MCID: CWD001
MIFTS: 69

Cowden Disease malady

Genetic diseases, Rare diseases, Neuronal diseases, Gastrointestinal diseases, Skin diseases, Fetal diseases, Cancer diseases categories

Aliases & Classifications for Cowden Disease

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Sources:
60UMLS, 9Disease Ontology, 41NIH Rare Diseases, 21Genetics Home Reference, 11DISEASES, 43Novoseek, 47Orphanet, 63Wikipedia, 20GeneTests, 22GTR, 38NCIt, 55SNOMED-CT, 27ICD9CM, 33MeSH, 34MESH via Orphanet, 26ICD10 via Orphanet, 61UMLS via Orphanet
See all sources

Cowden Disease, Aliases & Descriptions:

Name: Cowden Disease 9 41 21 11 43 47
Multiple Hamartoma Syndrome 63 41 21 47
Lhermitte-Duclos Disease 9 41 47 60
Cowden Syndrome 63 41 21 47
Cowden's Disease 41 20 21
Mham 63 41 21
Dysplastic Gangliocytoma of the Cerebellum 41 47
 
Cowden's Syndrome 21 22
Ldd 41 47
Cs 41 21
Cd 41 21
Dysplastic Gangliocytoma of Cerebellum 9
Hamartoma Syndrome, Multiple 60
Lumbar Disc Disease 60


Classifications:



Characteristics (Orphanet epidemiological data):

47
cowden disease:
Inheritance: Autosomal dominant; Prevalence: 1-9/1000000 (Netherlands),1-9/1000000 (Europe); Age of onset: All ages; Age of death: any age
lhermitte-duclos disease:
Prevalence: <1/1000000 (Worldwide); Age of onset: Adult


External Ids:

Disease Ontology9 DOID:6457
NCIt38 C8419, C3076
ICD9CM27 759.6
MeSH33 D006223
SNOMED-CT55 58037000, 67944007
Orphanet47 201, 65285
MESH via Orphanet34 D006223
ICD10 via Orphanet26 Q85.8, Q04.8
UMLS via Orphanet61 C0018553, C0391826, C1266181

Summaries for Cowden Disease

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NIH Rare Diseases:41 Cowden syndrome is an inherited condition that is characterized primarily by multiple, noncancerous growths (called hamartomas) on various parts of the body. it is considered part of the pten hamartoma tumor syndrome spectrum which also includes bannayan-riley-ruvalcaba syndrome and proteus syndrome. people affected by cowden syndrome are also at an increased risk of developing certain types of cancer, such as breast, thyroid and endometrial (lining of the uterus) cancer. most cases are caused by changes (mutations) in the pten gene and are inherited in an autosomal dominant manner. management typically includes high-risk screening for associated tumors and/or prophylactic surgeries. last updated: 3/15/2015

MalaCards based summary: Cowden Disease, also known as multiple hamartoma syndrome, is related to cowden syndrome 1 and lipomatosis, and has symptoms including macrocephaly, uterine neoplasm and neoplasm of the breast. An important gene associated with Cowden Disease is PTEN (phosphatase and tensin homolog), and among its related pathways are Small cell lung cancer and Kit Receptor Signaling Pathway. The compounds Fumaric acid and fumarate have been mentioned in the context of this disorder. Affiliated tissues include breast, thyroid and cerebellum, and related mouse phenotypes are vision/eye and respiratory system.

Disease Ontology:9 An autosomal dominant disease characterized by multiple noncancerous, tumor-like growths (hamartomas) and an increased risk of certain forms of cancer, especially breast, thyroid and endometrium. it is caused by mutations in the pten, sdhb, sdhd and klln genes.

Genetics Home Reference:21 Cowden syndrome is a disorder characterized by multiple noncancerous, tumor-like growths called hamartomas and an increased risk of developing certain cancers.

Wikipedia:63 Cowden syndrome (also known as \"Cowden\'s disease,\" and \"Multiple hamartoma syndrome\") is a rare... more...

Related Diseases for Cowden Disease

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Diseases in the Cowden Disease family:

Cowden Syndrome 2 Cowden Syndrome 5
Cowden Syndrome 4 Cowden Syndrome 1
Cowden Syndrome 3 Cowden Syndrome 6

Diseases related to Cowden Disease via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50)    (show all 272)
idRelated DiseaseScoreTop Affiliating Genes
1cowden syndrome 131.5PTEN
2lipomatosis31.0PTEN
3proteus syndrome, somatic30.8PTEN
4ganglioglioma30.8TSC2, TSC1
5bannayan-riley-ruvalcaba syndrome30.5PTEN, BMPR1A
6polyposis, juvenile intestinal30.5BMPR1A, SMAD4
7ganglioneuroma30.5RET, PTEN
8colorectal cancer30.4PIK3CA, AKT1
9thyroid cancer30.4RET, PIK3CA, PTEN
10breast cancer30.4STK11, AKT1, PIK3CA, SMAD4, PTEN
11melanoma30.4PIK3CA, PTEN, TSC2, AKT1, STK11
12kidney cancer30.2PIK3CA, SDHB, TSC2
13endometrial cancer30.2PTEN, AKT1, PIK3CA
14astrocytoma30.2PIK3CA, STK11, AKT1, TSC1, TSC2, PTEN
15glioblastoma30.2AKT1, PTEN, SMAD4, PIK3CA
16adenoma30.1STK11, RET, SMAD4, TSC1
17peutz-jeghers syndrome30.0STK11, BMPR1A, TSC2, PTEN, TSC1
18neurofibromatosis30.0RET, SDHB, SDHD, SDHC
19ischemia29.7PIK3CA, SDHB, AKT1, STK11
20hepatocellular carcinoma29.7SMAD4, PIK3CA, STK11, PTEN, AKT1
21gastric cancer, somatic29.5STK11, SMAD4, SDHB, PTEN, AKT1, PIK3CA
22adenocarcinoma29.5PIK3CA, SMAD4, PTEN, TSC1, AKT1, STK11
23prostate cancer29.1PIK3CA, SMAD4, BMPR1A, AKT1, PTEN, SDHC
24medulloblastoma10.6
25adult medulloblastoma10.5
26intestinal obstruction10.4RET
27cowden syndrome 510.4
28cowden syndrome 410.4
29cowden syndrome 310.4
30cowden syndrome 610.4
31holoprosencephaly10.4
32cockayne syndrome, type a10.4
33cowden syndrome 210.4
34cockayne syndrome10.4
35kidney angiomyolipoma10.3TSC1, TSC2
36tuberous sclerosis-110.3TSC1, TSC2
37west syndrome10.3TSC1, TSC2
38hydrocephalus10.3
39ossifying fibroma10.3
40syringomyelia10.3
41dysembryoplastic neuroepithelial tumor10.3
42polydactyly10.3
43fibroma10.3
44neuronitis10.3
45mutism10.3
46obstructive hydrocephalus10.3
47ependymoma10.3
48split cord malformation10.3
49conduct disorder10.3
50subependymal giant cell astrocytoma10.3TSC2, TSC1

Graphical network of the top 20 diseases related to Cowden Disease:



Diseases related to cowden disease

Symptoms for Cowden Disease

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Symptoms:

 47 (show all 65)
  • macrocephaly/macrocrania/megalocephaly/megacephaly
  • hyperkeratosis/ainhum/hyperkeratotic skin fissures
  • follicular/erythematous/edematous papules/milium
  • warts/papillomas
  • subcutaneous nodules/lipomas/tumefaction/swelling
  • follicular/conjunctival hamartomas
  • polyposis of the bowel/colon/intestine
  • breast neoplasm/tumor/carcinoma/cancer
  • uterus/uterine/cervix/endometrium neoplasm/tumor/carcinoma/cancer
  • thyroid neoplasm/tumor/carcinoma/cancer
  • skin/cutaneous neoplasm/tumor/carcinoma/cancer (excluding melanoma)
  • autosomal dominant inheritance
  • dolichocephaly/scaphocephaly
  • macroglossia/tongue protrusion/proeminent/hypertrophic
  • fissured/scrotal tongue
  • thickened/hypertrophic/fibromatous gingivae
  • anomalies of teeth and dentition
  • palmoplantar hyperkeratosis/keratoderma
  • hairy patch
  • macules
  • pigmented naevi/naevus pigmentosus/lentigo
  • telangiectasiae of mucosae
  • cavernous/tuberous hemangioma
  • xanthomas/lipomas
  • gastrointestinal bleeding/hemorrhage/hematemesis/melena/rectorrhagia
  • penis anomalies
  • thyroid anomalies
  • goiter
  • anaemia
  • neoplasms/tumors
  • meningioma
  • cataract/lens opacification
  • retinal vascular anomalies/retinal telangiectasia
  • myopia
  • high vaulted/narrow palate
  • hearing loss/hypoacusia/deafness
  • gynecomastia/breast/mammary gland enlargement/hyperplasia
  • pectus excavatum
  • kyphosis
  • scoliosis
  • short hand/brachydactyly
  • irregular/patchy skin hypopigmentation
  • cafe-au-lait spot
  • adenoma sebaceum
  • renal/kidney anomalies
  • uterine/uterus/fallopian tubes anomalies
  • abnormal/polycystic ovaries
  • cerebellum/cerebellar vermis anomaly/agenesis/hypoplasia
  • cranial hypertension
  • seizures/epilepsy/absences/spasms/status epilepticus
  • autism/autistic disoders
  • bone cyst
  • ovary/fallopian tube neoplasm/tumor/carcinoma/cancer (excl. teratoma/germinoma)
  • kidney/renal neoplasm/tumor/carcinoma/cancer
  • melanoma
  • central nervous system/peripheral nerves neoplasm/tumor/carcinoma/cancer
  • short stature/dwarfism/nanism
  • failure to thrive/difficulties for feeding in infancy/growth delay
  • polydactyly of toes
  • nausea/vomiting/regurgitation/merycism/hyperemesis
  • hydrocephaly
  • facial pain/cephalalgia/migraine
  • ataxia/incoordination/trouble of the equilibrium
  • agyria/micro/pachy/macrogyria/lissencephaly/gyration/neuronal migration defect
  • tall stature/gigantism/growth acceleration

HPO human phenotypes related to Cowden Disease:

(show all 58)
id Description Frequency HPO Source Accession
1 macrocephaly hallmark (90%) HP:0000256
2 uterine neoplasm hallmark (90%) HP:0010784
3 neoplasm of the breast hallmark (90%) HP:0100013
4 neoplasm of the thyroid gland hallmark (90%) HP:0100031
5 conjunctival hamartoma hallmark (90%) HP:0100780
6 intestinal polyposis hallmark (90%) HP:0200008
7 verrucae hallmark (90%) HP:0200043
8 abnormality of the tongue hallmark (90%) HP:0000157
9 hydrocephalus hallmark (90%) HP:0000238
10 seizures hallmark (90%) HP:0001250
11 foot polydactyly hallmark (90%) HP:0001829
12 nausea and vomiting hallmark (90%) HP:0002017
13 migraine hallmark (90%) HP:0002076
14 incoordination hallmark (90%) HP:0002311
15 increased intracranial pressure hallmark (90%) HP:0002516
16 neoplasm of the nervous system hallmark (90%) HP:0004375
17 aplasia/hypoplasia of the cerebellum hallmark (90%) HP:0007360
18 abnormality of the penis typical (50%) HP:0000036
19 abnormality of the teeth typical (50%) HP:0000164
20 gingival overgrowth typical (50%) HP:0000212
21 furrowed tongue typical (50%) HP:0000221
22 dolichocephaly typical (50%) HP:0000268
23 goiter typical (50%) HP:0000853
24 palmoplantar keratoderma typical (50%) HP:0000982
25 melanocytic nevus typical (50%) HP:0000995
26 hypertrichosis typical (50%) HP:0000998
27 multiple lipomas typical (50%) HP:0001012
28 hypermelanotic macule typical (50%) HP:0001034
29 cavernous hemangioma typical (50%) HP:0001048
30 anemia typical (50%) HP:0001903
31 gastrointestinal hemorrhage typical (50%) HP:0002239
32 meningioma typical (50%) HP:0002858
33 mucosal telangiectasiae typical (50%) HP:0100579
34 polycystic ovaries occasional (7.5%) HP:0000147
35 abnormality of the palate occasional (7.5%) HP:0000174
36 hearing impairment occasional (7.5%) HP:0000365
37 cataract occasional (7.5%) HP:0000518
38 myopia occasional (7.5%) HP:0000545
39 autism occasional (7.5%) HP:0000717
40 pectus excavatum occasional (7.5%) HP:0000767
41 gynecomastia occasional (7.5%) HP:0000771
42 cafe-au-lait spot occasional (7.5%) HP:0000957
43 hypopigmented skin patches occasional (7.5%) HP:0001053
44 brachydactyly syndrome occasional (7.5%) HP:0001156
45 seizures occasional (7.5%) HP:0001250
46 increased intracranial pressure occasional (7.5%) HP:0002516
47 scoliosis occasional (7.5%) HP:0002650
48 kyphosis occasional (7.5%) HP:0002808
49 melanoma occasional (7.5%) HP:0002861
50 short stature occasional (7.5%) HP:0004322
51 aplasia/hypoplasia of the cerebellum occasional (7.5%) HP:0007360
52 abnormality of the retinal vasculature occasional (7.5%) HP:0008046
53 adenoma sebaceum occasional (7.5%) HP:0009720
54 renal neoplasm occasional (7.5%) HP:0009726
55 bone cyst occasional (7.5%) HP:0012062
56 ovarian neoplasm occasional (7.5%) HP:0100615
57 tall stature occasional (7.5%) HP:0000098
58 abnormality of neuronal migration occasional (7.5%) HP:0002269

Drugs & Therapeutics for Cowden Disease

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Drug clinical trials:

Search ClinicalTrials for Cowden Disease

Search NIH Clinical Center for Cowden Disease

Genetic Tests for Cowden Disease

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Genetic tests related to Cowden Disease:

id Genetic test Affiliating Genes
1 Cowden Syndrome20 22 PTEN

Anatomical Context for Cowden Disease

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MalaCards organs/tissues related to Cowden Disease:

31
Breast, Thyroid, Cerebellum, Uterus, Skin, Tongue, Ovary, Kidney, Bone, Brain, Colon, Cervix, Testis

Animal Models for Cowden Disease or affiliated genes

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MGI Mouse Phenotypes related to Cowden Disease:

35 (show all 21)
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053918.5BMPR1A, STK11, PTEN, SDHC, PIK3CA
2MP:00053888.0PTEN, TSC1, AKT1, RET, STK11, BMPR1A
3MP:00030127.9PIK3CA, SDHB, RET, STK11, BMPR1A
4MP:00053707.9SMAD4, PTEN, TSC2, TSC1, AKT1, STK11
5MP:00053677.6SMAD4, PTEN, TSC2, TSC1, RET, STK11
6MP:00053877.1PIK3CA, SMAD4, PTEN, AKT1, RET, STK11
7MP:00053977.0SMAD4, PTEN, TSC2, AKT1, RET, STK11
8MP:00053697.0PIK3CA, SMAD4, PTEN, TSC1, AKT1, RET
9MP:00107716.9PIK3CA, SMAD4, PTEN, TSC2, TSC1, AKT1
10MP:00028736.9SMAD4, SDHD, PTEN, TSC2, AKT1, RET
11MP:00053896.5PIK3CA, SMAD4, PTEN, TSC2, TSC1, AKT1
12MP:00020066.3BMPR1A, PIK3CA, SMAD4, SDHD, PTEN, TSC2
13MP:00053796.2PIK3CA, SMAD4, SDHD, PTEN, TSC2, TSC1
14MP:00053806.2PTEN, SDHD, SMAD4, PIK3CA, TSC2, TSC1
15MP:00053856.2PTEN, SDHD, SMAD4, PIK3CA, TSC2, TSC1
16MP:00053866.2PTEN, SDHD, SMAD4, PIK3CA, TSC2, TSC1
17MP:00053846.2PIK3CA, SMAD4, SDHD, PTEN, TSC2, TSC1
18MP:00036316.2PTEN, SDHD, SMAD4, PIK3CA, TSC2, TSC1
19MP:00053786.1PIK3CA, SMAD4, SDHD, PTEN, TSC2, TSC1
20MP:00053766.1PTEN, SDHD, SMAD4, PIK3CA, TSC2, TSC1
21MP:00107685.9SDHC, SDHD, SMAD4, PIK3CA, PTEN, TSC2

Publications for Cowden Disease

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Articles related to Cowden Disease:

(show top 50)    (show all 83)
idTitleAuthorsYear
1
Postoperative Dural Arteriovenous Fistula in a Patient with Cowden Disease: A Case Report. (23680687)
2013
2
Contribution of PTEN large rearrangements in Cowden disease: a multiplex amplifiable probe hybridisation (MAPH) screening approach. (18456716)
2008
3
Skin abnormalities in individuals with macrocephaly: Cowden disease from a dermatologist's point of view. (18986487)
2008
4
Storiform collagenoma as a clue for Cowden disease or PTEN hamartoma tumour syndrome. (17513505)
2007
5
Testicular mixed germ cell tumor in an adolescent with cowden disease. (18160807)
2007
6
Cowden disease: a review. (17394437)
2007
7
Pten loss in the mouse thyroid causes goiter and follicular adenomas: insights into thyroid function and Cowden disease pathogenesis. (17283127)
2007
8
PTEN catalysis of phospholipid dephosphorylation reaction follows a two-step mechanism in which the conserved aspartate-92 does not function as the general acid--mechanistic analysis of a familial Cowden disease-associated PTEN mutation. (17324556)
2007
9
Type 2 segmental Cowden disease vs. Proteus syndrome. (17388921)
2007
10
Multiple hyperechoic testicular lesions are a common finding on ultrasound in Cowden disease and represent lipomatosis of the testis. (16980675)
2006
11
Cowden disease: CT findings in three patients. (15812679)
2005
12
Cowden disease in a family: a clinical and genetic diagnosis. (16021145)
2005
13
Cowden disease with Lhermitte-Duclos disease: case report. (15595264)
2004
14
Novel germline mutation of the PTEN gene in a Japanese family with Cowden disease. (12560928)
2003
15
Identification of germline mutation of PTEN gene and analysis of apoptosis resistance of the lymphocytes in a patient with Cowden disease. (12415190)
2002
16
Cowden disease or multiple hamartoma syndrome--cutaneous clue to internal malignancy. (12370126)
2002
17
Activation of a cryptic splice site of PTEN and loss of heterozygosity in benign skin lesions in Cowden disease. (11886535)
2001
18
Mutation analysis of the PTEN / MMAC1 gene in Japanese patients with Cowden disease. (10920277)
2000
19
Cowden disease]. (10921327)
2000
20
A novel PTEN mutation in a Japanese patient with Cowden disease. (10848731)
2000
21
Cowden disease and Lhermitte-Duclos disease: characterization of a new phakomatosis. (10690726)
2000
22
Cowden disease and Lhermitte Duclos disease, markers of breast carcinoma: report of two patients. (10586343)
1999
23
A novel germline mutation of the PTEN/MMAC1 gene in a patient with Cowden disease. (10606430)
1999
24
Transcatheter embolization of arteriovenous malformations in Cowden disease. (10475785)
1999
25
Linkage analysis of 56 multiplex families excludes the Cowden disease gene PTEN as a major contributor to familial breast cancer. (10507734)
1999
26
Variant manifestation of Cowden disease in Japan: hamartomatous polyposis of the digestive tract with mutation of the PTEN gene. (9915974)
1999
27
Germline mutations of the PTEN/MMAC1 gene in Japanese patients with Cowden disease. (9685848)
1998
28
Identification of a novel PTEN mutation (L139X) in a patient with Cowden disease and SjAPgren's syndrome. (10193515)
1998
29
A heterozygous germline mutation of the PTEN/MMAC1 gene in a patient with Cowden disease. (9852263)
1998
30
Allelic imbalance, including deletion of PTEN/MMACI, at the Cowden disease locus on 10q22-23, in hamartomas from patients with Cowden syndrome and germline PTEN mutation. (9443042)
1998
31
Mutational abrogation of the PTEN/MMAC1 gene in gastrointestinal polyps in patients with Cowden disease. (9797362)
1998
32
Sporadic breast cancers exhibit loss of heterozygosity on chromosome segment 10q23 close to the Cowden disease locus. (9491329)
1998
33
Allele loss in colorectal cancer at the Cowden disease/juvenile polyposis locus on 10q. (9242220)
1997
34
Inherited mutations in PTEN that are associated with breast cancer, Cowden disease, and juvenile polyposis. (9399897)
1997
35
Germline mutations of the PTEN gene in Cowden disease, an inherited breast and thyroid cancer syndrome. (9140396)
1997
36
Somatic deletions and mutations in the Cowden disease gene, PTEN, in sporadic thyroid tumors. (9354427)
1997
37
Cowden disease. Report of a family and review. (9297442)
1996
38
Localization of the gene for Cowden disease to chromosome 10q22-23. (8673088)
1996
39
Early diagnosis of multiple hamartoma and neoplasia syndrome (Cowden disease). The role of the dentist. (7621006)
1995
40
Dysplastic gangliocytoma of the cerebellum (Lhermitte-Duclos disease) and its relation to the multiple hamartoma syndrome (Cowden disease). (7964980)
1994
41
Association of Lhermitte-Duclos and Cowden disease: report of a new case and review of the literature. (8006650)
1994
42
Lhermitte-Duclos disease and Cowden disease: a third case. (1642466)
1992
43
Cowden disease (multiple hamartoma syndrome). (2385806)
1990
44
Cowden disease in a young girl: gynecologic and immunologic overview in a case and in the literature. (2649833)
1989
45
Cowden disease. A hereditary polyposis syndrome diagnosable by mucocutaneous inspection. (3782758)
1986
46
Cowden disease: gene marker studies and measurements of epidermal growth factor. (3487976)
1986
47
Radiological findings in multiple hamartoma syndrome (Cowden disease): a report of three cases. (7433661)
1980
48
Radiologic manifestations of Cowden disease. (6773349)
1980
49
The association of myasthenia gravis with multiple hamartoma syndrome (Cowden disease) (7436365)
1980
50
Cowden disease. (1156682)
1975

Variations for Cowden Disease

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Clinvar genetic disease variations for Cowden Disease:

6 (show all 21)
id Gene Variation Type Significance SNP ID Assembly Location
1AKT1NM_001014431.1(AKT1): c.73C> T (p.Arg25Cys)single nucleotide variantPathogenicrs397514644GRCh37Chr 14, 105246527: 105246527
2AKT1NM_001014431.1(AKT1): c.1303A> C (p.Thr435Pro)single nucleotide variantPathogenicrs397514645GRCh37Chr 14, 105237142: 105237142
3KLLNKLLN, PROMOTER HYPERMETHYLATIONundetermined variantPathogenic
4SDHDNM_003002.3(SDHD): c.34G> A (p.Gly12Ser)single nucleotide variantPathogenicrs34677591GRCh37Chr 11, 111957665: 111957665
5SDHDNM_003002.3(SDHD): c.433C> A (p.His145Asn)single nucleotide variantPathogenicrs121908984GRCh37Chr 11, 111965647: 111965647
6PTENNM_000314.4(PTEN): c.386G> A (p.Gly129Glu)single nucleotide variantPathogenicrs121909218GRCh37Chr 10, 89692902: 89692902
7PTENNM_000314.4(PTEN): c.697C> T (p.Arg233Ter)single nucleotide variantPathogenicrs121909219GRCh37Chr 10, 89717672: 89717672
8PTENNM_000314.4(PTEN): c.368A> G (p.His123Arg)single nucleotide variantPathogenicrs121909222GRCh37Chr 10, 89692884: 89692884
9PTENNM_000314.4(PTEN): c.370T> C (p.Cys124Arg)single nucleotide variantPathogenicrs121909223GRCh37Chr 10, 89692886: 89692886
10PTENNM_000314.4(PTEN): c.347_351delACAAT (p.Asp116Alafs)deletionPathogenicGRCh37Chr 10, 89692863: 89692867
11PTENNM_000314.4(PTEN): c.388C> T (p.Arg130Ter)single nucleotide variantPathogenicrs121909224GRCh37Chr 10, 89692904: 89692904
12PTENNM_000314.4(PTEN): c.492+2T> Gsingle nucleotide variantPathogenicGRCh37Chr 10, 89693010: 89693010
13PTENNM_000314.4(PTEN): c.696delA (p.Arg233Aspfs)deletionPathogenicGRCh37Chr 10, 89717671: 89717671
14PTENNM_000314.4(PTEN): c.104T> G (p.Met35Arg)single nucleotide variantPathogenicrs121909225GRCh37Chr 10, 89653806: 89653806
15PTENNM_000314.4(PTEN): c.209T> C (p.Leu70Pro)single nucleotide variantPathogenicrs121909226GRCh37Chr 10, 89685314: 89685314
16PTENNM_000314.4(PTEN): c.389G> A (p.Arg130Gln)single nucleotide variantPathogenicrs121909229GRCh37Chr 10, 89692905: 89692905
17PTENNM_000314.4(PTEN): c.1003C> T (p.Arg335Ter)single nucleotide variantPathogenicrs121909231GRCh37Chr 10, 89720852: 89720852
18PTENNM_000314.4(PTEN): c.40dupA (p.Arg14Lysfs)duplicationPathogenicGRCh38Chr 10, 87864509: 87864509
19PTENNM_000314.4(PTEN): c.802delG (p.Asp268Thrfs)deletionPathogenicGRCh37Chr 10, 89720651: 89720651
20PTENNM_000314.4(PTEN): c.-764G> Asingle nucleotide variantPathogenicGRCh37Chr 10, 89623462: 89623462
21PTENNM_000314.4(PTEN): c.-861G> Tsingle nucleotide variantPathogenicGRCh38Chr 10, 87863608: 87863608

Expression for genes affiliated with Cowden Disease

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Search GEO for disease gene expression data for Cowden Disease.

Pathways for genes affiliated with Cowden Disease

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Pathways related to Cowden Disease according to GeneCards Suite gene sharing:

(show top 50)    (show all 72)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.6PIK3CA, PTEN, AKT1
2
Show member pathways
Signaling events mediated by Stem cell factor receptor (c-Kit)36
9.6PIK3CA, PTEN, AKT1
39.6AKT1, PIK3CA, PTEN
49.6PIK3CA, AKT1, PTEN
5
Show member pathways
TCA cycle36
pyruvate decarboxylation to acetyl CoA36
NAD phosphorylation and dephosphorylation36
TCA Cycle36
conversion of glucose to acetyl CoA and entry into the TCA cycle36
9.5SDHD, SDHB, SDHC
6
Show member pathways
L-serine degradation36
pentose phosphate pathway (oxidative branch)36
formaldehyde oxidation II (glutathione-dependent)36
9.5SDHC, SDHD, SDHB
79.4PIK3CA, STK11, AKT1
8
Show member pathways
9.3RET, AKT1, PIK3CA
9
Show member pathways
Development ERBB family signaling58
Development GDNF family signaling58
9.3RET, AKT1, PIK3CA
10
Show member pathways
Development Role of HDAC and calcium calmodulin dependent kinase CaMK in control of skeletal myogenesis58
9.3AKT1, TSC2, PIK3CA
119.3TSC2, AKT1, PIK3CA
12
Show member pathways
mTOR signaling pathway36
9.2TSC1, AKT1, TSC2
13
Show member pathways
9.2PIK3CA, AKT1, BMPR1A
14
Show member pathways
9.2BMPR1A, PIK3CA, AKT1
159.1AKT1, SMAD4, PTEN
16
Show member pathways
9.0TSC2, PIK3CA, PTEN, AKT1
17
Show member pathways
9.0AKT1, TSC2, PTEN, PIK3CA
18
Show member pathways
Translation Non genomic rapid action of Androgen Receptor58
9.0AKT1, TSC2, PTEN, PIK3CA
19
Show member pathways
Cytoskeleton remodeling FAK signaling58
Development Endothelin 1 EDNRA transactivation of EGFR58
9.0PIK3CA, AKT1, PTEN, TSC2
20
Show member pathways
9.0PIK3CA, PTEN, TSC2, AKT1
219.0PTEN, TSC2, STK11, AKT1
22
Show member pathways
Immune response IL 3 activation and signaling pathway58
9.0AKT1, SMAD4, PIK3CA
23
Show member pathways
9.0PIK3CA, AKT1, SMAD4
249.0TSC1, AKT1, TSC2, PTEN
259.0AKT1, TSC2, TSC1, PTEN
26
Show member pathways
8.9AKT1, PIK3CA, SDHB, SDHD, SDHC
27
Show member pathways
8.8TSC2, STK11, AKT1, TSC1
28
Show member pathways
8.8STK11, AKT1, TSC2, TSC1
298.7SMAD4, BMPR1A, AKT1
30
Show member pathways
Toll-like receptor signaling pathway36
Regulation of toll-like receptor signaling pathway36
8.7PTEN, PIK3CA, AKT1, SMAD4
318.6TSC2, PIK3CA, PTEN, AKT1, TSC1
328.6TSC2, TSC1, PTEN, PIK3CA, AKT1
33
Show member pathways
Development IGF RI signaling
Immune response IL 4 signaling pathway58
Signal transduction AKT signaling58
8.6TSC2, PTEN, PIK3CA, TSC1, AKT1
34
Show member pathways
Signaling Pathways in Glioblastoma36
8.6AKT1, PTEN, PIK3CA, TSC1, TSC2
35
Show member pathways
Prostate Cancer36
Integrated Cancer pathway36
Steroid Biosynthesis36
8.6PIK3CA, PTEN, TSC1, TSC2, AKT1
368.4PIK3CA, TSC2, AKT1, STK11, TSC1
37
Show member pathways
8.4PIK3CA, TSC1, STK11, AKT1, TSC2
38
Show member pathways
8.3PTEN, TSC2, BMPR1A, AKT1, TSC1
398.3PIK3CA, AKT1, STK11, PTEN, SMAD4
40
Show member pathways
PLK2 and PLK4 events36
Polo-like kinase signaling events in the cell cycle36
8.3PIK3CA, STK11, AKT1, PTEN, SMAD4
418.3TSC2, TSC1, SMAD4, STK11
428.2PIK3CA, SMAD4, PTEN, AKT1, RET
43
Show member pathways
Signal transduction PTEN pathway58
8.2AKT1, TSC2, SMAD4, PIK3CA, PTEN
448.2PIK3CA, PTEN, SMAD4, TSC2, AKT1
45
Show member pathways
8.2STK11, SDHC, SDHD, SDHB, AKT1, PIK3CA
468.2STK11, AKT1, TSC1, TSC2, PIK3CA, PTEN
47
Show member pathways
Transcription Receptor mediated HIF regulation58
Development CNTF receptor signaling58
Class IB PI3K non-lipid kinase events36
ErbB2/ErbB3 signaling events36
Development Growth hormone signaling via PI3K AKT and MAPK cascades58
Translation Regulation activity of EIF258
Regulation of lipid metabolism Insulin signaling generic cascades58
Transcription PPAR Pathway58
Cell adhesion PLAU signaling58
Translation Regulation activity of EIF4F58
8.2PIK3CA, TSC2, PTEN, AKT1, STK11, TSC1
48
Show member pathways
7.9PTEN, TSC2, TSC1, AKT1, STK11, BMPR1A
497.1AKT1, SMAD4, PTEN, TSC2, STK11, BMPR1A
50
Show member pathways
6.7TSC2, BMPR1A, PIK3CA, STK11, SMAD4, PTEN

Compounds for genes affiliated with Cowden Disease

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Compounds related to Cowden Disease according to GeneCards Suite gene sharing:

(show top 50)    (show all 64)
idCompoundScoreTop Affiliating Genes
1Fumaric acid249.9SDHC, SDHB, SDHD
2fumarate43 1210.9SDHB, SDHD, SDHC
3succinic acid28 24 1211.9SDHD, SDHB, SDHC
4iron-sulfur439.9SDHC, SDHB, SDHD
5ubiquinone439.9SDHD, SDHC, SDHB
6Sulfide249.8SDHB, SDHC, SDHD
7QH2249.8SDHC, SDHB, SDHD
8gefitinib43 49 1211.8PTEN, PIK3CA, AKT1
9Ubiquinone Q2249.8SDHD, SDHC, SDHB
10Ubiquinone Q1249.8SDHB, SDHD, SDHC
11metformin43 49 1211.7STK11, PIK3CA, AKT1
12phosphatidylinositol-3,4,5-trisphosphate43 2410.6PTEN, PIK3CA, AKT1
13quercetin43 59 24 1212.6PIK3CA, PTEN, AKT1
14catecholamine439.5SDHB, RET, SDHD
15guanosine43 24 1211.5AKT1, TSC2, TSC1
16succinate439.4SDHC, SDHD, RET, SDHB
17crcs439.4PTEN, SMAD4, PIK3CA
18genistein43 28 59 2 24 1214.3PIK3CA, RET, PTEN, AKT1
19everolimus43 49 1211.3TSC2, TSC1, AKT1, PIK3CA
20inositol439.3PTEN, AKT1, PIK3CA
21mg 13243 5910.1SMAD4, PTEN, AKT1
22dopamine43 28 24 1212.1SDHB, AKT1, RET, PIK3CA
23aspartate439.0RET, SDHB, PTEN, AKT1
24phosphoinositide439.0TSC1, PTEN, TSC2, PIK3CA, AKT1
25ly294002438.9AKT1, TSC2, PIK3CA, PTEN, RET
26wortmannin438.9TSC2, PTEN, PIK3CA, RET, AKT1
27iron43 249.9SMAD4, SDHB, SDHD, SDHC
28retinoic acid43 249.9RET, PTEN, PIK3CA, SDHC, AKT1
29oxygen43 249.7SDHB, STK11, SDHC, SDHD, PTEN, TSC2
30agar438.6PIK3CA, SMAD4, PTEN, AKT1, RET
31rapamycin438.6PIK3CA, TSC2, TSC1, AKT1, STK11, PTEN
32Adenosine triphosphate24 129.5PIK3CA, AKT1, RET, STK11, BMPR1A
33steroid438.5PTEN, SMAD4, PIK3CA, TSC2, SDHC
34phosphatidylinositol438.5AKT1, PTEN, TSC2, PIK3CA, TSC1, RET
35atp43 289.4SDHB, TSC2, PTEN, STK11, RET, PIK3CA
36estrogen438.4SMAD4, AKT1, PTEN, TSC2, PIK3CA
37adp43 28 2410.4PIK3CA, PTEN, AKT1, RET, STK11, BMPR1A
38leucine438.3PTEN, SMAD4, TSC2, PIK3CA, RET
39glycogen43 249.3SDHB, STK11, AKT1, TSC1, TSC2, PIK3CA
40pd 98,059438.2SMAD4, TSC1, AKT1, PTEN, RET, PIK3CA
41lipid438.2TSC2, RET, SDHB, PTEN, AKT1, PIK3CA
42alanine437.8PTEN, RET, AKT1, TSC1, SMAD4, SDHB
43testosterone43 59 24 1210.8SDHB, TSC2, PTEN, RET, AKT1, SMAD4
44arginine437.8RET, SDHB, PTEN, PIK3CA, TSC2, AKT1
45paraffin437.7TSC1, PTEN, TSC2, STK11, RET, SMAD4
46glucose437.4PTEN, PIK3CA, SMAD4, TSC1, AKT1, STK11
47tyrosine437.3RET, AKT1, SMAD4, SDHB, PIK3CA, PTEN
48threonine436.7SMAD4, PTEN, TSC2, TSC1, AKT1, RET
49serine436.6SMAD4, BMPR1A, STK11, RET, TSC1, TSC2
50vegf436.6STK11, PIK3CA, SMAD4, SDHB, SDHC, PTEN

GO Terms for genes affiliated with Cowden Disease

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Cellular components related to Cowden Disease according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1mitochondrial respiratory chain complex IIGO:00057499.5SDHC, SDHD, SDHB
2TSC1-TSC2 complexGO:00335969.4TSC1, TSC2
3mitochondrionGO:00057398.8STK11, PTEN, SDHC, SDHD, SDHB
4cytosolGO:00058297.1PIK3CA, SMAD4, PTEN, TSC2, TSC1, AKT1

Biological processes related to Cowden Disease according to GeneCards Suite gene sharing:

(show all 31)
idNameGO IDScoreTop Affiliating Genes
1regulation of neuron projection developmentGO:001097510.2AKT1, PTEN
2aerobic respirationGO:000906010.0SDHB, SDHC
3negative regulation of phosphatidylinositol 3-kinase signalingGO:001406710.0PTEN, TSC2
4endothelial cell migrationGO:004354210.0PIK3CA, PTEN
5insulin-like growth factor receptor signaling pathwayGO:00480099.9AKT1, TSC2
6tricarboxylic acid cycleGO:00060999.9SDHB, SDHD, SDHC
7respiratory electron transport chainGO:00229049.8SDHB, SDHD, SDHC
8cellular metabolic processGO:00442379.8SDHC, SDHD, SDHB
9vasculature developmentGO:00019449.8PIK3CA, STK11
10T cell receptor signaling pathwayGO:00508529.8PIK3CA, PTEN, STK11
11negative regulation of protein kinase B signalingGO:00518989.7TSC2, PTEN
12negative regulation of TOR signalingGO:00320079.7TSC2, TSC1
13cell projection organizationGO:00300309.6AKT1, TSC1, TSC2
14protein kinase B signalingGO:00434919.4PIK3CA, PTEN, TSC2, AKT1
15protein heterooligomerizationGO:00512919.4TSC2, TSC1, STK11
16phosphatidylinositol-mediated signalingGO:00480159.4AKT1, TSC2, PTEN, PIK3CA
17fibroblast growth factor receptor signaling pathwayGO:00085439.4PIK3CA, PTEN, TSC2, AKT1
18positive regulation of transforming growth factor beta receptor signaling pathwayGO:00305119.4STK11, SMAD4
19Fc-epsilon receptor signaling pathwayGO:00380959.4PIK3CA, PTEN, TSC2, AKT1
20epidermal growth factor receptor signaling pathwayGO:00071739.4AKT1, TSC2, PTEN, PIK3CA
21neurotrophin TRK receptor signaling pathwayGO:00480119.4AKT1, TSC2, PTEN, PIK3CA
22negative regulation of cell sizeGO:00457929.4AKT1, TSC1, TSC2, PTEN
23cell cycle arrestGO:00070509.3TSC2, TSC1, STK11
24positive regulation of SMAD protein import into nucleusGO:00603919.3SMAD4, BMPR1A
25developmental growthGO:00485899.0BMPR1A, SMAD4
26protein phosphorylationGO:00064688.9AKT1, RET, STK11, BMPR1A
27positive regulation of pathway-restricted SMAD protein phosphorylationGO:00108628.9BMPR1A, SMAD4
28insulin receptor signaling pathwayGO:00082868.8PIK3CA, TSC2, TSC1, AKT1, STK11
29innate immune responseGO:00450878.7PIK3CA, PTEN, TSC2, AKT1
30small molecule metabolic processGO:00442818.6PIK3CA, SDHB, SDHD, SDHC, PTEN, AKT1
31negative regulation of cell proliferationGO:00082858.4SMAD4, PTEN, TSC2, TSC1, STK11

Molecular functions related to Cowden Disease according to GeneCards Suite gene sharing:

(show all 8)
idNameGO IDScoreTop Affiliating Genes
1succinate dehydrogenase activityGO:000010410.0SDHC, SDHD
2ubiquinone bindingGO:00480399.9SDHD, SDHB
3electron carrier activityGO:00090559.6SDHB, SDHD, SDHC
414-3-3 protein bindingGO:00718899.6AKT1, TSC2
5protein kinase activator activityGO:00302959.4PIK3CA, STK11
6protein serine/threonine kinase activityGO:00046748.8BMPR1A, STK11, AKT1, PIK3CA
7ATP bindingGO:00055248.3BMPR1A, STK11, RET, AKT1, PIK3CA
8protein bindingGO:00055156.0PIK3CA, SMAD4, SDHB, PTEN, TSC2, TSC1

Products for genes affiliated with Cowden Disease

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies
  • Proteins
  • Kits and Assays

Sources for Cowden Disease

About this section
3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCIt
39NDF-RT
42NINDS
43Novoseek
45OMIM
46OMIM via Orphanet
50PubMed
51QIAGEN
56SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet