:114716126-114716126 9
20 COSM6903912 NRAS skin,chest,carcinoma,NS c.295C>T p.Q99* 1:114709724-114709724 9
21 COSM6903913 NRAS skin,chest,carcinoma,NS c.70A>T p.I24F 1:114716091-114716091 9
22 COSM5037396 NOTCH2 skin,chest,carcinoma,NS c.5104C>T p.R1702* 1:119922345-119922345 9
23 COSM1667036 NOTCH2 skin,chest,carcinoma,NS c.337C>T p.R113* 1:120005407-120005407 9
24 COSM6903898 NOTCH2 skin,chest,carcinoma,NS c.6761T>C p.M2254T 1:119915961-119915961 9
25 COSM6903847 NOTCH2 skin,chest,carcinoma,NS c.3194A>G p.N1065S 1:119938000-119938000 9
26 COSM6903816 NOTCH2 skin,chest,carcinoma,NS c.500C>T p.S167F 1:119997248-119997248 9
27 COSM6903845 NOTCH2 skin,chest,carcinoma,NS c.3008T>C p.V1003A 1:119940730-119940730 9
28 COSM6903822 NOTCH2 skin,chest,carcinoma,NS c.995G>T p.G332V 1:119969624-119969624 9
29 COSM5878530 NOTCH1 skin,chest,carcinoma,NS c.4070G>A p.C1357Y 9:136505826-136505826 9
30 COSM6903637 NOTCH1 skin,chest,carcinoma,NS c.3556G>A p.E1186K 9:136507392-136507392 9
31 COSM99613 NOTCH1 skin,chest,carcinoma,NS c.1348G>A p.E450K 9:136517845-136517845 9
32 COSM6903784 NOTCH1 skin,chest,carcinoma,NS c.6808C>T p.P2270S 9:136496931-136496931 9
33 COSM6903754 NOTCH1 skin,chest,carcinoma,NS c.5526G>T p.Q1842H 9:136501860-136501860 9
34 COSM6903729 NOTCH1 skin,chest,carcinoma,NS c.4772A>G p.H1591R 9:136504919-136504919 9
35 COSM6903647 NOTCH1 skin,chest,carcinoma,NS c.3716T>C p.F1239S 9:136506901-136506901 9
36 COSM327182 NOTCH1 skin,chest,carcinoma,NS c.5026G>A p.V1676I 9:136503323-136503323 9
37 COSM6903772 NOTCH1 skin,chest,carcinoma,NS c.6634G>A p.D2212N 9:136497105-136497105 9
38 COSM6728123 NOTCH1 skin,chest,carcinoma,NS c.1753G>A p.A585T 9:136515633-136515633 9
39 COSM6903786 NOTCH1 skin,chest,carcinoma,NS c.6832G>A p.V2278M 9:136496907-136496907 9
40 COSM6903645 NOTCH1 skin,chest,carcinoma,NS c.3709A>G p.K1237E 9:136506908-136506908 9
41 COSM6903663 NOTCH1 skin,chest,carcinoma,NS c.4093T>C p.S1365P 9:136505803-136505803 9
42 COSM35624 MYCN skin,penis,carcinoma,NS c.131C>T p.P44L 2:15942195-15942195 9
43 COSM4589941 HRAS skin,chest,carcinoma,NS c.10T>C p.Y4H 11:534313-534313 9
44 COSM6903481 HRAS skin,chest,carcinoma,NS c.95A>G p.Y32C 11:534228-534228 9
45 COSM489 HRAS skin,chest,carcinoma,NS c.38G>T p.G13V 11:534285-534285 9
46 COSM483 HRAS skin,chest,carcinoma,NS c.35G>T p.G12V 11:534288-534288 9
47 COSM6949581 DOT1L skin,penis,carcinoma,NS c.4292C>T p.A1431V 19:2226813-2226813 9
48 COSM12506 CDKN2A skin,chest,carcinoma,NS c.148C>T p.Q50* 9:21974680-21974680 9
49 COSM13224 CDKN2A skin,chest,carcinoma,NS c.242C>T p.P81L 9:21971117-21971117 9
50 COSM33765 AKT1 skin,NS,Overgrowth syndrome,Proteus syndrome c.49G>A p.E17K 14:104780214-104780214 9

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 49)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.73 TSC2 TSC1 STK11 SMAD4 PTEN EGFR
2
Show member pathways
13.68 TSC2 TSC1 STK11 SMAD4 PTEN EGFR
3
Show member pathways
12.86 TSC2 TSC1 STK11 PTEN BRCA1
4
Show member pathways
12.84 TSC2 TSC1 SMAD4 PTEN PIK3CA EGFR
5
Show member pathways
12.8 TSC2 TSC1 PTEN PIK3CA EGFR
6
Show member pathways
12.78 TSC2 TSC1 STK11 PTEN PIK3CA EGFR
7
Show member pathways
12.75 TSC2 SMAD4 PTEN PIK3CA EGFR BRCA2
8 12.71 SMAD4 PTEN PIK3CA EGFR BRCA2
9
Show member pathways
12.63 TSC2 PTEN PIK3CA EGFR
10
Show member pathways
12.6 SMAD4 PTEN PIK3CA EGFR BRCA2 BRCA1
11
Show member pathways
12.57 TSC2 PTEN PIK3CA EGFR
12
Show member pathways
12.44 TSC2 TSC1 PTEN PIK3CA
13 12.44 PTEN PIK3CA EGFR BRCA1
14
Show member pathways
12.35 TSC2 TSC1 STK11 PIK3CA
15
Show member pathways
12.33 TSC2 TSC1 STK11 PIK3CA
16
Show member pathways
12.31 TSC2 TSC1 PIK3CA EGFR
17
Show member pathways
12.3 TSC2 TSC1 PTEN PIK3CA
18
Show member pathways
12.11 TSC2 TSC1 STK11
19
Show member pathways
12.1 TSC2 TSC1 STK11 PTEN PIK3CA EGFR
20
Show member pathways
12.1 TSC2 TSC1 PTEN PIK3CA EGFR BRCA2
21 12.09 TSC2 TSC1 PTEN PIK3CA
22
Show member pathways
12.09 TSC2 TSC1 PTEN PIK3CA EGFR
23
Show member pathways
12.06 TSC2 TSC1 STK11 PIK3CA
24
Show member pathways
12.04 PTEN PIK3CA EGFR
25
Show member pathways
12.02 TSC2 PTEN PIK3CA EGFR
26 12 SMAD4 PIK3CA BMPR1A
27 11.99 TSC2 TSC1 PTEN PIK3CA EGFR
28
Show member pathways
11.98 SMAD4 PIK3CA EGFR BRCA1
29 11.97 TSC2 PTEN EGFR
30 11.9 SMAD4 PTEN PIK3CA
31 11.88 TSC2 TSC1 PTEN EGFR
32
Show member pathways
11.86 STK11 SMAD4 PTEN PIK3CA EGFR
33 11.79 TSC2 TSC1 STK11 PTEN PIK3CA
34 11.76 TSC2 TSC1 PTEN PIK3CA
35 11.75 TSC2 TSC1 PTEN
36 11.74 SMAD4 PTEN EGFR BRCA1
37 11.62 PTEN PIK3CA EGFR
38 11.61 PTEN PIK3CA BRCA1
39 11.56 TSC2 SMAD4 BRCA1
40
Show member pathways
11.54 SMAD4 PIK3CA EGFR
41 11.46 TSC2 TSC1 STK11 SMAD4 PTEN EGFR
42 11.29 TSC2 TSC1 STK11 SMAD4
43 11.2 TSC2 PTEN PIK3CA
44 11.18 SMAD4 EGFR
45 11.13 PIK3CA EGFR
46 11.09 PIK3CA EGFR
47 11.04 SMAD4 PTEN
48 11.03 SMAD4 BMPR1A
49 10.96 PIK3CA EGFR

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 cytoplasm GO:0005737 9.85 TSC2 TSC1 STK11 SMAD4 PTEN PIK3CA
2 lateral element GO:0000800 8.96 BRCA2 BRCA1
3 TSC1-TSC2 complex GO:0033596 8.62 TSC2 TSC1

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

(show all 25)
# Name GO ID Score Top Affiliating Genes
1 cell proliferation GO:0008283 9.83 SMAD4 PTEN EGFR BRCA2
2 cell cycle GO:0007049 9.8 STK11 KLLN CDKN3 BRCA2 BRCA1
3 positive regulation of transcription, DNA-templated GO:0045893 9.77 SMAD4 EGFR BRCA2 BRCA1 BMPR1A
4 regulation of cell proliferation GO:0042127 9.76 SMAD4 EGFR BRCA1
5 regulation of cell cycle GO:0051726 9.74 TSC2 TSC1 PTEN
6 cell cycle arrest GO:0007050 9.73 STK11 KLLN CDKN3
7 ERBB2 signaling pathway GO:0038128 9.62 PIK3CA EGFR
8 endoderm development GO:0007492 9.62 SMAD4 BMPR1A
9 positive regulation of transforming growth factor beta receptor signaling pathway GO:0030511 9.61 STK11 SMAD4
10 developmental growth GO:0048589 9.61 SMAD4 BMPR1A
11 outflow tract septum morphogenesis GO:0003148 9.6 SMAD4 BMPR1A
12 vasculature development GO:0001944 9.59 STK11 PIK3CA
13 female gonad development GO:0008585 9.58 SMAD4 BRCA2
14 positive regulation of histone H3-K4 methylation GO:0051571 9.55 SMAD4 BRCA1
15 negative regulation of phosphatidylinositol 3-kinase signaling GO:0014067 9.54 TSC2 PTEN
16 negative regulation of macroautophagy GO:0016242 9.51 TSC1 PIK3CA
17 DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator GO:0006978 9.49 BRCA2 BRCA1
18 response to estradiol GO:0032355 9.48 PTEN EGFR
19 positive regulation of SMAD protein signal transduction GO:0060391 9.46 SMAD4 BMPR1A
20 negative regulation of cell size GO:0045792 9.43 TSC1 PTEN
21 negative regulation of cell proliferation GO:0008285 9.43 TSC2 TSC1 STK11 SMAD4 PTEN CDKN3
22 protein kinase B signaling GO:0043491 9.33 TSC2 PTEN PIK3CA
23 positive regulation of histone H3-K9 acetylation GO:2000617 9.32 SMAD4 BRCA1
24 chordate embryonic development GO:0043009 9.26 BRCA2 BRCA1
25 anoikis GO:0043276 8.8 TSC2 STK11 PIK3CA

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 9.35 SMAD4 PTEN EGFR BRCA2 BRCA1
2 protein kinase activator activity GO:0030295 8.62 STK11 PIK3CA

Sources for Cowden Syndrome 1

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 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
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51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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