MCID: CWD001
MIFTS: 64

Cowden Disease malady

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

Aliases & Classifications for Cowden Disease

About this section
Sources:
10Disease Ontology, 68Wikipedia, 45NIH Rare Diseases, 22GeneTests, 23Genetics Home Reference, 47Novoseek, 12DISEASES, 51Orphanet, 24GTR, 65UMLS, 36MeSH, 59SNOMED-CT, 42NCIt, 29ICD9CM, 28ICD10 via Orphanet, 37MESH via Orphanet, 66UMLS via Orphanet
See all sources

Aliases & Descriptions for Cowden Disease:

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


Classifications:



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


External Ids:

Disease Ontology10 DOID:6457
NCIt42 C3076, C8419
MeSH36 D006223
ICD9CM29 759.6
SNOMED-CT59 67944007, 58037000
Orphanet51 201, 65285
ICD10 via Orphanet28 Q85.8, Q04.8
MESH via Orphanet37 D006223
UMLS via Orphanet66 C0018553, C0391826, C1266181

Summaries for Cowden Disease

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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 system disease, and has symptoms including macrocephaly, uterine neoplasm and neoplasm of the breast. An important gene associated with Cowden Disease is KLLN (Killin, P53-Regulated DNA Replication Inhibitor), 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 respiratory system and muscle.

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

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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 704)
idRelated DiseaseScoreTop Affiliating Genes
1cowden syndrome 631.0AKT1, BMPR1A, CDKN3, PIK3CA, PTEN
2gastrointestinal system disease30.6AKT1, PIK3CA, PTEN, SDHB, SDHC, SDHD
3nutritional deficiency disease30.3BRCA1, BRCA2
4bannayan-riley-ruvalcaba syndrome30.2BMPR1A, CDKN3, PTEN, SMAD4
5malignant peripheral nerve sheath tumor30.2BRCA1, BRCA2, PIK3CA
6bile duct adenocarcinoma30.1BRCA1, BRCA2, PTEN
7gastrointestinal stromal tumor30.0AKT1, PTEN, SDHB, SDHC, SDHD
8male reproductive system disease29.9AKT1, BRCA1, BRCA2, PTEN
9thyroid gland disease29.9CALCA, PIK3CA, PTEN, RET
10protein r deficiency29.9BMPR1A, SMAD4
11female reproductive system disease29.8AKT1, BRCA1, BRCA2, PIK3CA, PTEN
12renal cell carcinoma29.6AKT1, KLLN, PIK3CA, PTEN, SDHB, SDHD
13lateral medullary syndrome29.5BRCA1, STK11, TSC1, TSC2
14kidney disease29.2AKT1, PIK3CA, PTEN, SDHB, TSC1, TSC2
15medulloblastoma10.6
16cowden syndrome 410.6
17cowden syndrome 210.5
18cowden syndrome 510.5
19cowden syndrome 310.5
20crohn's disease10.5
21adult medulloblastoma10.5
22inflammatory bowel disease 110.5
23gastroenteritis10.5
24holoprosencephaly10.4
25inflammatory bowel disease 210.4
26pten hamartoma tumor syndrome10.4
27malaria10.4
28foix-alajouanine syndrome10.4BMPR1A, PTEN
29cockayne syndrome, type a10.4
30inflammatory bowel disease 1010.4
31hydrocephalus10.3
32polydactyly10.3
33dysembryoplastic neuroepithelial tumor10.3
34ossifying fibroma10.3
35neuronitis10.3
36syringomyelia10.3
37obstructive hydrocephalus10.3
38neurofibromatosis10.3
39ganglioglioma10.3
40fibroma10.3
41mutism10.3
42astrocytoma10.3
43ependymoma10.3
44split cord malformation10.3
45breast cancer10.3
46inflammatory bowel disease 310.3
47parasitic protozoa infectious disease10.3
48primary malignant melanoma of the cervix10.3PIK3CA, PTEN
49clivus meningioma10.3AKT1, PTEN
50visual verbal agnosia10.3PIK3CA, PTEN

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:

 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

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

(show all 7)
idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
Miconazoleapproved, investigationalPhase 2291222916-47-84189
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
2
Sirolimusapproved, investigationalPhase 2174253123-88-95284616, 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
EverolimusapprovedPhase 21742159351-69-66442177
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
4RadiopharmaceuticalsPhase 2345
5Fluorodeoxyglucose F18Phase 2340
6
Trastuzumabapproved, investigationalPhase 1688180288-69-19903
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
7taxanePhase 1313

Interventional clinical trials:

(show all 11)
idNameStatusNCT IDPhase
1Immunogenicity and Safety of Liquid Bivalent Oral Poliomyelitis VaccineRecruitingNCT02434770Phase 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
10Clinical, Genetic, Behavioral, Laboratory and Epidemiologic Characterization of Individuals and Families at High Risk of Breast/Ovarian CancerRecruitingNCT00040222
11ADVANCE ASO AMPLATZER™ Atrial Septal Occluder Post Market Surveillance StudyRecruitingNCT02353351

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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 24 PTEN

Anatomical Context for Cowden Disease

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MalaCards organs/tissues related to Cowden Disease:

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

Animal Models for Cowden Disease or affiliated genes

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MGI Mouse Phenotypes related to Cowden Disease:

38 (show all 21)
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053888.9AKT1, BMPR1A, BRCA1, CALCA, PTEN, RET
2MP:00053698.8AKT1, BMPR1A, BRCA1, PIK3CA, PTEN, RET
3MP:00053678.4BRCA1, CALCA, CHGA, PTEN, RET, SMAD4
4MP:00028738.3AKT1, BMPR1A, BRCA1, BRCA2, CALCA, PTEN
5MP:00107718.3AKT1, BMPR1A, BRCA1, BRCA2, CALCA, PIK3CA
6MP:00053848.1AKT1, BMPR1A, BRCA1, BRCA2, PIK3CA, PTEN
7MP:00053807.8AKT1, BMPR1A, BRCA1, BRCA2, CALCA, PIK3CA
8MP:00020067.7AKT1, BMPR1A, BRCA1, BRCA2, CALCA, PIK3CA
9MP:00053867.7AKT1, BMPR1A, BRCA1, BRCA2, CALCA, PIK3CA
10MP:00036317.7AKT1, BMPR1A, BRCA1, BRCA2, CALCA, PIK3CA
11MP:00053787.7AKT1, BMPR1A, BRCA1, BRCA2, CHGA, PIK3CA
12MP:00053857.6AKT1, BMPR1A, BRCA1, CALCA, CHGA, PIK3CA
13MP:00053897.3AKT1, BMPR1A, BRCA1, BRCA2, CHGA, PIK3CA
14MP:00107687.2AKT1, BMPR1A, BRCA1, BRCA2, CALCA, CHGA
15MP:00053767.1AKT1, BMPR1A, BRCA1, BRCA2, CALCA, CHGA
16MP:00053797.0AKT1, BMPR1A, BRCA1, BRCA2, CHGA, PIK3CA

Publications for Cowden Disease

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Articles related to Cowden Disease:

(show top 50)    (show all 84)
idTitleAuthorsYear
1
Postoperative Dural Arteriovenous Fistula in a Patient with Cowden Disease: A Case Report. (23680687)
2013
2
Cowden disease and multicystic dysplastic kidney: increased risk of renal cancer? (26019827)
2012
3
Contribution of PTEN large rearrangements in Cowden disease: a multiplex amplifiable probe hybridisation (MAPH) screening approach. (18456716)
2008
4
Skin abnormalities in individuals with macrocephaly: Cowden disease from a dermatologist's point of view. (18986487)
2008
5
Storiform collagenoma as a clue for Cowden disease or PTEN hamartoma tumour syndrome. (17513505)
2007
6
Testicular mixed germ cell tumor in an adolescent with cowden disease. (18160807)
2007
7
Cowden disease: a review. (17394437)
2007
8
Pten loss in the mouse thyroid causes goiter and follicular adenomas: insights into thyroid function and Cowden disease pathogenesis. (17283127)
2007
9
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
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:

5 (show all 12)
id Gene Variation Type Significance SNP ID Assembly Location
1PIK3CANM_006218.2(PIK3CA): c.1634A> C (p.Glu545Ala)single nucleotide variantPathogenicrs121913274GRCh37Chr 3, 178936092: 178936092
2PIK3CANM_006218.2(PIK3CA): c.353G> A (p.Gly118Asp)single nucleotide variantPathogenicrs587777790GRCh38Chr 3, 179199690: 179199690
3PIK3CANM_006218.2(PIK3CA): c.403G> A (p.Glu135Lys)single nucleotide variantPathogenicrs587777791GRCh38Chr 3, 179199740: 179199740
4PIK3CANM_006218.2(PIK3CA): c.652G> A (p.Glu218Lys)single nucleotide variantPathogenicrs587777792GRCh38Chr 3, 179201379: 179201379
5PIK3CANM_006218.2(PIK3CA): c.1066G> A (p.Val356Ile)single nucleotide variantPathogenicrs587777793GRCh37Chr 3, 178922297: 178922297
6PIK3CANM_006218.2(PIK3CA): c.1145G> A (p.Arg382Lys)single nucleotide variantPathogenicrs587777794GRCh38Chr 3, 179204588: 179204588
7PIK3CANM_006218.2(PIK3CA): c.1634A> C (p.Glu545Ala)single nucleotide variantPathogenicrs121913274GRCh37Chr 3, 178936092: 178936092
8PIK3CANM_006218.2(PIK3CA): c.1895T> G (p.Leu632Ter)single nucleotide variantPathogenicrs587777796GRCh38Chr 3, 179219719: 179219719
9AKT1NM_001014431.1(AKT1): c.73C> T (p.Arg25Cys)single nucleotide variantPathogenicrs397514644GRCh37Chr 14, 105246527: 105246527
10AKT1NM_001014431.1(AKT1): c.1303A> C (p.Thr435Pro)single nucleotide variantPathogenicrs397514645GRCh37Chr 14, 105237142: 105237142
11KLLNKLLN, PROMOTER HYPERMETHYLATIONundetermined variantPathogenic
12SDHDNM_003002.3(SDHD): c.433C> A (p.His145Asn)single nucleotide variantPathogenicrs121908984GRCh37Chr 11, 111965647: 111965647

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 pathways (with members indented)ScoreTop Affiliating Genes
19.9AKT1, PIK3CA, PTEN
29.9AKT1, PIK3CA, PTEN
39.9AKT1, PIK3CA, PTEN
49.9AKT1, PIK3CA, STK11
5
VEGF Pathway (Tocris)
Show member pathways
9.8AKT1, PIK3CA, STK11
69.7AKT1, CHGA, PIK3CA
79.7AKT1, CHGA, PIK3CA
89.7AKT1, TSC1, TSC2
99.6BRCA1, SMAD4, TSC2
109.6AKT1, BMPR1A, PIK3CA, SMAD4
11
Show member pathways
9.6AKT1, PIK3CA, PTEN, TSC2
12
Show member pathways
9.6AKT1, BRCA2, PIK3CA, SMAD4
139.6AKT1, BRCA1, PTEN, SMAD4
149.6AKT1, CHGA, TSC2
159.6AKT1, PIK3CA, PTEN, RET
16
Show member pathways
9.5AKT1, PIK3CA, SDHB, SDHC, SDHD
17
Show member pathways
9.5AKT1, PTEN, TSC1, TSC2
189.5AKT1, PTEN, TSC1, TSC2
199.5AKT1, PTEN, TSC1, TSC2
209.5AKT1, PIK3CA, TSC1, TSC2
21
Show member pathways
9.5AKT1, STK11, TSC1, TSC2
22
Show member pathways
9.4AKT1, PIK3CA, PTEN, SMAD4, STK11
239.4SMAD4, STK11, TSC1, TSC2
24
Show member pathways
9.3AKT1, PIK3CA, PTEN, SMAD4, TSC2
259.3AKT1, PIK3CA, PTEN, TSC1, TSC2
269.3AKT1, PIK3CA, PTEN, TSC1, TSC2
27
Show member pathways
9.3AKT1, PIK3CA, PTEN, TSC1, TSC2
28
Show member pathways
9.3AKT1, PIK3CA, STK11, TSC1, TSC2
29
Show member pathways
9.3AKT1, PIK3CA, STK11, TSC1, TSC2
30
Show member pathways
9.2AKT1, CHGA, PIK3CA, PTEN, TSC2
31
Show member pathways
9.1AKT1, PIK3CA, PTEN, STK11, TSC1, TSC2
329.1AKT1, BRCA2, PIK3CA, PTEN, RET, SMAD4
33
Show member pathways
9.1AKT1, BRCA1, PIK3CA, PTEN, TSC1, TSC2
349.0AKT1, BRCA1, BRCA2, PIK3CA, PTEN, SMAD4
358.9AKT1, BRCA1, PIK3CA, PTEN, STK11, TSC1
36
Show member pathways
8.8AKT1, BRCA1, BRCA2, PIK3CA, PTEN, TSC1
378.3AKT1, BMPR1A, BRCA1, BRCA2, PTEN, SMAD4

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:004527310.6SDHB, SDHC
2mitochondrial respiratory chain complex II, succinate dehydrogenase complex (ubiquinone)GO:000574910.4SDHB, SDHC, SDHD
3TSC1-TSC2 complexGO:003359610.3TSC1, TSC2
4protein complexGO:00432349.3AKT1, BRCA1, BRCA2, STK11, TSC1

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

(show all 23)
idNameGO IDScoreTop Affiliating Genes
1negative regulation of phosphatidylinositol 3-kinase signalingGO:001406710.6PTEN, TSC2
2positive regulation of histone H3-K9 acetylationGO:200061710.6BRCA1, SMAD4
3positive regulation of SMAD protein import into nucleusGO:006039110.6BMPR1A, SMAD4
4insulin-like growth factor receptor signaling pathwayGO:004800910.6AKT1, TSC2
5cellular response to decreased oxygen levelsGO:003629410.6AKT1, PTEN
6positive regulation of protein localization to nucleusGO:190018210.6AKT1, STK11
7DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediatorGO:000697810.5BRCA1, BRCA2
8chromosome breakageGO:003105210.5BRCA1, BRCA2
9chordate embryonic developmentGO:004300910.5BRCA1, BRCA2
10tricarboxylic acid cycleGO:000609910.5SDHB, SDHC, SDHD
11negative regulation of cell sizeGO:004579210.4AKT1, PTEN, TSC1
12vasculature developmentGO:000194410.3CALCA, PIK3CA, STK11
13endothelial cell migrationGO:004354210.3CALCA, PIK3CA, PTEN
14protein kinase B signalingGO:004349110.2AKT1, PIK3CA, PTEN, TSC2
15negative regulation of protein kinase activityGO:000646910.1AKT1, DUSP19, TSC2
16phosphatidylinositol-mediated signalingGO:004801510.0AKT1, PIK3CA, PTEN, TSC2
17activation of protein kinase activityGO:00321479.8CALCA, DUSP19, PIK3CA, STK11
18transcription initiation from RNA polymerase II promoterGO:00063679.7AKT1, PTEN, SMAD4, TSC1, TSC2
19cell cycle arrestGO:00070509.6CDKN3, KLLN, STK11, TSC1, TSC2
20negative regulation of cell proliferationGO:00082859.2CDKN3, PTEN, SMAD4, STK11, TSC1, TSC2
21insulin receptor signaling pathwayGO:00082869.2AKT1, PIK3CA, STK11, TSC1, TSC2
22protein phosphorylationGO:00064689.1AKT1, BMPR1A, CALCA, PIK3CA, RET, STK11
23innate immune responseGO:00450878.9AKT1, CALCA, CHGA, PIK3CA, PTEN, TSC2

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

idNameGO IDScoreTop Affiliating Genes
1succinate dehydrogenase activityGO:000010410.5SDHC, SDHD
2ubiquinone bindingGO:004803910.5SDHB, SDHD
3succinate dehydrogenase (ubiquinone) activityGO:000817710.5SDHB, SDHC
4protein kinase activator activityGO:00302959.9DUSP19, PIK3CA, STK11
5electron carrier activityGO:00090559.9SDHB, SDHC, SDHD
6protein tyrosine/serine/threonine phosphatase activityGO:00081389.3CDKN3, DUSP19, PTEN

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