Cowden Syndrome disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

MCID: CWD010 MIFTS: 68	Cowden Syndrome Categories: Cancer diseases, Cardiovascular diseases, Eye diseases, Fetal diseases, Gastrointestinal diseases, Genetic diseases, Neuronal diseases, Rare diseases, Skin diseases
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Aliases & Classifications for Cowden Syndrome

MalaCards integrated aliases for Cowden Syndrome:

Name: Cowden Syndrome ¹² ⁷⁷ ⁵⁴ ²⁶ ⁶⁰ ³⁸ ³⁰ ⁶ ¹⁵ ⁴¹

Lhermitte-Duclos Disease ¹² ⁷⁷ ⁵⁴ ³⁰ ⁶

Cowden Disease ¹² ⁵⁴ ²⁶ ⁶⁰ ⁵⁶

Multiple Hamartoma Syndrome ¹² ⁵⁴ ²⁶ ⁶⁰

Cowden's Disease ⁷⁷ ⁵⁴ ²⁶

Mham ⁵⁴ ²⁶

Cs ⁵⁴ ²⁶

Cd ⁵⁴ ²⁶

Dysplastic Gangliocytoma of the Cerebellum ⁵⁴

Dysplastic Gangliocytoma of Cerebellum ¹²

Hamartoma Syndrome, Multiple ⁴⁵

Cowden's Syndrome ²⁶

Characteristics:

Orphanet epidemiological data:

⁶⁰

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

Classifications:

MalaCards categories:
Global: Rare diseases Fetal diseases Genetic diseases Cancer diseases
Anatomical: Gastrointestinal diseases Skin diseases Eye diseases Neuronal diseases Cardiovascular diseases

See all MalaCards categories (disease lists)

ICD10: ³⁵

Congenital malformations, deformations and chromosomal abnormalities

Other congenital malformations

Phakomatoses, not elsewhere classified

Other phakomatoses, not elsewhere classified

Orphanet: ⁶⁰

Rare gastroenterological diseases

Rare skin diseases

Developmental anomalies during embryogenesis

External Ids:

Disease Ontology ¹² DOID:6457

KEGG ³⁸ H01222

MeSH ⁴⁵ D006223

NCIt ⁵¹ C3076

SNOMED-CT ⁶⁹ 58037000

MESH via Orphanet ⁴⁶ D006223

ICD10 via Orphanet ³⁵ Q85.8

UMLS via Orphanet ⁷⁵ C0018553

Orphanet ⁶⁰ ORPHA201

SNOMED-CT via HPO ⁷⁰ 103276001 111266001 112629002 more

UMLS ⁷⁴ C0018553 C0391826

Sources

Summaries for Cowden Syndrome

NIH Rare Diseases : ⁵⁴ Cowden syndrome is an inherited condition that is characterized primarily by multiple, noncancerous growths (called hamartomas) on various parts of the body. People with the syndrome usually have large head (macrocephaly), benign tumors of the hair follicle (trichilemmomas), and white papules with a smooth surface in the mouth (papillomatous papules), starting by the late 20s. It is considered part of the PTEN Hamartoma Tumor Syndrome spectrum which also includes Bannayan-Riley-Ruvalcaba syndrome and Proteus syndrome. People who have Cowden syndrome are 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 mutations in the PTEN gene and are inherited in an autosomal dominant manner. Management typically includes screening for associated tumors and/or prophylactic surgeries.

MalaCards based summary : Cowden Syndrome, also known as lhermitte-duclos disease, is related to cowden syndrome 1 and proteus syndrome, and has symptoms including seizures, action tremor and cerebellar ataxia. An important gene associated with Cowden Syndrome is PTEN (Phosphatase And Tensin Homolog), and among its related pathways/superpathways are Focal Adhesion and Endometrial cancer. The drugs Miconazole and Sirolimus have been mentioned in the context of this disorder. Affiliated tissues include breast, thyroid and cerebellum, and related phenotypes are generalized hyperkeratosis and palmoplantar keratoderma

Disease Ontology : ¹² 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.

Genetics Home Reference : ²⁶ Cowden syndrome is a disorder characterized by multiple noncancerous, tumor-like growths called hamartomas and an increased risk of developing certain cancers.

Wikipedia : ⁷⁷ Cowden syndrome (also known as Cowden''s disease and multiple hamartoma syndrome) is an autosomal... more...

Sources

Related Diseases for Cowden Syndrome

Diseases in the Cowden Syndrome family:

Cowden Syndrome 1	Cowden Syndrome 4
Cowden Syndrome 5	Cowden Syndrome 6
Cowden Syndrome 7

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

(show top 50) (show all 616)

#	Related Disease	Score	Top Affiliating Genes
1	cowden syndrome 1	34.0	AKT1 BMPR1A CDKN3 EGFR KLLN PTEN
2	proteus syndrome	32.7	AKT1 CDKN3 PIK3CA PTEN
3	gastric cancer	31.8	AKT1 EGFR MIR21 PIK3CA PTEN SMAD4
4	medulloblastoma	31.1	AKT1 BRCA2 EGFR MIR19A PIK3CA PTEN
5	neurofibromatosis, type iv, of riccardi	30.8	SDHB SDHC SDHD
6	lipomatosis	30.8	PIK3CA PTEN SDHB
7	juvenile polyposis syndrome	30.6	BMPR1A PTEN SMAD4
8	endometrial cancer	30.5	AKT1 BRCA2 CDKN3 EGFR PIK3CA PTEN
9	adenocarcinoma	30.3	AKT1 EGFR PIK3CA PTEN SMAD4
10	peutz-jeghers syndrome	30.2	BRCA2 PTEN SMAD4
11	glioblastoma multiforme	30.2	AKT1 EGFR MIR21 PIK3CA PTEN
12	li-fraumeni syndrome	30.1	BRCA2 EGFR PTEN
13	von hippel-lindau syndrome	30.1	SDHB SDHC SDHD
14	gastric adenocarcinoma	30.1	AKT1 EGFR PIK3CA PTEN SMAD4
15	macrocephaly/autism syndrome	30.1	KLLN PTEN
16	squamous cell carcinoma	30.0	AKT1 EGFR PIK3CA PTEN SMAD4
17	breast cancer	30.0	AKT1 BMPR1A BRCA2 CDKN3 EGFR KLLN
18	glioblastoma	30.0	AKT1 BRCA2 EGFR MIR21 PIK3CA PTEN
19	small cell cancer of the lung	29.9	AKT1 EGFR MIR21 PIK3CA PTEN
20	gastrointestinal stromal tumor	29.9	AKT1 EGFR PTEN SDHB SDHC SDHD
21	ovarian cancer	29.8	AKT1 BRCA2 EGFR MIR21 PIK3CA PTEN
22	glioma	29.7	BRCA2 EGFR MIR19A MIR21 PIK3CA PTEN
23	pancreatic cancer	29.5	AKT1 BRCA2 EGFR MIR21 PIK3CA SMAD4
24	hepatocellular carcinoma	29.4	AKT1 CDKN3 EGFR MIR19A MIR21 PIK3CA
25	prostate cancer	29.0	AKT1 BRCA2 CDKN3 EGFR MIR21 PIK3CA
26	cowden syndrome 7	12.6
27	cowden syndrome 4	12.5
28	cowden syndrome 5	12.5
29	cowden syndrome 6	12.5
30	cockayne syndrome	11.9
31	xeroderma pigmentosum, complementation group g	11.8
32	castleman disease	11.8
33	chanarin-dorfman syndrome	11.8
34	xeroderma pigmentosum, complementation group d	11.7
35	xeroderma pigmentosum, complementation group f	11.7
36	xeroderma pigmentosum, complementation group b	11.7
37	epilepsy occipital calcifications	11.6
38	primary pigmented nodular adrenocortical disease	11.5
39	acth-independent macronodular adrenal hyperplasia	11.5
40	conduct disorder	11.4
41	cardiogenic shock	11.4
42	thyroxine-binding globulin quantitative trait locus	11.4
43	oppositional defiant disorder	11.4
44	conversion disorder	11.4
45	cockayne syndrome a	11.3
46	diabetes mellitus, noninsulin-dependent	11.3
47	mucopolysaccharidosis, type vii	11.3
48	mitochondrial metabolism disease	11.3
49	cerebrooculofacioskeletal syndrome 1	11.2
50	body mass index quantitative trait locus 11	11.2

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

Sources

Symptoms & Phenotypes for Cowden Syndrome

Human phenotypes related to Cowden Syndrome:

⁶⁰ ³³ (show top 50) (show all 58)

#	Description	HPO Frequency	Orphanet Frequency	HPO Source Accession
1	generalized hyperkeratosis ⁶⁰ ³³	hallmark (90%)	Very frequent (99-80%)	HP:0005595
2	palmoplantar keratoderma ⁶⁰ ³³	hallmark (90%)	Very frequent (99-80%)	HP:0000982
3	goiter ⁶⁰ ³³	hallmark (90%)	Very frequent (99-80%)	HP:0000853
4	macule ⁶⁰ ³³	hallmark (90%)	Very frequent (99-80%)	HP:0012733
5	breast carcinoma ⁶⁰ ³³	hallmark (90%)	Very frequent (99-80%)	HP:0003002
6	papule ⁶⁰ ³³	hallmark (90%)	Very frequent (99-80%)	HP:0200034
7	colorectal polyposis ⁶⁰ ³³	hallmark (90%)	Very frequent (99-80%)	HP:0200063
8	papilloma ⁶⁰ ³³	hallmark (90%)	Very frequent (99-80%)	HP:0012740
9	conjunctival hamartoma ⁶⁰ ³³	hallmark (90%)	Very frequent (99-80%)	HP:0100780
10	macrocephaly ⁶⁰ ³³	frequent (33%)	Frequent (79-30%)	HP:0000256
11	intellectual disability ⁶⁰ ³³	frequent (33%)	Frequent (79-30%)	HP:0001249
12	ataxia ⁶⁰ ³³	frequent (33%)	Frequent (79-30%)	HP:0001251
13	macroglossia ⁶⁰ ³³	frequent (33%)	Frequent (79-30%)	HP:0000158
14	global developmental delay ⁶⁰ ³³	frequent (33%)	Frequent (79-30%)	HP:0001263
15	cognitive impairment ⁶⁰ ³³	frequent (33%)	Frequent (79-30%)	HP:0100543
16	subcutaneous nodule ⁶⁰ ³³	frequent (33%)	Frequent (79-30%)	HP:0001482
17	cavernous hemangioma ⁶⁰ ³³	frequent (33%)	Frequent (79-30%)	HP:0001048
18	melanocytic nevus ⁶⁰ ³³	frequent (33%)	Frequent (79-30%)	HP:0000995
19	mucosal telangiectasiae ⁶⁰ ³³	frequent (33%)	Frequent (79-30%)	HP:0100579
20	meningioma ⁶⁰ ³³	frequent (33%)	Frequent (79-30%)	HP:0002858
21	abnormality of the penis ⁶⁰ ³³	frequent (33%)	Frequent (79-30%)	HP:0000036
22	furrowed tongue ⁶⁰ ³³	frequent (33%)	Frequent (79-30%)	HP:0000221
23	hamartomatous polyposis ⁶⁰ ³³	frequent (33%)	Frequent (79-30%)	HP:0004390
24	adenoma sebaceum ⁶⁰ ³³	frequent (33%)	Frequent (79-30%)	HP:0009720
25	lipoma ⁶⁰ ³³	frequent (33%)	Frequent (79-30%)	HP:0012032
26	pectus excavatum ⁶⁰ ³³	occasional (7.5%)	Occasional (29-5%)	HP:0000767
27	high palate ⁶⁰ ³³	occasional (7.5%)	Occasional (29-5%)	HP:0000218
28	seizures ⁶⁰ ³³	occasional (7.5%)	Occasional (29-5%)	HP:0001250
29	failure to thrive ⁶⁰ ³³	occasional (7.5%)	Occasional (29-5%)	HP:0001508
30	scoliosis ⁶⁰ ³³	occasional (7.5%)	Occasional (29-5%)	HP:0002650
31	kyphosis ⁶⁰ ³³	occasional (7.5%)	Occasional (29-5%)	HP:0002808
32	hearing impairment ⁶⁰ ³³	occasional (7.5%)	Occasional (29-5%)	HP:0000365
33	cataract ⁶⁰ ³³	occasional (7.5%)	Occasional (29-5%)	HP:0000518
34	increased intracranial pressure ⁶⁰ ³³	occasional (7.5%)	Occasional (29-5%)	HP:0002516
35	short stature ⁶⁰ ³³	occasional (7.5%)	Occasional (29-5%)	HP:0004322
36	autism ⁶⁰ ³³	occasional (7.5%)	Occasional (29-5%)	HP:0000717
37	myopia ⁶⁰ ³³	occasional (7.5%)	Occasional (29-5%)	HP:0000545
38	melanoma ⁶⁰ ³³	occasional (7.5%)	Occasional (29-5%)	HP:0002861
39	hypopigmented skin patches ⁶⁰ ³³	occasional (7.5%)	Occasional (29-5%)	HP:0001053
40	renal cell carcinoma ⁶⁰ ³³	occasional (7.5%)	Occasional (29-5%)	HP:0005584
41	cellular immunodeficiency ⁶⁰ ³³	occasional (7.5%)	Occasional (29-5%)	HP:0005374
42	multiple cafe-au-lait spots ⁶⁰ ³³	occasional (7.5%)	Occasional (29-5%)	HP:0007565
43	brachydactyly ⁶⁰ ³³	occasional (7.5%)	Occasional (29-5%)	HP:0001156
44	gynecomastia ⁶⁰ ³³	occasional (7.5%)	Occasional (29-5%)	HP:0000771
45	enlarged polycystic ovaries ⁶⁰ ³³	occasional (7.5%)	Occasional (29-5%)	HP:0008675
46	follicular thyroid carcinoma ⁶⁰ ³³	occasional (7.5%)	Occasional (29-5%)	HP:0006731
47	bone cyst ⁶⁰ ³³	occasional (7.5%)	Occasional (29-5%)	HP:0012062
48	endometrial carcinoma ⁶⁰ ³³	occasional (7.5%)	Occasional (29-5%)	HP:0012114
49	abnormal cerebellum morphology ³³	occasional (7.5%)		HP:0001317
50	neoplasm ⁶⁰		Frequent (79-30%)

UMLS symptoms related to Cowden Syndrome:

seizures, action tremor, cerebellar ataxia

GenomeRNAi Phenotypes related to Cowden Syndrome according to GeneCards Suite gene sharing:

²⁷ (show all 40)

#	Description	GenomeRNAi Source Accession	Score	Top Affiliating Genes
1	Decreased viability	GR00055-A-2	10.54	EGFR PIK3CA
2	Decreased viability	GR00221-A-1	10.54	AKT1 BMPR1A EGFR PIK3CA SDHD
3	Decreased viability	GR00221-A-2	10.54	AKT1 BMPR1A PIK3CA SDHD
4	Decreased viability	GR00221-A-3	10.54	AKT1 BMPR1A
5	Decreased viability	GR00221-A-4	10.54	AKT1 BMPR1A EGFR PIK3CA SDHD
6	Decreased viability	GR00381-A-1	10.54	SDHD
7	Decreased viability	GR00402-S-2	10.54	AKT1 BMPR1A EGFR PIK3CA SDHD
8	Increased shRNA abundance (Z-score > 2)	GR00366-A-107	9.92	SMAD4
9	Increased shRNA abundance (Z-score > 2)	GR00366-A-11	9.92	SMAD4
10	Increased shRNA abundance (Z-score > 2)	GR00366-A-116	9.92	PIK3CA
11	Increased shRNA abundance (Z-score > 2)	GR00366-A-151	9.92	PTEN
12	Increased shRNA abundance (Z-score > 2)	GR00366-A-152	9.92	PTEN
13	Increased shRNA abundance (Z-score > 2)	GR00366-A-157	9.92	PIK3CA
14	Increased shRNA abundance (Z-score > 2)	GR00366-A-16	9.92	AKT1 PIK3CA PTEN
15	Increased shRNA abundance (Z-score > 2)	GR00366-A-166	9.92	PIK3CA
16	Increased shRNA abundance (Z-score > 2)	GR00366-A-168	9.92	PTEN
17	Increased shRNA abundance (Z-score > 2)	GR00366-A-177	9.92	AKT1 PIK3CA
18	Increased shRNA abundance (Z-score > 2)	GR00366-A-182	9.92	USF2
19	Increased shRNA abundance (Z-score > 2)	GR00366-A-190	9.92	PIK3CA
20	Increased shRNA abundance (Z-score > 2)	GR00366-A-195	9.92	SMAD4
21	Increased shRNA abundance (Z-score > 2)	GR00366-A-21	9.92	SMAD4
22	Increased shRNA abundance (Z-score > 2)	GR00366-A-214	9.92	PTEN
23	Increased shRNA abundance (Z-score > 2)	GR00366-A-25	9.92	SMAD4
24	Increased shRNA abundance (Z-score > 2)	GR00366-A-35	9.92	USF2
25	Increased shRNA abundance (Z-score > 2)	GR00366-A-42	9.92	AKT1 PIK3CA PTEN SMAD4 USF2
26	Increased shRNA abundance (Z-score > 2)	GR00366-A-43	9.92	SMAD4
27	Increased shRNA abundance (Z-score > 2)	GR00366-A-46	9.92	SMAD4
28	Increased shRNA abundance (Z-score > 2)	GR00366-A-49	9.92	PIK3CA
29	Increased shRNA abundance (Z-score > 2)	GR00366-A-50	9.92	AKT1
30	Increased shRNA abundance (Z-score > 2)	GR00366-A-54	9.92	SMAD4
31	Increased shRNA abundance (Z-score > 2)	GR00366-A-63	9.92	PTEN USF2
32	Increased shRNA abundance (Z-score > 2)	GR00366-A-70	9.92	AKT1
33	Increased shRNA abundance (Z-score > 2)	GR00366-A-73	9.92	SMAD4
34	Increased shRNA abundance (Z-score > 2)	GR00366-A-74	9.92	SMAD4
35	Increased shRNA abundance (Z-score > 2)	GR00366-A-79	9.92	AKT1
36	Increased shRNA abundance (Z-score > 2)	GR00366-A-81	9.92	SMAD4
37	Increased shRNA abundance (Z-score > 2)	GR00366-A-85	9.92	AKT1 USF2
38	Increased shRNA abundance (Z-score > 2)	GR00366-A-93	9.92	PTEN
39	Decreased sensitivity to paclitaxel	GR00112-A-0	9.26	PTEN SMAD4
40	Increased mitotic index	GR00110-A-0	9.26	BMPR1A SDHD SMAD4 TNS1

MGI Mouse Phenotypes related to Cowden Syndrome:

⁴⁷

#	Description	MGI Source Accession	Score	Top Affiliating Genes
1	homeostasis/metabolism	MP:0005376	10.15	AKT1 BMPR1A BRCA2 EGFR PIK3CA PTEN
2	endocrine/exocrine gland	MP:0005379	10.13	AKT1 BMPR1A BRCA2 EGFR PIK3CA PTEN
3	embryo	MP:0005380	10.11	AKT1 BMPR1A BRCA2 EGFR PIK3CA PTEN
4	hematopoietic system	MP:0005397	10.1	AKT1 BMPR1A BRCA2 EGFR PTEN SDHB
5	mortality/aging	MP:0010768	10.07	AKT1 BMPR1A BRCA2 EGFR PIK3CA PTEN
6	integument	MP:0010771	9.97	AKT1 BMPR1A BRCA2 EGFR PIK3CA PTEN
7	neoplasm	MP:0002006	9.85	AKT1 BMPR1A BRCA2 EGFR PIK3CA PTEN
8	normal	MP:0002873	9.65	AKT1 BMPR1A BRCA2 EGFR PTEN SDHB
9	reproductive system	MP:0005389	9.32	AKT1 BMPR1A BRCA2 EGFR PIK3CA PTEN

Sources

Drugs & Therapeutics for Cowden Syndrome

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

(show all 14)

Name

Status

Phase

Clinical Trials

Cas Number

PubChem Id

Miconazole

Approved, Investigational, Vet_approved

Phase 2

22916-47-8

4189

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-(2,4-dichlorobenzyloxy)-2-(2,4-dichlorophenyl)ethyl]-1H-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-dichlorophenyl)-2-[(2,4-dichlorophenyl)methoxy]ethyl]imidazole

1-[2-(2,4-dichlorophenyl)-2-{[(2,4-dichlorophenyl)methyl]oxy}ethyl]-1H-imidazole

1-[2,4-Dichloro- beta-([2,4-dichloro- benzyl]oxy)phenethyl]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

Aflorix(nitrate)

AKOS001574474

Albistat(nitrate)

Andergin(nitrate)

BPBio1_000279

BRD-A82396632-001-03-0

BRD-A82396632-008-02-7

Brentan

BRN 0965511

BSPBio_000253

BSPBio_002033

CCRIS 7924

CHEBI:6923

CHEMBL91

CID4189

Conofite(nitrate)

CPD-4501

D00416

Dactarin

Daktarin IV

DB01110

DivK1c_000156

EINECS 245-324-5

Epi-Monistat(nitrate)

Esteve brand OF miconazole

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)

Imidazole, 1-(2-(2,4-dichlorophenyl)-2-((2,4-dichlorophenyl)methoxy)ethyl)- (9CI)

Janssen cilag brand OF miconazole

Janssen-cilag brand OF miconazole

Johnston and johnston brand OF miconazole nitrate

KBio1_000156

KBio2_001445

KBio2_004013

KBio2_006581

KBio3_001533

KBioGR_000581

KBioSS_001445

Lotrimin AF(nitrate)

LS-78378

MCZ

Micantin (nitrate)

Miconasil nitrate

Miconasil Nitrate

Miconazol

Miconazol [INN-Spanish]

miconazole

Miconazole

Miconazole (JP15/USP/INN)

Miconazole [USAN:BAN:INN:JAN]

Miconazole 3

Miconazole 3 Combination Pack

Miconazole 7 Combination Pack

Miconazole esteve brand

Miconazole janssen-cilag brand

Miconazole nitrate

Miconazole nitrate salt

Miconazole-7

Miconazolo

Miconazolo [DCIT]

Miconazolum

Miconazolum [INN-Latin]

Micozole

Minostate

MJR 1762

MLS002222203

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-Derm

NCI60_001353

NCI60_001380

NINDS_000156

Nitrate, miconasil

Nitrate, miconazole

Novo-Miconazole Vaginal Ovules

NSC 170986

NSC169434

NSC170986

Oprea1_091955

Prestwick_335

Prestwick0_000067

Prestwick1_000067

Prestwick2_000067

Prestwick3_000067

R 18134

R-14,889

SMR001307249

SPBio_000976

SPBio_002174

Spectrum_000965

Spectrum2_001048

Spectrum3_000507

Spectrum4_000061

Spectrum5_001297

STK834405

STOCK1S-93556

UNII-7NNO0D7S5M

Vusion

Zimycan

Sirolimus

Approved, Investigational

Phase 2

53123-88-9

46835353 5284616 6436030

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

AC1L1JH9

AC1L7MJ9

AC1L9ZMV

AC-722

Ambotz53123-88-9

Antibiotic AY 22989

AY 22989

AY22989

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

heptadecahydro-9,27-dihydroxy-3-[(1R)-2-[(1S,3R,4R)-4-hydroxy

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

MolMap_000043

MolPort-003-959-433

MS-R001

NCGC00021305-05

nchembio.100-comp4

nchembio.2007.42-comp2

nchembio.79-comp1

nchembio762-comp1

nchembio883-comp3

NCI60_001851

NCIMech_000355

NSC 226080

NSC226080

Perceiva

QTL1_000069

R0395_SIAL

R0395_SIGMA

RAP

RAPA

Rapammune

Rapamune

Rapamune (TN)

rapamycin

Rapamycin

Rapamycin (TN)

Rapamycin C-7, analog 4

Rapamycin from Streptomyces hygroscopicus

Rapamycin Immunosuppressant Drug

RPM

S1039_Selleck

SIIA 9268A

SILA 9268A

SILA9268A

sirolimus

Sirolimus

Sirolimús

Sirolimus (RAPAMUNE)

Sirolimus (USAN/INN)

Sirolimus [USAN:BAN:INN]

Sirolimus, Rapamune,Rapamycin

Sirolimusum

SMP1_000255

SMR000058564

SpecPlus_000840

UNII-W36ZG6FT64

UNM-0000358684

Wy 090217

WY-090217

Everolimus

Approved

Phase 2

159351-69-6

70789204 6442177

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-hexamethy

(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

001, RAD

07741_FLUKA

159351-69-6

40-O-(2-hydroxyethyl)-rapamycin

40-O-(2-Hydroxyethyl)-rapamycin

42-O-(2-Hydroxyethyl)rapamycin

Afinitor

Certican

CERTICAN(R)

CHEMBL1201755

D02714

DB01590

everolimus

Everolimus

évérolimus

Everolimus (JAN/USAN/INN)

Everolimus [USAN]

LS-143292

MolPort-003-847-342

MolPort-003-925-588

NCGC00167512-01

NVP-RAD-001

RAD 001

RAD, SDZ

RAD001

RAD-001

RAD001, SDZ-RAD, Certican, Zortress, Afinitor, Everolimus

RAD-001C

S1120_Selleck

SDZ RAD

SDZ-RAD

UNII-9HW64Q8G6G

Zortress

Fluorodeoxyglucose F18

Phase 2

Anti-Bacterial Agents

Phase 2

Anti-Infective Agents

Phase 2

Immunosuppressive Agents

Phase 2

Immunologic Factors

Phase 2

Antibiotics, Antitubercular

Phase 2

Antifungal Agents

Phase 2

Radiopharmaceuticals

Phase 2

Trastuzumab

Approved, Investigational

Phase 1

180288-69-1

9903

Synonyms:

180288-69-1

Anti HER2

Anti-erbB2 Monoclonal Antibody

D03257

HER2 Monoclonal Antibody

Herceptin

Herceptin (TN)

Ig gamma-1 chain C region

RHUMAB HER2

trastuzumab

Trastuzumab

Trastuzumab (genetical recombination)

Trastuzumab (genetical recombination) (JAN)

Trastuzumab (INN)

trastuzumab-dkst

trastuzumab-dttb

trastuzumab-pkrb

trastuzumab-qyyp

Dactolisib

Investigational

Phase 1

915019-65-7

Antineoplastic Agents, Immunological

Phase 1

Interventional clinical trials:

#	Name	Status	NCT ID	Phase	Drugs
1	Sirolimus to Treat Cowden Syndrome and Other PTEN Hamartomatous Tumor Syndromes	Completed	NCT00971789	Phase 2	sirolimus
2	A Phase I/II Study of BGT226 in Adult Patients With Advanced Solid Malignancies Including Patients With Advanced Breast Cancer	Completed	NCT00600275	Phase 1, Phase 2	BGT226
3	A Phase I/II Study of BEZ235 in Patients With Advanced Solid Malignancies Enriched by Patients With Advanced Breast Cancer	Completed	NCT00620594	Phase 1	BEZ235
4	Clinical, Genetic, Behavioral, Laboratory and Epidemiologic Characterization of Individuals and Families at High Risk of Breast/Ovarian Cancer	Completed	NCT00040222
5	French Digestive Polyposis Cohorte Family Adenomatous Polyposis With APC and MYH Gene Mutations , Cowden's Disease With PTEN Gene Mutation, Peutz Jeghers Disease With STK 11 Gene Mutation ,juvénil Polyposis With SMAD 4 Gene Mutation , Serrated and Hyperplastic Polyposis	Recruiting	NCT01987518
6	Liquid Biopsy Evaluation and Repository Development at Princess Margaret	Recruiting	NCT03702309

Search NIH Clinical Center for Cowden Syndrome

Cochrane evidence based reviews: hamartoma syndrome, multiple

Sources

Genetic Tests for Cowden Syndrome

Genetic tests related to Cowden Syndrome:

#	Genetic test	Affiliating Genes
1	Cowden Syndrome ³⁰
2	Lhermitte-Duclos Disease ³⁰

Sources

Anatomical Context for Cowden Syndrome

MalaCards organs/tissues related to Cowden Syndrome:

⁴²

Breast, Thyroid, Cerebellum, Bone, Skin, Uterus, Ovary

Sources

Publications for Cowden Syndrome

Articles related to Cowden Syndrome:

(show top 50) (show all 451)

#	Title	Authors	Year
1	Lhermitte-Duclos Disease with Cervical Arteriovenous Fistula. ( 30517962 )	Almubarak AO...Shail EA	2019
2	Undifferentiated pleomorphic sarcoma in a patient with Cowden syndrome after radiotherapy for breast cancer. ( 30047560 )	Hatta N...Horita Y	2019
3	Variable expressivity and novel PTEN mutations in Cowden syndrome. ( 30316882 )	Machado RA...Coletta RD	2019
4	Ovarian Clear Cell Carcinoma in Cowden Syndrome. ( 30659124 )	Yauy K...Corsini C	2019
5	Endometrial Endometrioid Carcinoma With Ovarian Metastasis Showing Morula-like Features in a Patient With Cowden Syndrome: A Case Report. ( 30676432 )	Kuno I...Kato T	2019
6	A case of Cowden syndrome associated with melanoma: the role of the dermatologist. ( 30717572 )	Roberti V...Giustini S	2019
7	Is Malignant Germ-Cell Tumor Associated With Cowden Syndrome? ( 30733184 )	Rushin L...Bagrodia A	2019
8	Giant cerebral aneurysm in a patient with Cowden syndrome treated with surgical clipping; a case report. ( 30904793 )	Toh K...Yamamoto J	2019
9	Bilateral Recurrent Dysplastic Cerebellar Gangliocytoma (Lhermitte Duclos Disease) in Cowden Syndrome: A Case Report and Literature Review. ( 30905649 )	Khandpur U...Elder JB	2019
10	Cowden syndrome caused by a novel mutation: Endoscopy aided diagnosis. ( 30952542 )	Bronswijk M...Roelandt P	2019
11	Cowden syndrome: gastrointestinal manifestations of an infrequent polyposis. ( 31096272 )	Mendez D...Olano C	2019
12	Clinical Perspective on Dysplastic Gangliocytoma of the Cerebellum (Lhermitte-Duclos Disease). ( 30366139 )	Ma J...Jia W	2019
13	Lhermitte-Duclos disease: A case report with radiologic-pathologic correlation. ( 30988866 )	Cheng CS...Yeh LR	2019
14	Spinal Extradural Arteriovenous Fistula with Cowden Syndrome: A Case Report and Literature Review Regarding Pathogenesis and Therapeutic Strategy. ( 30327747 )	Takei J...Murayama Y	2018
15	Unusual presenting manifestation of a rare polyposis, Cowden syndrome. ( 28716492 )	Ad?n Merino L...Valent?n G?mez F	2018
16	Cowden Syndrome with a Novel PTEN Mutation Presenting with Partial Epilepsy Related to Focal Cortical Dysplasia. ( 29033429 )	Adachi T...Kowa H	2018
17	Intramucosal lipomas of the colon implicate Cowden syndrome. ( 29192650 )	Caliskan A...Bronner MP	2018
18	Tumor-induced osteomalacia in association with PTEN-negative Cowden syndrome. ( 29380000 )	Berglund JA...Collins MT	2018
19	Novel Germline PTEN Mutation Associated with Cowden Syndrome and Osteosarcoma. ( 29496690 )	Lopez C...Coppola D	2018
20	Unexpected cancer-predisposition gene variants in Cowden syndrome and Bannayan-Riley-Ruvalcaba syndrome patients without underlying germline PTEN mutations. ( 29684080 )	Yehia L...Eng C	2018
21	Cowden syndrome. ( 29894252 )	Taghavi A...Akhgar A	2018
22	Cowden syndrome and pituitary tumours. ( 29931205 )	Srichomkwun P...Snabboon T	2018
23	Cowden Syndrome Associated with Severe Periodontal Disease: A Short Literature Review and a Case Report. ( 29946579 )	Peri? M...Brecx M	2018
24	Gastrointestinal: Multiple venous malformations and polyps of the small intestine in Cowden syndrome. ( 29952025 )	Harada A...Esaki M	2018
25	Neuroimaging abnormalities in patients with Cowden syndrome: Retrospective single-center study. ( 30105160 )	Dhamija R...Hoxworth JM	2018
26	Cowden Syndrome: A Cause of Pulmonary Cysts. ( 30142139 )	Parvinian A...Hartman TE	2018
27	Increased 18F-FDG Uptake in Lhermitte-Duclos Disease With Cowden Syndrome Revealed by PET-MRI. ( 30153148 )	Piekarski E...Kas A	2018
28	Early Onset Multiple Primary Tumors in Atypical Presentation of Cowden Syndrome Identified by Whole-Exome-Sequencing. ( 30233642 )	Cavaill? M...Bignon YJ	2018
29	A longitudinally extensive myelopathy associated with multiple spinal arteriovenous fistulas in a patient with Cowden syndrome: a case report. ( 26795104 )	Barreras P...Pardo CA	2018
30	Childhood Lhermitte-Duclos Disease Progressing to Medulloblastoma in Bilateral Cerebellar Hemispheres: Report of Unusual Case. ( 29966776 )	Dutta G...Jagetia A	2018
31	Lhermitte-Duclos Disease: A Rare Lesion with Variable Presentations and Obscure Histopathology. ( 25371023 )	?nder E...Alper M	2018
32	An Unusual Case of Lhermitte-Duclos Disease Manifesting with Intratumoral Hemorrhage. ( 29625313 )	Uchida D...Tanaka T	2018
33	Lhermitte-Duclos Disease in a Six-Year Old Child: A Rare Presentation. ( 30304734 )	Ezgu MC...Izci Y	2018
34	Cowden Syndrome: Serendipitous Diagnosis in Patients with Significant Breast Disease. Case Series and Literature Review. ( 27886412 )	Heaney RM...Murray D	2017
35	Gastrointestinal Polyposis in Cowden Syndrome. ( 27661969 )	Shaco-Levy R...Bronner MP	2017
36	Multiple clear cell acanthomas and a sebaceous lymphadenoma presenting in a patient with Cowden syndrome - a case report. ( 27682856 )	Potenziani S...Diwan AH	2017
37	Diffuse Esophageal Glycogenic Acanthosis and Colon Polyposis in a Patient With Cowden Syndrome. ( 28013114 )	Modi RM...Stanich PP	2017
38	Lhermitte-Duclos disease associated to Cowden syndrome: de novo diagnosis and management of these extremely rare syndromes in a patient. ( 28137902 )	Gama I...Almeida L	2017
39	Cowden syndrome-associated germline succinate dehydrogenase complex subunit D (SDHD) variants cause PTEN-mediated down-regulation of autophagy in thyroid cancer cells. ( 28164237 )	Yu W...Eng C	2017
40	A Pediatric Case of Cowden Syndrome with Graves' Disease. ( 28251007 )	Patraquim C...Ferreira AM	2017
41	How to recognize Cowden syndrome: A novel PTEN mutation description. ( 28262255 )	Delannoy P...Valdes-Socin H	2017
42	Intranodal meningothelial proliferation in a patient with Cowden syndrome: a case report. ( 28315423 )	Olofson A...Linos K	2017
43	Anesthetic Management of a Patient with Cowden Syndrome and Review of Anesthetic Concerns. ( 28372663 )	Parin L...Sonali B	2017
44	Cowden syndrome:  Oral presentations of a paraneoplastic syndrome.  Case report and review of the literature. ( 28396890 )	Tariq S...Katz J	2017
45	Lhermitte-Duclos Disease (Dysplastic Gangliocytoma of the Cerebellum) and Cowden Syndrome: Clinical Experience From a Single Institution with Long-Term Follow-Up. ( 28479525 )	Jiang T...Li C	2017
46	Insertion of Alu elements at a PTEN hotspot in Cowden syndrome. ( 28513612 )	Crivelli L...Longy M	2017
47	Acral Plexiform Palisaded Encapsulated Neuromas as the Initial Cutaneous Manifestation of Cowden Syndrome. ( 28543709 )	Harris E...Mir A	2017
48	Characterization of cryptic splicing in germline PTEN intronic variants in Cowden syndrome. ( 28677221 )	Chen HJ...Eng C	2017
49	Optic Nerve Head Drusen as a Rare Manifestation of Cowden Syndrome: Multimodal Imaging. ( 28734331 )	Gama I...Almeida L	2017
50	Hereditary breast cancer associated with Cowden syndrome-related PTEN mutation with Lhermitte-Duclos disease. ( 28741261 )	Kimura F...Ishikawa T	2017

Sources

Genes for Cowden Syndrome

Genes related to Cowden Syndrome (10 elite genes):

(show all 32)

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubmedIds
1	PTEN	Phosphatase And Tensin Homolog	Protein Coding	809.29	Pathogenic ⁶ Causative germline mutation (loss of function) ⁶⁰ DISEASES inferred ¹⁵ GeneCards inferred via : Disorders Publications Functions Variants (show sections)	23519317 25190698
	PTEN::MIR19A ⁴⁸	MIR19A Macro RNA (hsa-miR-19a) targets PTEN
	PTEN::MIR21 ⁴⁸	MIR21 Macro RNA (hsa-miR-21) targets PTEN
2	PIK3CA	Phosphatidylinositol-4,5-Bisphosphate 3-Kinase Catalytic Subunit Alpha	Protein Coding	793.13	Pathogenic ⁶ Causative germline mutation (gain of function) ⁶⁰ DISEASES inferred ¹⁵ GeneCards inferred via : Disorders Publications Variants (show sections)	23519317 25190698
3	SDHB	Succinate Dehydrogenase Complex Iron Sulfur Subunit B	Protein Coding	772.51	Pathogenic ⁶ Causative germline mutation ⁶⁰ DISEASES inferred ¹⁵ GeneCards inferred via : Variants (show sections)	18678321 19368708 23519317 (more) 25190698
4	KLLN	Killin, P53 Regulated DNA Replication Inhibitor	Protein Coding	394.89	Causative germline mutation ⁶⁰ DISEASES inferred ¹⁵ GeneCards inferred via : Disorders Publications Variants (show sections)
5	SEC23B	SEC23 Homolog B, Coat Complex II Component	Protein Coding	390.19	Causative germline mutation ⁶⁰ DISEASES inferred ¹⁵ GeneCards inferred via : Disorders Publications Variants (show sections)
6	AKT1	AKT Serine/Threonine Kinase 1	Protein Coding	384.48	Causative germline mutation (gain of function) ⁶⁰ DISEASES inferred ¹⁵ GeneCards inferred via : Disorders Variants (show sections)
7	SDHD	Succinate Dehydrogenase Complex Subunit D	Protein Coding	383.78	Causative germline mutation ⁶⁰ DISEASES inferred ¹⁵ GeneCards inferred via : Publications Variants (show sections)
8	SDHC	Succinate Dehydrogenase Complex Subunit C	Protein Coding	354.28	Causative germline mutation ⁶⁰ DISEASES inferred ¹⁵
9	MIR19A	MicroRNA 19a	RNA Gene	350	Causal ⁴⁸	18460397
10	MIR21	MicroRNA 21	RNA Gene	350	Causal ⁴⁸	18460397
11	BMPR1A	Bone Morphogenetic Protein Receptor Type 1A	Protein Coding	23.15	DISEASES inferred ¹⁵ GeneCards inferred via : Publications (show sections)
12	BRCA2	BRCA2 DNA Repair Associated	Protein Coding	22.12	DISEASES inferred ¹⁵ GeneCards inferred via : Publications (show sections)
13	SMAD4	SMAD Family Member 4	Protein Coding	21.39	DISEASES inferred ¹⁵ GeneCards inferred via : Publications (show sections)
14	RASAL1	RAS Protein Activator Like 1	Protein Coding	20.51	DISEASES inferred ¹⁵ GeneCards inferred via : Publications (show sections)
15	RINT1	RAD50 Interactor 1	Protein Coding	17.49	GeneCards inferred via : Variants (show sections)
16	CDKN3	Cyclin Dependent Kinase Inhibitor 3	Protein Coding	17.08	GeneCards inferred via : Publications (show sections)
17	TNS1	Tensin 1	Protein Coding	17.06	DISEASES inferred ¹⁵
18	EGFR	Epidermal Growth Factor Receptor	Protein Coding	16.94	GeneCards inferred via : Variants (show sections)
19	USF2	Upstream Transcription Factor 2, C-Fos Interacting	Protein Coding	9.86	DISEASES inferred ¹⁵ GeneCards inferred via : Publications (show sections)
20	TIMM8B	Translocase Of Inner Mitochondrial Membrane 8 Homolog B	Protein Coding	8.81	GeneCards inferred via : Variants (show sections)
21	LOC102723342	Uncharacterized LOC102723342	RNA Gene	7.74	GeneCards inferred via : Variants (show sections)
22	DUSP13	Dual Specificity Phosphatase 13	Protein Coding	7.43	GeneCards inferred via : Publications (show sections)
23	USF1	Upstream Transcription Factor 1	Protein Coding	6.74	GeneCards inferred via : Publications (show sections)
24	SAR1A	Secretion Associated Ras Related GTPase 1A	Protein Coding	6.74	GeneCards inferred via : Publications (show sections)
25	ACP1	Acid Phosphatase 1	Protein Coding	6.74	GeneCards inferred via : Publications (show sections)
26	LYPD1	LY6/PLAUR Domain Containing 1	Protein Coding	6.71	DISEASES inferred ¹⁵
27	STK11	Serine/Threonine Kinase 11	Protein Coding	5.62	DISEASES inferred ¹⁵
28	BRCA1	BRCA1 DNA Repair Associated	Protein Coding	5.41	DISEASES inferred ¹⁵
29	ATP10B	ATPase Phospholipid Transporting 10B (Putative)	Protein Coding	5.3	DISEASES inferred ¹⁵
30	USF3	Upstream Transcription Factor Family Member 3	Protein Coding	5.19	DISEASES inferred ¹⁵
31	JPH1	Junctophilin 1	Protein Coding	5.12	DISEASES inferred ¹⁵
32	STK11IP	Serine/Threonine Kinase 11 Interacting Protein	Protein Coding	5.04	DISEASES inferred ¹⁵

Sources

Variations for Cowden Syndrome

ClinVar genetic disease variations for Cowden Syndrome:

⁶ (show top 50) (show all 284)

#	Gene	Variation	Type	Significance	SNP ID	Assembly	Location
1	PTEN	NM_000314.6(PTEN): c.697C> T (p.Arg233Ter)	single nucleotide variant	Pathogenic	rs121909219	GRCh37	Chromosome 10, 89717672: 89717672
2	PTEN	NM_000314.6(PTEN): c.697C> T (p.Arg233Ter)	single nucleotide variant	Pathogenic	rs121909219	GRCh38	Chromosome 10, 87957915: 87957915
3	SDHB	NM_003000.2(SDHB): c.8C> G (p.Ala3Gly)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs11203289	GRCh37	Chromosome 1, 17380507: 17380507
4	SDHB	NM_003000.2(SDHB): c.8C> G (p.Ala3Gly)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs11203289	GRCh38	Chromosome 1, 17054012: 17054012
5	SDHB	NM_003000.2(SDHB): c.487T> C (p.Ser163Pro)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs33927012	GRCh37	Chromosome 1, 17354297: 17354297
6	SDHB	NM_003000.2(SDHB): c.487T> C (p.Ser163Pro)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs33927012	GRCh38	Chromosome 1, 17027802: 17027802
7	SDHB	NM_003000.2(SDHB): c.32G> A (p.Arg11His)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs111430410	GRCh37	Chromosome 1, 17380483: 17380483
8	SDHB	NM_003000.2(SDHB): c.32G> A (p.Arg11His)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs111430410	GRCh38	Chromosome 1, 17053988: 17053988
9	PIK3CA	NM_006218.3(PIK3CA): c.3139C> T (p.His1047Tyr)	single nucleotide variant	Pathogenic	rs121913281	GRCh37	Chromosome 3, 178952084: 178952084
10	PIK3CA	NM_006218.3(PIK3CA): c.3139C> T (p.His1047Tyr)	single nucleotide variant	Pathogenic	rs121913281	GRCh38	Chromosome 3, 179234296: 179234296
11	SDHB	NM_003000.2(SDHB): c.638T> C (p.Met213Thr)	single nucleotide variant	Uncertain significance	rs202014362	GRCh37	Chromosome 1, 17350472: 17350472
12	SDHB	NM_003000.2(SDHB): c.638T> C (p.Met213Thr)	single nucleotide variant	Uncertain significance	rs202014362	GRCh38	Chromosome 1, 17023977: 17023977
13	PIK3CA	NM_006218.3(PIK3CA): c.3075C> T (p.Thr1025=)	single nucleotide variant	Benign/Likely benign	rs17849079	GRCh37	Chromosome 3, 178952020: 178952020
14	PIK3CA	NM_006218.3(PIK3CA): c.3075C> T (p.Thr1025=)	single nucleotide variant	Benign/Likely benign	rs17849079	GRCh38	Chromosome 3, 179234232: 179234232
15	SDHB	NM_003000.2(SDHB): c.170A> G (p.His57Arg)	single nucleotide variant	Benign/Likely benign	rs35962811	GRCh38	Chromosome 1, 17044791: 17044791
16	SDHB	NM_003000.2(SDHB): c.170A> G (p.His57Arg)	single nucleotide variant	Benign/Likely benign	rs35962811	GRCh37	Chromosome 1, 17371286: 17371286
17	PIK3CA	NM_006218.3(PIK3CA): c.3129G> A (p.Met1043Ile)	single nucleotide variant	Pathogenic/Likely pathogenic	rs121913283	GRCh38	Chromosome 3, 179234286: 179234286
18	PIK3CA	NM_006218.3(PIK3CA): c.3129G> A (p.Met1043Ile)	single nucleotide variant	Pathogenic/Likely pathogenic	rs121913283	GRCh37	Chromosome 3, 178952074: 178952074
19	PTEN	NM_000314.4(PTEN): c.406T> C (p.Cys136Arg)	single nucleotide variant	Pathogenic	rs786201044	GRCh37	Chromosome 10, 89692922: 89692922
20	PTEN	NM_000314.4(PTEN): c.406T> C (p.Cys136Arg)	single nucleotide variant	Pathogenic	rs786201044	GRCh38	Chromosome 10, 87933165: 87933165
21	PIK3CA	NM_006218.3(PIK3CA): c.3129G> T (p.Met1043Ile)	single nucleotide variant	Pathogenic	rs121913283	GRCh37	Chromosome 3, 178952074: 178952074
22	PIK3CA	NM_006218.3(PIK3CA): c.3129G> T (p.Met1043Ile)	single nucleotide variant	Pathogenic	rs121913283	GRCh38	Chromosome 3, 179234286: 179234286
23	PIK3CA	NM_006218.3(PIK3CA): c.363C> T (p.Ile121=)	single nucleotide variant	Benign	rs115746478	GRCh37	Chromosome 3, 178917488: 178917488
24	PIK3CA	NM_006218.3(PIK3CA): c.363C> T (p.Ile121=)	single nucleotide variant	Benign	rs115746478	GRCh38	Chromosome 3, 179199700: 179199700
25	PTEN	NM_000314.6(PTEN): c.118G> T (p.Glu40Ter)	single nucleotide variant	Pathogenic	rs869312778	GRCh38	Chromosome 10, 87894063: 87894063
26	PTEN	NM_000314.6(PTEN): c.118G> T (p.Glu40Ter)	single nucleotide variant	Pathogenic	rs869312778	GRCh37	Chromosome 10, 89653820: 89653820
27	PTEN	NM_000314.6(PTEN): c.344A> G (p.Asp115Gly)	single nucleotide variant	Likely pathogenic	rs869312775	GRCh38	Chromosome 10, 87933103: 87933103
28	PTEN	NM_000314.6(PTEN): c.344A> G (p.Asp115Gly)	single nucleotide variant	Likely pathogenic	rs869312775	GRCh37	Chromosome 10, 89692860: 89692860
29	PTEN	NM_000314.6(PTEN): c.408T> G (p.Cys136Trp)	single nucleotide variant	Likely pathogenic	rs869312776	GRCh38	Chromosome 10, 87933167: 87933167
30	PTEN	NM_000314.6(PTEN): c.408T> G (p.Cys136Trp)	single nucleotide variant	Likely pathogenic	rs869312776	GRCh37	Chromosome 10, 89692924: 89692924
31	PTEN	NM_000314.6(PTEN): c.424delC (p.Arg142Glyfs)	deletion	Pathogenic	rs869312779	GRCh38	Chromosome 10, 87933183: 87933183
32	PTEN	NM_000314.6(PTEN): c.424delC (p.Arg142Glyfs)	deletion	Pathogenic	rs869312779	GRCh37	Chromosome 10, 89692940: 89692940
33	PTEN	NM_000314.6(PTEN): c.486C> G (p.Asp162Glu)	single nucleotide variant	Likely pathogenic	rs869312777	GRCh38	Chromosome 10, 87933245: 87933245
34	PTEN	NM_000314.6(PTEN): c.486C> G (p.Asp162Glu)	single nucleotide variant	Likely pathogenic	rs869312777	GRCh37	Chromosome 10, 89693002: 89693002
35	PTEN	NM_000314.6(PTEN): c.767_768delAG (p.Glu256Valfs)	deletion	Pathogenic	rs869312780	GRCh38	Chromosome 10, 87957985: 87957986
36	PTEN	NM_000314.6(PTEN): c.767_768delAG (p.Glu256Valfs)	deletion	Pathogenic	rs869312780	GRCh37	Chromosome 10, 89717742: 89717743
37	RINT1	NM_021930.5(RINT1): c.330A> G (p.Ala110=)	single nucleotide variant	Likely benign	rs374658950	GRCh38	Chromosome 7, 105542464: 105542464
38	RINT1	NM_021930.5(RINT1): c.330A> G (p.Ala110=)	single nucleotide variant	Likely benign	rs374658950	GRCh37	Chromosome 7, 105182911: 105182911
39	RINT1	NM_021930.5(RINT1): c.1447A> G (p.Met483Val)	single nucleotide variant	Uncertain significance	rs869312982	GRCh38	Chromosome 7, 105551683: 105551683
40	RINT1	NM_021930.5(RINT1): c.1447A> G (p.Met483Val)	single nucleotide variant	Uncertain significance	rs869312982	GRCh37	Chromosome 7, 105192130: 105192130
41	RINT1	NM_021930.5(RINT1): c.1671_1671+2delTGT	deletion	Uncertain significance	rs869312981	GRCh37	Chromosome 7, 105195674: 105195676
42	RINT1	NM_021930.5(RINT1): c.1671_1671+2delTGT	deletion	Uncertain significance	rs869312981	GRCh38	Chromosome 7, 105555227: 105555229
43	SDHB	NM_003000.2(SDHB): c.307A> G (p.Met103Val)	single nucleotide variant	Uncertain significance	rs140178341	GRCh37	Chromosome 1, 17355211: 17355211
44	SDHB	NM_003000.2(SDHB): c.307A> G (p.Met103Val)	single nucleotide variant	Uncertain significance	rs140178341	GRCh38	Chromosome 1, 17028716: 17028716
45	SDHB	NM_003000.2(SDHB): c.200+7A> G	single nucleotide variant	Conflicting interpretations of pathogenicity	rs371329778	GRCh37	Chromosome 1, 17371249: 17371249
46	SDHB	NM_003000.2(SDHB): c.200+7A> G	single nucleotide variant	Conflicting interpretations of pathogenicity	rs371329778	GRCh38	Chromosome 1, 17044754: 17044754
47	PIK3CA	NM_006218.3(PIK3CA): c.*29T> C	single nucleotide variant	Benign	rs141178472	GRCh37	Chromosome 3, 178952181: 178952181
48	PIK3CA	NM_006218.3(PIK3CA): c.*29T> C	single nucleotide variant	Benign	rs141178472	GRCh38	Chromosome 3, 179234393: 179234393
49	PIK3CA	NM_006218.3(PIK3CA): c.1747-9C> T	single nucleotide variant	Likely benign	rs201779641	GRCh38	Chromosome 3, 179219562: 179219562
50	PIK3CA	NM_006218.3(PIK3CA): c.1747-9C> T	single nucleotide variant	Likely benign	rs201779641	GRCh37	Chromosome 3, 178937350: 178937350

Sources

Expression for Cowden Syndrome

Search GEO for disease gene expression data for Cowden Syndrome.

Sources

Pathways for Cowden Syndrome

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

(show all 36)

#	Super pathways	Score	Top Affiliating Genes
1	Focal Adhesion ¹ ³⁸ Show member pathways HGF Pathway ⁶⁵ Integrin-mediated Cell Adhesion ¹	12.83	AKT1 EGFR PIK3CA PTEN TNS1
2	Endometrial cancer ³⁸ Show member pathways Acute myeloid leukemia ³⁸ Binding of TCF/LEF-CTNNB1 to target gene promoters ⁶⁷ Chronic myeloid leukemia ³⁸ Colorectal cancer ³⁸ Pancreatic cancer ³⁸ Prostate cancer ³⁸ Signal transduction PTEN pathway ²³ Thyroid cancer ³⁸	12.76	AKT1 BRCA2 EGFR PIK3CA PTEN SMAD4
3	Pathways in cancer ³⁸	12.71	AKT1 BRCA2 EGFR PIK3CA PTEN SMAD4
4	Glioma ³⁸ Show member pathways Endocrine resistance ³⁸ Melanoma ³⁸ Non-small cell lung cancer ³⁸ Signaling Pathways in Glioblastoma ¹	12.61	AKT1 BRCA2 EGFR PIK3CA PTEN
5	Gastric cancer ³⁸ Show member pathways Breast cancer ³⁸ Hepatocellular carcinoma ³⁸	12.51	AKT1 BRCA2 EGFR PIK3CA PTEN SMAD4
6	mTOR signaling pathway (KEGG) ³⁸ Show member pathways mTOR Signaling Pathway ⁶⁶	12.42	AKT1 EGFR PIK3CA PTEN
7	MicroRNAs in cancer ³⁸	12.4	EGFR MIR19A MIR21 PIK3CA PTEN
8	Apoptosis Pathway ⁷³ Show member pathways Akt Pathway ⁷³ NF-kappaB Pathway ⁷³	12.36	AKT1 BMPR1A EGFR PIK3CA
9	Proteoglycans in cancer ³⁸	12.21	AKT1 EGFR MIR21 PIK3CA
10	MAPK Signaling: Mitogen Stimulation Pathway ⁶⁶ Show member pathways Akt Signaling Pathway ⁶⁶	12.12	AKT1 EGFR PIK3CA PTEN
11	AKT Signaling Pathway ⁶⁸	12.05	AKT1 EGFR PIK3CA PTEN
12	Development EGFR signaling via small GTPases ²³ Show member pathways Development EGFR signaling via PIP3 ²³ Development PDGF signaling via MAPK cascades ²³ PDGF Pathway ¹	12.05	AKT1 EGFR PIK3CA PTEN
13	Transcription Androgen Receptor nuclear signaling ²³ Show member pathways Translation Non-genomic (rapid) action of Androgen Receptor ²³	12.02	AKT1 EGFR PIK3CA PTEN
14	Signaling pathways regulating pluripotency of stem cells ³⁸	11.99	AKT1 BMPR1A PIK3CA SMAD4
15	Citrate cycle (TCA cycle) ³⁸ Show member pathways pyruvate decarboxylation to acetyl CoA ¹ superpathway of conversion of glucose to acetyl CoA and entry into the TCA cycle ¹ TCA cycle ¹ TCA Cycle and Deficiency of Pyruvate Dehydrogenase complex (PDHc) ¹	11.85	SDHB SDHC SDHD
16	ErbB1 downstream signaling ¹	11.85	AKT1 EGFR PIK3CA
17	HIF-1 signaling pathway ³⁸	11.83	AKT1 EGFR PIK3CA
18	AGE-RAGE signaling pathway in diabetic complications ³⁸	11.83	AKT1 PIK3CA SMAD4
19	DNA Damage Response (only ATM dependent) ¹	11.82	AKT1 PIK3CA PTEN SMAD4
20	Small cell lung cancer ³⁸	11.79	AKT1 PIK3CA PTEN
21	PI3K / Akt Signaling ⁴	11.78	AKT1 PIK3CA PTEN
22	Sterol Regulatory Element-Binding Proteins (SREBP) signalling ¹	11.66	AKT1 PIK3CA SEC23B
23	Pathways Affected in Adenoid Cystic Carcinoma ¹	11.61	AKT1 PIK3CA PTEN
24	Androgen receptor signaling pathway ¹	11.58	AKT1 EGFR PTEN SMAD4
25	Copper homeostasis ¹	11.5	AKT1 PIK3CA PTEN
26	PDGFR-beta signaling pathway ¹	11.49	AKT1 PIK3CA PTEN
27	IL-2 Gene Expression in Activated and Quiescent T-Cells ⁶⁵ Show member pathways TOB in T-Cell Signaling ⁶⁵	11.49	AKT1 EGFR PIK3CA SMAD4
28	FoxO signaling pathway ³⁸ Show member pathways PLK2 and PLK4 events ¹ Polo-like kinase signaling events in the cell cycle ¹	11.49	AKT1 EGFR PIK3CA PTEN SMAD4
29	Signaling events mediated by PTP1B ¹	11.45	AKT1 EGFR PIK3CA
30	Integrated Breast Cancer Pathway ¹	11.29	AKT1 BMPR1A BRCA2 EGFR PTEN SMAD4
31	Central carbon metabolism in cancer ³⁸	11.27	AKT1 EGFR PIK3CA PTEN
32	a6b1 and a6b4 Integrin signaling ¹	11.14	AKT1 EGFR PIK3CA
33	Telomere Extension by Telomerase ⁶⁵ Show member pathways XAV939 inhibits tankyrase, stabilizing AXIN ⁶⁷	11.13	AKT1 PIK3CA SMAD4
34	Extracellular vesicle-mediated signaling in recipient cells ¹	11.09	AKT1 EGFR SMAD4
35	PI3K-AKT-mTOR signaling pathway and therapeutic opportunities ¹	11.06	AKT1 PIK3CA PTEN
36	E-cadherin signaling in keratinocytes ¹	10.71	AKT1 EGFR PIK3CA

Sources

GO Terms for Cowden Syndrome

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

#	Name	GO ID	Score	Top Affiliating Genes
1	respiratory chain complex II	GO:0045273	8.96	SDHB SDHC
2	mitochondrial respiratory chain complex II, succinate dehydrogenase complex (ubiquinone)	GO:0005749	8.8	SDHB SDHC SDHD

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

(show all 19)

#	Name	GO ID	Score	Top Affiliating Genes
1	negative regulation of apoptotic process	GO:0043066	9.98	AKT1 EGFR MIR19A MIR21 PTEN
2	intracellular signal transduction	GO:0035556	9.88	AKT1 EGFR RASAL1 SMAD4 TNS1
3	positive regulation of transcription, DNA-templated	GO:0045893	9.85	AKT1 BMPR1A BRCA2 EGFR SMAD4 USF2
4	cell proliferation	GO:0008283	9.83	AKT1 BRCA2 EGFR PTEN SMAD4
5	transforming growth factor beta receptor signaling pathway	GO:0007179	9.75	BMPR1A MIR21 SMAD4
6	BMP signaling pathway	GO:0030509	9.72	BMPR1A MIR21 SMAD4
7	positive regulation of peptidyl-serine phosphorylation	GO:0033138	9.71	AKT1 EGFR PIK3CA
8	negative regulation of ERK1 and ERK2 cascade	GO:0070373	9.67	MIR21 PTEN SMAD4
9	epidermal growth factor receptor signaling pathway	GO:0007173	9.58	AKT1 EGFR PIK3CA
10	negative regulation of macroautophagy	GO:0016242	9.57	AKT1 PIK3CA
11	positive regulation of SMAD protein signal transduction	GO:0060391	9.56	BMPR1A SMAD4
12	anoikis	GO:0043276	9.52	AKT1 PIK3CA
13	negative regulation of cell size	GO:0045792	9.51	AKT1 PTEN
14	mitochondrial electron transport, succinate to ubiquinone	GO:0006121	9.46	SDHC SDHD
15	protein kinase B signaling	GO:0043491	9.43	AKT1 PIK3CA PTEN
16	cellular response to decreased oxygen levels	GO:0036294	9.32	AKT1 PTEN
17	response to UV-A	GO:0070141	9.16	AKT1 EGFR
18	tricarboxylic acid cycle	GO:0006099	9.13	SDHB SDHC SDHD
19	regulation of signal transduction involved in mitotic G2 DNA damage checkpoint	GO:1902504	8.62	MIR21 RINT1

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

#	Name	GO ID	Score	Top Affiliating Genes
1	electron transfer activity	GO:0009055	9.43	SDHB SDHC SDHD
2	nitric-oxide synthase regulator activity	GO:0030235	9.16	AKT1 EGFR
3	ubiquinone binding	GO:0048039	8.96	SDHB SDHD
4	succinate dehydrogenase (ubiquinone) activity	GO:0008177	8.8	SDHB SDHC SDHD

Sources

Sources for Cowden Syndrome

¹ BioSystems

² BitterDB

³ CDC

⁴ Cell Signaling Technology

⁵ ClinicalTrials

⁶ ClinVar

⁷ CNVD

⁸ Cochrane Library

⁹ Cosmic

¹⁰ dbSNP

¹¹ DGIdb

¹² Disease Ontology

¹³ diseasecard

¹⁴ DiseaseEnhancer

¹⁵ DISEASES

¹⁶ DrugBank

¹⁷ EFO

¹⁸ ExPASy

¹⁹ FDA Approved Drugs

²⁰ FMA

²¹ GeneAnalytics

²² GeneCards

²³ GeneGo (Thomson Reuters)

²⁴ GeneHancer via GeneCards

²⁵ GeneReviews

²⁶ Genetics Home Reference

²⁷ GenomeRNAi

²⁸ GEO DataSets

²⁹ GO

³⁰ GTR

³¹ HGMD

³² HMDB

³³ HPO

³⁴ ICD10

³⁵ ICD10 via Orphanet

³⁶ ICD9CM

³⁷ IUPHAR

³⁸ KEGG

³⁹ LifeMap

⁴⁰ LncRNADisease

⁴¹ LOVD

⁴² MalaCards

⁴³ MedGen

⁴⁴ MedlinePlus

⁴⁵ MeSH

⁴⁶ MESH via Orphanet

⁴⁷ MGI

⁴⁸ miR2Disease

⁴⁹ NCBI Bookshelf

⁵⁰ NCI

⁵¹ NCIt

⁵² NDF-RT

⁵³ NIH Clinical Center

⁵⁴ NIH Rare Diseases

⁵⁵ NINDS

⁵⁶ Novoseek

⁵⁷ Novus Biologicals

⁵⁸ OMIM

⁵⁹ OMIM via Orphanet

⁶⁰ Orphanet

⁶¹ PathCards

⁶² PharmGKB

⁶³ PubMed

⁶⁴ PubMed Health

⁶⁵ QIAGEN

⁶⁶ R&D Systems

⁶⁷ Reactome

⁶⁸ Sino Biological

⁶⁹ SNOMED-CT

⁷⁰ SNOMED-CT via HPO

⁷¹ SNOMED-CT via Orphanet

⁷² TGDB

⁷³ Tocris

⁷⁴ UMLS

⁷⁵ UMLS via Orphanet

⁷⁶ UniProtKB/Swiss-Prot

⁷⁷ Wikipedia