MCID: CWD006
MIFTS: 54

Cowden Syndrome 1

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

Aliases & Classifications for Cowden Syndrome 1

MalaCards integrated aliases for Cowden Syndrome 1:

Name: Cowden Syndrome 1 53 71 28 13
Lhermitte-Duclos Disease 55 71 69
Cs 53 71 3
Dysplastic Gangliocytoma of the Cerebellum 55 71
Cerebelloparenchymal Disorder Vi 71 69
Pten Hamartoma Tumor Syndrome 71 69
Multiple Hamartoma Syndrome 53 71
Cws1 53 71
Mham 53 71
Ldd 55 71
Cd 53 71
Cerebellar Granule Cell Hypertrophy and Megalencephaly 71
Multiple Hamartoma Syndrome; Mham 53
Hamartoma Syndrome, Multiple 69
Lhermitte-Duclos Syndrome 53
Proteus-Like Syndrome 55
Cohen-Hayden Syndrome 55
Cowden Disease 71
Cs; Cd 53
Phts 71
Cpd6 71

Characteristics:

Orphanet epidemiological data:

55
proteus-like syndrome
Inheritance: Autosomal dominant; Age of onset: Infancy,Neonatal;
lhermitte-duclos disease
Prevalence: <1/1000000 (Worldwide); Age of onset: Adult;

OMIM:

53
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:
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 cowden disease and proteus-like syndrome, and has symptoms including seizures, cataract 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 : 53 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 1 Cowden Syndrome 2
Cowden Syndrome 3 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 53)
# Related Disease Score Top Affiliating Genes
1 cowden disease 31.7 CD96 PTEN
2 proteus-like syndrome 12.6
3 proteus like syndrome mental retardation eye defect 12.2
4 bannayan-riley-ruvalcaba syndrome 11.6
5 chanarin-dorfman syndrome 11.5
6 xeroderma pigmentosum, complementation group d 11.5
7 xeroderma pigmentosum, complementation group f 11.5
8 xeroderma pigmentosum, complementation group g 11.5
9 xeroderma pigmentosum, complementation group b 11.5
10 epilepsy occipital calcifications 11.4
11 primary pigmented nodular adrenocortical disease 11.4
12 acth-independent macronodular adrenal hyperplasia 11.3
13 castleman disease 11.3
14 pten hamartoma tumor syndrome 11.2
15 cockayne syndrome 11.2
16 conduct disorder 11.2
17 gastric cancer 11.2
18 oppositional defiant disorder 11.2
19 conversion disorder 11.2
20 cockayne syndrome a 11.2
21 proteus syndrome 11.1
22 diabetes mellitus, noninsulin-dependent 11.1
23 intervertebral disc disease 10.9
24 neurofibromatosis, type iv, of riccardi 10.1
25 rett syndrome 10.1
26 leber congenital amaurosis 10.1
27 hypoxia 10.0
28 hemihyperplasia, isolated 9.8
29 arteriovenous malformation 9.8
30 lipomatosis 9.8
31 tumor suppressor gene on chromosome 11 9.8 EGFR PTEN
32 gliomatosis cerebri 9.8 EGFR PTEN
33 giant cell glioblastoma 9.8 EGFR PTEN
34 grade iii astrocytoma 9.8 EGFR PTEN
35 small cell carcinoma 9.8 EGFR PTEN
36 salivary gland cancer 9.8 EGFR PTEN
37 endometrial adenocarcinoma 9.8 EGFR PTEN
38 ovarian cancer 1 9.7 EGFR PTEN
39 female reproductive organ cancer 9.7 EGFR PTEN
40 li-fraumeni syndrome 9.7 EGFR PTEN
41 gliosarcoma 9.7 EGFR PTEN
42 reproductive organ cancer 9.7 EGFR PTEN
43 gastrointestinal system cancer 9.7 EGFR PTEN
44 cell type cancer 9.7 EGFR PTEN
45 oligodendroglioma 9.7 EGFR PTEN
46 brain cancer 9.7 EGFR PTEN
47 astrocytoma 9.6 EGFR PTEN
48 glioma 9.6 EGFR PTEN
49 malignant glioma 9.6 EGFR PTEN
50 kidney cancer 9.6 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:

53
Chest RibsSternum 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 Gastroin testinal:
colonic diverticula
hamartomatous polyps

Genitourinary External Genitalia Male:
varicocele
hydrocele

Head And Neck Ears:
hearing loss

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

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

Genitourinary External Genitalia Female:
vaginal cysts
vulvar cysts


Clinical features from OMIM:

158350

Human phenotypes related to Cowden Syndrome 1:

55 31 (show top 50) (show all 78)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 seizures 55 31 Very frequent (99-80%) HP:0001250
2 cataract 55 31 Frequent (79-30%) HP:0000518
3 myopia 55 31 Very frequent (99-80%) HP:0000545
4 subcutaneous lipoma 55 31 Very frequent (99-80%) HP:0001031
5 acrokeratosis 55 31 Frequent (79-30%) HP:0200016
6 ataxia 55 Very frequent (99-80%)
7 headache 55 Very frequent (99-80%)
8 nausea and vomiting 55 Very frequent (99-80%)
9 macrocephaly 55 Frequent (79-30%),Very frequent (99-80%)
10 pectus excavatum 31 HP:0000767
11 high palate 31 HP:0000218
12 hydrocephalus 55 Frequent (79-30%),Very frequent (99-80%)
13 hypothyroidism 31 HP:0000821
14 intellectual disability 55 Very frequent (99-80%)
15 scoliosis 31 HP:0002650
16 kyphosis 31 HP:0002808
17 macroglossia 55 Very frequent (99-80%)
18 mandibular prognathia 55 Frequent (79-30%)
19 hearing impairment 31 HP:0000365
20 splenomegaly 55 Occasional (29-5%)
21 increased intracranial pressure 55 Very frequent (99-80%)
22 skeletal dysplasia 55 Occasional (29-5%)
23 open bite 55 Very frequent (99-80%)
24 anteverted nares 55 Occasional (29-5%)
25 intellectual disability, mild 31 HP:0001256
26 cranial nerve paralysis 55 Very frequent (99-80%)
27 micrognathia 31 HP:0000347
28 exostoses 55 Frequent (79-30%)
29 dolichocephaly 55 Occasional (29-5%)
30 genu recurvatum 55 Very frequent (99-80%)
31 thyroiditis 31 HP:0100646
32 intention tremor 31 HP:0002080
33 hyperthyroidism 31 HP:0000836
34 goiter 31 HP:0000853
35 heterochromia iridis 55 Frequent (79-30%)
36 hypoplasia of the maxilla 31 HP:0000327
37 retinal detachment 55 Frequent (79-30%)
38 downslanted palpebral fissures 55 Occasional (29-5%)
39 polycystic ovaries 55 Occasional (29-5%)
40 irregular hyperpigmentation 55 Very frequent (99-80%)
41 narrow mouth 31 HP:0000160
42 hand polydactyly 55 Very frequent (99-80%)
43 abnormality of the vasculature 31 HP:0002597
44 abnormality of the pupil 55 Very frequent (99-80%)
45 thyroid adenoma 31 HP:0000854
46 hyperostosis 55 Very frequent (99-80%)
47 colonic diverticula 31 HP:0002253
48 gynecomastia 31 HP:0000771
49 breast carcinoma 31 HP:0003002
50 ovarian neoplasm 55 Frequent (79-30%)

UMLS symptoms related to Cowden Syndrome 1:


cerebellar ataxia, action tremor, seizures

Drugs & Therapeutics for Cowden Syndrome 1

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

(show all 11)
# 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 46835353 6436030 5284616
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:


# Name Status NCT ID Phase Drugs
1 Sirolimus to Treat Cowden Syndrome and Other PTEN Hamartomatous Tumor Syndromes Completed NCT00971789 Phase 2 sirolimus
2 A Phase I/II Study of BGT226 in Adult Patients With Advanced Solid Malignancies Including Patients With Advanced Breast Cancer Completed NCT00600275 Phase 1, Phase 2 BGT226
3 A Phase I/II Study of BEZ235 in Patients With Advanced Solid Malignancies Enriched by Patients With Advanced Breast Cancer Completed NCT00620594 Phase 1 BEZ235
4 Clinical, Genetic, Behavioral, Laboratory and Epidemiologic Characterization of Individuals and Families at High Risk of Breast/Ovarian Cancer Completed NCT00040222
5 French Digestive Polyposis Cohorte Family Adenomatous Polyposis With APC and MYH Gene Mutations , Cowden's Disease With PTEN Gene Mutation, Peutz Jeghers Disease With STK 11 Gene Mutation ,juvénil Polyposis With SMAD 4 Gene Mutation , Serrated and Hyperpl Recruiting NCT01987518

Search NIH Clinical Center for Cowden Syndrome 1

Genetic Tests for Cowden Syndrome 1

Genetic tests related to Cowden Syndrome 1:

# Genetic test Affiliating Genes
1 Cowden Syndrome 1 28 PTEN

Anatomical Context for Cowden Syndrome 1

MalaCards organs/tissues related to Cowden Syndrome 1:

38
Breast, Skin, Thyroid, Colon, Cerebellum, Cortex, B Cells

Publications for Cowden Syndrome 1

Articles related to Cowden Syndrome 1:

(show top 50) (show all 58)
# Title Authors Year
1
Lhermitte-Duclos Disease (Dysplastic Gangliocytoma of the Cerebellum) and Cowden Syndrome: Clinical Experience From a Single Institution with Long-Term Follow-Up. ( 28479525 )
2017
2
Lhermitte-Duclos Disease and Cerebellar Gangliocytoma-An Incidental Finding in a Patient with Gradual Vision Loss. ( 28512508 )
2017
3
Management of unusual dysplastic gangliocytoma of the cerebellum (Lhermitte-Duclos disease) in a developing country: Case report and review of the literature. ( 27057227 )
2016
4
PTEN inactivation by germline/somatic c.950_953delTACT mutation in patients with Lhermitte-Duclos disease manifesting progressive phenotypes. ( 24102544 )
2014
5
Dysplastic cerebellar gangliocytoma lhermitte-duclos disease imaging and magnetic resonance spectroscopy. ( 25369219 )
2014
6
Association of Lhermitte-Duclos disease and split cord malformation in a child. ( 24938384 )
2014
7
Lhermitte-Duclos disease with obstructive hydrocephalus: An illustrative case treated with endoscopic ventriculo-cisternostomy. ( 24128882 )
2013
8
Infiltrating medulloblastoma in a child mimicking Lhermitte-Duclos disease. ( 23248708 )
2012
9
Unusual presentation in adult medulloblastomas: imaging features mimicking cerebellar dysplastic gangliocytoma (Lhermitte-Duclos disease). ( 23135053 )
2012
10
Lhermitte-Duclos disease (dysplastic gangliocytoma of the cerebellum) as a component of Cowden syndrome. ( 22499315 )
2012
11
Lhermitte-Duclos disease associated with dysembryoplastic neuroepithelial tumor differentiation with characteristic magnetic resonance appearance of "tiger striping". ( 21704939 )
2011
12
Assessing a dysplastic cerebellar gangliocytoma (Lhermitte-Duclos disease) with 7T MR imaging. ( 20191074 )
2010
13
Postoperative cerebellar mutism in adult patients with Lhermitte-Duclos disease. ( 20668902 )
2010
14
Cancer and Lhermitte-Duclos disease are common in Cowden syndrome patients. ( 20565722 )
2010
15
Case 144: Dysplastic cerebellar gangliocytoma (Lhermitte-Duclos disease). ( 19332858 )
2009
16
Adult medulloblastoma mimicking Lhermitte-Duclos disease: can diffusion weighted imaging help? ( 19439857 )
2009
17
Lhermitte-Duclos disease with atypical vascularization--case report and review of the literature. ( 19353838 )
2009
18
Intramedullary ependymoma associated with Lhermitte-Duclos disease and Cowden syndrome. ( 17544575 )
2007
19
Ectopic recurrence of dysplastic gangliocytoma of the cerebellum (Lhermitte-Duclos disease): a case report. ( 18095141 )
2007
20
Lhermitte-duclos disease with syringomyelia. A report of two cases. ( 24299673 )
2007
21
Dysplastic gangliocytoma of the cerebellum (Lhermitte-Duclos disease). ( 16934474 )
2006
22
Cowden disease and Lhermitte-Duclos disease: an update. Case report and review of the literature. ( 16459996 )
2006
23
Lhermitte-Duclos disease (dysplastic cerebellar gangliocytoma). ( 15670528 )
2005
24
Lhermitte-Duclos disease associated with neurofibromatosis type-1 and non-ossifying fibroma. ( 15841746 )
2005
25
Lhermitte-Duclos disease and Cowden disease: clinical and genetic study in five patients with Lhermitte-Duclos disease and literature review. ( 15197611 )
2004
26
Radiology case of the month. Gait disturbance. Lhermitte-Duclos disease (dysplastic gangliocytoma of the cerebellum). ( 15554090 )
2004
27
Association between Cowden syndrome and Lhermitte-Duclos disease: report of two cases and review of the literature. ( 15120218 )
2004
28
Cowden disease with Lhermitte-Duclos disease: case report. ( 15595264 )
2004
29
De novo germline PTEN mutation in a man with Lhermitte-Duclos disease which arose on the paternal chromosome and was transmitted to his child with polydactyly and Wormian bones. ( 12920084 )
2003
30
Germline inactivation of PTEN and dysregulation of the phosphoinositol-3-kinase/Akt pathway cause human Lhermitte-Duclos disease in adults. ( 14566704 )
2003
31
Lhermitte-Duclos disease (dysplastic cerebellar gangliocytoma): a malformation, hamartoma or neoplasm? ( 11886354 )
2002
32
Medulloblastoma or cerebellar dysplastic gangliocytoma (Lhermitte-Duclos disease)? ( 12504212 )
2002
33
Pten regulates neuronal soma size: a mouse model of Lhermitte-Duclos disease. ( 11726927 )
2001
34
Deletion of Pten in mouse brain causes seizures, ataxia and defects in soma size resembling Lhermitte-Duclos disease. ( 11726926 )
2001
35
Lhermitte-Duclos disease (Dysplastic gangliocytoma of the cerebellum). ( 11516554 )
2001
36
Lhermitte duclos disease and Cowden disease: clinical, pathological and neuroimaging study of a case. ( 11327294 )
2000
37
Cowden disease and Lhermitte-Duclos disease: characterization of a new phakomatosis. ( 10690726 )
2000
38
Dysplastic gangliocytoma (Lhermitte-Duclos disease) associated with Cowden disease: report of a case and review of the literature for the genetic relationship between the two diseases. ( 10222433 )
1999
39
Cowden disease and Lhermitte Duclos disease, markers of breast carcinoma: report of two patients. ( 10586343 )
1999
40
Severe Lhermitte-Duclos disease with unique germline mutation of PTEN. ( 10051160 )
1999
41
Lhermitte-Duclos disease associated with Cowden disease. ( 9384805 )
1997
42
Lhermitte-Duclos disease (cerebellar gangliocytoma). ( 8969359 )
1996
43
Malignant occipital astrocytoma in a patient with Lhermitte-Duclos disease (cerebellar dysplastic gangliocytoma). ( 8672269 )
1996
44
Dysplastic gangliocytoma of the cerebellum (Lhermitte-Duclos disease). ( 7656495 )
1995
45
The striated cerebellum: an MR imaging sign in Lhermitte-Duclos disease (dysplastic gangliocytoma). ( 7862965 )
1995
46
Dysplastic gangliocytoma of the cerebellum (Lhermitte-Duclos disease) and its relation to the multiple hamartoma syndrome (Cowden disease). ( 7964980 )
1994
47
Immunohistochemical study in two cases of dysplastic gangliocytoma of cerebellum (Lhermitte-Duclos disease). ( 7889336 )
1994
48
Recurrent dysplastic cerebellar gangliocytoma (Lhermitte-Duclos disease) presenting with subarachnoid haemorrhage. ( 1590970 )
1992
49
Lhermitte-Duclos disease and Cowden disease: a third case. ( 1642466 )
1992
50
Dysplastic gangliocytoma (Lhermitte-Duclos disease): CT and MR imaging. ( 1408448 )
1992

Variations for Cowden Syndrome 1

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

71 (show all 24)
# 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 139)
# Gene Variation Type Significance SNP ID Assembly Location
1 PTEN NM_000314.6(PTEN): c.389G> A (p.Arg130Gln) single nucleotide variant Pathogenic/Likely pathogenic rs121909229 GRCh38 Chromosome 10, 87933148: 87933148
2 PTEN NM_000314.6(PTEN): c.335T> C (p.Leu112Pro) single nucleotide variant Pathogenic rs121909230 GRCh37 Chromosome 10, 89692851: 89692851
3 PTEN NM_000314.6(PTEN): c.1003C> T (p.Arg335Ter) single nucleotide variant Pathogenic/Likely pathogenic rs121909231 GRCh37 Chromosome 10, 89720852: 89720852
4 PTEN NM_000314.6(PTEN): c.40dupA (p.Arg14Lysfs) duplication Pathogenic rs587776671 GRCh38 Chromosome 10, 87864509: 87864509
5 PTEN NM_000314.6(PTEN): c.633C> A (p.Cys211Ter) single nucleotide variant Pathogenic rs121909232 GRCh37 Chromosome 10, 89712015: 89712015
6 PTEN NM_000314.6(PTEN): c.802delG (p.Asp268Thrfs) deletion Pathogenic rs587776672 GRCh37 Chromosome 10, 89720651: 89720651
7 PTEN NM_000314.6(PTEN): c.701G> A (p.Arg234Gln) single nucleotide variant risk factor rs121909235 GRCh37 Chromosome 10, 89717676: 89717676
8 PTEN NM_000314.6(PTEN): c.507delC (p.Ser170Valfs) deletion Pathogenic rs587776673 GRCh37 Chromosome 10, 89711889: 89711889
9 PTEN NM_000314.6(PTEN): c.-861G> T single nucleotide variant Pathogenic rs587776675 GRCh38 Chromosome 10, 87863608: 87863608
10 PTEN NM_000314.6(PTEN): c.395G> T (p.Gly132Val) single nucleotide variant Pathogenic/Likely pathogenic rs121909241 GRCh37 Chromosome 10, 89692911: 89692911
11 PTEN NM_000314.6(PTEN): c.955_958delACTT (p.Thr319Terfs) deletion Pathogenic rs146650273 GRCh37 Chromosome 10, 89720804: 89720807
12 PTEN NM_000314.6(PTEN): c.800delA (p.Lys267Argfs) deletion Pathogenic rs121913289 GRCh37 Chromosome 10, 89717775: 89717775
13 PTEN NM_000314.6(PTEN): c.338G> T (p.Ser113Ile) single nucleotide variant Pathogenic rs587781254 GRCh37 Chromosome 10, 89692854: 89692854
14 PTEN NM_000314.6(PTEN): c.379G> A (p.Gly127Arg) single nucleotide variant Pathogenic/Likely pathogenic rs587781255 GRCh37 Chromosome 10, 89692895: 89692895
15 PTEN NM_000314.6(PTEN): c.493-2A> G single nucleotide variant Pathogenic rs587781784 GRCh37 Chromosome 10, 89711873: 89711873
16 PTEN NM_000314.6(PTEN): c.48T> A (p.Tyr16Ter) single nucleotide variant Pathogenic rs587782187 GRCh37 Chromosome 10, 89624274: 89624274
17 PTEN NM_000314.6(PTEN): c.741dup (p.Pro248Thrfs) duplication Pathogenic rs587782341 GRCh37 Chromosome 10, 89717716: 89717716
18 PTEN NM_000314.6(PTEN): c.802-2A> T single nucleotide variant Pathogenic rs587782455 GRCh37 Chromosome 10, 89720649: 89720649
19 PTEN NM_000314.6(PTEN): c.968dupA (p.Asn323Lysfs) duplication Pathogenic/Likely pathogenic rs587783058 GRCh38 Chromosome 10, 87961060: 87961060
20 PTEN NM_000314.6(PTEN): c.781C> T (p.Gln261Ter) single nucleotide variant Pathogenic rs730882131 GRCh38 Chromosome 10, 87957999: 87957999
21 PTEN NM_000314.6(PTEN): c.406T> C (p.Cys136Arg) single nucleotide variant Pathogenic rs786201044 GRCh37 Chromosome 10, 89692922: 89692922
22 PTEN NM_000314.6(PTEN): c.733C> T (p.Gln245Ter) single nucleotide variant Pathogenic rs786202918 GRCh37 Chromosome 10, 89717708: 89717708
23 PTEN NM_000314.6(PTEN): c.1026+1G> A single nucleotide variant Pathogenic/Likely pathogenic rs786201041 GRCh37 Chromosome 10, 89720876: 89720876
24 PTEN NM_000314.6(PTEN): c.49C> T (p.Gln17Ter) single nucleotide variant Pathogenic rs786204910 GRCh37 Chromosome 10, 89624275: 89624275
25 PTEN NM_000314.6(PTEN): c.182A> G (p.His61Arg) single nucleotide variant Pathogenic/Likely pathogenic rs398123316 GRCh37 Chromosome 10, 89685287: 89685287
26 PTEN NM_000314.6(PTEN): c.202T> C (p.Tyr68His) single nucleotide variant Pathogenic/Likely pathogenic rs398123317 GRCh37 Chromosome 10, 89685307: 89685307
27 PTEN NM_000314.6(PTEN): c.253+1G> T single nucleotide variant Pathogenic rs587776667 GRCh37 Chromosome 10, 89690847: 89690847
28 PTEN NM_000314.6(PTEN): c.284C> T (p.Pro95Leu) single nucleotide variant Pathogenic rs786204856 GRCh38 Chromosome 10, 87933043: 87933043
29 PTEN NM_000314.6(PTEN): c.367C> T (p.His123Tyr) single nucleotide variant Pathogenic/Likely pathogenic rs786204931 GRCh37 Chromosome 10, 89692883: 89692883
30 PTEN NM_000314.6(PTEN): c.407G> A (p.Cys136Tyr) single nucleotide variant Pathogenic rs786204859 GRCh37 Chromosome 10, 89692923: 89692923
31 PTEN NM_000314.6(PTEN): c.491delA (p.Lys164Argfs) deletion Pathogenic rs786204900 GRCh37 Chromosome 10, 89693007: 89693007
32 PTEN NM_000314.6(PTEN): c.511C> T (p.Gln171Ter) single nucleotide variant Pathogenic rs786204864 GRCh37 Chromosome 10, 89711893: 89711893
33 PTEN NM_000314.6(PTEN): c.517C> T (p.Arg173Cys) single nucleotide variant Pathogenic/Likely pathogenic rs121913293 GRCh37 Chromosome 10, 89711899: 89711899
34 PTEN NM_000314.6(PTEN): c.758_761delTCAA (p.Ile253Lysfs) deletion Pathogenic rs786204903 GRCh37 Chromosome 10, 89717733: 89717736
35 PTEN NM_000314.6(PTEN): c.802-2A> G single nucleotide variant Pathogenic/Likely pathogenic rs587782455 GRCh38 Chromosome 10, 87960892: 87960892
36 PTEN NM_000314.6(PTEN): c.1026+1G> C single nucleotide variant Pathogenic/Likely pathogenic rs786201041 GRCh37 Chromosome 10, 89720876: 89720876
37 PTEN NM_000314.6(PTEN): c.389delG (p.Arg130Glnfs) deletion Pathogenic rs121913292 GRCh37 Chromosome 10, 89692905: 89692905
38 CD96 CD96, EXONIC BREAKPOINT undetermined variant Pathogenic
39 CD96 NM_198196.2(CD96): c.839C> T (p.Thr280Met) single nucleotide variant Pathogenic rs119477056 GRCh37 Chromosome 3, 111304209: 111304209
40 PTEN PTEN, CYS124SER undetermined variant Pathogenic
41 PTEN NM_000314.6(PTEN): c.386G> A (p.Gly129Glu) single nucleotide variant Pathogenic rs121909218 GRCh37 Chromosome 10, 89692902: 89692902
42 PTEN NM_000314.6(PTEN): c.697C> T (p.Arg233Ter) single nucleotide variant Pathogenic rs121909219 GRCh37 Chromosome 10, 89717672: 89717672
43 PTEN NM_000314.6(PTEN): c.469G> T (p.Glu157Ter) single nucleotide variant Pathogenic rs121909220 GRCh37 Chromosome 10, 89692985: 89692985
44 PTEN NM_000314.6(PTEN): c.368A> G (p.His123Arg) single nucleotide variant Pathogenic rs121909222 GRCh37 Chromosome 10, 89692884: 89692884
45 PTEN NM_000314.6(PTEN): c.370T> C (p.Cys124Arg) single nucleotide variant Pathogenic rs121909223 GRCh37 Chromosome 10, 89692886: 89692886
46 PTEN NM_000314.6(PTEN): c.347_351delACAAT (p.Asp116Alafs) deletion Pathogenic rs587776666 GRCh37 Chromosome 10, 89692863: 89692867
47 PTEN NM_000314.6(PTEN): c.388C> T (p.Arg130Ter) single nucleotide variant Pathogenic/Likely pathogenic rs121909224 GRCh37 Chromosome 10, 89692904: 89692904
48 PTEN NM_000314.6(PTEN): c.253+1G> A single nucleotide variant Pathogenic/Likely pathogenic rs587776667 GRCh37 Chromosome 10, 89690847: 89690847
49 PTEN NM_000314.6(PTEN): c.492+2T> G single nucleotide variant Pathogenic rs587776668 GRCh37 Chromosome 10, 89693010: 89693010
50 PTEN NM_000314.6(PTEN): c.696delA (p.Arg233Aspfs) deletion Pathogenic rs587776669 GRCh37 Chromosome 10, 89717671: 89717671

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:

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

Sources for Cowden Syndrome 1

3 CDC
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10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
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65 SNOMED-CT via HPO
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67 TGDB
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70 UMLS via Orphanet
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