MCID: CWD001
MIFTS: 63

Cowden Disease malady

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

Aliases & Classifications for Cowden Disease

About this section
Sources:
11Disease Ontology, 46NIH Rare Diseases, 24Genetics Home Reference, 13DISEASES, 52Orphanet, 48Novoseek, 66UMLS, 69Wikipedia, 23GeneTests, 25GTR, 37MeSH, 43NCIt, 29ICD10 via Orphanet, 38MESH via Orphanet, 67UMLS via Orphanet, 60SNOMED-CT
See all MalaCards sources

Aliases & Descriptions for Cowden Disease:

Name: Cowden Disease 11 46 24 13 52 48
Cowden Syndrome 69 46 23 24 52
Multiple Hamartoma Syndrome 11 46 24 52
Lhermitte-Duclos Disease 11 46 66
Hamartoma Syndrome, Multiple 37 66
Cowden's Syndrome 24 25
 
Cowden's Disease 46 24
Mham 46 24
Cs 46 24
Cd 46 24
Dysplastic Gangliocytoma of the Cerebellum 46
Dysplastic Gangliocytoma of Cerebellum 11

Characteristics:

Orphanet epidemiological data:

52
cowden disease:
Inheritance: Autosomal dominant; Prevalence: 1-9/1000000 (Netherlands),1-9/1000000 (Europe); Age of onset: All ages; Age of death: any age

Classifications:



External Ids:

Disease Ontology11 DOID:6457
MeSH37 D006223
NCIt43 C3076, C8419
Orphanet52 ORPHA201
SNOMED-CT60 58037000, 67944007
ICD10 via Orphanet29 Q85.8
MESH via Orphanet38 D006223
UMLS via Orphanet67 C0018553

Summaries for Cowden Disease

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NIH Rare Diseases:46 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 cowden syndrome, is related to cowden syndrome 6 and familial breast cancer, 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 Citrate cycle (TCA cycle) and Central carbon metabolism in cancer. Affiliated tissues include breast, thyroid and cerebellum, and related mouse phenotypes are neoplasm and embryo.

Disease Ontology:11 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:24 Cowden syndrome is a disorder characterized by multiple noncancerous, tumor-like growths called hamartomas and an increased risk of developing certain cancers.

Wikipedia:69 Cowden syndrome (also known as \"Cowden\'s disease,\" and \"multiple hamartoma syndrome\") is a rare... more...

Related Diseases for Cowden Disease

About this section

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 Disease via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50)    (show all 125)
idRelated DiseaseScoreTop Affiliating Genes
1cowden syndrome 633.3AKT1, CDKN3, PIK3CA, PTEN, TNS1
2familial breast cancer30.1BRCA1, BRCA2
3cowden syndrome 312.2
4cowden syndrome 212.1
5cowden syndrome 512.1
6cowden syndrome 412.1
7chanarin-dorfman syndrome11.5
8cockayne syndrome11.5
9xeroderma pigmentosum, group d11.4
10macular dystrophy, retinal, 1, north carolina type11.0BMPR1A, PTEN
11chromosome 15q24 deletion syndrome10.9BMPR1A, PTEN
12cowden syndrome 110.9
13myotonia with skeletal abnormalities and mental retardation10.9DUSP13, PTEN
14deep angioma10.9CALCA, TG
15acute thyroiditis10.8CALCA, TG
16sensory system cancer10.8CHGA, STK11
17pleomorphic adenoma10.8CALCA, TG
18pulmonary neuroendocrine tumor10.8CHGA, STK11
19cellular phase chronic idiopathic myelofibrosis10.8CHGA, STK11
20interstitial myocarditis10.8PIK3CA, PTEN
21mixed endometrial stromal and smooth muscle tumor10.7CALCA, CHGA, TG
22malignant mediastinum hemangiopericytoma10.7CALCA, PTEN, TG
23norwegian scabies10.7CALCA, CHGA, TG
24retinoschisis autosomal dominant10.7SDHB, SDHD
25cell type cancer10.7CALCA, CHGA, PTEN
26mucopolysaccharidoses10.6PIK3CA, PTEN, STK11
27prostate cancer, hereditary, x-linked 110.6AKT1, PTEN, STK11
28malignant spindle cell melanoma10.6PIK3CA, PTEN, SDHB
29cerebellar vermis medulloblastoma10.6AKT1, CHGA, PTEN
30torticollis, familial10.6SDHB, SDHC, SDHD
31neuroendocrine carcinoma of the cervix10.6SDHB, SDHC, SDHD
32carcinoid tumors, intestinal10.6SDHB, SDHC, SDHD
33seminal vesicle cystadenoma10.6SDHB, SDHC, SDHD
34ameloblastoma10.6SDHB, SDHD
35uterine corpus endometrial carcinoma10.6SDHB, SDHC, SDHD
36paraganglioma and gastric stromal sarcoma10.6SDHB, SDHC, SDHD
37lung abscess10.5SDHB, SDHC, SDHD
38mercaptolactate-cysteine disulfiduria10.5SDHB, SDHC, SDHD
39mucinous adenocarcinoma10.5BRCA2, CHGA, STK11
40sporadic secreting paraganglioma10.5SDHB, SDHC, SDHD
41herpes simplex encephalitic 610.5BRCA2, PTEN, STK11
42glioma susceptibility 210.5BMPR1A, CDKN3, PTEN, TNS1
43polysyndactyly with cardiac malformation10.5BMPR1A, PTEN
44hidrotic ectodermal dysplasia 210.5SDHB, SDHC, SDHD
45congenital pulmonary veins atresia or stenosis10.5BRCA1, BRCA2
46steroid-induced glaucoma10.5SDHB, SDHC, SDHD
47glycogen storage disease ib10.5SDHB, SDHC, SDHD
48medullary thyroid carcinoma, familial10.5CALCA, CHGA, TG
49neurofibromatosis-noonan syndrome10.5SDHB, SDHC, SDHD
50pancreatitis, pediatric10.5PIK3CA, SDHC, SDHD

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:

 52 (show all 57)
  • abnormality of the penis
  • abnormality of the kidney
  • abnormality of the uterus
  • macroglossia
  • high palate
  • furrowed tongue
  • macrocephaly
  • hearing impairment
  • cataract
  • myopia
  • autism
  • pectus excavatum
  • gynecomastia
  • abnormality of the thyroid gland
  • goiter
  • palmoplantar keratoderma
  • melanocytic nevus
  • cavernous hemangioma
  • hypopigmented skin patches
  • brachydactyly syndrome
  • intellectual disability
  • seizures
  • ataxia
  • global developmental delay
  • abnormality of the cerebellum
  • subcutaneous nodule
  • failure to thrive
  • increased intracranial pressure
  • scoliosis
  • neoplasm
  • kyphosis
  • meningioma
  • melanoma
  • breast carcinoma
  • short stature
  • hamartomatous polyposis
  • cellular immunodeficiency
  • renal cell carcinoma
  • generalized hyperkeratosis
  • follicular thyroid carcinoma
  • multiple cafe-au-lait spots
  • neoplasm of the skin
  • enlarged polycystic ovaries
  • adenoma sebaceum
  • fibroma
  • lipoma
  • bone cyst
  • endometrial carcinoma
  • macule
  • papilloma
  • neoplasm of the central nervous system
  • neoplasm of the thyroid gland
  • cognitive impairment
  • mucosal telangiectasiae
  • conjunctival hamartoma
  • papule
  • colorectal polyposis

HPO human phenotypes related to Cowden Disease:

(show all 46)
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 penis typical (50%) HP:0000036
9 abnormality of the teeth typical (50%) HP:0000164
10 gingival overgrowth typical (50%) HP:0000212
11 furrowed tongue typical (50%) HP:0000221
12 dolichocephaly typical (50%) HP:0000268
13 goiter typical (50%) HP:0000853
14 palmoplantar keratoderma typical (50%) HP:0000982
15 melanocytic nevus typical (50%) HP:0000995
16 hypertrichosis typical (50%) HP:0000998
17 multiple lipomas typical (50%) HP:0001012
18 hypermelanotic macule typical (50%) HP:0001034
19 cavernous hemangioma typical (50%) HP:0001048
20 anemia typical (50%) HP:0001903
21 gastrointestinal hemorrhage typical (50%) HP:0002239
22 meningioma typical (50%) HP:0002858
23 mucosal telangiectasiae typical (50%) HP:0100579
24 polycystic ovaries occasional (7.5%) HP:0000147
25 abnormality of the palate occasional (7.5%) HP:0000174
26 hearing impairment occasional (7.5%) HP:0000365
27 cataract occasional (7.5%) HP:0000518
28 myopia occasional (7.5%) HP:0000545
29 autism occasional (7.5%) HP:0000717
30 pectus excavatum occasional (7.5%) HP:0000767
31 gynecomastia occasional (7.5%) HP:0000771
32 cafe-au-lait spot occasional (7.5%) HP:0000957
33 hypopigmented skin patches occasional (7.5%) HP:0001053
34 brachydactyly syndrome occasional (7.5%) HP:0001156
35 seizures occasional (7.5%) HP:0001250
36 increased intracranial pressure occasional (7.5%) HP:0002516
37 scoliosis occasional (7.5%) HP:0002650
38 kyphosis occasional (7.5%) HP:0002808
39 melanoma occasional (7.5%) HP:0002861
40 short stature occasional (7.5%) HP:0004322
41 aplasia/hypoplasia of the cerebellum occasional (7.5%) HP:0007360
42 abnormality of the retinal vasculature occasional (7.5%) HP:0008046
43 adenoma sebaceum occasional (7.5%) HP:0009720
44 renal neoplasm occasional (7.5%) HP:0009726
45 bone cyst occasional (7.5%) HP:0012062
46 ovarian neoplasm occasional (7.5%) HP:0100615

UMLS symptoms related to Cowden Disease:


seizures, action tremor

Drugs & Therapeutics for Cowden Disease

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

idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
EverolimusPhase 21863159351-69-66442177
Synonyms:
(1R,9S,12S,15R,16E,18R,19R,21R,23S,24E,26E,28E,30S,32S,35R)-1,18-Dihydroxy-12-((1R)-2-((1S,3R,4R)-4-(2-hydroxyethoxy)-3-methoxycyclohexyl)-1-methylethyl)-19,30-dimethoxy-15,17,21,23,29,35-hexamethyl-11,36-dioxa-4-azatricyclo(30.3.1.0(sup 4,9))hexatriaconta-16,24,26,28-tetraene-2,3,10,14,20-pentaone
(1R,9S,12S,15R,16E,18R,19R,21R,23S,24E,26E,28E,30S,32S,35R)-1,18-Dihydroxy-12-((1R)-2-((1S,3R,4R)-4-(2-hydroxyethoxy)-3-methoxycyclohexyl)-1-methylethyl)-19,30-dimethoxy-15,17,21,23,29,35-hexamethyl-11,36-dioxa-4-azatricyclo(30.3.1.04,9)hexatriaconta-16,24,26,28-tetraene-2,3,10,14,20-pentaone
(1R,9S,12S,15R,16E,23S,18R,19R,21R,23S,24E,26E,28E,30S,32S,35R)-1,18-dihydroxy-12-((1R)-2-((1S,3R,4R)-4-(2-hydroxyethoxy)-3-methoxycyclohexyl)-1-methylethyl)-19,30-dimethoxy-15,17,21,23,29,35-hexamethyl-11,36-dioxa-4-azatricyclo(30.3.1.0(sup 4,9))hexatriacont
(3S,6R,7E,9R,10R,12R,14S,15E,17E,19E,21S,23S,26R,27R,34aS)-9,10,12,13,14,21,22,23,24,25,26,27,32,33,34,34a-Hexadecahydro-9,27-dihydroxy-3-((1R)-2-((1S,3R,4R)-4-(2-hydroxyethoxy)-3-methoxycyclohexyl)-1-methylethyl)-10,21-dimethoxy-6,8,12,14,20,26-hexamethyl-23,27-epoxy-3H-pyrido(2,1-c)(1,4)oxaazacyclohentriacontine-1,5,11,28,29(4H,6H,31H)-pentone
(3S,6R,7E,9R,10R,12R,14S,15E,17E,19E,21S,23S,26R,27R,34aS)-9,27-dihydroxy-3-{(2R)-1-[(1S,3R,4R)-4-(2-hydroxyethoxy)-3-methoxycyclohexyl]propan-2-yl}-10,21-dimethoxy-6,8,12,14,20,26-hexamethyl-9,10,12,13,14,21,22,23,24,25,26,27,32,33,34,34a-hexadecahydro-3H-23,27-epoxypyrido[2,1-c][1,4]oxazacyclohentriacontine-1,5,11,28,29(4H,6H,31H)-pentone
(3S,6R,7E,9R,10R,12R,14S,15E,17E,19E,21S,23S,26R,27R,34as)-9,10,12,13,14,21,22,23,24,25,26,27,32,33,34,34a-hexadecahydro-9,27-dihydroxy-3-((1R)-2-((1S,3R,4R)-4-(2-hydroxyethoxy)-3-methoxycyclohexyl)-1-methylethyl)-10,21-dimethoxy-6,8,12,14,20,26-hexamethy
07741_FLUKA
159351-69-6
40-O-(2-hydroxyethyl)-rapamycin
42-O-(2-Hydroxyethyl)rapamycin
Afinitor
CERTICAN(R)
CHEMBL1201755
Certican
D02714
DB01590
 
Everolimus
Everolimus (JAN/USAN/INN)
Everolimus [USAN]
LS-143292
MolPort-003-847-342
MolPort-003-925-588
NCGC00167512-01
NVP-RAD-001
RAD 001
RAD-001
RAD-001C
RAD001
RAD001, SDZ-RAD, Certican, Zortress, Afinitor, Everolimus
S1120_Selleck
SDZ-RAD
UNII-9HW64Q8G6G
Zortress
everolimus
2
sirolimusPhase 2186353123-88-95284616, 6436030, 46835353
Synonyms:
(-)-Rapamycin
(-)-rapamycin
1fkb
1pbk
23,27-Epoxy-3H-pyrido(2,1-c)(1,4)oxaazacyclohentriacontine
23,27-Epoxy-3H-pyrido[2,1-c][1,4]oxaazacyclohentriacontine
23,27-epoxy-3H-pyrido[2,1-c][1,4]oxaazacyclohentriacontine-1,5,11,28,29
3H-pyrido(2,1-c)(1,4)oxaazacyclohentriacontine-1,5,11,28,29(4H,6H,31H)-pentone
53123-88-9
A422989, NSC226080
AC-722
AC1L1JH9
AC1L7MJ9
AC1L9ZMV
AY 22989
AY-22989
AY22989
Ambotz53123-88-9
Antibiotic AY 22989
BIDD:PXR0165
Bio1_000293
Bio1_000782
Bio1_001271
Bio2_000375
Bio2_000855
BiomolKI2_000084
C07909
C51H79NO13
CBiol_002007
CCRIS 9024
CHEBI:100923
CHEBI:9168
CHEMBL413
CID10213190
CID10795871
CID11949238
CID11959112
CID313006
CID478951
CID5040
CID5284616
CID5358081
CID5374464
CID5460439
CID5497196
CID5924240
CID6436030
CID6610270
CID6610346
CID6711160
CID6713081
CID9833581
CID9854379
CID9854380
CID9962926
CID9962928
D00753
DB00877
DE-109
DivK1c_006936
 
FT-0082351
HMS2089A21
HSDB 7284
KBio1_001880
KBio2_000410
KBio2_002978
KBio2_005546
KBio3_000779
KBio3_000780
KBioGR_000410
KBioSS_000410
LCP-Siro
LMPK06000003
LS-143290
MLS000028373
MS-R001
MolMap_000043
MolPort-003-959-433
NCGC00021305-05
NCI60_001851
NCIMech_000355
NSC 226080
NSC226080
Perceiva
QTL1_000069
R0395_SIAL
R0395_SIGMA
RAP
RAPA
RPM
Rapammune
Rapamune
Rapamune (TN)
Rapamycin
Rapamycin (TN)
Rapamycin C-7, analog 4
Rapamycin Immunosuppressant Drug
Rapamycin from Streptomyces hygroscopicus
S1039_Selleck
SIIA 9268A
SILA 9268A
SILA9268A
SMP1_000255
SMR000058564
Sirolimus
Sirolimus (RAPAMUNE)
Sirolimus (USAN/INN)
Sirolimus [USAN:BAN:INN]
Sirolimus, Rapamune,Rapamycin
SpecPlus_000840
UNII-W36ZG6FT64
UNM-0000358684
WY-090217
Wy 090217
heptadecahydro-9,27-dihydroxy-3-[(1R)-2-[(1S,3R,4R)-4-hydroxy
nchembio.100-comp4
nchembio.2007.42-comp2
nchembio.79-comp1
nchembio762-comp1
nchembio883-comp3
rapamycin
sirolimus
3
MiconazolePhase 2357322916-47-84189
Synonyms:
(+-)-1-(2,4-Dichloro-beta-((2,4-dichlorobenzyl)oxy)phenethyl)imidazole
1-(2,4-Dichloro-beta-((2,4-dichlorobenzyl)oxy)phenethyl)imidazole
1-(2,4-dichloro-beta-((2,4-dichlorobenzyl)oxy)phenethyl) imidazole
1-[2,4-Dichloro- beta-([2,4-dichloro- benzyl]oxy)phenethyl]imidazole
1-[2-(2,4-Dichloro-benzyloxy)-2-(2,4-dichloro-phenyl)-ethyl]-1H-imidazole
1-[2-(2,4-Dichlorophenyl)-2-[(2,4-dichlorophenyl)methoxy]ethyl]-1H-imidazole
1-[2-(2,4-dichlorobenzyloxy)-2-(2,4-dichlorophenyl)ethyl]-1H-imidazole
1-[2-(2,4-dichlorophenyl)-2-[(2,4-dichlorophenyl)methoxy]ethyl]imidazole
1-[2-(2,4-dichlorophenyl)-2-{[(2,4-dichlorophenyl)methyl]oxy}ethyl]-1H-imidazole
1-{2-[(2,4-dichlorobenzyl)oxy]-2-(2,4-dichlorophenyl)ethyl}-1H-imidazole
22832-87-7 (NITRATE)
22916-47-8
75319-47-0
AB00053500
AC1L1HM1
AKOS001574474
Aflorix(nitrate)
Albistat(nitrate)
Andergin(nitrate)
BPBio1_000279
BRD-A82396632-001-03-0
BRD-A82396632-008-02-7
BRN 0965511
BSPBio_000253
BSPBio_002033
CCRIS 7924
CHEBI:6923
CHEMBL91
CID4189
CPD-4501
Conofite(nitrate)
D00416
DB01110
Dactarin
Daktarin IV
Daktarin iv
DivK1c_000156
EINECS 245-324-5
Epi-Monistat(nitrate)
Femizol-M
Florid(nitrate)
Gyno-Daktar(nitrate)
HMS1568M15
HMS2090B21
I14-14342
IDI1_000156
Imidazole, 1-(2-(2,4-dichlorophenyl)-2-((2,4-dichlorophenyl)methoxy)ethyl)- (9CI)
KBio1_000156
KBio2_001445
KBio2_004013
KBio2_006581
KBio3_001533
KBioGR_000581
KBioSS_001445
LS-78378
Lotrimin AF(nitrate)
MCZ
MJR 1762
MLS002222203
Micantin (nitrate)
Miconasil Nitrate
 
Miconazol
Miconazol [INN-Spanish]
Miconazole
Miconazole (JP15/USP/INN)
Miconazole 3
Miconazole 3 Combination Pack
Miconazole 7 Combination Pack
Miconazole [USAN:BAN:INN:JAN]
Miconazole nitrate salt
Miconazole-7
Miconazolo
Miconazolo [DCIT]
Miconazolum
Miconazolum [INN-Latin]
Micozole
Minostate
MolPort-002-557-553
Monazole 7
Monista (nitrate)
Monistat
Monistat (TN)
Monistat 1 Combination Pack
Monistat 3 Dual-Pak
Monistat 3 Vaginal Ovules
Monistat 5 Tampon
Monistat 7 Dual-Pak
Monistat 7 Vaginal Suppositories
Monistat Dual- PAK
Monistat IV
Monistat iv (TN)
Monistat iv (tn)
Monistat-Derm
NCI60_001353
NCI60_001380
NINDS_000156
NSC 170986
NSC169434
NSC170986
Novo-Miconazole Vaginal Ovules
Oprea1_091955
Prestwick0_000067
Prestwick1_000067
Prestwick2_000067
Prestwick3_000067
Prestwick_335
R 18134
R-14,889
SMR001307249
SPBio_000976
SPBio_002174
STK834405
STOCK1S-93556
Spectrum2_001048
Spectrum3_000507
Spectrum4_000061
Spectrum5_001297
Spectrum_000965
UNII-7NNO0D7S5M
Vusion
Zimycan
imidazole, 1-(2-(2,4-dichlorophenyl)-2-((2,4-dichlorophenyl) methoxy)ethyl)- (9CI)
miconazole
4
trastuzumabPhase 1751180288-69-19903
Synonyms:
180288-69-1
Anti HER2
Anti-erbB2 Monoclonal Antibody
D03257
HER2 Monoclonal Antibody
Herceptin
 
Herceptin (TN)
Ig gamma-1 chain C region
Trastuzumab
Trastuzumab (INN)
Trastuzumab (genetical recombination)
Trastuzumab (genetical recombination) (JAN)
trastuzumab
5taxanePhase 1335

Interventional clinical trials:

idNameStatusNCT IDPhase
1Immunogenicity and Safety of Liquid Bivalent Oral Poliomyelitis VaccineCompletedNCT02434770Phase 3
2Sirolimus to Treat Cowden Syndrome and Other PTEN Hamartomatous Tumor SyndromesCompletedNCT00971789Phase 2
3A Phase I/II Study of BGT226 in Adult Patients With Advanced Solid Malignancies Including Patients With Advanced Breast CancerCompletedNCT00600275Phase 1, Phase 2
4A Phase I/II Study of BEZ235 in Patients With Advanced Solid Malignancies Enriched by Patients With Advanced Breast CancerCompletedNCT00620594Phase 1
5Trial of a Falciparum Malaria Protein (FMP012), E. Coli-expressed PfCelTOS, in Healthy Malaria-Naive AdultsCompletedNCT01540474Phase 1
6Safety Study of TPI-287 to Treat CBS and PSPRecruitingNCT02133846Phase 1
7Talking Card for AsthmaCompletedNCT02041013
8French 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 HyperplRecruitingNCT01987518
9ADVANCE ASO AMPLATZER™ Atrial Septal Occluder Post Market Surveillance StudyRecruitingNCT02353351
10Clinical, Genetic, Behavioral, Laboratory and Epidemiologic Characterization of Individuals and Families at High Risk of Breast/Ovarian CancerActive, not recruitingNCT00040222

Search NIH Clinical Center for Cowden Disease


Cochrane evidence based reviews: hamartoma syndrome, multiple

Genetic Tests for Cowden Disease

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Genetic tests related to Cowden Disease:

id Genetic test Affiliating Genes
1 Cowden Syndrome25 23 PTEN

Anatomical Context for Cowden Disease

About this section

MalaCards organs/tissues related to Cowden Disease:

34
Breast, Thyroid, Cerebellum, Uterus, Skin, Kidney, Ovary

Animal Models for Cowden Disease or affiliated genes

About this section

MGI Mouse Phenotypes related to Cowden Disease:

39 (show all 11)
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00020069.1AKT1, BMPR1A, BRCA1, BRCA2, PIK3CA, PTEN
2MP:00053809.1AKT1, BMPR1A, BRCA1, BRCA2, PIK3CA, PTEN
3MP:00053898.4AKT1, BMPR1A, BRCA1, BRCA2, CHGA, FOXI1
4MP:00053858.4AKT1, BMPR1A, BRCA1, CHGA, PIK3CA, PTEN
5MP:00053848.3AKT1, BMPR1A, BRCA1, BRCA2, FOXI1, PIK3CA
6MP:00053798.0AKT1, BMPR1A, BRCA1, BRCA2, CHGA, PIK3CA
7MP:00053767.8AKT1, BMPR1A, BRCA1, BRCA2, CHGA, FOXI1
8MP:00107687.4AKT1, BMPR1A, BRCA1, BRCA2, CHGA, FOXI1
9MP:00053867.4AKT1, BMPR1A, BRCA1, BRCA2, FOXI1, JPH1

Publications for Cowden Disease

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Articles related to Cowden Disease:

(show top 50)    (show all 85)
idTitleAuthorsYear
1
Case 175: Testicular lipomatosis in Cowden disease. (22012908)
2011
2
Testicular hamartomas and epididymal tumor in a cowden disease: a case report. (20589082)
2010
3
Contribution of PTEN large rearrangements in Cowden disease: a multiplex amplifiable probe hybridisation (MAPH) screening approach. (18456716)
2008
4
Type 2 segmental Cowden disease vs. Proteus syndrome: reply from authors. (17999697)
2008
5
Cowden disease: a review. (17394437)
2007
6
Pten loss in the mouse thyroid causes goiter and follicular adenomas: insights into thyroid function and Cowden disease pathogenesis. (17283127)
2007
7
Type 2 segmental Cowden disease vs. Proteus syndrome. (17388921)
2007
8
Storiform collagenoma as a clue for Cowden disease or PTEN hamartoma tumour syndrome. (17513505)
2007
9
Multiple hyperechoic testicular lesions are a common finding on ultrasound in Cowden disease and represent lipomatosis of the testis. (16980675)
2006
10
What is your diagnosis? Cowden disease (multiple hamartoma syndrome). (16903316)
2006
11
Cowden disease. (16377335)
2006
12
Cowden disease: CT findings in three patients. (15812679)
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
Breast cancer, Cowden disease and PTEN-MATCHS syndrome. (11520097)
2001
17
Mutation analysis of the PTEN / MMAC1 gene in Japanese patients with Cowden disease. (10920277)
2000
18
A novel PTEN mutation in a Japanese patient with Cowden disease. (10848731)
2000
19
Lhermitte duclos disease and Cowden disease: clinical, pathological and neuroimaging study of a case. (11327294)
2000
20
Accelerated decline of blood glucose after intravenous glucose injection in a patient with Cowden disease having a heterozygous germline mutation of the PTEN/MMAC1 gene. (10928124)
2000
21
A novel 5' (4041insA) mutation in a patient with numerous manifestations of Cowden disease. (10777358)
2000
22
Transcatheter embolization of arteriovenous malformations in Cowden disease. (10475785)
1999
23
Cowden disease: a cutaneous marker for increased risk of breast cancer. (9930780)
1999
24
Novel PTEN mutations in patients with Cowden disease: absence of clear genotype-phenotype correlations. (10234502)
1999
25
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
26
Thyroid pathologic findings in patients with Cowden disease. (10594284)
1999
27
Cowden disease and Lhermitte Duclos disease, markers of breast carcinoma: report of two patients. (10586343)
1999
28
Germline mutations of the PTEN/MMAC1 gene in Japanese patients with Cowden disease. (9685848)
1998
29
A heterozygous germline mutation of the PTEN/MMAC1 gene in a patient with Cowden disease. (9852263)
1998
30
Mutational abrogation of the PTEN/MMAC1 gene in gastrointestinal polyps in patients with Cowden disease. (9797362)
1998
31
Sporadic breast cancers exhibit loss of heterozygosity on chromosome segment 10q23 close to the Cowden disease locus. (9491329)
1998
32
Lack of chromosome 15q11-q13 region involvement in a family with Cowden disease/Bannayan-Zonana syndrome. (9853579)
1998
33
Carney complex, Peutz-Jeghers syndrome, Cowden disease, and Bannayan-Zonana syndrome share cutaneous and endocrine manifestations, but not genetic loci. (9709978)
1998
34
Identification of a novel PTEN mutation (L139X) in a patient with Cowden disease and SjAPgren's syndrome. (10193515)
1998
35
Loss of heterozygosity in human breast carcinomas in the ataxia telangiectasia, Cowden disease and BRCA1 gene regions. (9018120)
1997
36
Allele loss in colorectal cancer at the Cowden disease/juvenile polyposis locus on 10q. (9242220)
1997
37
Inherited mutations in PTEN that are associated with breast cancer, Cowden disease, and juvenile polyposis. (9399897)
1997
38
Cowden disease. Report of a family and review. (9297442)
1996
39
Localization of the gene for Cowden disease to chromosome 10q22-23. (8673088)
1996
40
Early diagnosis of multiple hamartoma and neoplasia syndrome (Cowden disease). The role of the dentist. (7621006)
1995
41
Dysplastic gangliocytoma of the cerebellum (Lhermitte-Duclos disease) and its relation to the multiple hamartoma syndrome (Cowden disease). (7964980)
1994
42
Lhermitte-Duclos type cerebellum hamartoma and Cowden disease. (7955671)
1994
43
Lhermitte-Duclos disease and Cowden disease: a third case. (1642466)
1992
44
Cowden disease in a young girl: gynecologic and immunologic overview in a case and in the literature. (2649833)
1989
45
Cowden disease: gene marker studies and measurements of epidermal growth factor. (3487976)
1986
46
The association of myasthenia gravis with multiple hamartoma syndrome (Cowden disease) (7436365)
1980
47
Case of the summer season. Diagnosis: Cowden disease (multiple hamartoma syndrome). (7403890)
1980
48
Radiological findings in multiple hamartoma syndrome (Cowden disease): a report of three cases. (7433661)
1980
49
Radiologic manifestations of Cowden disease. (6773349)
1980
50
Cowden disease. (1156682)
1975

Variations for Cowden Disease

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Clinvar genetic disease variations for Cowden Disease:

5
id Gene Variation Type Significance SNP ID Assembly Location
1PTENNM_000314.6(PTEN): c.118G> T (p.Glu40Ter)single nucleotide variantPathogenicrs869312778GRCh38Chr 10, 87894063: 87894063
2PTENNM_000314.6(PTEN): c.424delC (p.Arg142Glyfs)deletionPathogenicrs869312779GRCh38Chr 10, 87933183: 87933183
3PTENNM_000314.6(PTEN): c.767_768delAG (p.Glu256Valfs)deletionPathogenicrs869312780GRCh38Chr 10, 87957985: 87957986

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 all 15)
idSuper pathwaysScoreTop Affiliating Genes
1
Show member pathways
10.0SDHB, SDHC, SDHD
29.9AKT1, PIK3CA, PTEN
39.9AKT1, PIK3CA, PTEN
49.9AKT1, PIK3CA, PTEN
59.9AKT1, PIK3CA, PTEN
69.9AKT1, PIK3CA, PTEN
79.9AKT1, PIK3CA, STK11
89.8AKT1, BRCA1, PTEN
9
Show member pathways
9.7AKT1, PIK3CA, PTEN, STK11
10
Show member pathways
9.6AKT1, BRCA1, PIK3CA, PTEN
11
Show member pathways
9.6AKT1, PIK3CA, SDHB, SDHC, SDHD
129.4AKT1, BRCA1, PIK3CA, PTEN, STK11
13
Show member pathways
9.4AKT1, BRCA1, BRCA2, PIK3CA, PTEN
149.2AKT1, BRCA1, BRCA2, PIK3CA, PTEN, STK11
159.1AKT1, BMPR1A, BRCA1, BRCA2, PTEN, STK11

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
1respiratory chain complex IIGO:004527310.1SDHB, SDHC
2mitochondrial respiratory chain complex II, succinate dehydrogenase complex (ubiquinone)GO:00057499.7SDHB, SDHC, SDHD

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

(show all 10)
idNameGO IDScoreTop Affiliating Genes
1cellular response to decreased oxygen levelsGO:003629410.4AKT1, PTEN
2DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediatorGO:000697810.3BRCA1, BRCA2
3protein kinase B signalingGO:004349110.3AKT1, PIK3CA, PTEN
4negative regulation of cell sizeGO:004579210.3AKT1, PTEN
5chromosome breakageGO:003105210.3BRCA1, BRCA2
6chordate embryonic developmentGO:004300910.3BRCA1, BRCA2
7tricarboxylic acid cycleGO:00060999.9SDHB, SDHC, SDHD
8activation of protein kinase activityGO:00321479.9CALCA, PIK3CA, STK11
9peptidyl-tyrosine dephosphorylationGO:00353359.7CDKN3, DUSP13, PTEN
10cellular response to DNA damage stimulusGO:00069749.6AKT1, BRCA1, BRCA2, STK11

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

idNameGO IDScoreTop Affiliating Genes
1succinate dehydrogenase activityGO:000010410.6SDHC, SDHD
2protein tyrosine/serine/threonine phosphatase activityGO:000813810.0CDKN3, DUSP13, PTEN
3electron carrier activityGO:000905510.0SDHB, SDHC, SDHD
4ubiquinone bindingGO:00480399.8SDHB, SDHD
5protein tyrosine phosphatase activityGO:00047259.6CDKN3, DUSP13, PTEN

Sources for Cowden Disease

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet