MCID: CWD006
MIFTS: 51

Cowden Syndrome 1

Categories: Genetic diseases, Neuronal diseases, Skin diseases, Fetal diseases, Rare diseases, Gastrointestinal diseases

Aliases & Classifications for Cowden Syndrome 1

MalaCards integrated aliases for Cowden Syndrome 1:

Name: Cowden Syndrome 1 54 71 29 13
Lhermitte-Duclos Disease 56 71 29 69
Dysplastic Gangliocytoma of the Cerebellum 56 71
Cerebelloparenchymal Disorder Vi 71 69
Pten Hamartoma Tumor Syndrome 71 69
Ldd 56 71
Cs 71 3
Cerebellar Granule Cell Hypertrophy and Megalencephaly 71
Hamartoma Syndrome, Multiple 69
Multiple Hamartoma Syndrome 71
Lhermitte-Duclos Syndrome 54
Proteus-Like Syndrome 56
Cohen-Hayden Syndrome 56
Cowden Disease 71
Phts 71
Mham 71
Cws1 71
Cpd6 71
Cd 71

Characteristics:

Orphanet epidemiological data:

56
proteus-like syndrome
Inheritance: Autosomal dominant; Age of onset: Infancy,Neonatal;
lhermitte-duclos disease
Prevalence: <1/1000000 (Worldwide); Age of onset: Adult;

OMIM:

54
Inheritance:
autosomal dominant

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


HPO:

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


Classifications:



Summaries for Cowden Syndrome 1

UniProtKB/Swiss-Prot : 71 Cowden syndrome 1: An autosomal dominant hamartomatous polyposis syndrome with age- related penetrance. Cowden syndrome is characterized by hamartomatous lesions affecting derivatives of ectodermal, mesodermal and endodermal layers, macrocephaly, facial trichilemmomas (benign tumors of the hair follicle infundibulum), acral keratoses, papillomatous papules, and elevated risk for development of several types of malignancy, particularly breast carcinoma in women and thyroid carcinoma in both men and women. Colon cancer and renal cell carcinoma have also been reported. Hamartomas can be found in virtually every organ, but most commonly in the skin, gastrointestinal tract, breast and thyroid. Lhermitte-Duclos disease: A rare disease characterized by the occurrence of a slowly enlarging mass within the cerebellar cortex corresponding histologically to a cerebellar hamartoma. It manifests, most commonly in the third and fourth decades of life, with increased intracranial pressure, headache, nausea, cerebellar dysfunction, occlusive hydrocephalus, ataxia, visual disturbances and other cranial nerve palsies. Various associated abnormalities may be present such as megalencephaly, microgyria, hydromyelia, polydactyly, partial gigantism, macroglossia. LDD is part of the PTEN hamartoma tumor syndromes spectrum that also includes Cowden syndrome.

MalaCards based summary : Cowden Syndrome 1, also known as lhermitte-duclos disease, is related to bannayan-riley-ruvalcaba syndrome and pten hamartoma tumor syndrome, and has symptoms including macroglossia, ataxia and myopia. An important gene associated with Cowden Syndrome 1 is PTEN (Phosphatase And Tensin Homolog), and among its related pathways/superpathways are Class I MHC mediated antigen processing and presentation and VEGF Signaling Pathway. The drugs Everolimus and Miconazole have been mentioned in the context of this disorder. Affiliated tissues include breast, skin and thyroid.

OMIM : 54
Cowden syndrome and Bannayan-Ruvalcaba-Riley syndrome (BRRS; 153480) share clinical characteristics such as hamartomatous polyps of the gastrointestinal tract, mucocutaneous lesions, and increased risk of developing neoplasms. Furthermore, both conditions and several other distinctive phenotypes are caused by mutations in the PTEN gene. For this reason Marsh et al. (1999) suggested that the spectrum of disorders be referred to as PTEN hamartoma tumor syndrome (PHTS). Approximately 80% of CS patients 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). Blumenthal and Dennis (2008) provided a detailed review of PTEN hamartoma tumor syndromes. (158350)

Related Diseases for Cowden Syndrome 1

Diseases in the Cowden Disease family:

Cowden Syndrome 2 Cowden Syndrome 5
Cowden Syndrome 4 Cowden Syndrome 1
Cowden Syndrome 3 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 65)
id Related Disease Score Top Affiliating Genes
1 bannayan-riley-ruvalcaba syndrome 31.5 CD96 EGFR PTEN
2 pten hamartoma tumor syndrome 12.6
3 proteus-like syndrome 12.5
4 proteus like syndrome mental retardation eye defect 12.1
5 cockayne syndrome 11.6
6 xeroderma pigmentosum, group d 11.5
7 xeroderma pigmentosum, group g 11.3
8 xeroderma pigmentosum, group f 11.3
9 xeroderma pigmentosum, group b 11.3
10 chanarin-dorfman syndrome 11.3
11 epilepsy occipital calcifications 11.3
12 primary pigmented nodular adrenocortical disease 11.2
13 acth-independent macronodular adrenal hyperplasia 11.2
14 castleman disease 11.2
15 conduct disorder 11.1
16 cowden disease 11.1
17 polyposis, juvenile intestinal 11.1
18 megalencephaly-capillary malformation-polymicrogyria syndrome, somatic 11.1
19 oppositional defiant disorder 11.1
20 conversion disorder 11.1
21 cockayne syndrome, type a 11.0
22 diabetes mellitus, noninsulin-dependent 11.0
23 intervertebral disc disease 10.8
24 viral encephalitis 10.0 CD96 PTEN
25 thyroiditis 10.0
26 rett syndrome 10.0
27 leber congenital amaurosis 10.0
28 hypoxia 9.9
29 neuroma 9.8
30 breast disease 9.8
31 cataract 9.8
32 hemangioma 9.8
33 breast cancer 9.8
34 renal cell carcinoma 9.8
35 mucositis 9.8
36 choroiditis 9.8
37 lymphopenia 9.8 EGFR PTEN
38 rectum kaposi's sarcoma 9.8 EGFR PTEN
39 myxedema 9.8 EGFR PTEN
40 juvenile astrocytoma 9.8 EGFR PTEN
41 cystic lymphangioma 9.8 EGFR PTEN
42 cleft lip palate dysmorphism kumar type 9.8 EGFR PTEN
43 brachyolmia 9.8 EGFR PTEN
44 pulmonary subvalvular stenosis 9.8 EGFR PTEN
45 endometriosis of uterus 9.8 EGFR PTEN
46 trachea squamous cell carcinoma 9.8 EGFR PTEN
47 periventricular nodular heterotopia 6 9.7 EGFR PTEN
48 grade iii astrocytoma 9.7 EGFR PTEN
49 nasopharyngeal carcinoma 9.7 EGFR PTEN
50 bardet-biedl syndrome 9.7 EGFR PTEN

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



Diseases related to Cowden Syndrome 1

Symptoms & Phenotypes for Cowden Syndrome 1

Symptoms via clinical synopsis from OMIM:

54

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

Head And Neck- Eyes:
myopia
cataract
angioid streaks

Neoplasia:
ovarian carcinoma
breast cancer
meningioma
cervical carcinoma
uterine adenocarcinoma
more
Endocrine Features:
goiter
hyperthyroidism
hypothyroidism
thyroid adenoma
thyroiditis
more
Immunology:
recurrent infections (in some patients)
hypogammaglobulinemia (in some patients)
primary immunodeficiency (in some patients)
opportunistic infections (in some patients)
lymphopenia (in some patients)
more
Growth- Weight:
obesity, increased risk of

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- External Genitalia Female:
vaginal cysts
vulvar cysts

Skin Nails & Hair- Skin:
multiple facial papules
acral keratoses
palmoplantar keratoses
multiple skin tags
facial trichilemmomas
more
Skeletal- Spine:
scoliosis
kyphosis

Head And Neck- Ears:
hearing loss

Chest- Ribs Sternum Clavicles And Scapulae:
pectus excavatum

Neurologic- Central Nervous System:
intention tremor
seizure
psychomotor delay, mild to moderate
lhermitte-duclos disease
mental retardation, mild to moderate (in 12%)
more
Genitourinary- External Genitalia Male:
hydrocele
varicocele

Head And Neck- Head:
progressive macrocephaly

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

Abdomen- Gastroin testinal:
hamartomatous polyps
colonic diverticula

Genitourinary- Internal Genitalia Female:
ovarian cysts
leiomyomas


Clinical features from OMIM:

158350

Human phenotypes related to Cowden Syndrome 1:

56 32 (show top 50) (show all 78)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 macroglossia 56 32 hallmark (90%) Very frequent (99-80%) HP:0000158
2 ataxia 56 32 hallmark (90%) Very frequent (99-80%) HP:0001251
3 myopia 56 32 Very frequent (99-80%) HP:0000545
4 headache 56 32 hallmark (90%) Very frequent (99-80%) HP:0002315
5 seizures 56 32 hallmark (90%) Very frequent (99-80%) HP:0001250
6 hydrocephalus 56 32 hallmark (90%) Frequent (79-30%),Very frequent (99-80%) HP:0000238
7 polymicrogyria 56 32 hallmark (90%) Very frequent (99-80%) HP:0002126
8 macrocephaly 56 32 hallmark (90%) Frequent (79-30%),Very frequent (99-80%) HP:0000256
9 cataract 56 32 Frequent (79-30%) HP:0000518
10 cranial nerve paralysis 56 32 hallmark (90%) Very frequent (99-80%) HP:0006824
11 increased intracranial pressure 56 32 hallmark (90%) Very frequent (99-80%) HP:0002516
12 enlarged cerebellum 56 32 hallmark (90%) Very frequent (99-80%) HP:0012081
13 trichilemmoma 56 32 frequent (33%) Frequent (79-30%) HP:0012844
14 nausea and vomiting 56 32 hallmark (90%) Very frequent (99-80%) HP:0002017
15 acrokeratosis 56 32 frequent (33%) Frequent (79-30%) HP:0200016
16 hand polydactyly 56 32 hallmark (90%) Very frequent (99-80%) HP:0001161
17 subcutaneous lipoma 56 32 Very frequent (99-80%) HP:0001031
18 ovarian neoplasm 56 32 frequent (33%) Frequent (79-30%) HP:0100615
19 papule 56 32 hallmark (90%) Very frequent (99-80%) HP:0200034
20 neoplasm of the thyroid gland 56 32 frequent (33%) Frequent (79-30%) HP:0100031
21 scoliosis 32 HP:0002650
22 retinal detachment 56 Frequent (79-30%)
23 splenomegaly 56 Occasional (29-5%)
24 micrognathia 32 HP:0000347
25 kyphosis 32 HP:0002808
26 anteverted nares 56 Occasional (29-5%)
27 intellectual disability 56 Very frequent (99-80%)
28 intellectual disability, mild 32 HP:0001256
29 pectus excavatum 32 HP:0000767
30 hemangioma 56 Very frequent (99-80%)
31 hydrocele testis 32 HP:0000034
32 downslanted palpebral fissures 56 Occasional (29-5%)
33 goiter 32 HP:0000853
34 hyperthyroidism 32 HP:0000836
35 high palate 32 HP:0000218
36 intention tremor 32 HP:0002080
37 hypothyroidism 32 HP:0000821
38 dolichocephaly 56 Occasional (29-5%)
39 gynecomastia 32 HP:0000771
40 breast carcinoma 32 HP:0003002
41 skeletal dysplasia 56 Occasional (29-5%)
42 furrowed tongue 32 HP:0000221
43 meningioma 32 HP:0002858
44 polycystic ovaries 56 Occasional (29-5%)
45 heterochromia iridis 56 Frequent (79-30%)
46 palmoplantar hyperkeratosis 32 HP:0000972
47 thyroid adenoma 32 HP:0000854
48 hearing impairment 32 HP:0000365
49 open bite 56 Very frequent (99-80%)
50 genu recurvatum 56 Very frequent (99-80%)

UMLS symptoms related to Cowden Syndrome 1:


seizures, action tremor

Drugs & Therapeutics for Cowden Syndrome 1

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

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

Interventional clinical trials:


id Name Status NCT ID Phase Drugs
1 Sirolimus to Treat Cowden Syndrome and Other PTEN Hamartomatous Tumor Syndromes Completed NCT00971789 Phase 2 sirolimus
2 A Phase I/II Study of BGT226 in Adult Patients With Advanced Solid Malignancies Including Patients With Advanced Breast Cancer Completed NCT00600275 Phase 1, Phase 2 BGT226
3 A Phase I/II Study of BEZ235 in Patients With Advanced Solid Malignancies Enriched by Patients With Advanced Breast Cancer Completed NCT00620594 Phase 1 BEZ235
4 French Digestive Polyposis Cohorte Family Adenomatous Polyposis With APC and MYH Gene Mutations , Cowden's Disease With PTEN Gene Mutation, Peutz Jeghers Disease With STK 11 Gene Mutation ,juvénil Polyposis With SMAD 4 Gene Mutation , Serrated and Hyperpl Recruiting NCT01987518
5 Clinical, Genetic, Behavioral, Laboratory and Epidemiologic Characterization of Individuals and Families at High Risk of Breast/Ovarian Cancer Active, not recruiting NCT00040222

Search NIH Clinical Center for Cowden Syndrome 1

Genetic Tests for Cowden Syndrome 1

Genetic tests related to Cowden Syndrome 1:

id Genetic test Affiliating Genes
1 Cowden Syndrome 1 29
2 Lhermitte-Duclos Disease 29

Anatomical Context for Cowden Syndrome 1

MalaCards organs/tissues related to Cowden Syndrome 1:

39
Breast, Skin, Thyroid, Colon, Cerebellum, Cortex, B Cells

Publications for Cowden Syndrome 1

Variations for Cowden Syndrome 1

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

71 (show all 24)
id Symbol AA change Variation ID SNP ID
1 PTEN p.Ile67Arg VAR_007461
2 PTEN p.Tyr68His VAR_007462 rs398123317
3 PTEN p.His123Arg VAR_007463 rs121909222
4 PTEN p.Cys124Arg VAR_007464 rs121909223
5 PTEN p.Gly129Glu VAR_007465 rs121909218
6 PTEN p.Arg130Leu VAR_007467
7 PTEN p.Arg130Gln VAR_007468 rs121909229
8 PTEN p.Leu112Pro VAR_007807 rs121909230
9 PTEN p.Cys136Tyr VAR_007808 rs786204859
10 PTEN p.Met35Arg VAR_008036 rs121909225
11 PTEN p.Gly165Val VAR_008738 rs786204863
12 PTEN p.Gly165Glu VAR_008739
13 PTEN p.Lys289Glu VAR_008741 rs562015640
14 PTEN p.Val343Glu VAR_008742
15 PTEN p.Phe347Leu VAR_008743
16 PTEN p.Arg47Gly VAR_011587 rs786204855
17 PTEN p.Leu70Pro VAR_018102 rs121909226
18 PTEN p.Cys124Ser VAR_018104
19 PTEN p.Cys71Tyr VAR_026254
20 PTEN p.His93Tyr VAR_026255
21 PTEN p.Tyr155Cys VAR_026263
22 PTEN p.Asp331Gly VAR_026275
23 PTEN p.Phe341Val VAR_026276
24 PTEN p.Lys342Asn VAR_026277 rs398123314

ClinVar genetic disease variations for Cowden Syndrome 1:

6 (show top 50) (show all 91)
id Gene Variation Type Significance SNP ID Assembly Location
1 CD96 CD96, EXONIC BREAKPOINT undetermined variant Pathogenic
2 CD96 NM_198196.2(CD96): c.839C> T (p.Thr280Met) single nucleotide variant Pathogenic rs119477056 GRCh37 Chromosome 3, 111304209: 111304209
3 PTEN NM_000314.6(PTEN): c.386G> A (p.Gly129Glu) single nucleotide variant Pathogenic rs121909218 GRCh37 Chromosome 10, 89692902: 89692902
4 PTEN NM_000314.6(PTEN): c.697C> T (p.Arg233Ter) single nucleotide variant Pathogenic rs121909219 GRCh37 Chromosome 10, 89717672: 89717672
5 PTEN NM_000314.6(PTEN): c.469G> T (p.Glu157Ter) single nucleotide variant Pathogenic rs121909220 GRCh37 Chromosome 10, 89692985: 89692985
6 PTEN NM_000314.6(PTEN): c.368A> G (p.His123Arg) single nucleotide variant Pathogenic rs121909222 GRCh37 Chromosome 10, 89692884: 89692884
7 PTEN NM_000314.6(PTEN): c.370T> C (p.Cys124Arg) single nucleotide variant Pathogenic rs121909223 GRCh37 Chromosome 10, 89692886: 89692886
8 PTEN NM_000314.6(PTEN): c.347_351delACAAT (p.Asp116Alafs) deletion Pathogenic rs587776666 GRCh37 Chromosome 10, 89692863: 89692867
9 PTEN NM_000314.6(PTEN): c.388C> T (p.Arg130Ter) single nucleotide variant Pathogenic/Likely pathogenic rs121909224 GRCh37 Chromosome 10, 89692904: 89692904
10 PTEN NM_000314.6(PTEN): c.492+2T> G single nucleotide variant Pathogenic rs587776668 GRCh37 Chromosome 10, 89693010: 89693010
11 PTEN NM_000314.6(PTEN): c.696delA (p.Arg233Aspfs) deletion Pathogenic rs587776669 GRCh37 Chromosome 10, 89717671: 89717671
12 PTEN NM_000314.6(PTEN): c.104T> G (p.Met35Arg) single nucleotide variant Pathogenic rs121909225 GRCh37 Chromosome 10, 89653806: 89653806
13 PTEN NM_000314.6(PTEN): c.209T> C (p.Leu70Pro) single nucleotide variant Pathogenic rs121909226 GRCh37 Chromosome 10, 89685314: 89685314
14 PTEN NM_000314.6(PTEN): c.389G> A (p.Arg130Gln) single nucleotide variant Pathogenic/Likely pathogenic rs121909229 GRCh37 Chromosome 10, 89692905: 89692905
15 PTEN NM_000314.6(PTEN): c.335T> C (p.Leu112Pro) single nucleotide variant Pathogenic rs121909230 GRCh37 Chromosome 10, 89692851: 89692851
16 PTEN NM_000314.6(PTEN): c.1003C> T (p.Arg335Ter) single nucleotide variant Pathogenic/Likely pathogenic rs121909231 GRCh37 Chromosome 10, 89720852: 89720852
17 PTEN NM_000314.6(PTEN): c.40dupA (p.Arg14Lysfs) duplication Pathogenic rs587776671 GRCh38 Chromosome 10, 87864509: 87864509
18 PTEN PTEN, CYS124SER undetermined variant Pathogenic
19 PTEN NM_000314.6(PTEN): c.633C> A (p.Cys211Ter) single nucleotide variant Pathogenic rs121909232 GRCh37 Chromosome 10, 89712015: 89712015
20 PTEN NM_000314.6(PTEN): c.802delG (p.Asp268Thrfs) deletion Pathogenic rs587776672 GRCh37 Chromosome 10, 89720651: 89720651
21 PTEN NM_000314.6(PTEN): c.507delC (p.Ser170Valfs) deletion Pathogenic rs587776673 GRCh37 Chromosome 10, 89711889: 89711889
22 PTEN NM_000314.6(PTEN): c.-861G> T single nucleotide variant Pathogenic rs587776675 GRCh38 Chromosome 10, 87863608: 87863608
23 PTEN NM_000314.6(PTEN): c.395G> T (p.Gly132Val) single nucleotide variant Pathogenic/Likely pathogenic rs121909241 GRCh37 Chromosome 10, 89692911: 89692911
24 PTEN NM_000314.6(PTEN): c.955_958delACTT (p.Thr319Terfs) deletion Pathogenic rs146650273 GRCh37 Chromosome 10, 89720804: 89720807
25 PTEN NM_000314.6(PTEN): c.800delA (p.Lys267Argfs) deletion Pathogenic rs121913289 GRCh37 Chromosome 10, 89717775: 89717775
26 PTEN NM_000314.6(PTEN): c.338G> T (p.Ser113Ile) single nucleotide variant Pathogenic rs587781254 GRCh37 Chromosome 10, 89692854: 89692854
27 PTEN NM_000314.6(PTEN): c.379G> A (p.Gly127Arg) single nucleotide variant Pathogenic/Likely pathogenic rs587781255 GRCh37 Chromosome 10, 89692895: 89692895
28 PTEN NM_000314.6(PTEN): c.48T> A (p.Tyr16Ter) single nucleotide variant Pathogenic rs587782187 GRCh37 Chromosome 10, 89624274: 89624274
29 PTEN NM_000314.6(PTEN): c.968dupA (p.Asn323Lysfs) duplication Pathogenic/Likely pathogenic rs587783058 GRCh38 Chromosome 10, 87961060: 87961060
30 PTEN NM_000314.6(PTEN): c.781C> T (p.Gln261Ter) single nucleotide variant Pathogenic rs730882131 GRCh38 Chromosome 10, 87957999: 87957999
31 PTEN NM_000314.6(PTEN): c.406T> C (p.Cys136Arg) single nucleotide variant Pathogenic rs786201044 GRCh37 Chromosome 10, 89692922: 89692922
32 PTEN NM_000314.6(PTEN): c.733C> T (p.Gln245Ter) single nucleotide variant Pathogenic rs786202918 GRCh37 Chromosome 10, 89717708: 89717708
33 PTEN NM_000314.6(PTEN): c.49C> T (p.Gln17Ter) single nucleotide variant Pathogenic rs786204910 GRCh37 Chromosome 10, 89624275: 89624275
34 PTEN NM_000314.6(PTEN): c.182A> G (p.His61Arg) single nucleotide variant Pathogenic/Likely pathogenic rs398123316 GRCh37 Chromosome 10, 89685287: 89685287
35 PTEN NM_000314.6(PTEN): c.202T> C (p.Tyr68His) single nucleotide variant Pathogenic/Likely pathogenic rs398123317 GRCh37 Chromosome 10, 89685307: 89685307
36 PTEN NM_000314.6(PTEN): c.284C> T (p.Pro95Leu) single nucleotide variant Pathogenic rs786204856 GRCh38 Chromosome 10, 87933043: 87933043
37 PTEN NM_000314.6(PTEN): c.491delA (p.Lys164Argfs) deletion Pathogenic rs786204900 GRCh37 Chromosome 10, 89693007: 89693007
38 PTEN NM_000314.6(PTEN): c.511C> T (p.Gln171Ter) single nucleotide variant Pathogenic rs786204864 GRCh37 Chromosome 10, 89711893: 89711893
39 PTEN NM_000314.6(PTEN): c.517C> T (p.Arg173Cys) single nucleotide variant Pathogenic/Likely pathogenic rs121913293 GRCh37 Chromosome 10, 89711899: 89711899
40 PTEN NM_000314.6(PTEN): c.389delG (p.Arg130Glnfs) deletion Pathogenic rs121913292 GRCh37 Chromosome 10, 89692905: 89692905
41 PTEN NM_000314.6(PTEN): c.71A> G (p.Asp24Gly) single nucleotide variant Pathogenic rs797044910 GRCh37 Chromosome 10, 89624297: 89624297
42 PTEN NM_000314.6(PTEN): c.437T> G (p.Leu146Ter) single nucleotide variant Pathogenic rs786204933 GRCh38 Chromosome 10, 87933196: 87933196
43 PTEN NM_000314.6(PTEN): c.860C> G (p.Ser287Ter) single nucleotide variant Likely pathogenic rs863224909 GRCh38 Chromosome 10, 87960952: 87960952
44 PTEN NM_000314.6(PTEN): c.845delG (p.Gly282Aspfs) deletion Pathogenic rs864622451 GRCh37 Chromosome 10, 89720694: 89720694
45 PTEN NM_000314.6(PTEN): c.987_996dupTAAAGACAAA (p.Ala333Terfs) duplication Pathogenic rs864622387 GRCh37 Chromosome 10, 89720836: 89720845
46 PTEN NM_000314.6(PTEN): c.118G> T (p.Glu40Ter) single nucleotide variant Pathogenic rs869312778 GRCh38 Chromosome 10, 87894063: 87894063
47 PTEN NM_000314.6(PTEN): c.424delC (p.Arg142Glyfs) deletion Pathogenic rs869312779 GRCh38 Chromosome 10, 87933183: 87933183
48 PTEN NM_000314.6(PTEN): c.767_768delAG (p.Glu256Valfs) deletion Pathogenic rs869312780 GRCh38 Chromosome 10, 87957985: 87957986
49 PTEN NM_000314.6(PTEN): c.545dupT (p.Leu182Phefs) duplication Pathogenic rs878853941 GRCh37 Chromosome 10, 89711927: 89711927
50 PTEN NM_000314.6(PTEN): c.53delA (p.Glu18Glyfs) deletion Pathogenic rs878853940 GRCh38 Chromosome 10, 87864522: 87864522

Expression for Cowden Syndrome 1

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

Pathways for Cowden Syndrome 1

GO Terms for Cowden Syndrome 1

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

id Name GO ID Score Top Affiliating Genes
1 positive regulation of ERK1 and ERK2 cascade GO:0070374 9.32 EGFR PTEN
2 response to organic cyclic compound GO:0014070 9.26 EGFR PTEN
3 phosphatidylinositol-mediated signaling GO:0048015 9.16 EGFR PTEN
4 response to estradiol GO:0032355 8.96 EGFR PTEN
5 learning or memory GO:0007611 8.62 EGFR PTEN

Sources for Cowden Syndrome 1

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 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 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
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48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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