MCID: CWD001
MIFTS: 61

Cowden Disease malady

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

Aliases & Classifications for Cowden Disease

About this section
Sources:
10Disease Ontology, 68Wikipedia, 45NIH Rare Diseases, 22GeneTests, 23Genetics Home Reference, 47Novoseek, 12DISEASES, 51Orphanet, 36MeSH, 24GTR, 65UMLS, 42NCIt, 59SNOMED-CT, 28ICD10 via Orphanet, 37MESH via Orphanet, 66UMLS via Orphanet
See all MalaCards sources

Aliases & Descriptions for Cowden Disease:

Name: Cowden Disease 10 45 23 47 12 51
Multiple Hamartoma Syndrome 10 68 45 23 51
Cowden Syndrome 68 45 22 23 51
Lhermitte-Duclos Disease 10 45 51 65
Mham 68 45 23
Dysplastic Gangliocytoma of the Cerebellum 45 51
Hamartoma Syndrome, Multiple 36 65
 
Cowden's Syndrome 23 24
Cowden's Disease 45 23
Cs 45 23
Cd 45 23
Dysplastic Gangliocytoma of Cerebellum 10
Lumbar Disc Disease 65
Ldd 51

Characteristics:

Orphanet epidemiological data:

51
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

Classifications:



External Ids:

Disease Ontology10 DOID:6457
MeSH36 D006223
NCIt42 C3076, C8419
Orphanet51 201, 65285
SNOMED-CT59 58037000, 67944007
ICD10 via Orphanet28 Q85.8, Q04.8
MESH via Orphanet37 D006223
UMLS via Orphanet66 C0018553, C1266181, C0391826
UMLS65 C0018553, C0391826, C0221775

Summaries for Cowden Disease

About this section
NIH Rare Diseases:45 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 6 and gastrointestinal stromal tumor, 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 Regulation of Microtubule Cytoskeleton and PDGFR-beta signaling pathway. Affiliated tissues include breast, thyroid and cerebellum, and related mouse phenotypes are digestive/alimentary and respiratory system.

Disease Ontology:10 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:23 Cowden syndrome is a disorder characterized by multiple noncancerous, tumor-like growths called hamartomas and an increased risk of developing certain cancers.

Wikipedia:68 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

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

(show top 50)    (show all 163)
idRelated DiseaseScoreTop Affiliating Genes
1cowden syndrome 634.2AKT1, BMPR1A, CDKN3, PIK3CA, PTEN
2gastrointestinal stromal tumor30.3AKT1, PTEN, SDHB, SDHC, SDHD
3cowden syndrome 212.5
4cowden syndrome 512.5
5cowden syndrome 412.5
6cowden syndrome 312.5
7cockayne syndrome11.8
8chanarin-dorfman syndrome11.5
9cowden syndrome 111.3
10distal 10q deletion syndrome10.6BMPR1A, PTEN
11familial drusen10.6BMPR1A, PTEN
12ruzicka goerz anton syndrome10.6DUSP13, PTEN
13juvenile overlap myositis10.5BMPR1A, SMAD4
14scrotal carcinoma10.5PIK3CA, PTEN
15braf-related cardiofaciocutaneous syndrome10.5BMPR1A, SMAD4
16congenital pulmonary veins atresia or stenosis10.5BRCA1, BRCA2
17familial stomach cancer10.5SDHB, SDHC, SDHD
18neuroaxonal dystrophy renal tubular acidosis10.5SDHB, SDHC, SDHD
19incontinentia pigmenti achromians10.5PIK3CA, PTEN, SDHB
20paraganglioma and gastric stromal sarcoma10.5SDHB, SDHC, SDHD
21carnitine palmitoyltransferase i deficiency , muscle10.4SDHB, SDHC, SDHD
22adenomyoma10.4SDHB, SDHC, SDHD
23early-onset posterior subcapsular cataract10.4BMPR1A, BRCA2
24neurofibromatosis, familial spinal10.4SDHB, SDHC, SDHD
25bronchiolitis obliterans10.4BRCA1, BRCA2
26glycogen storage disease ib10.4SDHB, SDHC, SDHD
27constant exophthalmos10.4SDHB, SDHC, SDHD
28autoimmune polyendocrine syndrome type 110.4BRCA1, BRCA2
29autoimmune disease of urogenital tract10.4BRCA1, BRCA2
30malignant testicular leydig cell tumor10.4BRCA1, BRCA2
31breast cancer, childhood10.4BRCA1, BRCA2
32cataract hutterite type10.4RET, SDHB, SDHD
33internal auditory canal lipoma10.4BRCA1, BRCA2, PTEN
34gallbladder adenoma10.4RET, SDHB, SDHD
35brca2 hereditary breast and ovarian cancer syndrome10.4BRCA1, BRCA2
36cataract 4, multiple types10.4RET, SDHB, SDHD
37bscl2-related neurologic disorders/seipinopathy10.4BRCA2, PIK3CA
38synchronous bilateral breast carcinoma10.4BRCA1, BRCA2, PTEN
39retinitis10.4
40microphthalmia, syndromic 410.4AKT1, PTEN, STK11
41glioma susceptibility 210.4BMPR1A, CDKN3, PTEN, SMAD4
42pancreatic cancer 410.3BRCA1, BRCA2
43multiple endocrine neoplasia iib10.3RET, SDHB, SDHD
44fallopian tube adenofibroma10.3BRCA1, BRCA2, PIK3CA
45pancreatic serous cystadenocarcinoma10.3BRCA1, BRCA2
46periocular meningioma10.3BRCA1, BRCA2, PTEN
47myopathy with deficiency of iron-sulfur cluster assembly enzyme10.3RET, SDHC, SDHD
48uterine carcinosarcoma10.3BRCA1, BRCA2, PIK3CA
49tenosynovitis of foot and ankle10.3AKT1, PIK3CA, PTEN
50familial capillaro-venous leptomeningeal angiomatosis10.3BRCA1, BRCA2, KLLN

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



Diseases related to cowden disease

Symptoms for Cowden Disease

About this section

Symptoms:

 51 (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 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

Drugs & Therapeutics for Cowden Disease

About this section

FDA approved drugs:

id Drug Name Active Ingredient(s)15 Company Approval Date
1
Provenge15 41 sipuleucel-T Dendreon May 2010
FDA Label: Provenge
Disease/s that Drug Treats:hormone refractory prostate cancer
Indications and Usage:15 PROVENGE is an autologous cellularimmunotherapy indicated for the treatment ofasymptomatic or minimally symptomatic metastaticcastrate resistant (hormone refractory) prostatecancer. (1)
DrugBank Targets: -
Mechanism of Action:15 
Target: PAP
Action: inducer of immune response against this antigen expressed in most prostate cancers
FDA: PROVENGE is classified as an autologous cellular immunotherapy. While the precisemechanism of action is unknown, PROVENGE is designed to induce an immune responsetargeted against PAP, an antigen expressed in most prostate cancers. During ex vivo culturewith PAP-GM-CSF, APCs take up and process the recombinant target antigen into smallpeptides that are then displayed on the APC surface.In Study 1, 237 out of the 512 patients randomized were evaluated for the development ofhumoral and T cell immune responses (proliferative and gamma-interferon (γIFN) ELISPOT)to the target antigens at Baseline, and at Weeks 6, 14, and 26. Antibody (IgM and IgG)responses against PAP-GM-CSF and PAP antigen alone were observed through thefollow-up period in the PROVENGE group. Neutralizing antibody responses to GM-CSFwere transient. T cell proliferative and γIFN ELISPOT responses to PAP-GM-CSF fusionprotein were observed in cells collected from peripheral blood of patients through thefollow-up period in the PROVENGE treatment group but not in controls. In some patients aresponse to PAP antigen alone was observed. No conclusions could be made regarding theclinical significance of the observed immune responses.
2
Oralair15 Greer Labs April 2014
FDA Label: -
Disease/s that Drug Treats:grass pollen-induced allergic rhinitis with or without conjunctivitis
Indications and Usage:15 -
DrugBank Targets: -
Mechanism of Action:15 
Target: -
Action: -
FDA: -

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

(show all 15)
idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1Immunologic FactorsPhase 3, Phase 218483
2VaccinesPhase 3, Phase 16085
3
Miconazoleapproved, investigationalPhase 2302622916-47-84189
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
Desenex
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
Makesense
Micantin (nitrate)
Micatin
 
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
Oravig
Prestwick0_000067
Prestwick1_000067
Prestwick2_000067
Prestwick3_000067
Prestwick_335
R 18134
R-14,889
Rash Relief Antifungal
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
Sirolimusapproved, investigationalPhase 2179753123-88-95284616, 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
5
EverolimusapprovedPhase 21797159351-69-66442177
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
Afinitor Disperz
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
VOTUBIA
Zortress
everolimus
6RadiopharmaceuticalsPhase 2362
7Immunosuppressive AgentsPhase 210422
8Fluorodeoxyglucose F18Phase 2356
9Anti-Infective AgentsPhase 217220
10Antibiotics, AntitubercularPhase 25971
11Anti-Bacterial AgentsPhase 29140
12Antifungal AgentsPhase 23015
13
Trastuzumabapproved, investigationalPhase 1726180288-69-19903
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
14Tubulin ModulatorsPhase 14279
15taxanePhase 1324

Interventional clinical trials:

(show all 11)
idNameStatusNCT IDPhase
1Immunogenicity and Safety of Liquid Bivalent Oral Poliomyelitis VaccineActive, not recruitingNCT02434770Phase 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
7Multiple Ascending Dose Study of Intravenously Administered BMS-986168 in Patients With Progressive Supranuclear PalsyRecruitingNCT02460094Phase 1
8Talking Card for AsthmaCompletedNCT02041013
9French 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
10ADVANCE ASO AMPLATZER™ Atrial Septal Occluder Post Market Surveillance StudyRecruitingNCT02353351
11Clinical, 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 Syndrome22 PTEN

Anatomical Context for Cowden Disease

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MalaCards organs/tissues related to Cowden Disease:

33
Breast, Thyroid, Cerebellum, Uterus, Skin, Kidney, Tongue

Animal Models for Cowden Disease or affiliated genes

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MGI Mouse Phenotypes related to Cowden Disease:

38 (show all 25)
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053819.3BRCA1, BRCA2, PTEN, RET, SEC23B, SMAD4
2MP:00053889.1AKT1, BMPR1A, BRCA1, PTEN, RET, SEC23B
3MP:00053679.1BRCA1, PTEN, RET, SMAD4, STK11, TSC1
4MP:00028738.6AKT1, BMPR1A, BRCA1, BRCA2, PTEN, RET
5MP:00107718.6AKT1, BMPR1A, BRCA1, BRCA2, PIK3CA, PTEN
6MP:00053878.4AKT1, BMPR1A, BRCA1, BRCA2, PIK3CA, PTEN
7MP:00053698.4AKT1, BMPR1A, BRCA1, JPH1, PIK3CA, PTEN
8MP:00053898.3AKT1, BMPR1A, BRCA1, BRCA2, PIK3CA, PTEN
9MP:00053978.3AKT1, BMPR1A, BRCA1, BRCA2, PTEN, RET
10MP:00053808.2AKT1, BMPR1A, BRCA1, BRCA2, PIK3CA, PTEN
11MP:00020068.2AKT1, BMPR1A, BRCA1, BRCA2, PIK3CA, PTEN
12MP:00036318.1AKT1, BMPR1A, BRCA1, BRCA2, PIK3CA, PTEN
13MP:00053858.0AKT1, BMPR1A, BRCA1, PIK3CA, PTEN, RET
14MP:00053798.0AKT1, BMPR1A, BRCA1, BRCA2, PIK3CA, PTEN
15MP:00053847.8AKT1, BMPR1A, BRCA1, BRCA2, PIK3CA, PTEN
16MP:00053767.8AKT1, BMPR1A, BRCA1, BRCA2, PIK3CA, PTEN
17MP:00053787.8AKT1, BMPR1A, BRCA1, BRCA2, PIK3CA, PTEN
18MP:00053867.5AKT1, BMPR1A, BRCA1, BRCA2, JPH1, PIK3CA
19MP:00107687.1AKT1, BMPR1A, BRCA1, BRCA2, JPH1, PIK3CA

Publications for Cowden Disease

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Articles related to Cowden Disease:

(show top 50)    (show all 84)
idTitleAuthorsYear
1
Villonodular synovitis shoulder complicated by rotator cuff rupture. (27068614)
2016
2
A case of hemorrhagic cholecystitis associated with Churg-Strauss syndrome. (26853987)
2016
3
PEGylated cationic nanoemulsions can efficiently bind and transfect pIDUA in a mucopolysaccharidosis type I murine model. (25886705)
2015
4
Loss-of-function mutations in PTPN6 promote STAT3 deregulation via JAK3 kinase in diffuse large B-cell lymphoma. (26565811)
2015
5
Evaluation of function and structure of arterial wall in girls and young women with Turner syndrome. (25833355)
2015
6
Female-specific rectal carcinogenesis in cyclin D1b transgenic mice. (23975835)
2014
7
Phenobarbital-induced severe cutaneous adverse drug reactions are associated with CYP2C19*2 in Thai children. (23551241)
2013
8
Lupus miliaris disseminatus faciei involving the scalp resulted in cicatricial alopecia. (23834618)
2013
9
Everolimus in advanced or metastatic breast cancer. (24427832)
2013
10
Peripheral cemento-ossifying fibroma: case series literature review. (23365762)
2013
11
ZNRF3 acts as a tumour suppressor by the Wnt signalling pathway in human gastric adenocarcinoma. (23504200)
2013
12
Enlargement of the Nissl substance as a manifestation of early damage to spinal cord motoneurons in amyotrophic lateral sclerosis. (23743157)
2013
13
IL-1RN VNTR polymorphism as a susceptibility marker for nasopharyngeal carcinoma in Portugal. (23562526)
2013
14
Apparent heparin resistance in a patient with infective endocarditis secondary to elevated factor VIII levels. (22302637)
2012
15
Histopathologically proven autoimmune pancreatitis mimicking neuroendocrine tumor or pancreatic cancer. (22423237)
2012
16
microRNA-146a targets the L1 cell adhesion molecule and suppresses the metastatic potential of gastric cancer. (22711166)
2012
17
Expression of the novel human gene, UBE2Q1, in breast tumors. (22167327)
2012
18
Clinicopathological study of non-palpable familial breast cancer detected by screening mammography and diagnosed as DCIS. (22875640)
2012
19
Regulation of Overnutrition-Induced Cardiac Inflammatory Mechanisms. (22969779)
2012
20
Genomic imprinting and Turner syndrome. (22946286)
2012
21
Refractory ulcerative chronic pouchitis in a patient with Gardner syndrome following restorative proctocolectomy with ileal pouch-anal anastomosis. (22149567)
2011
22
Role of CD137 signaling in dengue virus-mediated apoptosis. (21669186)
2011
23
Incretins: do they exert cardiovascular effects?]. (20467925)
2010
24
Expression of human beta-defensin after endoscopic sinus surgery for chronic sinusitis]. (20650771)
2010
25
Aortic valve-sparing in 37 patients with Marfan syndrome: midterm results with David operation. (20103213)
2010
26
Subcutaneous phaeohyphomycosis caused by Cladophialophora boppii. (21079316)
2010
27
Bispyridinium dienes: histone deacetylase inhibitors with selective activities. (17447750)
2007
28
Mutations of the PTPN11 gene in therapy-related MDS and AML with rare balanced chromosome translocations. (17330262)
2007
29
Sclareol induces apoptosis in human HCT116 colon cancer cells in vitro and suppression of HCT116 tumor growth in immunodeficient mice. (17260186)
2007
30
Massive osteolysis (Gorham's disease) affecting the femur. (16889136)
2006
31
Electron-conformational model of ryanodine receptor lattice dynamics. (16061275)
2006
32
Paraneoplastic pemphigus revealing dendritic cell sarcoma originating from Castleman's disease of the neck]. (15746607)
2005
33
Identification of differentially regulated genes during elongation and early implantation in the ovine trophoblast using complementary DNA array screening. (15616222)
2005
34
Loss of vision and renal function in a patient with miliary tuberculosis. (15770343)
2005
35
Steroid profiling by tandem mass spectrometry improves the positive predictive value of newborn screening for congenital adrenal hyperplasia. (15292289)
2004
36
Cloning and expression of a novel CREB mRNA splice variant in human testis. (15579595)
2004
37
Early onset, non-progressive, mild cerebellar ataxia co-segregating with a familial balanced translocation t(8;20)(p22;q13). (14985396)
2004
38
Enaptin, a giant actin-binding protein, is an element of the nuclear membrane and the actin cytoskeleton. (15093733)
2004
39
Caspase-mediated Cleavage of Insulin Receptor Substrate. (15069074)
2004
40
Increased expression of cytotoxic effector molecules: different interpretations for steroid-based and steroid-free immunosuppression. (12581329)
2003
41
Na/Ca exchanger overexpression induces endoplasmic reticulum stress, caspase-12 release, and apoptosis. (15033764)
2003
42
K(+) channel-blocking alkoxypsoralens inhibit the immune response of encephalitogenic T line cells and lymphocytes from Lewis rats challenged for experimental autoimmune encephalomyelitis. (10822089)
2000
43
Round-spotted pufferfish (Tetraodon fluviatilis) snf5 gene is oriented in a tail-to-tail manner with the set gene which encodes an inhibitor of protein phosphatase 2A. (9468224)
1998
44
A newly identified gene cluster in Aspergillus nidulans comprises five novel genes localized in the alc region that are controlled both by the specific transactivator AlcR and the general carbon-catabolite repressor CreA. (8736527)
1996
45
Analysis of the acute ophthalmic manifestations of the erythema multiforme/Stevens-Johnson syndrome/toxic epidermal necrolysis disease spectrum. (9098260)
1995
46
Pulpal pressure and bond strengths of SuperBond and Gluma. (1906717)
1991
47
Tumor necrosis factor-alpha mRNA accumulation in human myelomonocytic cell lines. Role of transcriptional regulation by DNA sequence motifs and mRNA stabilization. (1909740)
1991
48
Diagnosis of herpes simplex encephalitis. A comparison between electroencephalography and computed tomography findings. (7148389)
1982
49
Submandibular sialolithiasis in a cystic fibrosis patient. (4745161)
1973
50
Shift of writing function to minor hemisphere at the age of seventy-two years; report of case with advanced left cerebral atrophy. (12997924)
1952

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.344A> G (p.Asp115Gly)single nucleotide variantLikely pathogenicrs869312775GRCh38Chr 10, 87933103: 87933103
2PTENNM_000314.6(PTEN): c.408T> G (p.Cys136Trp)single nucleotide variantLikely pathogenicrs869312776GRCh38Chr 10, 87933167: 87933167
3PTENNM_000314.6(PTEN): c.486C> G (p.Asp162Glu)single nucleotide variantLikely pathogenicrs869312777GRCh38Chr 10, 87933245: 87933245
4PTENNM_000314.6(PTEN): c.118G> T (p.Glu40Ter)single nucleotide variantPathogenicrs869312778GRCh38Chr 10, 87894063: 87894063
5PTENNM_000314.6(PTEN): c.424delC (p.Arg142Glyfs)deletionPathogenicrs869312779GRCh38Chr 10, 87933183: 87933183
6PTENNM_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 37)
idSuper pathwaysScoreTop Affiliating Genes
19.9AKT1, PIK3CA, PTEN
29.9AKT1, PIK3CA, PTEN
39.9AKT1, PIK3CA, PTEN
49.8AKT1, PIK3CA, STK11
5
Show member pathways
9.8AKT1, PIK3CA, STK11
69.7AKT1, TSC1, TSC2
79.6BRCA1, SMAD4, TSC2
89.6AKT1, PIK3CA, PTEN, RET
9
Show member pathways
9.6AKT1, PIK3CA, PTEN, TSC2
109.6AKT1, BMPR1A, PIK3CA, SMAD4
119.6AKT1, BRCA1, PTEN, SMAD4
12
Show member pathways
9.6AKT1, BRCA2, PIK3CA, SMAD4
13
Show member pathways
9.6AKT1, PIK3CA, SDHB, SDHC, SDHD
14
Show member pathways
9.5AKT1, PTEN, TSC1, TSC2
159.5AKT1, PTEN, TSC1, TSC2
169.5AKT1, PTEN, TSC1, TSC2
17
Show member pathways
9.5AKT1, PIK3CA, TSC1, TSC2
18
Show member pathways
9.4AKT1, STK11, TSC1, TSC2
19
Show member pathways
9.4AKT1, PIK3CA, PTEN, SMAD4, STK11
209.4SMAD4, STK11, TSC1, TSC2
21
Show member pathways
9.3AKT1, PIK3CA, PTEN, SMAD4, TSC2
22
Show member pathways
9.3AKT1, PIK3CA, PTEN, TSC1, TSC2
239.3AKT1, PIK3CA, PTEN, TSC1, TSC2
24
Show member pathways
9.3AKT1, PTEN, STK11, TSC1, TSC2
25
Show member pathways
9.3AKT1, PTEN, STK11, TSC1, TSC2
26
Show member pathways
9.2AKT1, PIK3CA, STK11, TSC1, TSC2
27
Show member pathways
9.2AKT1, PIK3CA, STK11, TSC1, TSC2
28
Show member pathways
9.2AKT1, PIK3CA, STK11, TSC1, TSC2
299.1AKT1, BRCA2, PIK3CA, PTEN, RET, SMAD4
30
Show member pathways
9.1AKT1, PIK3CA, PTEN, STK11, TSC1, TSC2
31
Show member pathways
9.1AKT1, BRCA1, PIK3CA, PTEN, TSC1, TSC2
32
Show member pathways
9.0AKT1, BRCA1, PTEN, STK11, TSC1, TSC2
338.9AKT1, BRCA1, BRCA2, PIK3CA, PTEN, SMAD4
348.8AKT1, BRCA1, PIK3CA, PTEN, STK11, TSC1
35
Show member pathways
8.8AKT1, BRCA1, BRCA2, PIK3CA, PTEN, TSC1
368.3AKT1, BMPR1A, BRCA1, BRCA2, PTEN, SMAD4
37
Show member pathways
8.1AKT1, BMPR1A, BRCA1, BRCA2, CDKN3, PIK3CA

GO Terms for genes affiliated with Cowden Disease

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

(show all 15)
idNameGO IDScoreTop Affiliating Genes
1insulin-like growth factor receptor signaling pathwayGO:004800910.6AKT1, TSC2
2cell projection organizationGO:003003010.6AKT1, TSC1
3positive regulation of histone H3-K9 acetylationGO:200061710.5BRCA1, SMAD4
4negative regulation of cell sizeGO:004579210.5AKT1, TSC1
5vasculature developmentGO:000194410.4PIK3CA, STK11
6DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediatorGO:000697810.3BRCA1, BRCA2
7chordate embryonic developmentGO:004300910.3BRCA1, BRCA2
8phosphatidylinositol-mediated signalingGO:004801510.2AKT1, PTEN, TSC2
9protein kinase B signalingGO:004349110.2AKT1, PIK3CA, TSC2
10negative regulation of phosphatidylinositol 3-kinase signalingGO:001406710.1PTEN, TSC2
11transcription initiation from RNA polymerase II promoterGO:00063679.8AKT1, PTEN, SMAD4, TSC1
12regulation of cell cycleGO:00517269.7PTEN, TSC1, TSC2
13peptidyl-tyrosine dephosphorylationGO:00353359.7CDKN3, DUSP13, PTEN
14cellular response to DNA damage stimulusGO:00069749.7AKT1, BRCA1, BRCA2, STK11
15insulin receptor signaling pathwayGO:00082869.4AKT1, PIK3CA, STK11, TSC1, TSC2

Sources for Cowden Disease

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet