CWS1
MCID: CWD006
MIFTS: 79

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 72 29 13 6
Bannayan-Riley-Ruvalcaba Syndrome 57 12 20 43 58 72 29 6 15 39 70
Pten Hamartoma Tumor Syndrome 57 12 25 20 58 72 36 29 6 15 70
Bannayan-Zonana Syndrome 57 12 73 20 43 72 54
Riley-Smith Syndrome 57 12 20 43 72
Phts 57 25 20 58 72
Ruvalcaba-Myhre-Smith Syndrome 57 12 43 72
Bzs 57 20 43 72
Multiple Hamartoma Syndrome 57 72 6
Lhermitte-Duclos Disease 58 72 70
Rmss 57 20 72
Brrs 20 43 58
Pten Hamartoma Tumor Syndrome with Granular Cell Tumor 57 29
Macrocephaly Multiple Lipomas and Hemangiomata 20 72
Dysplastic Gangliocytoma of the Cerebellum 58 72
Bannayan-Ruvalcaba-Riley Syndrome 43 72
Cerebelloparenchymal Disorder Vi 72 70
Hamartoma Syndrome, Multiple 44 70
Myhre-Riley-Smith Syndrome 43 58
Lhermitte-Duclos Syndrome 57 29
Cws1 57 72
Mham 57 72
Ldd 58 72
Cs 57 72
Cd 57 72
Macrocephaly, Pseudopapilledema, and Multiple Hemangiomata 57
Macrocephaly Pseudopapilledema and Multiple Hemangiomata 72
Macrocephaly Pseudopapilledema and Multiple Hemangiomas 20
Cerebellar Granule Cell Hypertrophy and Megalencephaly 72
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 20
Pten Hamartoma Tumor Syndromes 6
Bannayan-Zonana Syndrome; Bzs 57
Ruvalcaba-Myhre Syndrome 43
Proteus-Like Syndrome 58
Cowden Disease 72
Cs; Cd 57
Bbrs 57
Cpd6 72

Characteristics:

Orphanet epidemiological data:

58
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 (Updated 05-Apr-2021)
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:

31
cowden syndrome 1:
Inheritance autosomal dominant inheritance
Onset and clinical course juvenile onset adult onset


GeneReviews:

25
Penetrance More than 90% of individuals with cs have some clinical manifestation of the disorder by the late 20s [nelen et al 1996, eng 2000, yehia et al 2020]. by the fourth 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, cowden syndrome for the age at which specific manifestations are likely to become evident.)

Classifications:

Orphanet: 58  
Rare neurological diseases
Rare eye diseases
Rare circulatory system diseases
Rare gastroenterological diseases
Rare skin diseases
Developmental anomalies during embryogenesis


External Ids:

Disease Ontology 12 DOID:0050657 DOID:0080191
OMIM® 57 158350
OMIM Phenotypic Series 57 PS158350
KEGG 36 H00539
MeSH 44 D006223
NCIt 50 C3939
ICD10 32 Q87.89
ICD10 via Orphanet 33 Q04.8 Q87.3 Q87.8
UMLS via Orphanet 71 C0265326 C0391826 C1266181 more
UMLS 70 C0018553 C0265326 C0391826 more

Summaries for Cowden Syndrome 1

MedlinePlus Genetics : 43 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, and seizures. Some affected individuals have thyroid problems, such as an enlargement of the thyroid gland, known as multinodular goiter, or a condition called Hashimoto thyroiditis. 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.

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

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.

GARD : 20 Bannayan-Riley-Ruvalcaba syndrome (BRRS) is a genetic condition that leads to the growth of both non-cancerous and cancerous tumors. Symptoms of BRRS may include large head size, increased birth weight, developmental delay, and intellectual disability. Other symptoms include the appearance of non-cancerous tumors in the digestive system, fatty tumors under the skin, and freckles on the penis. People with BRRS have an increased risk of developing breast, thyroid, and uterine cancer. This condition is part of a group of conditions known as the PTEN hamartoma tumor syndromes, which all share similar features and are caused by genetic changes ( DNA variants ) in the PTEN gene. BRRS is inherited in an autosomal dominant pattern. Diagnosis is based on clinical exam, the symptoms, and genetic testing. Treatment is aimed at managing the symptoms and careful monitoring for signs of cancer.

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) (Updated 05-Apr-2021)

KEGG : 36 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 : 72 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 : 73 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 348)
# Related Disease Score Top Affiliating Genes
1 rhabdomyosarcoma 32.3 SMAD4 PTEN PIK3CA MTOR EGFR AKT1
2 juvenile polyposis syndrome 32.2 STK11 SMAD4 PTEN MUTYH BMPR1A
3 cowden syndrome 31.8 USF3 TSC2 TNS1 STK11 SMAD4 SDHD
4 congenital heart defects, hamartomas of tongue, and polysyndactyly 31.8 TSC2 STK11 PTEN
5 proteus syndrome 31.7 TSC2 TNS1 PTEN PIK3R2 PIK3CA NEDD4
6 ruvalcaba syndrome 31.5 PTEN BMPR1A
7 medulloblastoma 31.3 TSC2 PTEN PIK3CA MTOR EGFR AKT1
8 juvenile polyposis of infancy 31.2 PTEN BMPR1A
9 lipomatosis 31.2 SDHB PTEN PIK3CA
10 skin lipoma 31.2 TNS1 PTEN
11 hemimegalencephaly 31.1 PTEN PIK3CA MTOR
12 megalencephaly 31.1 PIK3R2 PIK3CA MTOR
13 adenoma 31.0 SMAD4 PIK3CA MUTYH AKT1
14 chromosome 10q23 deletion syndrome 31.0 PTEN BMPR1A
15 tuberous sclerosis 2 31.0 TSC2 STK11 PTEN MTOR AKT1
16 peripheral nervous system disease 31.0 SDHD PTEN MTOR EGFR AKT1
17 tuberous sclerosis 1 30.9 TSC2 TNS1 STK11 PTEN MTOR AKT1
18 carney complex variant 30.9 STK11 SDHD SDHB
19 vacterl association with hydrocephalus 30.9 PTEN KLLN
20 benign ependymoma 30.8 TSC2 PTEN MTOR AKT1
21 pilocytic astrocytoma 30.8 PTEN PIK3CA MTOR AKT1
22 peutz-jeghers syndrome 30.8 TSC2 STK11 SMAD4 PTEN EGFR
23 thyroid gland follicular carcinoma 30.7 PTEN PIK3CA EGFR AKT1
24 tuberous sclerosis 30.7 TSC2 STK11 PTEN PIK3CA MTOR AKT1
25 renal cell carcinoma, papillary, 1 30.7 SDHB PTEN PIK3CA MTOR EGFR
26 hemangioma 30.7 TSC2 PTEN MTOR AKT1
27 thyroid gland cancer 30.6 SDHD SDHB PTEN PIK3CA EGFR AKT1
28 kidney cancer 30.5 TSC2 SDHB PTEN PIK3CA MTOR EGFR
29 meningioma, familial 30.4 PTEN PIK3CA KLLN EGFR AKT1
30 renal cell carcinoma, nonpapillary 30.2 TSC2 SDHB PTEN PIK3CA MTOR EGFR
31 skin carcinoma 30.2 STK11 PTEN PIK3CA MTOR EGFR AKT1
32 lynch syndrome 30.1 STK11 SMAD4 PTEN PIK3CA MUTYH EGFR
33 endometrial cancer 30.1 SMAD4 PTEN PIK3R2 PIK3CA MUTYH MTOR
34 intervertebral disc disease 11.0
35 gastric cancer 11.0
36 hydrocephalus 10.8
37 intestinal polyposis syndrome 10.7
38 obstructive hydrocephalus 10.5
39 thyroid hurthle cell adenoma 10.5 PTEN PIK3CA
40 ovarian clear cell adenofibroma 10.5 PTEN PIK3CA
41 neural crest tumor 10.5 SDHD SDHB
42 myopathy 10.5
43 vulvar disease 10.5 PTEN PIK3CA EGFR
44 sporadic pheochromocytoma/secreting paraganglioma 10.5 SDHD SDHB
45 combined hepatocellular carcinoma and cholangiocarcinoma 10.5 MTOR AKT1
46 uterine body mixed cancer 10.5 PTEN PIK3CA EGFR
47 plethora of newborn 10.5 SDHD SDHB
48 large intestine lipoma 10.5 PTEN MUTYH BMPR1A
49 large intestine adenocarcinoma 10.5 SMAD4 PTEN PIK3CA
50 glioma susceptibility 2 10.5 PTEN KLLN

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:

58 31 (show top 50) (show all 166)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 macrocephaly 58 31 hallmark (90%) Very frequent (99-80%),Frequent (79-30%),Very frequent (99-80%),Very frequent (99-80%) HP:0000256
2 short stature 58 31 hallmark (90%) Very frequent (99-80%) HP:0004322
3 arteriovenous malformation 58 31 hallmark (90%) Very frequent (99-80%) HP:0100026
4 nevus 58 31 hallmark (90%) Very frequent (99-80%) HP:0003764
5 irregular hyperpigmentation 58 31 hallmark (90%) Very frequent (99-80%),Very frequent (99-80%) HP:0007400
6 capillary hemangioma 58 31 hallmark (90%) Very frequent (99-80%) HP:0005306
7 visceral angiomatosis 58 31 hallmark (90%) Very frequent (99-80%) HP:0100761
8 plantar pits 58 31 hallmark (90%) Very frequent (99-80%) HP:0010612
9 hamartomatous polyposis 58 31 hallmark (90%) Very frequent (99-80%) HP:0004390
10 lipoma 58 31 hallmark (90%) Very frequent (99-80%),Very frequent (99-80%) HP:0012032
11 papilloma 58 31 hallmark (90%) Very frequent (99-80%) HP:0012740
12 intestinal polyposis 58 31 hallmark (90%) Very frequent (99-80%) HP:0200008
13 abnormal large intestine morphology 58 31 hallmark (90%) Very frequent (99-80%) HP:0002250
14 neoplasm of the breast 58 31 hallmark (90%) Very frequent (99-80%) HP:0100013
15 ganglioneuroma 58 31 hallmark (90%) Very frequent (99-80%) HP:0003005
16 multiple trichilemmomata 58 31 hallmark (90%) Very frequent (99-80%) HP:0012846
17 scoliosis 58 31 frequent (33%) Frequent (79-30%) HP:0002650
18 pectus excavatum 58 31 frequent (33%) Frequent (79-30%) HP:0000767
19 subcutaneous nodule 58 31 frequent (33%) Frequent (79-30%) HP:0001482
20 hemangioma 58 31 frequent (33%) Very frequent (99-80%),Frequent (79-30%) HP:0001028
21 freckling 58 31 frequent (33%) Frequent (79-30%) HP:0001480
22 subcutaneous hemorrhage 58 31 frequent (33%) Frequent (79-30%) HP:0001933
23 breast carcinoma 58 31 frequent (33%) Frequent (79-30%) HP:0003002
24 renal cell carcinoma 58 31 frequent (33%) Frequent (79-30%) HP:0005584
25 endometrial carcinoma 58 31 frequent (33%) Frequent (79-30%) HP:0012114
26 autistic behavior 58 31 frequent (33%) Frequent (79-30%) HP:0000729
27 thyroid carcinoma 58 31 occasional (7.5%) Occasional (29-5%),Frequent (79-30%) HP:0002890
28 hyperkeratotic papule 58 31 frequent (33%) Frequent (79-30%) HP:0045059
29 intellectual disability 58 31 occasional (7.5%) Occasional (29-5%),Very frequent (99-80%),Occasional (29-5%) HP:0001249
30 frontal bossing 58 31 occasional (7.5%) Occasional (29-5%) HP:0002007
31 neurological speech impairment 58 31 occasional (7.5%) Occasional (29-5%) HP:0002167
32 delayed skeletal maturation 58 31 occasional (7.5%) Occasional (29-5%) HP:0002750
33 narrow palate 58 31 occasional (7.5%) Occasional (29-5%) HP:0000189
34 macrotia 58 31 occasional (7.5%) Occasional (29-5%) HP:0000400
35 short nose 58 31 occasional (7.5%) Occasional (29-5%) HP:0003196
36 anteverted nares 58 31 occasional (7.5%) Occasional (29-5%),Occasional (29-5%) HP:0000463
37 broad thumb 58 31 occasional (7.5%) Occasional (29-5%) HP:0011304
38 myopathy 58 31 occasional (7.5%) Occasional (29-5%) HP:0003198
39 hypoglycemia 58 31 occasional (7.5%) Occasional (29-5%) HP:0001943
40 skeletal muscle atrophy 58 31 occasional (7.5%) Occasional (29-5%) HP:0003202
41 lymphedema 58 31 occasional (7.5%) Occasional (29-5%) HP:0001004
42 micrognathia 58 31 occasional (7.5%) Occasional (29-5%) HP:0000347
43 hashimoto thyroiditis 58 31 occasional (7.5%) Occasional (29-5%) HP:0000872
44 abnormal retinal vascular morphology 58 31 occasional (7.5%) Occasional (29-5%) HP:0008046
45 angina pectoris 58 31 occasional (7.5%) Occasional (29-5%) HP:0001681
46 dolichocephaly 58 31 occasional (7.5%) Occasional (29-5%),Occasional (29-5%) HP:0000268
47 cachexia 58 31 occasional (7.5%) Occasional (29-5%) HP:0004326
48 colon cancer 58 31 occasional (7.5%) Occasional (29-5%) HP:0003003
49 multiple cafe-au-lait spots 58 31 occasional (7.5%) Occasional (29-5%) HP:0007565
50 long philtrum 58 31 occasional (7.5%) Occasional (29-5%) HP:0000343

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Skeletal Spine:
scoliosis
kyphosis

Head And Neck Eyes:
cataract
myopia
angioid streaks

Abdomen Gastrointestinal:
colonic diverticula
hamartomatous polyps

Neurologic Central Nervous System:
intention tremor
seizure
lhermitte-duclos disease
mental retardation, mild to moderate (in 12%)
psychomotor delay, mild to moderate
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
Chest Ribs Sternum Clavicles And Scapulae:
pectus excavatum

Neoplasia:
meningioma
transitional cell carcinoma of the bladder
ovarian carcinoma
breast cancer
cervical carcinoma
more
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 (Updated 05-Apr-2021)

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 41)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased viability GR00055-A-1 10.67 PIK3CA EGFR MTOR
2 Decreased viability GR00055-A-2 10.67 PIK3CA EGFR MTOR
3 Decreased viability GR00173-A 10.67 PIK3R2
4 Decreased viability GR00221-A-1 10.67 AKT1 BMPR1A PIK3CA PIK3R2 SDHD EGFR
5 Decreased viability GR00221-A-2 10.67 AKT1 BMPR1A PIK3CA PIK3R2 SDHD
6 Decreased viability GR00221-A-3 10.67 AKT1 BMPR1A PIK3CD
7 Decreased viability GR00221-A-4 10.67 AKT1 BMPR1A PIK3CA PIK3R2 SDHD EGFR
8 Decreased viability GR00249-S 10.67 AKT1 BMPR1A PIK3R2 SDHD
9 Decreased viability GR00301-A 10.67 PIK3R2
10 Decreased viability GR00342-S-1 10.67 MTOR
11 Decreased viability GR00342-S-2 10.67 MTOR
12 Decreased viability GR00381-A-1 10.67 SDHD
13 Decreased viability GR00402-S-2 10.67 PIK3CA
14 Decreased shRNA abundance (Z-score < -2) GR00366-A-11 10.32 MTOR
15 Decreased shRNA abundance (Z-score < -2) GR00366-A-116 10.32 PIK3CA
16 Decreased shRNA abundance (Z-score < -2) GR00366-A-152 10.32 PTEN
17 Decreased shRNA abundance (Z-score < -2) GR00366-A-157 10.32 PIK3CA
18 Decreased shRNA abundance (Z-score < -2) GR00366-A-16 10.32 AKT1 MTOR PIK3CA
19 Decreased shRNA abundance (Z-score < -2) GR00366-A-166 10.32 PIK3CA
20 Decreased shRNA abundance (Z-score < -2) GR00366-A-173 10.32 MTOR
21 Decreased shRNA abundance (Z-score < -2) GR00366-A-177 10.32 AKT1 PIK3CA
22 Decreased shRNA abundance (Z-score < -2) GR00366-A-190 10.32 PIK3CA
23 Decreased shRNA abundance (Z-score < -2) GR00366-A-21 10.32 SMAD4
24 Decreased shRNA abundance (Z-score < -2) GR00366-A-216 10.32 PIK3CA
25 Decreased shRNA abundance (Z-score < -2) GR00366-A-42 10.32 AKT1 MTOR PIK3CA SMAD4
26 Decreased shRNA abundance (Z-score < -2) GR00366-A-46 10.32 SMAD4
27 Decreased shRNA abundance (Z-score < -2) GR00366-A-49 10.32 PIK3CA
28 Decreased shRNA abundance (Z-score < -2) GR00366-A-50 10.32 AKT1
29 Decreased shRNA abundance (Z-score < -2) GR00366-A-53 10.32 MTOR PIK3CA
30 Decreased shRNA abundance (Z-score < -2) GR00366-A-54 10.32 SMAD4
31 Decreased shRNA abundance (Z-score < -2) GR00366-A-73 10.32 MTOR SMAD4
32 Decreased shRNA abundance (Z-score < -2) GR00366-A-74 10.32 SMAD4
33 Decreased shRNA abundance (Z-score < -2) GR00366-A-79 10.32 AKT1
34 Decreased shRNA abundance (Z-score < -2) GR00366-A-81 10.32 SMAD4
35 Decreased cell migration GR00055-A-1 9.85 AKT1 PIK3R2 TNS1
36 Decreased cell migration GR00055-A-3 9.85 EGFR MTOR PIK3CA
37 Decreased cell viability after pRB stimulation GR00230-A-1 9.02 BMPR1A
38 Decreased viability with paclitaxel GR00179-A-1 9.02 EGFR MTOR
39 Decreased viability with paclitaxel GR00179-A-2 9.02 MTOR
40 Decreased viability with paclitaxel GR00179-A-3 9.02 EGFR MTOR
41 Decreased sensitivity to paclitaxel GR00112-A-0 8.96 PTEN

MGI Mouse Phenotypes related to Cowden Syndrome 1:

46 (show all 11)
# Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 10.32 AKT1 BMPR1A CENPC EGFR MTOR MUTYH
2 cardiovascular system MP:0005385 10.31 AKT1 BMPR1A EGFR MTOR PIK3CA PIK3CD
3 embryo MP:0005380 10.23 AKT1 BMPR1A CENPC EGFR MTOR PIK3CA
4 growth/size/body region MP:0005378 10.22 AKT1 BMPR1A CENPC EGFR MTOR PIK3CA
5 endocrine/exocrine gland MP:0005379 10.21 AKT1 BMPR1A EGFR MTOR PIK3CA PIK3CD
6 homeostasis/metabolism MP:0005376 10.21 AKT1 BMPR1A EGFR MTOR MUTYH PIK3CA
7 mortality/aging MP:0010768 10.17 AKT1 BMPR1A CENPC EGFR MTOR MUTYH
8 neoplasm MP:0002006 9.93 AKT1 BMPR1A EGFR MUTYH PIK3CA PIK3R2
9 muscle MP:0005369 9.91 AKT1 BMPR1A EGFR MTOR PIK3CA PIK3R2
10 normal MP:0002873 9.65 AKT1 BMPR1A EGFR MTOR PTEN SDHB
11 renal/urinary system MP:0005367 9.23 EGFR MTOR PTEN SDHB SMAD4 STK11

Drugs & Therapeutics for Cowden Syndrome 1

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

(show top 50) (show all 74)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Ethanol Approved Phase 4 64-17-5 702
2
Udenafil Approved, Investigational Phase 3 268203-93-6 6918523
3
Etoposide Approved Phase 3 33419-42-0 36462
4
Vincristine Approved, Investigational Phase 3 2068-78-2, 57-22-7 5978
5
Vinorelbine Approved, Investigational Phase 3 71486-22-1 60780 44424639
6
Gemcitabine Approved Phase 3 95058-81-4 60750
7
Prednisone Approved, Vet_approved Phase 3 53-03-2 5865
8
Oxaliplatin Approved, Investigational Phase 3 61825-94-3 5310940 9887054 43805 6857599
9
Mitoxantrone Approved, Investigational Phase 3 65271-80-9 4212
10
Cyclophosphamide Approved, Investigational Phase 3 50-18-0, 6055-19-2 2907
11
Ifosfamide Approved Phase 3 3778-73-2 3690
12 Phosphodiesterase 5 Inhibitors Phase 3
13 Phosphodiesterase Inhibitors Phase 3
14 Hormone Antagonists Phase 3
15 Hormones Phase 3
16 glucocorticoids Phase 3
17 Anti-Inflammatory Agents Phase 3
18 Tubulin Modulators Phase 3
19 Etoposide phosphate Phase 3
20 Alkylating Agents Phase 3
21 Antineoplastic Agents, Hormonal Phase 3
22 Antimitotic Agents Phase 3
23
Isophosphamide mustard Phase 3 100427
24 Immunoglobulins Phase 3
25 Antibodies, Monoclonal Phase 3
26 Antibodies Phase 3
27
Cytarabine Approved, Investigational Phase 2 147-94-4 6253
28
Prednisolone acetate Approved, Vet_approved Phase 2 52-21-1
29
Methylprednisolone Approved, Vet_approved Phase 2 83-43-2 6741
30
Cisplatin Approved Phase 2 15663-27-1 84093 441203 2767
31
Prednisolone Approved, Vet_approved Phase 2 50-24-8 5755
32
Prednisolone phosphate Approved, Vet_approved Phase 2 302-25-0
33
Methylprednisolone hemisuccinate Approved Phase 2 2921-57-5
34
Lenograstim Approved, Investigational Phase 2 135968-09-1
35
Pancrelipase Approved, Investigational Phase 2 53608-75-6
36
Clotrimazole Approved, Vet_approved Phase 2 23593-75-1 2812
37
Miconazole Approved, Investigational, Vet_approved Phase 2 22916-47-8 4189
38
Sirolimus Approved, Investigational Phase 2 53123-88-9 6436030 5284616
39
Everolimus Approved Phase 1, Phase 2 159351-69-6 6442177 70789204
40
Danazol Approved Phase 2 17230-88-5 28417
41
Prednisolone hemisuccinate Experimental Phase 2 2920-86-7
42 Methylprednisolone Acetate Phase 2
43 Neuroprotective Agents Phase 2
44 Protective Agents Phase 2
45 pancreatin Phase 2
46 BBR 3464 Phase 2
47 Fluorodeoxyglucose F18 Phase 2
48 Radiopharmaceuticals Phase 2
49 Antibiotics, Antitubercular Phase 2
50 Anti-Bacterial Agents Phase 2

Interventional clinical trials:

(show all 29)
# Name Status NCT ID Phase Drugs
1 Effect of Berberine Hydrochloride on Blood Pressure and Vascular Endothelial Function in Patients With Hypertension Recruiting NCT04790942 Phase 4 berberine hydrochloride
2 Udenafil Therapy to Improve Symptomatology, Exercise Tolerance and Hemodynamics in Patients With Mild Pulmonary Hypertension [ULTIMATE-Mild PHT] Unknown status NCT01696240 Phase 3 Placebo;Udenafil (Zydena)
3 Pixantrone (BBR 2778) Versus Other Chemotherapeutic Agents for Third-line Single Agent Treatment of Patients With Relapsed Aggressive Non-Hodgkin's Lymphoma: A Randomized, Controlled, Phase III Comparative Trial Completed NCT00088530 Phase 3 pixantrone, cyclophosphamide, vincristine, rituximab, prednisone;Vinorelbine, Oxalplatin, Ifosfasmide, Etoposide, Mitoxatrone, Gemcitabine or Rituximab
4 An Open-Label, Randomized, Phase III Comparative Trial of BBR 2778 + Rituximab Versus Rituximab in the Treatment of Patients With Relapsed or Refractory Indolent Non-Hodgkin's Lymphoma (NHL) Terminated NCT00060671 Phase 3 rituximab;Pixantrone (BBR 2778)
5 Fludarabine, BBR 2778 (Pixantrone) and Rituximab (FP-R) vs Fludarabine and Rituximab (F-R) for Relapsed or Refractory Indolent Non-Hodgkin's Lymphoma Withdrawn NCT00577161 Phase 3 fludarabine and rituximab;fludarabine, rituximab, pixantrone
6 A Randomized Phase III Trial Comparing the Combination of Fludarabine, BBR 2778 (Pixantrone) and Rituximab (FP-R) With the Combination of Fludarabine and Rituximab (F-R) in the Treatment of Patients With Relapsed or Refractory Indolent Non-Hodgkin's Lymphoma Withdrawn NCT00551239 Phase 3 fludarabine phosphate;pixantrone dimaleate
7 A Phase II Trial of BBR 2778 in Combination With Cytarabine, Methylprednisolone and Cisplatin (BSHAP) as Salvage in Patients With Relapsed Aggressive Non-Hodgkin's Lymphoma Unknown status NCT00069966 Phase 2 cisplatin;cytarabine;methylprednisolone;pixantrone dimaleate
8 A Phase II Trial of BBR 3464 as First Line Treatment in Patients With Inoperable, Locally Advanced or Metastatic Adenocarcinoma of the Pancreas Unknown status NCT00024362 Phase 2 BBR 3464
9 Phase II Study Of BBR 3464 As Treatment In Patients With Sensitive Or Refractory Small Cell Lung Cancer After One Prior Chemotherapy Regimen Unknown status NCT00014547 Phase 2 BBR 3464
10 A Randomised, Double-Blind, Repeat-Dose, Placebo-Controlled Phase IIa Proof of Concept Study to Investigate the Safety and Efficacy of Oral BBR-012 in Combination With Standard Medical Care in Diabetic Patients With Complicated Skin Ulceration on the Foot (Diabetic Foot Ulcer) Unknown status NCT01342497 Phase 2 isoniazide;placebo
11 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
12 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
13 A Phase I/II Study of Pixantrone (BBR 2778) in Patients With Refractory Acute Myelogenous Leukemia (AML) Completed NCT00106600 Phase 1, Phase 2 Pixantrone IV infusion
14 Sirolimus for Cowden Syndrome With Colon Polyposis Recruiting NCT04094675 Phase 2 Sirolimus
15 A Randomized Double-Blind Controlled Trial of Everolimus in Individuals With PTEN Mutations (RAD001XUS257T) Active, not recruiting NCT02991807 Phase 1, Phase 2 RAD001;Placebo
16 Combination of Danazole With Berberine in the Treatment of ITP Active, not recruiting NCT03909763 Phase 2 Berberine plus danazol
17 A Phase I Trial of BBR 2778 in Combination With Cytarabine, Methylprednisolone and Cisplatin in the Treatment of Patients With Relapsed or Refractory Aggressive Non-Hodgkin's Lymphoma Unknown status NCT00053105 Phase 1 cisplatin;cytarabine;methylprednisolone;pixantrone dimaleate
18 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
19 A Phase I Trial of BBR 2778 in Combination With Fludarabine, Dexamethasone and Rituximab in the Treatment of Patients With Relapsed or Refractory Indolent Non-Hodgkin's Lymphoma Completed NCT00060684 Phase 1 Pixantrone (BBR 2778);fludarabine;dexamethasone;rituximab
20 Registering the Immune Response to a Flu Vaccination Challenge in PTEN Hamartoma Tumour Syndrome Unknown status NCT03630523
21 Access to Resources for Patients With PTEN Hamartoma Tumor Syndrome Completed NCT03680924
22 Physiologic Pilot Study: Work of Breathing Description in Neonates With Congenital Diaphragmatic Hernia in Post-surgical Period Alternatively in Conventional Ventilation (Pressure Controlled) and in NAVA (Neurally Adjusted Ventilatory Assist) Ventilation. Completed NCT03250793
23 Familial Investigations of Childhood Cancer Predisposition Recruiting NCT03050268
24 Liquid Biopsy Evaluation and Repository Development at Princess Margaret Recruiting NCT03702309
25 Natural History Study of Individuals With Autism and Germline Heterozygous PTEN Mutations Recruiting NCT02461446
26 Effects of Photodynamic Therapy on the Human Inguinal Skin Microbiome to Improve Antiseptic Effect - a Pilot Study Recruiting NCT04067843
27 Biomarker Identification for Bladder Cancer Patients Active, not recruiting NCT02053662
28 Cardiopulmonary Exercise Test in Evaluation of Pulmonary Hypertension in COPD Patients Not yet recruiting NCT04035148
29 The Effects of Antiepileptic Drugs on Serum Lipids and Inflammation in Patients With Subarachnoid Hemorrhage Terminated NCT00774306 phenytoin;valproate;levetiracetam

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 Syndrome 29

Anatomical Context for Cowden Syndrome 1

MalaCards organs/tissues related to Cowden Syndrome 1:

40
Breast, Thyroid, Brain, Eye, Skin, Colon, Cerebellum

Publications for Cowden Syndrome 1

Articles related to Cowden Syndrome 1:

(show top 50) (show all 469)
# Title Authors PMID Year
1
Estimate of de novo mutation frequency in probands with PTEN hamartoma tumor syndrome. 61 6 57 25
22595938 2012
2
A clinical scoring system for selection of patients for PTEN mutation testing is proposed on the basis of a prospective study of 3042 probands. 6 57 25 61
21194675 2011
3
Segmental overgrowth, lipomatosis, arteriovenous malformation and epidermal nevus (SOLAMEN) syndrome is related to mosaic PTEN nullizygosity. 25 6 57
17392703 2007
4
Male breast cancer in Cowden syndrome patients with germline PTEN mutations. 57 6 25
11238682 2001
5
Germline and germline mosaic PTEN mutations associated with a Proteus-like syndrome of hemihypertrophy, lower limb asymmetry, arteriovenous malformations and lipomatosis. 25 57 6
10749983 2000
6
Novel PTEN mutations in patients with Cowden disease: absence of clear genotype-phenotype correlations. 57 25 6
10234502 1999
7
Localization of the gene for Cowden disease to chromosome 10q22-23. 6 57 25
8673088 1996
8
Distinct expression profiles for PTEN transcript and its splice variants in Cowden syndrome and Bannayan-Riley-Ruvalcaba syndrome. 61 6 57
16773562 2006
9
Protean PTEN: form and function. 61 6 57
11875759 2002
10
Phenotypic findings of Cowden syndrome and Bannayan-Zonana syndrome in a family associated with a single germline mutation in PTEN. 6 54 57
10353779 1999
11
Germline mutations in PTEN are present in Bannayan-Zonana syndrome. 54 57 6
9241266 1997
12
Increased PI3K/Akt activity and deregulated humoral immune response in human PTEN deficiency. 57 6
27531073 2016
13
Cowden's syndrome with immunodeficiency. 57 6
26246517 2015
14
Cognitive characteristics of PTEN hamartoma tumor syndromes. 6 57
23470840 2013
15
Elevated plasma succinate in PTEN, SDHB, and SDHD mutation-positive individuals. 6 57
22261759 2012
16
Lifetime cancer risks in individuals with germline PTEN mutations. 61 25 6
22252256 2012
17
Predicting PTEN mutations: an evaluation of Cowden syndrome and Bannayan-Riley-Ruvalcaba syndrome clinical features. 6 57
21659347 2011
18
The spectrum of vascular anomalies in patients with PTEN mutations: implications for diagnosis and management. 6 57
17526801 2007
19
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. 6 57
17526800 2007
20
Bannayan-Riley-Ruvalcaba syndrome with reactive nodular lymphoid hyperplasia and autism and a PTEN mutation. 57 6
16894538 2006
21
Epidermal naevus in Proteus syndrome showing loss of heterozygosity for an inherited PTEN mutation. 57 6
16704655 2006
22
Proteus syndrome: misdiagnosis with PTEN mutations. 6 57
14518070 2003
23
Germline mutation of the tumour suppressor PTEN in Proteus syndrome. 57 6
12471211 2002
24
Association of germline mutation in the PTEN tumour suppressor gene and Proteus and Proteus-like syndromes. 57 6
11476841 2001
25
PTEN mutation spectrum and genotype-phenotype correlations in Bannayan-Riley-Ruvalcaba syndrome suggest a single entity with Cowden syndrome. 6 57
10400993 1999
26
Variant manifestation of Cowden disease in Japan: hamartomatous polyposis of the digestive tract with mutation of the PTEN gene. 57 6
9915974 1999
27
Germline PTEN mutations in Cowden syndrome-like families. 6 57
9832031 1998
28
Mutations of PTEN in patients with Bannayan-Riley-Ruvalcaba phenotype. 6 57
9832032 1998
29
Mutation spectrum and genotype-phenotype analyses in Cowden disease and Bannayan-Zonana syndrome, two hamartoma syndromes with germline PTEN mutation. 54 25 6
9467011 1998
30
PTEN germ-line mutations in juvenile polyposis coli. 57 6
9425889 1998
31
Inherited mutations in PTEN that are associated with breast cancer, cowden disease, and juvenile polyposis. 57 6
9399897 1997
32
Germline mutations in the PTEN/MMAC1 gene in patients with Cowden disease. 57 6
9259288 1997
33
Germline mutations of the PTEN gene in Cowden disease, an inherited breast and thyroid cancer syndrome. 57 6
9140396 1997
34
Cowden syndrome and Lhermitte-Duclos disease in a family: a single genetic syndrome with pleiotropy? 57 6
8071972 1994
35
A retrospective chart review of the features of PTEN hamartoma tumour syndrome in children. 25 6
28526761 2017
36
Molecular and phenotypic abnormalities in individuals with germline heterozygous PTEN mutations and autism. 25 6
25288137 2015
37
Second malignant neoplasms in patients with Cowden syndrome with underlying germline PTEN mutations. 6 25
24778394 2014
38
Germline PIK3CA and AKT1 mutations in Cowden and Cowden-like syndromes. 25 57
23246288 2013
39
Incidence and clinical characteristics of thyroid cancer in prospective series of individuals with Cowden and Cowden-like syndrome characterized by germline PTEN, SDH, or KLLN alterations. 25 6
21956414 2011
40
Analysis of prevalence and degree of macrocephaly in patients with germline PTEN mutations and of brain weight in Pten knock-in murine model. 6 25
21343951 2011
41
Frequent gastrointestinal polyps and colorectal adenocarcinomas in a prospective series of PTEN mutation carriers. 25 6
20600018 2010
42
Germline mutations and variants in the succinate dehydrogenase genes in Cowden and Cowden-like syndromes. 25 57
18678321 2008
43
Subset of individuals with autism spectrum disorders and extreme macrocephaly associated with germline PTEN tumour suppressor gene mutations. 25 6
15805158 2005
44
Germline inactivation of PTEN and dysregulation of the phosphoinositol-3-kinase/Akt pathway cause human Lhermitte-Duclos disease in adults. 25 6
14566704 2003
45
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. 25 6
12844284 2003
46
Bannayan-Riley-Ruvalcaba syndrome. 57 25
1336932 1992
47
PTEN Mutation Identified in Patient Diagnosed with Simultaneous Multiple Cancers. 61 6
29510612 2019
48
Considerations for total thyroidectomy in an adolescent with PTEN mutation. 61 6
30181857 2018
49
Identification of a PTEN mutation with reduced protein stability, phosphatase activity, and nuclear localization in Hong Kong patients with autistic features, neurodevelopmental delays, and macrocephaly. 6 61
29608813 2018
50
A pathogenic role for germline PTEN variants which accumulate into the nucleus. 6 61
29706633 2018

Variations for Cowden Syndrome 1

ClinVar genetic disease variations for Cowden Syndrome 1:

6 (show top 50) (show all 1418)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 PTEN NM_001304718.2(PTEN):c.-541-5519del Deletion Pathogenic 428259 rs1114167671 GRCh37: 10:89685282-89685282
GRCh38: 10:87925525-87925525
2 PTEN NM_000314.7(PTEN):c.469G>T (p.Glu157Ter) SNV Pathogenic 7814 rs121909220 GRCh37: 10:89692985-89692985
GRCh38: 10:87933228-87933228
3 PTEN NM_000314.7(PTEN):c.510T>A (p.Ser170Arg) SNV Pathogenic 7815 rs121909221 GRCh37: 10:89711892-89711892
GRCh38: 10:87952135-87952135
4 PTEN NM_001304718.2(PTEN):c.-404_-400del Deletion Pathogenic 7818 rs587776666 GRCh37: 10:89692863-89692867
GRCh38: 10:87933106-87933110
5 PTEN NM_000314.7(PTEN):c.696del (p.Arg233fs) Deletion Pathogenic 7822 rs587776669 GRCh37: 10:89717671-89717671
GRCh38: 10:87957914-87957914
6 PTEN NM_001304718.2(PTEN):c.-6del Deletion Pathogenic 7823 rs587776670 GRCh37: 10:89711968-89711968
GRCh38: 10:87952211-87952211
7 PTEN NM_001304718.2(PTEN):c.-58_-57delinsAT Indel Pathogenic 7824 rs397515374 GRCh37: 10:89711916-89711917
GRCh38: 10:87952159-87952160
8 PTEN NM_001304718.2(PTEN):c.-602T>G SNV Pathogenic 7825 rs121909225 GRCh37: 10:89653806-89653806
GRCh38: 10:87894049-87894049
9 PTEN NM_001304718.2(PTEN):c.-541-5489T>C SNV Pathogenic 7826 rs121909226 GRCh37: 10:89685314-89685314
GRCh38: 10:87925557-87925557
10 PTEN NM_000314.7(PTEN):c.766G>T (p.Glu256Ter) SNV Pathogenic 7828 rs121909228 GRCh37: 10:89717741-89717741
GRCh38: 10:87957984-87957984
11 PTEN C124S Variation Pathogenic 7835 GRCh37:
GRCh38:
12 PTEN NM_000314.6(PTEN):c.802delG (p.Asp268Thrfs) Deletion Pathogenic 7839 rs587776672 GRCh37: 10:89720650-89720650
GRCh38: 10:87960893-87960893
13 PTEN PTEN, DEL Deletion Pathogenic 7846 GRCh37:
GRCh38:
14 PTEN NM_000314.8(PTEN):c.180del (p.Lys60fs) Deletion Pathogenic 7847 rs1589640429 GRCh37: 10:89685285-89685285
GRCh38: 10:87925528-87925528
15 PTEN NM_000314.8(PTEN):c.951_954ACTT[1] (p.Leu318_Thr319insTer) Microsatellite Pathogenic 71118 rs146650273 GRCh37: 10:89720799-89720802
GRCh38: 10:87961042-87961045
16 PTEN NM_001304718.2(PTEN):c.-362del Deletion Pathogenic 192224 rs121913292 GRCh37: 10:89692905-89692905
GRCh38: 10:87933148-87933148
17 PTEN NM_000314.7(PTEN):c.422A>C (p.His141Pro) SNV Pathogenic 216422 rs863224666 GRCh37: 10:89692938-89692938
GRCh38: 10:87933181-87933181
18 PTEN NM_000314.7(PTEN):c.437T>G (p.Leu146Ter) SNV Pathogenic 216068 rs786204933 GRCh37: 10:89692953-89692953
GRCh38: 10:87933196-87933196
19 PTEN NM_000314.7(PTEN):c.845del (p.Gly282fs) Deletion Pathogenic 220275 rs864622451 GRCh37: 10:89720693-89720693
GRCh38: 10:87960936-87960936
20 PTEN NM_000314.7(PTEN):c.987_996dup (p.Ala333Ter) Duplication Pathogenic 220115 rs864622387 GRCh37: 10:89720831-89720832
GRCh38: 10:87961074-87961075
21 PTEN NM_000314.7(PTEN):c.424del (p.Arg142fs) Deletion Pathogenic 224546 rs869312779 GRCh37: 10:89692940-89692940
GRCh38: 10:87933183-87933183
22 PTEN NM_001304718.2(PTEN):c.-574dup Duplication Pathogenic 237640 rs878853933 GRCh37: 10:89653833-89653834
GRCh38: 10:87894076-87894077
23 SDHD NM_003002.4(SDHD):c.361C>T (p.Gln121Ter) SNV Pathogenic 239470 rs878854594 GRCh37: 11:111965575-111965575
GRCh38: 11:112094851-112094851
24 PTEN NM_000314.7(PTEN):c.195C>G (p.Tyr65Ter) SNV Pathogenic 237643 rs878853936 GRCh37: 10:89685300-89685300
GRCh38: 10:87925543-87925543
25 PTEN NM_000314.7(PTEN):c.765_766AG[1] (p.Glu256fs) Microsatellite Pathogenic 224547 rs869312780 GRCh37: 10:89717740-89717741
GRCh38: 10:87957983-87957984
26 PTEN NM_000314.7(PTEN):c.118G>T (p.Glu40Ter) SNV Pathogenic 224545 rs869312778 GRCh37: 10:89653820-89653820
GRCh38: 10:87894063-87894063
27 PTEN NM_001304718.2(PTEN):c.-47dup Duplication Pathogenic 237649 rs878853941 GRCh37: 10:89711925-89711926
GRCh38: 10:87952168-87952169
28 PTEN NM_000314.7(PTEN):c.877G>T (p.Gly293Ter) SNV Pathogenic 237654 rs878853944 GRCh37: 10:89720726-89720726
GRCh38: 10:87960969-87960969
29 PTEN NM_000314.7(PTEN):c.755_756AT[3] (p.Lys254fs) Microsatellite Pathogenic 237650 rs878853942 GRCh37: 10:89717729-89717730
GRCh38: 10:87957972-87957973
30 PTEN NM_000314.6(PTEN):c.80-?_492+?del Deletion Pathogenic 254038 GRCh37:
GRCh38:
31 EGFR NM_005228.5(EGFR):c.977G>T (p.Cys326Phe) SNV Pathogenic 254143 rs886037891 GRCh37: 7:55223610-55223610
GRCh38: 7:55155917-55155917
32 PTEN NM_000314.8(PTEN):c.633C>A SNV Pathogenic 7836 rs121909232 GRCh37: 10:89712015-89712015
GRCh38: 10:87952258-87952258
33 PTEN NM_000314.7(PTEN):c.723dup (p.Glu242Ter) Duplication Pathogenic 404149 rs1060500115 GRCh37: 10:89717695-89717696
GRCh38: 10:87957938-87957939
34 SDHD NM_003002.4(SDHD):c.325C>T (p.Gln109Ter) SNV Pathogenic 412498 rs1060503770 GRCh37: 11:111965539-111965539
GRCh38: 11:112094815-112094815
35 PTEN NM_000314.7(PTEN):c.445C>T (p.Gln149Ter) SNV Pathogenic 404164 rs1060500122 GRCh37: 10:89692961-89692961
GRCh38: 10:87933204-87933204
36 PTEN NM_001304718.2(PTEN):c.-404_-400del Deletion Pathogenic 7818 rs587776666 GRCh37: 10:89692863-89692867
GRCh38: 10:87933106-87933110
37 PTEN NM_000314.8(PTEN):c.801+1del Deletion Pathogenic 404140 rs1060500110 GRCh37: 10:89717776-89717776
GRCh38: 10:87958019-87958019
38 PTEN NC_000010.11:g.(?_87894025)_(87894109_?)del Deletion Pathogenic 417326 GRCh37: 10:89653782-89653866
GRCh38: 10:87894025-87894109
39 PTEN NM_001304718.2(PTEN):c.-541-5498dup Duplication Pathogenic 404145 rs1060500113 GRCh37: 10:89685304-89685305
GRCh38: 10:87925547-87925548
40 PTEN NM_001304718.2(PTEN):c.-405_-393dup Duplication Pathogenic 404150 rs1064792910 GRCh37: 10:89692861-89692862
GRCh38: 10:87933104-87933105
41 PTEN NM_000314.7(PTEN):c.744_745TG[3] (p.Cys250fs) Microsatellite Pathogenic 404156 rs780264945 GRCh37: 10:89717719-89717720
GRCh38: 10:87957962-87957963
42 PTEN NM_000314.7(PTEN):c.802-2A>G SNV Pathogenic 189509 rs587782455 GRCh37: 10:89720649-89720649
GRCh38: 10:87960892-87960892
43 PTEN NM_000314.7(PTEN):c.605C>T (p.Thr202Ile) SNV Pathogenic 427595 rs1085308053 GRCh37: 10:89711987-89711987
GRCh38: 10:87952230-87952230
44 PTEN NM_000314.7(PTEN):c.635-1G>A SNV Pathogenic 427598 rs876661024 GRCh37: 10:89717609-89717609
GRCh38: 10:87957852-87957852
45 PTEN NM_001304718.2(PTEN):c.-331dup Duplication Pathogenic 427592 rs1085308050 GRCh37: 10:89692935-89692936
GRCh38: 10:87933178-87933179
46 PTEN NM_000314.7(PTEN):c.164+1G>C SNV Pathogenic 427583 rs1554893835 GRCh37: 10:89653867-89653867
GRCh38: 10:87894110-87894110
47 PTEN NM_000314.7(PTEN):c.1004G>A (p.Arg335Gln) SNV Pathogenic 427580 rs1085308040 GRCh37: 10:89720853-89720853
GRCh38: 10:87961096-87961096
48 PTEN NM_000314.7(PTEN):c.607_608del (p.Ile203fs) Deletion Pathogenic 427596 rs1085308054 GRCh37: 10:89711988-89711989
GRCh38: 10:87952231-87952232
49 PTEN NM_000314.7(PTEN):c.253+1G>C SNV Pathogenic 427585 rs587776667 GRCh37: 10:89690847-89690847
GRCh38: 10:87931090-87931090
50 PTEN NM_000314.7(PTEN):c.821G>T (p.Trp274Leu) SNV Pathogenic 427600 rs786204875 GRCh37: 10:89720670-89720670
GRCh38: 10:87960913-87960913

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

72 (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 rs57374291
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 330)
# Cosmic Mut ID Gene Symbol COSMIC Disease Classification
(Primary site, Site subtype, Primary histology, Histology subtype)
Mutation CDS Mutation AA GRCh38 Location Conf
1 COSM107894721 TP63 skin,penis,carcinoma,NS c.1910C>T p.A637V 3:189894381-189894381 9
2 COSM113474690 TP63 skin,penis,carcinoma,NS c.1385C>T p.A462V 3:189894381-189894381 9
3 COSM88644633 TP63 skin,penis,carcinoma,NS c.1922C>T p.A641V 3:189894381-189894381 9
4 COSM114684035 TP63 skin,penis,carcinoma,NS c.1628C>T p.A543V 3:189894381-189894381 9
5 COSM90478215 TP63 skin,penis,carcinoma,NS c.*150C>T p.? 3:189894381-189894381 9
6 COSM89453262 TP63 skin,penis,carcinoma,NS c.1640C>T p.A547V 3:189894381-189894381 9
7 COSM144659648 TP53 skin,chest,carcinoma,NS c.716C>T p.P239L 17:7673787-7673787 9
8 COSM112253698 TP53 skin,chest,carcinoma,NS c.853G>A p.E285K 17:7673767-7673767 9
9 COSM111766659 TP53 skin,chest,carcinoma,NS c.833C>T p.P278L 17:7673787-7673787 9
10 COSM93183307 TP53 skin,penis,carcinoma,NS c.524G>A p.R175H 17:7675088-7675088 9
11 COSM145018420 TP53 breast,NS,carcinoma,normal-like carcinoma c.371A>G p.Y124C 17:7675124-7675124 9
12 COSM143371571 TP53 breast,NS,carcinoma,normal-like carcinoma c.371A>G p.Y124C 17:7675124-7675124 9
13 COSM111765517 TP53 skin,chest,carcinoma,NS c.260C>A p.P87Q 17:7676109-7676109 9
14 COSM87910495 TP53 skin,chest,carcinoma,NS c.832C>T p.P278S 17:7673788-7673788 9
15 COSM144652172 TP53 skin,chest,carcinoma,NS c.258+1G>A p.? 17:7675993-7675993 9
16 COSM142567400 TP53 skin,chest,carcinoma,NS c.716C>T p.P239L 17:7673787-7673787 9
17 COSM144013113 TP53 skin,penis,carcinoma,NS c.491G>A p.R164H 17:7675088-7675088 9
18 COSM93190386 TP53 skin,chest,carcinoma,NS c.260C>A p.P87Q 17:7676109-7676109 9
19 COSM112253879 TP53 skin,chest,carcinoma,NS c.742C>T p.R248W 17:7674221-7674221 9
20 COSM112254313 TP53 breast,NS,carcinoma,normal-like carcinoma c.488A>G p.Y163C 17:7675124-7675124 9
21 COSM143943565 TP53 skin,penis,carcinoma,NS c.47G>A p.R16H 17:7675088-7675088 9
22 COSM144310842 TP53 breast,NS,carcinoma,normal-like carcinoma c.371A>G p.Y124C 17:7675124-7675124 9
23 COSM143370595 TP53 skin,penis,carcinoma,NS c.407G>A p.R136H 17:7675088-7675088 9
24 COSM111769796 TP53 skin,chest,carcinoma,NS c.832C>T p.P278S 17:7673788-7673788 9
25 COSM105620035 TP53 breast,NS,carcinoma,normal-like carcinoma c.659A>G p.Y220C 17:7674872-7674872 9
26 COSM87906968 TP53 skin,chest,carcinoma,NS c.833C>T p.P278L 17:7673787-7673787 9
27 COSM142837225 TP53 breast,NS,carcinoma,normal-like carcinoma c.659A>G p.Y220C 17:7674872-7674872 9
28 COSM144013457 TP53 skin,chest,carcinoma,NS c.820G>A p.E274K 17:7673767-7673767 9
29 COSM144310046 TP53 breast,NS,carcinoma,normal-like carcinoma c.542A>G p.Y181C 17:7674872-7674872 9
30 COSM106053362 TP53 skin,chest,carcinoma,NS c.733G>A p.G245S 17:7674230-7674230 9
31 COSM106060507 TP53 skin,chest,carcinoma,NS c.833C>T p.P278L 17:7673787-7673787 9
32 COSM145021112 TP53 skin,chest,carcinoma,NS c.617G>A p.G206D 17:7674229-7674229 9
33 COSM144309944 TP53 skin,penis,carcinoma,NS c.407G>A p.R136H 17:7675088-7675088 9
34 COSM105621361 TP53 skin,chest,carcinoma,NS c.375+1G>A p.? 17:7675993-7675993 9
35 COSM106053265 TP53 skin,chest,carcinoma,NS c.853G>A p.E285K 17:7673767-7673767 9
36 COSM144650895 TP53 breast,NS,carcinoma,normal-like carcinoma c.542A>G p.Y181C 17:7674872-7674872 9
37 COSM144653365 TP53 skin,chest,carcinoma,NS c.520C>T p.R174* 17:7674894-7674894 9
38 COSM144086999 TP53 breast,NS,carcinoma,normal-like carcinoma c.239A>G p.N80S 17:7674247-7674247 9
39 COSM144662686 TP53 skin,chest,carcinoma,NS c.715C>T p.P239S 17:7673788-7673788 9
40 COSM105622516 TP53 skin,chest,carcinoma,NS c.637C>T p.R213* 17:7674894-7674894 9
41 COSM142839600 TP53 skin,chest,carcinoma,NS c.734G>A p.G245D 17:7674229-7674229 9
42 COSM105630961 TP53 skin,chest,carcinoma,NS c.782+393C>T p.? 17:7673788-7673788 9
43 COSM142837497 TP53 skin,chest,carcinoma,NS c.733G>A p.G245S 17:7674230-7674230 9
44 COSM87899377 TP53 skin,chest,carcinoma,NS c.375+1G>A p.? 17:7675993-7675993 9
45 COSM142559914 TP53 skin,penis,carcinoma,NS c.407G>A p.R136H 17:7675088-7675088 9
46 COSM144016541 TP53 skin,chest,carcinoma,NS c.701G>A p.G234D 17:7674229-7674229 9
47 COSM144651221 TP53 skin,chest,carcinoma,NS c.736G>A p.E246K 17:7673767-7673767 9
48 COSM111758868 TP53 skin,chest,carcinoma,NS c.742C>T p.R248W 17:7674221-7674221 9
49 COSM112254544 TP53 skin,chest,carcinoma,NS c.375+1G>A p.? 17:7675993-7675993 9
50 COSM145025441 TP53 skin,chest,carcinoma,NS c.716C>T p.P239L 17:7673787-7673787 9

Copy number variations for Cowden Syndrome 1 from CNVD:

7
# CNVD ID Chromosome 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 top 50) (show all 147)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
14.3 TSC2 STK11 SMAD4 PTEN PIK3R2 PIK3CD
2
Show member pathways
13.93 TSC2 STK11 SMAD4 PTEN PIK3R2 MTOR
3
Show member pathways
13.59 TSC2 PTEN PIK3R2 PIK3CD PIK3CA NEDD4
4
Show member pathways
13.53 TSC2 SDHD SDHB PTEN PIK3R2 PIK3CD
5
Show member pathways
13.5 TSC2 PTEN PIK3R2 MTOR EGFR BMPR1A
6
Show member pathways
13.26 TSC2 PTEN PIK3R2 PIK3CD PIK3CA MTOR
7
Show member pathways
13.22 TSC2 PTEN PIK3R2 PIK3CD PIK3CA MTOR
8
Show member pathways
13.16 TSC2 STK11 PIK3R2 MTOR EGFR AKT1
9
Show member pathways
13.1 TSC2 STK11 PTEN PIK3R2 PIK3CD PIK3CA
10
Show member pathways
13.09 TSC2 PIK3R2 PIK3CD PIK3CA MTOR EGFR
11
Show member pathways
13.05 TNS1 PTEN PIK3R2 PIK3CD PIK3CA EGFR
12
Show member pathways
13.05 TSC2 PTEN PIK3R2 PIK3CD PIK3CA MTOR
13
Show member pathways
13.02 PTEN PIK3R2 PIK3CD PIK3CA MTOR EGFR
14 12.99 SMAD4 PTEN PIK3R2 PIK3CD PIK3CA MTOR
15
Show member pathways
12.95 PIK3R2 PIK3CD PIK3CA EGFR AKT1
16 12.94 TSC2 PIK3R2 PIK3CD PIK3CA MTOR AKT1
17
Show member pathways
12.93 SDHD SDHB PIK3R2 PIK3CD PIK3CA
18
Show member pathways
12.92 PIK3R2 PIK3CD PIK3CA NEDD4 AKT1
19
Show member pathways
12.92 PTEN PIK3R2 PIK3CD PIK3CA MTOR AKT1
20
Show member pathways
12.9 SMAD4 PTEN PIK3R2 PIK3CD PIK3CA MTOR
21
Show member pathways
12.89 TSC2 SMAD4 PTEN PIK3R2 PIK3CD PIK3CA
22
Show member pathways
12.86 PTEN PIK3R2 PIK3CD PIK3CA MTOR AKT1
23
Show member pathways
12.85 TSC2 PTEN PIK3R2 PIK3CD PIK3CA MTOR
24
Show member pathways
12.84 PIK3R2 PIK3CD PIK3CA EGFR AKT1
25
Show member pathways
12.82 PIK3R2 PIK3CD PIK3CA MTOR EGFR AKT1
26
Show member pathways
12.79 TSC2 PIK3R2 PIK3CD PIK3CA MTOR EGFR
27
Show member pathways
12.77 PTEN PIK3R2 PIK3CD PIK3CA MTOR EGFR
28
Show member pathways
12.76 TSC2 PTEN PIK3R2 PIK3CD PIK3CA MTOR
29
Show member pathways
12.75 PTEN PIK3R2 PIK3CD PIK3CA MTOR EGFR
30
Show member pathways
12.71 PIK3R2 PIK3CD PIK3CA EGFR AKT1
31
Show member pathways
12.71 PTEN PIK3R2 PIK3CD PIK3CA AKT1
32
Show member pathways
12.7 PIK3R2 PIK3CD PIK3CA EGFR AKT1
33 12.69 PTEN PIK3R2 PIK3CD PIK3CA MTOR EGFR
34
Show member pathways
12.67 TSC2 PTEN PIK3R2 PIK3CD PIK3CA MTOR
35
Show member pathways
12.65 PTEN PIK3R2 PIK3CD PIK3CA MTOR AKT1
36
Show member pathways
12.65 SMAD4 PTEN PIK3CD PIK3CA MTOR EGFR
37
Show member pathways
12.63 TSC2 STK11 PIK3R2 PIK3CD PIK3CA MTOR
38
Show member pathways
12.59 PTEN PIK3R2 PIK3CA MTOR AKT1
39
Show member pathways
12.58 TSC2 STK11 PIK3R2 PIK3CA MTOR AKT1
40
Show member pathways
12.58 PIK3R2 PIK3CD PIK3CA MTOR EGFR AKT1
41
Show member pathways
12.58 PIK3R2 PIK3CD PIK3CA MTOR EGFR BMPR1A
42 12.57 PIK3R2 PIK3CD PIK3CA MTOR EGFR AKT1
43
Show member pathways
12.55 PIK3R2 PIK3CD PIK3CA EGFR AKT1
44
Show member pathways
12.55 PTEN PIK3R2 PIK3CD PIK3CA AKT1
45
Show member pathways
12.53 TSC2 PIK3R2 PIK3CD PIK3CA MTOR EGFR
46 12.52 SMAD4 PTEN PIK3R2 PIK3CD PIK3CA AKT1
47
Show member pathways
12.51 PIK3R2 PIK3CD PIK3CA AKT1
48
Show member pathways
12.51 TSC2 PTEN PIK3R2 PIK3CD PIK3CA MTOR
49
Show member pathways
12.5 PIK3R2 PIK3CD PIK3CA AKT1
50
Show member pathways
12.5 PIK3R2 PIK3CD PIK3CA EGFR AKT1

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 mitochondrial respiratory chain complex II, succinate dehydrogenase complex (ubiquinone) GO:0005749 8.96 SDHD SDHB
2 phosphatidylinositol 3-kinase complex GO:0005942 8.8 PIK3R2 PIK3CD PIK3CA

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

(show all 26)
# Name GO ID Score Top Affiliating Genes
1 phosphorylation GO:0016310 10.02 STK11 PIK3CD PIK3CA MTOR EGFR BMPR1A
2 protein phosphorylation GO:0006468 9.91 STK11 PIK3CD PIK3CA MTOR EGFR BMPR1A
3 T cell receptor signaling pathway GO:0050852 9.85 STK11 PIK3R2 PIK3CD PIK3CA
4 protein autophosphorylation GO:0046777 9.84 STK11 MTOR EGFR AKT1
5 positive regulation of phosphatidylinositol 3-kinase signaling GO:0014068 9.8 PIK3CD PIK3CA NEDD4
6 positive regulation of peptidyl-serine phosphorylation GO:0033138 9.8 PIK3CA EGFR AKT1
7 positive regulation of protein kinase B signaling GO:0051897 9.8 PIK3R2 PIK3CD PIK3CA MTOR EGFR
8 positive regulation of endothelial cell proliferation GO:0001938 9.78 PIK3CD MTOR AKT1
9 cellular response to growth factor stimulus GO:0071363 9.77 EGFR BMPR1A AKT1
10 negative regulation of protein kinase B signaling GO:0051898 9.77 TSC2 PTEN AKT1
11 positive regulation of smooth muscle cell proliferation GO:0048661 9.76 MTOR EGFR AKT1
12 phosphatidylinositol phosphorylation GO:0046854 9.74 PIK3R2 PIK3CD PIK3CA
13 phosphatidylinositol-mediated signaling GO:0048015 9.73 PIK3R2 PIK3CD PIK3CA
14 phosphatidylinositol biosynthetic process GO:0006661 9.73 PTEN PIK3R2 PIK3CD PIK3CA
15 epidermal growth factor receptor signaling pathway GO:0007173 9.7 PIK3CA EGFR AKT1
16 regulation of protein kinase B signaling GO:0051896 9.63 STK11 PTEN MTOR
17 fibroblast migration GO:0010761 9.62 TNS1 AKT1
18 regulation of glycogen biosynthetic process GO:0005979 9.61 MTOR AKT1
19 mesendoderm development GO:0048382 9.58 SMAD4 BMPR1A
20 cellular response to decreased oxygen levels GO:0036294 9.51 PTEN AKT1
21 negative regulation of macroautophagy GO:0016242 9.5 PIK3CA MTOR AKT1
22 response to UV-A GO:0070141 9.49 EGFR AKT1
23 protein kinase B signaling GO:0043491 9.46 TSC2 PTEN PIK3CA AKT1
24 negative regulation of cell size GO:0045792 9.43 PTEN MTOR AKT1
25 phosphatidylinositol 3-kinase signaling GO:0014065 9.35 PTEN PIK3R2 PIK3CD PIK3CA AKT1
26 anoikis GO:0043276 9.02 TSC2 STK11 PIK3CA MTOR AKT1

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

(show all 12)
# Name GO ID Score Top Affiliating Genes
1 transferase activity GO:0016740 10.08 STK11 PIK3CD PIK3CA NEDD4 MTOR EGFR
2 protein kinase activity GO:0004672 9.89 STK11 MTOR EGFR BMPR1A AKT1
3 protein serine/threonine kinase activity GO:0004674 9.55 STK11 PIK3CA MTOR BMPR1A AKT1
4 phosphatidylinositol kinase activity GO:0052742 9.51 PIK3CD PIK3CA
5 1-phosphatidylinositol-3-kinase activity GO:0016303 9.46 PIK3CD PIK3CA
6 nitric-oxide synthase regulator activity GO:0030235 9.43 EGFR AKT1
7 ubiquinone binding GO:0048039 9.4 SDHD SDHB
8 phosphatidylinositol-4,5-bisphosphate 3-kinase activity GO:0046934 9.37 PIK3CD PIK3CA
9 1-phosphatidylinositol-4-phosphate 3-kinase activity GO:0035005 9.32 PIK3CD PIK3CA
10 phosphatidylinositol 3-kinase activity GO:0035004 9.26 PIK3CD PIK3CA
11 kinase activity GO:0016301 9.17 STK11 PIK3CD PIK3CA MTOR EGFR BMPR1A
12 phosphatidylinositol-3,4-bisphosphate 5-kinase activity GO:0052812 8.96 PIK3CD PIK3CA

Sources for Cowden Syndrome 1

3 CDC
7