MCID: CWD006
MIFTS: 55

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 57 75 29 13 6
Lhermitte-Duclos Disease 59 75 73
Cs 57 75 3
Dysplastic Gangliocytoma of the Cerebellum 59 75
Cerebelloparenchymal Disorder Vi 75 73
Pten Hamartoma Tumor Syndrome 75 73
Multiple Hamartoma Syndrome 57 75
Cws1 57 75
Mham 57 75
Ldd 59 75
Cd 57 75
Cerebellar Granule Cell Hypertrophy and Megalencephaly 75
Multiple Hamartoma Syndrome; Mham 57
Hamartoma Syndrome, Multiple 73
Lhermitte-Duclos Syndrome 57
Proteus-Like Syndrome 59
Cohen-Hayden Syndrome 59
Cowden Disease 75
Cs; Cd 57
Phts 75
Cpd6 75

Characteristics:

Orphanet epidemiological data:

59
proteus-like syndrome
Inheritance: Autosomal dominant; Age of onset: Infancy,Neonatal;
lhermitte-duclos disease
Prevalence: <1/1000000 (Worldwide); Age of onset: Adult;

OMIM:

57
Inheritance:
autosomal dominant

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


HPO:

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


Classifications:



Summaries for Cowden Syndrome 1

UniProtKB/Swiss-Prot : 75 Cowden syndrome 1: An autosomal dominant hamartomatous polyposis syndrome with age- related penetrance. Cowden syndrome is characterized by hamartomatous lesions affecting derivatives of ectodermal, mesodermal and endodermal layers, macrocephaly, facial trichilemmomas (benign tumors of the hair follicle infundibulum), acral keratoses, papillomatous papules, and elevated risk for development of several types of malignancy, particularly breast carcinoma in women and thyroid carcinoma in both men and women. Colon cancer and renal cell carcinoma have also been reported. Hamartomas can be found in virtually every organ, but most commonly in the skin, gastrointestinal tract, breast and thyroid. Lhermitte-Duclos disease: A rare disease characterized by the occurrence of a slowly enlarging mass within the cerebellar cortex corresponding histologically to a cerebellar hamartoma. It manifests, most commonly in the third and fourth decades of life, with increased intracranial pressure, headache, nausea, cerebellar dysfunction, occlusive hydrocephalus, ataxia, visual disturbances and other cranial nerve palsies. Various associated abnormalities may be present such as megalencephaly, microgyria, hydromyelia, polydactyly, partial gigantism, macroglossia. LDD is part of the PTEN hamartoma tumor syndromes spectrum that also includes Cowden syndrome.

MalaCards based summary : Cowden Syndrome 1, also known as lhermitte-duclos disease, is related to pten hamartoma tumor syndrome and cowden disease, 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 VEGF Signaling Pathway and EGF/EGFR Signaling Pathway. The drugs Everolimus and Miconazole have been mentioned in the context of this disorder. Affiliated tissues include breast, cerebellum and skin, and related phenotypes are seizures and cataract

OMIM : 57 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)

CDC : 3 Bromobenzylcyanide (CA), Chloroacetophenone (CN), Chlorobenzylidenemalononitrile (CS), Chloropicrin (PS), Dibenzoxazepine (CR)

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 116)
# Related Disease Score Top Affiliating Genes
1 pten hamartoma tumor syndrome 31.4 KLLN PTEN
2 cowden disease 30.9 KLLN PTEN
3 proteus-like syndrome 12.6
4 proteus like syndrome mental retardation eye defect 12.2
5 cockayne syndrome 11.7
6 bannayan-riley-ruvalcaba syndrome 11.6
7 chanarin-dorfman syndrome 11.5
8 xeroderma pigmentosum, complementation group d 11.5
9 xeroderma pigmentosum, complementation group f 11.5
10 xeroderma pigmentosum, complementation group g 11.5
11 xeroderma pigmentosum, complementation group b 11.5
12 epilepsy occipital calcifications 11.4
13 primary pigmented nodular adrenocortical disease 11.3
14 acth-independent macronodular adrenal hyperplasia 11.3
15 castleman disease 11.3
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 11.1
21 diabetes mellitus, noninsulin-dependent 11.1
22 myopathy 11.1
23 mucopolysaccharidosis, type vii 11.1
24 body mass index quantitative trait locus 11 11.0
25 carnitine palmitoyltransferase ii deficiency, infantile 11.0
26 cerebral creatine deficiency syndrome 2 11.0
27 cerebral creatine deficiency syndrome 11.0
28 neuroretinitis 11.0
29 bartonellosis 11.0
30 cat-scratch disease 11.0
31 critical illness polyneuropathy 11.0
32 leber hereditary optic neuropathy 11.0
33 cerebrooculofacioskeletal syndrome 1 11.0
34 crisponi/cold-induced sweating syndrome 1 11.0
35 intervertebral disc disease 10.9
36 crouzon syndrome 10.9
37 mitochondrial disorders 10.8
38 proteus syndrome 10.8
39 childhood apraxia of speech 10.8
40 rett syndrome 10.1
41 leber congenital amaurosis 10.1
42 gliomatosis cerebri 10.0 EGFR PTEN
43 giant cell glioblastoma 10.0 EGFR PTEN
44 small cell carcinoma 10.0 EGFR PTEN
45 salivary gland cancer 10.0 EGFR PTEN
46 endometrial adenocarcinoma 10.0 EGFR PTEN
47 grade iii astrocytoma 10.0 EGFR PTEN
48 female reproductive organ cancer 10.0 EGFR PTEN
49 chordoma 10.0 EGFR PTEN
50 conn's syndrome 10.0

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



Diseases related to Cowden Syndrome 1

Symptoms & Phenotypes for Cowden Syndrome 1

Symptoms via clinical synopsis from OMIM:

57
Chest Ribs Sternum Clavicles And Scapulae:
pectus excavatum

Skeletal Spine:
scoliosis
kyphosis

Neurologic Central Nervous System:
intention tremor
seizure
lhermitte-duclos disease
mental retardation, mild to moderate (in 12%)
psychomotor delay, mild to moderate
more
Neoplasia:
meningioma
transitional cell carcinoma of the bladder
ovarian carcinoma
breast cancer
cervical carcinoma
more
Head And Neck Head:
progressive macrocephaly

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

Skin Nails Hair Skin:
subcutaneous lipomas
multiple facial papules
acral keratoses
palmoplantar keratoses
multiple skin tags
more
Head And Neck Face:
'birdlike' facies (uncommon)
hypoplastic mandible (uncommon)
hypoplastic maxilla (uncommon)

Chest Breasts:
virginal hyperplasia
fibrocystic breast disease
gynecomastia in males
breast fibroadenomas

Genitourinary Internal Genitalia Female:
ovarian cysts
leiomyomas

Endocrine Features:
hypothyroidism
thyroiditis
hyperthyroidism
goiter
thyroid adenoma
more
Head And Neck Eyes:
cataract
myopia
angioid streaks

Abdomen Gastrointestinal:
colonic diverticula
hamartomatous polyps

Genitourinary External Genitalia Male:
varicocele
hydrocele

Head And Neck Ears:
hearing loss

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

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

Genitourinary External Genitalia Female:
vaginal cysts
vulvar cysts


Clinical features from OMIM:

158350

Human phenotypes related to Cowden Syndrome 1:

59 32 (show top 50) (show all 81)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 seizures 59 32 Very frequent (99-80%) HP:0001250
2 cataract 59 32 Frequent (79-30%) HP:0000518
3 myopia 59 32 Very frequent (99-80%) HP:0000545
4 subcutaneous lipoma 59 32 Very frequent (99-80%) HP:0001031
5 acrokeratosis 59 32 Frequent (79-30%) HP:0200016
6 macrocephaly 59 Frequent (79-30%),Very frequent (99-80%)
7 pectus excavatum 32 HP:0000767
8 high palate 32 HP:0000218
9 hydrocephalus 59 Frequent (79-30%),Very frequent (99-80%)
10 hypothyroidism 32 HP:0000821
11 intellectual disability 59 Very frequent (99-80%)
12 ataxia 59 Very frequent (99-80%)
13 nausea and vomiting 59 Very frequent (99-80%)
14 scoliosis 32 HP:0002650
15 kyphosis 32 HP:0002808
16 macroglossia 59 Very frequent (99-80%)
17 mandibular prognathia 59 Frequent (79-30%)
18 hearing impairment 32 HP:0000365
19 global developmental delay 32 HP:0001263
20 splenomegaly 59 Occasional (29-5%)
21 increased intracranial pressure 59 Very frequent (99-80%)
22 skeletal dysplasia 59 Occasional (29-5%)
23 open bite 59 Very frequent (99-80%)
24 anteverted nares 59 Occasional (29-5%)
25 intellectual disability, mild 32 HP:0001256
26 cranial nerve paralysis 59 Very frequent (99-80%)
27 micrognathia 32 HP:0000347
28 exostoses 59 Frequent (79-30%)
29 dolichocephaly 59 Occasional (29-5%)
30 genu recurvatum 59 Very frequent (99-80%)
31 thyroiditis 32 HP:0100646
32 intention tremor 32 HP:0002080
33 hyperthyroidism 32 HP:0000836
34 goiter 32 HP:0000853
35 heterochromia iridis 59 Frequent (79-30%)
36 hypoplasia of the maxilla 32 HP:0000327
37 retinal detachment 59 Frequent (79-30%)
38 downslanted palpebral fissures 59 Occasional (29-5%)
39 polycystic ovaries 59 Occasional (29-5%)
40 irregular hyperpigmentation 59 Very frequent (99-80%)
41 narrow mouth 32 HP:0000160
42 hand polydactyly 59 Very frequent (99-80%)
43 abnormality of the vasculature 32 HP:0002597
44 abnormality of the pupil 59 Very frequent (99-80%)
45 thyroid adenoma 32 HP:0000854
46 hyperostosis 59 Very frequent (99-80%)
47 colonic diverticula 32 HP:0002253
48 gynecomastia 32 HP:0000771
49 breast carcinoma 32 HP:0003002
50 ovarian neoplasm 59 Frequent (79-30%)

UMLS symptoms related to Cowden Syndrome 1:


seizures, action tremor, cerebellar ataxia

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 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:


# 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 29 PTEN

Anatomical Context for Cowden Syndrome 1

MalaCards organs/tissues related to Cowden Syndrome 1:

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

Publications for Cowden Syndrome 1

Articles related to Cowden Syndrome 1:

(show top 50) (show all 63)
# Title Authors Year
1
Childhood Lhermitte-Duclos disease progressing to medulloblastoma in bilateral cerebellar hemispheres: report of an unusual case. ( 29966776 )
2018
2
Lhermitte-Duclos Disease (Dysplastic Gangliocytoma of the Cerebellum) and Cowden Syndrome: Clinical Experience From a Single Institution with Long-Term Follow-Up. ( 28479525 )
2017
3
Lhermitte-Duclos Disease and Cerebellar Gangliocytoma-An Incidental Finding in a Patient with Gradual Vision Loss. ( 28512508 )
2017
4
Management of unusual dysplastic gangliocytoma of the cerebellum (Lhermitte-Duclos disease) in a developing country: Case report and review of the literature. ( 27057227 )
2016
5
Dysphagia and Neck Swelling in a Case of Undiagnosed Lhermitte-Duclos Disease and Cowden Syndrome. ( 26448889 )
2015
6
Association of Lhermitte-Duclos disease and split cord malformation in a child. ( 24938384 )
2014
7
Dysplastic cerebellar gangliocytoma lhermitte-duclos disease imaging and magnetic resonance spectroscopy. ( 25369219 )
2014
8
PTEN inactivation by germline/somatic c.950_953delTACT mutation in patients with Lhermitte-Duclos disease manifesting progressive phenotypes. ( 24102544 )
2014
9
Lhermitte-Duclos disease with obstructive hydrocephalus: An illustrative case treated with endoscopic ventriculo-cisternostomy. ( 24128882 )
2013
10
Infiltrating medulloblastoma in a child mimicking Lhermitte-Duclos disease. ( 23248708 )
2012
11
Unusual presentation in adult medulloblastomas: imaging features mimicking cerebellar dysplastic gangliocytoma (Lhermitte-Duclos disease). ( 23135053 )
2012
12
Lhermitte-Duclos disease (dysplastic gangliocytoma of the cerebellum) as a component of Cowden syndrome. ( 22499315 )
2012
13
Lhermitte-Duclos disease associated with dysembryoplastic neuroepithelial tumor differentiation with characteristic magnetic resonance appearance of &amp;quot;tiger striping&amp;quot;. ( 21704939 )
2011
14
Assessing a dysplastic cerebellar gangliocytoma (Lhermitte-Duclos disease) with 7T MR imaging. ( 20191074 )
2010
15
Postoperative cerebellar mutism in adult patients with Lhermitte-Duclos disease. ( 20668902 )
2010
16
Cancer and Lhermitte-Duclos disease are common in Cowden syndrome patients. ( 20565722 )
2010
17
Adult medulloblastoma mimicking Lhermitte-Duclos disease: can diffusion weighted imaging help? ( 19439857 )
2009
18
Case 144: Dysplastic cerebellar gangliocytoma (Lhermitte-Duclos disease). ( 19332858 )
2009
19
Lhermitte-Duclos disease with atypical vascularization--case report and review of the literature. ( 19353838 )
2009
20
Ectopic recurrence of dysplastic gangliocytoma of the cerebellum (Lhermitte-Duclos disease): a case report. ( 18095141 )
2007
21
Intramedullary ependymoma associated with Lhermitte-Duclos disease and Cowden syndrome. ( 17544575 )
2007
22
Lhermitte-duclos disease with syringomyelia. A report of two cases. ( 24299673 )
2007
23
Cowden disease and Lhermitte-Duclos disease: an update. Case report and review of the literature. ( 16459996 )
2006
24
Dysplastic gangliocytoma of the cerebellum (Lhermitte-Duclos disease). ( 16934474 )
2006
25
Lhermitte-Duclos disease associated with neurofibromatosis type-1 and non-ossifying fibroma. ( 15841746 )
2005
26
Lhermitte-Duclos disease (dysplastic cerebellar gangliocytoma). ( 15670528 )
2005
27
Radiology case of the month. Gait disturbance. Lhermitte-Duclos disease (dysplastic gangliocytoma of the cerebellum). ( 15554090 )
2004
28
Lhermitte-Duclos disease and Cowden disease: clinical and genetic study in five patients with Lhermitte-Duclos disease and literature review. ( 15197611 )
2004
29
Association between Cowden syndrome and Lhermitte-Duclos disease: report of two cases and review of the literature. ( 15120218 )
2004
30
Cowden disease with Lhermitte-Duclos disease: case report. ( 15595264 )
2004
31
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
32
Germline inactivation of PTEN and dysregulation of the phosphoinositol-3-kinase/Akt pathway cause human Lhermitte-Duclos disease in adults. ( 14566704 )
2003
33
Medulloblastoma or cerebellar dysplastic gangliocytoma (Lhermitte-Duclos disease)? ( 12504212 )
2002
34
Lhermitte-Duclos disease (dysplastic cerebellar gangliocytoma): a malformation, hamartoma or neoplasm? ( 11886354 )
2002
35
Lhermitte-Duclos disease (Dysplastic gangliocytoma of the cerebellum). ( 11516554 )
2001
36
Deletion of Pten in mouse brain causes seizures, ataxia and defects in soma size resembling Lhermitte-Duclos disease. ( 11726926 )
2001
37
Pten regulates neuronal soma size: a mouse model of Lhermitte-Duclos disease. ( 11726927 )
2001
38
Cowden disease and Lhermitte-Duclos disease: characterization of a new phakomatosis. ( 10690726 )
2000
39
Lhermitte duclos disease and Cowden disease: clinical, pathological and neuroimaging study of a case. ( 11327294 )
2000
40
Severe Lhermitte-Duclos disease with unique germline mutation of PTEN. ( 10051160 )
1999
41
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
42
Cowden disease and Lhermitte Duclos disease, markers of breast carcinoma: report of two patients. ( 10586343 )
1999
43
Lhermitte-Duclos disease associated with Cowden disease. ( 9384805 )
1997
44
Malignant occipital astrocytoma in a patient with Lhermitte-Duclos disease (cerebellar dysplastic gangliocytoma). ( 8672269 )
1996
45
Lhermitte-Duclos disease (cerebellar gangliocytoma). ( 8969359 )
1996
46
Lhermitte-Duclos disease and giant meningioma as manifestations of Cowden's disease. ( 8605738 )
1995
47
The striated cerebellum: an MR imaging sign in Lhermitte-Duclos disease (dysplastic gangliocytoma). ( 7862965 )
1995
48
Dysplastic gangliocytoma of the cerebellum (Lhermitte-Duclos disease). ( 7656495 )
1995
49
Immunohistochemical study in two cases of dysplastic gangliocytoma of cerebellum (Lhermitte-Duclos disease). ( 7889336 )
1994
50
Dysplastic gangliocytoma of the cerebellum (Lhermitte-Duclos disease) and its relation to the multiple hamartoma syndrome (Cowden disease). ( 7964980 )
1994

Variations for Cowden Syndrome 1

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

75 (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 144)
# Gene Variation Type Significance SNP ID Assembly Location
1 PTEN NM_000314.6(PTEN): c.802delG (p.Asp268Thrfs) deletion Pathogenic rs587776672 GRCh38 Chromosome 10, 87960894: 87960894
2 PTEN NM_000314.6(PTEN): c.386G> A (p.Gly129Glu) single nucleotide variant Pathogenic rs121909218 GRCh37 Chromosome 10, 89692902: 89692902
3 PTEN NM_000314.6(PTEN): c.386G> A (p.Gly129Glu) single nucleotide variant Pathogenic rs121909218 GRCh38 Chromosome 10, 87933145: 87933145
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.697C> T (p.Arg233Ter) single nucleotide variant Pathogenic rs121909219 GRCh38 Chromosome 10, 87957915: 87957915
6 PTEN NM_000314.6(PTEN): c.469G> T (p.Glu157Ter) single nucleotide variant Pathogenic rs121909220 GRCh37 Chromosome 10, 89692985: 89692985
7 PTEN NM_000314.6(PTEN): c.469G> T (p.Glu157Ter) single nucleotide variant Pathogenic rs121909220 GRCh38 Chromosome 10, 87933228: 87933228
8 PTEN NM_000314.6(PTEN): c.368A> G (p.His123Arg) single nucleotide variant Pathogenic rs121909222 GRCh37 Chromosome 10, 89692884: 89692884
9 PTEN NM_000314.6(PTEN): c.368A> G (p.His123Arg) single nucleotide variant Pathogenic rs121909222 GRCh38 Chromosome 10, 87933127: 87933127
10 PTEN NM_000314.6(PTEN): c.370T> C (p.Cys124Arg) single nucleotide variant Pathogenic rs121909223 GRCh37 Chromosome 10, 89692886: 89692886
11 PTEN NM_000314.6(PTEN): c.370T> C (p.Cys124Arg) single nucleotide variant Pathogenic rs121909223 GRCh38 Chromosome 10, 87933129: 87933129
12 PTEN NM_000314.6(PTEN): c.347_351delACAAT (p.Asp116Alafs) deletion Pathogenic rs587776666 GRCh37 Chromosome 10, 89692863: 89692867
13 PTEN NM_000314.6(PTEN): c.347_351delACAAT (p.Asp116Alafs) deletion Pathogenic rs587776666 GRCh38 Chromosome 10, 87933106: 87933110
14 PTEN NM_000314.6(PTEN): c.388C> T (p.Arg130Ter) single nucleotide variant Pathogenic rs121909224 GRCh37 Chromosome 10, 89692904: 89692904
15 PTEN NM_000314.6(PTEN): c.802delG (p.Asp268Thrfs) deletion Pathogenic rs587776672 GRCh37 Chromosome 10, 89720651: 89720651
16 PTEN NM_000314.6(PTEN): c.388C> T (p.Arg130Ter) single nucleotide variant Pathogenic rs121909224 GRCh38 Chromosome 10, 87933147: 87933147
17 PTEN NM_000314.6(PTEN): c.253+1G> A single nucleotide variant Pathogenic/Likely pathogenic rs587776667 GRCh37 Chromosome 10, 89690847: 89690847
18 PTEN NM_000314.6(PTEN): c.253+1G> A single nucleotide variant Pathogenic/Likely pathogenic rs587776667 GRCh38 Chromosome 10, 87931090: 87931090
19 PTEN NM_000314.6(PTEN): c.492+2T> G single nucleotide variant Pathogenic rs587776668 GRCh37 Chromosome 10, 89693010: 89693010
20 PTEN NM_000314.6(PTEN): c.492+2T> G single nucleotide variant Pathogenic rs587776668 GRCh38 Chromosome 10, 87933253: 87933253
21 PTEN NM_000314.6(PTEN): c.696delA (p.Arg233Aspfs) deletion Pathogenic rs587776669 GRCh37 Chromosome 10, 89717671: 89717671
22 PTEN NM_000314.6(PTEN): c.696delA (p.Arg233Aspfs) deletion Pathogenic rs587776669 GRCh38 Chromosome 10, 87957914: 87957914
23 PTEN NM_000314.6(PTEN): c.104T> G (p.Met35Arg) single nucleotide variant Pathogenic rs121909225 GRCh37 Chromosome 10, 89653806: 89653806
24 PTEN NM_000314.6(PTEN): c.104T> G (p.Met35Arg) single nucleotide variant Pathogenic rs121909225 GRCh38 Chromosome 10, 87894049: 87894049
25 PTEN NM_000314.6(PTEN): c.209T> C (p.Leu70Pro) single nucleotide variant Pathogenic rs121909226 GRCh37 Chromosome 10, 89685314: 89685314
26 PTEN NM_000314.6(PTEN): c.209T> C (p.Leu70Pro) single nucleotide variant Pathogenic rs121909226 GRCh38 Chromosome 10, 87925557: 87925557
27 PTEN NM_000314.6(PTEN): c.389G> A (p.Arg130Gln) single nucleotide variant Pathogenic rs121909229 GRCh37 Chromosome 10, 89692905: 89692905
28 PTEN NM_000314.6(PTEN): c.389G> A (p.Arg130Gln) single nucleotide variant Pathogenic rs121909229 GRCh38 Chromosome 10, 87933148: 87933148
29 PTEN NM_000314.6(PTEN): c.335T> C (p.Leu112Pro) single nucleotide variant Pathogenic rs121909230 GRCh37 Chromosome 10, 89692851: 89692851
30 PTEN NM_000314.6(PTEN): c.335T> C (p.Leu112Pro) single nucleotide variant Pathogenic rs121909230 GRCh38 Chromosome 10, 87933094: 87933094
31 PTEN NM_000314.6(PTEN): c.1003C> T (p.Arg335Ter) single nucleotide variant Pathogenic rs121909231 GRCh37 Chromosome 10, 89720852: 89720852
32 PTEN NM_000314.6(PTEN): c.1003C> T (p.Arg335Ter) single nucleotide variant Pathogenic rs121909231 GRCh38 Chromosome 10, 87961095: 87961095
33 PTEN NM_000314.6(PTEN): c.40dupA (p.Arg14Lysfs) duplication Pathogenic rs587776671 GRCh38 Chromosome 10, 87864509: 87864509
34 PTEN NM_000314.6(PTEN): c.40dupA (p.Arg14Lysfs) duplication Pathogenic rs587776671 GRCh37 Chromosome 10, 89624266: 89624266
35 PTEN PTEN, CYS124SER undetermined variant Pathogenic
36 PTEN NM_000314.6(PTEN): c.633C> A (p.Cys211Ter) single nucleotide variant Pathogenic rs121909232 GRCh37 Chromosome 10, 89712015: 89712015
37 PTEN NM_000314.6(PTEN): c.633C> A (p.Cys211Ter) single nucleotide variant Pathogenic rs121909232 GRCh38 Chromosome 10, 87952258: 87952258
38 PTEN NM_000314.6(PTEN): c.507delC (p.Ser170Valfs) deletion Pathogenic rs587776673 GRCh37 Chromosome 10, 89711889: 89711889
39 PTEN NM_000314.6(PTEN): c.507delC (p.Ser170Valfs) deletion Pathogenic rs587776673 GRCh38 Chromosome 10, 87952132: 87952132
40 PTEN NM_000314.6(PTEN): c.-861G> T single nucleotide variant Pathogenic rs587776675 GRCh38 Chromosome 10, 87863608: 87863608
41 PTEN NM_000314.6(PTEN): c.-861G> T single nucleotide variant Pathogenic rs587776675 GRCh37 Chromosome 10, 89623365: 89623365
42 PTEN NM_000314.6(PTEN): c.955_958delACTT (p.Thr319Terfs) deletion Pathogenic rs146650273 GRCh37 Chromosome 10, 89720804: 89720807
43 PTEN NM_000314.6(PTEN): c.955_958delACTT (p.Thr319Terfs) deletion Pathogenic rs146650273 GRCh38 Chromosome 10, 87961047: 87961050
44 PTEN NM_000314.6(PTEN): c.955_958delACTT (p.Thr319Terfs) deletion Pathogenic rs146650273 NCBI36 Chromosome 10, 89710784: 89710787
45 PTEN NM_000314.6(PTEN): c.209+4_209+7delAGTA deletion Pathogenic/Likely pathogenic rs398123318 GRCh37 Chromosome 10, 89685318: 89685321
46 PTEN NM_000314.6(PTEN): c.209+4_209+7delAGTA deletion Pathogenic/Likely pathogenic rs398123318 GRCh38 Chromosome 10, 87925561: 87925564
47 PTEN NM_000314.6(PTEN): c.493-2A> G single nucleotide variant Pathogenic rs587781784 GRCh37 Chromosome 10, 89711873: 89711873
48 PTEN NM_000314.6(PTEN): c.493-2A> G single nucleotide variant Pathogenic rs587781784 GRCh38 Chromosome 10, 87952116: 87952116
49 PTEN NM_000314.6(PTEN): c.802-2A> T single nucleotide variant Pathogenic rs587782455 GRCh37 Chromosome 10, 89720649: 89720649
50 PTEN NM_000314.6(PTEN): c.802-2A> T single nucleotide variant Pathogenic rs587782455 GRCh38 Chromosome 10, 87960892: 87960892

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