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

CD MCID: CWD010 MIFTS: 66	Cowden Syndrome (CD) Categories: Cancer diseases, Cardiovascular diseases, Eye diseases, Fetal diseases, Gastrointestinal diseases, Genetic diseases, Neuronal diseases, Rare diseases, Reproductive diseases, Skin diseases
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Aliases & Classifications for Cowden Syndrome

MalaCards integrated aliases for Cowden Syndrome:

Name: Cowden Syndrome ¹² ⁷⁴ ⁵² ²⁵ ⁵⁸ ³⁶ ²⁹ ⁶ ¹⁵ ³⁹

Multiple Hamartoma Syndrome ¹² ⁵² ²⁵ ⁵⁸

Cowden Disease ¹² ⁵² ²⁵ ⁵⁸

Lhermitte-Duclos Disease ¹² ⁷⁴ ⁵²

Cowden's Disease ⁷⁴ ⁵² ²⁵

Mham ⁵² ²⁵

Cs ⁵² ²⁵

Cd ⁵² ²⁵

Dysplastic Gangliocytoma of the Cerebellum ⁵²

Dysplastic Gangliocytoma of Cerebellum ¹²

Cowden's Syndrome ²⁵

Characteristics:

Orphanet epidemiological data:

⁵⁸

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 Neuronal diseases Eye diseases Cardiovascular diseases Reproductive diseases

See all MalaCards categories (disease lists)

ICD10: ³³

Congenital malformations, deformations and chromosomal abnormalities

Other congenital malformations

Phakomatoses, not elsewhere classified

Other phakomatoses, not elsewhere classified

Orphanet: ⁵⁸

Rare gastroenterological diseases

Rare skin diseases

Developmental anomalies during embryogenesis

External Ids:

Disease Ontology ¹² DOID:6457

KEGG ³⁶ H01222

MeSH ⁴³ D006223

NCIt ⁴⁹ C3076

SNOMED-CT ⁶⁷ 58037000

MESH via Orphanet ⁴⁴ D006223

ICD10 via Orphanet ³³ Q85.8

UMLS via Orphanet ⁷² C0018553

Orphanet ⁵⁸ ORPHA201

SNOMED-CT via HPO ⁶⁸ 103276001 111266001 112629002 more

UMLS ⁷¹ C0018553 C0391826

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Summaries for Cowden Syndrome

Genetics Home Reference : ²⁵ Cowden syndrome is a disorder characterized by multiple noncancerous, tumor-like growths called hamartomas and an increased risk of developing certain cancers. Almost everyone with Cowden syndrome develops hamartomas. These growths are most commonly found on the skin and mucous membranes (such as the lining of the mouth and nose), but they can also occur in the intestine and other parts of the body. The growth of hamartomas on the skin and mucous membranes typically becomes apparent by a person's late twenties. Cowden syndrome is associated with an increased risk of developing several types of cancer, particularly cancers of the breast, a gland in the lower neck called the thyroid, and the lining of the uterus (the endometrium). Other cancers that have been identified in people with Cowden syndrome include colorectal cancer, kidney cancer, and a form of skin cancer called melanoma. Compared with the general population, people with Cowden syndrome develop these cancers at younger ages, often beginning in their thirties or forties. Other diseases of the breast, thyroid, and endometrium are also common in Cowden syndrome. Additional signs and symptoms can include an enlarged head (macrocephaly) and a rare, noncancerous brain tumor called Lhermitte-Duclos disease. A small percentage of affected individuals have delayed development or intellectual disability. The features of Cowden syndrome overlap with those of another disorder called Bannayan-Riley-Ruvalcaba syndrome. People with Bannayan-Riley-Ruvalcaba syndrome also develop hamartomas and other noncancerous tumors. Both conditions can be caused by mutations in the PTEN gene. Some people with Cowden syndrome have had relatives diagnosed with Bannayan-Riley-Ruvalcaba syndrome, and other individuals have had the characteristic features of both conditions. Based on these similarities, researchers have proposed that Cowden syndrome and Bannayan-Riley-Ruvalcaba syndrome represent a spectrum of overlapping features known as PTEN hamartoma tumor syndrome instead of two distinct conditions. PTEN PTEN Some people have some of the characteristic features of Cowden syndrome, particularly the cancers associated with this condition, but do not meet the strict criteria for a diagnosis of Cowden syndrome. These individuals are often described as having Cowden-like syndrome.

MalaCards based summary : Cowden Syndrome, also known as multiple hamartoma syndrome, is related to cowden syndrome 1 and proteus syndrome, and has symptoms including seizures and action tremor. An important gene associated with Cowden Syndrome is PTEN (Phosphatase And Tensin Homolog), and among its related pathways/superpathways are Non-alcoholic fatty liver disease (NAFLD) and Endometrial cancer. The drugs Lactitol and Fluorodeoxyglucose F18 have been mentioned in the context of this disorder. Affiliated tissues include breast, thyroid and skin, and related phenotypes are generalized hyperkeratosis and palmoplantar keratoderma

Disease Ontology : ¹² A syndrome characterized by multiple noncancerous, tumor-like growths (hamartomas) and an increased risk of certain forms of cancer, especially breast, thyroid and endometrium.

NIH Rare Diseases : ⁵² 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.

KEGG : ³⁶ Cowden syndrome (CS) is a autosomal dominant inherited cancer syndrome characterized by benign and malignant breast, thyroid, and endometrial neoplasias in addition to cutaneous findings and macrocephaly. Germ line PTEN mutations have been found in 85% of those with CS. A large heterogeneous group of individuals with Cowden-like syndrome, who have various combinations of Cowden syndrome features but who do not meet Cowden syndrome diagnostic criteria, have PTEN mutations less than 10% of the time. In the absence of germline PTEN mutations, approximately 10% of individuals with Cowden syndrome or Cowden-like syndrome harbor germline succinate dehydrogenase variants SDHB and SDHD.

Wikipedia : ⁷⁴ Cowden syndrome (also known as Cowden's disease and multiple hamartoma syndrome) is an autosomal... more...

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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 1116)

#	Related Disease	Score	Top Affiliating Genes
1	cowden syndrome 1	35.2	TNS1 SMAD4 SDHB PTEN PIK3CA LYPD1
2	proteus syndrome	33.5	TNS1 PTEN PIK3CA LYPD1 AKT1
3	thyroid carcinoma	31.8	PTEN PIK3CA AKT1
4	endometrial cancer	31.7	SMAD4 PTEN PIK3CA EGFR CDKN3 BRCA2
5	kidney cancer	31.4	TNS1 SDHB PTEN PIK3CA MIR21 EGFR
6	leukemia, chronic lymphocytic	31.4	PTEN MIR21 MIR19A EGFR BRCA2 AKT1
7	neurofibromatosis, type iv, of riccardi	31.4	SDHD SDHC SDHB PTEN AKT1
8	bilateral breast cancer	31.3	PTEN PIK3CA BRCA2
9	meningioma, familial	31.3	PTEN KLLN EGFR AKT1
10	juvenile polyposis syndrome	31.2	SMAD4 PTEN LYPD1 BMPR1A
11	adenocarcinoma	31.2	SMAD4 PTEN PIK3CA EGFR BRCA2 AKT1
12	thyroid gland cancer	31.2	SDHB PTEN PIK3CA MIR21 EGFR CDKN3
13	lipomatosis	31.1	SDHB PTEN PIK3CA
14	peutz-jeghers syndrome	31.1	SMAD4 PTEN EGFR BRCA2
15	sarcoma	31.1	SDHD SDHC SDHB PIK3CA AKT1
16	breast ductal carcinoma	31.1	SMAD4 PTEN EGFR BRCA2
17	lynch syndrome	31.1	SMAD4 PTEN PIK3CA EGFR BRCA2 BMPR1A
18	leukemia, acute myeloid	31.0	PTEN MIR21 EGFR CDKN3 BRCA2 AKT1
19	endometrial adenocarcinoma	31.0	PTEN EGFR AKT1
20	glioblastoma multiforme	31.0	PTEN PIK3CA MIR21 EGFR CDKN3 BRCA2
21	squamous cell carcinoma	31.0	SMAD4 PTEN PIK3CA EGFR AKT1
22	renal cell carcinoma, nonpapillary	31.0	SDHC SDHB PTEN PIK3CA MIR21 EGFR
23	skin papilloma	30.9	PTEN EGFR AKT1
24	in situ carcinoma	30.9	PTEN EGFR BRCA2 AKT1
25	ductal carcinoma in situ	30.9	PTEN PIK3CA EGFR BRCA2 AKT1
26	oropharynx cancer	30.9	PTEN PIK3CA EGFR AKT1
27	carcinosarcoma	30.9	PTEN PIK3CA EGFR
28	hereditary paraganglioma-pheochromocytoma syndromes	30.9	SDHD SDHC SDHB
29	gastrointestinal stromal tumor	30.9	SDHD SDHC SDHB PTEN EGFR AKT1
30	uterine carcinosarcoma	30.9	PTEN PIK3CA EGFR AKT1
31	small cell cancer of the lung	30.8	PTEN PIK3CA MIR21 EGFR
32	glioma susceptibility 1	30.8	PTEN PIK3CA MIR21 EGFR
33	gastric adenocarcinoma	30.8	SMAD4 PTEN PIK3CA EGFR BMPR1A AKT1
34	lung adenoma	30.8	PTEN EGFR AKT1
35	glioma	30.8	PTEN PIK3CA MIR21 MIR19A EGFR BRCA2
36	sporadic breast cancer	30.8	PTEN EGFR BRCA2
37	suppression of tumorigenicity 12	30.8	SMAD4 PTEN PIK3CA EGFR BRCA2 AKT1
38	melanoma, uveal	30.7	SMAD4 PTEN EGFR AKT1
39	nasopharyngeal carcinoma	30.7	SMAD4 PTEN PIK3CA MIR21 EGFR AKT1
40	myeloma, multiple	30.7	PTEN MIR21 MIR19A EGFR AKT1
41	lymphoma, non-hodgkin, familial	30.6	PTEN PIK3CA MIR21 CDKN3 AKT1
42	cervical cancer	30.6	SMAD4 PTEN PIK3CA MIR21 EGFR AKT1
43	esophageal cancer	30.6	SMAD4 PTEN PIK3CA MIR21 EGFR CDKN3
44	hereditary breast ovarian cancer syndrome	30.6	PTEN BRCA2 BMPR1A
45	brain cancer	30.5	PTEN PIK3CA EGFR BRCA2 AKT1
46	obsolete: squamous cell carcinoma of head and neck	30.5	SMAD4 PTEN PIK3CA EGFR
47	ovarian disease	30.5	PTEN PIK3CA MIR21 EGFR BRCA2 AKT1
48	colon adenocarcinoma	30.5	SMAD4 PTEN PIK3CA MIR21 EGFR
49	von hippel-lindau syndrome	30.5	SDHD SDHC SDHB
50	pancreatic adenocarcinoma	30.5	SMAD4 PTEN PIK3CA MIR21 EGFR BRCA2

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

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Symptoms & Phenotypes for Cowden Syndrome

Human phenotypes related to Cowden Syndrome:

⁵⁸ ³¹ (show top 50) (show all 57)

#	Description	HPO Frequency	Orphanet Frequency	HPO Source Accession
1	generalized hyperkeratosis ⁵⁸ ³¹	hallmark (90%)	Very frequent (99-80%)	HP:0005595
2	palmoplantar keratoderma ⁵⁸ ³¹	hallmark (90%)	Very frequent (99-80%)	HP:0000982
3	macule ⁵⁸ ³¹	hallmark (90%)	Very frequent (99-80%)	HP:0012733
4	papule ⁵⁸ ³¹	hallmark (90%)	Very frequent (99-80%)	HP:0200034
5	goiter ⁵⁸ ³¹	hallmark (90%)	Very frequent (99-80%)	HP:0000853
6	breast carcinoma ⁵⁸ ³¹	hallmark (90%)	Very frequent (99-80%)	HP:0003002
7	colorectal polyposis ⁵⁸ ³¹	hallmark (90%)	Very frequent (99-80%)	HP:0200063
8	papilloma ⁵⁸ ³¹	hallmark (90%)	Very frequent (99-80%)	HP:0012740
9	conjunctival hamartoma ⁵⁸ ³¹	hallmark (90%)	Very frequent (99-80%)	HP:0100780
10	macrocephaly ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0000256
11	intellectual disability ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0001249
12	ataxia ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0001251
13	macroglossia ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0000158
14	global developmental delay ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0001263
15	cognitive impairment ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0100543
16	subcutaneous nodule ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0001482
17	cavernous hemangioma ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0001048
18	mucosal telangiectasiae ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0100579
19	melanocytic nevus ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0000995
20	meningioma ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0002858
21	abnormality of the penis ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0000036
22	furrowed tongue ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0000221
23	hamartomatous polyposis ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0004390
24	adenoma sebaceum ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0009720
25	lipoma ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0012032
26	pectus excavatum ⁵⁸ ³¹	occasional (7.5%)	Occasional (29-5%)	HP:0000767
27	seizures ⁵⁸ ³¹	occasional (7.5%)	Occasional (29-5%)	HP:0001250
28	failure to thrive ⁵⁸ ³¹	occasional (7.5%)	Occasional (29-5%)	HP:0001508
29	scoliosis ⁵⁸ ³¹	occasional (7.5%)	Occasional (29-5%)	HP:0002650
30	kyphosis ⁵⁸ ³¹	occasional (7.5%)	Occasional (29-5%)	HP:0002808
31	high palate ⁵⁸ ³¹	occasional (7.5%)	Occasional (29-5%)	HP:0000218
32	hearing impairment ⁵⁸ ³¹	occasional (7.5%)	Occasional (29-5%)	HP:0000365
33	cataract ⁵⁸ ³¹	occasional (7.5%)	Occasional (29-5%)	HP:0000518
34	increased intracranial pressure ⁵⁸ ³¹	occasional (7.5%)	Occasional (29-5%)	HP:0002516
35	brachydactyly ⁵⁸ ³¹	occasional (7.5%)	Occasional (29-5%)	HP:0001156
36	short stature ⁵⁸ ³¹	occasional (7.5%)	Occasional (29-5%)	HP:0004322
37	hypopigmented skin patches ⁵⁸ ³¹	occasional (7.5%)	Occasional (29-5%)	HP:0001053
38	autism ⁵⁸ ³¹	occasional (7.5%)	Occasional (29-5%)	HP:0000717
39	myopia ⁵⁸ ³¹	occasional (7.5%)	Occasional (29-5%)	HP:0000545
40	melanoma ⁵⁸ ³¹	occasional (7.5%)	Occasional (29-5%)	HP:0002861
41	renal cell carcinoma ⁵⁸ ³¹	occasional (7.5%)	Occasional (29-5%)	HP:0005584
42	cellular immunodeficiency ⁵⁸ ³¹	occasional (7.5%)	Occasional (29-5%)	HP:0005374
43	multiple cafe-au-lait spots ⁵⁸ ³¹	occasional (7.5%)	Occasional (29-5%)	HP:0007565
44	gynecomastia ⁵⁸ ³¹	occasional (7.5%)	Occasional (29-5%)	HP:0000771
45	enlarged polycystic ovaries ⁵⁸ ³¹	occasional (7.5%)	Occasional (29-5%)	HP:0008675
46	abnormal cerebellum morphology ⁵⁸ ³¹	occasional (7.5%)	Occasional (29-5%)	HP:0001317
47	follicular thyroid carcinoma ⁵⁸ ³¹	occasional (7.5%)	Occasional (29-5%)	HP:0006731
48	bone cyst ⁵⁸ ³¹	occasional (7.5%)	Occasional (29-5%)	HP:0012062
49	endometrial carcinoma ⁵⁸ ³¹	occasional (7.5%)	Occasional (29-5%)	HP:0012114
50	neoplasm ⁵⁸		Frequent (79-30%)

UMLS symptoms related to Cowden Syndrome:

seizures, action tremor

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

²⁶ (show all 37)

#	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	9.9	SMAD4
9	Increased shRNA abundance (Z-score > 2)	GR00366-A-151	9.9	PTEN
10	Increased shRNA abundance (Z-score > 2)	GR00366-A-152	9.9	PTEN
11	Increased shRNA abundance (Z-score > 2)	GR00366-A-157	9.9	PIK3CA
12	Increased shRNA abundance (Z-score > 2)	GR00366-A-16	9.9	AKT1 PIK3CA PTEN
13	Increased shRNA abundance (Z-score > 2)	GR00366-A-166	9.9	PIK3CA
14	Increased shRNA abundance (Z-score > 2)	GR00366-A-168	9.9	PTEN
15	Increased shRNA abundance (Z-score > 2)	GR00366-A-177	9.9	AKT1 PIK3CA
16	Increased shRNA abundance (Z-score > 2)	GR00366-A-182	9.9	USF2
17	Increased shRNA abundance (Z-score > 2)	GR00366-A-190	9.9	PIK3CA
18	Increased shRNA abundance (Z-score > 2)	GR00366-A-21	9.9	SMAD4
19	Increased shRNA abundance (Z-score > 2)	GR00366-A-214	9.9	PTEN
20	Increased shRNA abundance (Z-score > 2)	GR00366-A-25	9.9	SMAD4
21	Increased shRNA abundance (Z-score > 2)	GR00366-A-35	9.9	USF2
22	Increased shRNA abundance (Z-score > 2)	GR00366-A-42	9.9	AKT1 PIK3CA PTEN SMAD4 USF2
23	Increased shRNA abundance (Z-score > 2)	GR00366-A-43	9.9	SMAD4
24	Increased shRNA abundance (Z-score > 2)	GR00366-A-46	9.9	SMAD4
25	Increased shRNA abundance (Z-score > 2)	GR00366-A-49	9.9	PIK3CA
26	Increased shRNA abundance (Z-score > 2)	GR00366-A-50	9.9	AKT1
27	Increased shRNA abundance (Z-score > 2)	GR00366-A-54	9.9	SMAD4
28	Increased shRNA abundance (Z-score > 2)	GR00366-A-60	9.9	AKT1 PIK3CA
29	Increased shRNA abundance (Z-score > 2)	GR00366-A-63	9.9	PTEN USF2
30	Increased shRNA abundance (Z-score > 2)	GR00366-A-70	9.9	AKT1
31	Increased shRNA abundance (Z-score > 2)	GR00366-A-73	9.9	SMAD4
32	Increased shRNA abundance (Z-score > 2)	GR00366-A-74	9.9	SMAD4
33	Increased shRNA abundance (Z-score > 2)	GR00366-A-81	9.9	SMAD4
34	Increased shRNA abundance (Z-score > 2)	GR00366-A-85	9.9	AKT1 USF2
35	Increased shRNA abundance (Z-score > 2)	GR00366-A-93	9.9	PTEN
36	Decreased sensitivity to paclitaxel	GR00112-A-0	9.26	PTEN SMAD4
37	Increased mitotic index	GR00110-A-0	9.26	BMPR1A SDHD SMAD4 TNS1

MGI Mouse Phenotypes related to Cowden Syndrome:

⁴⁵

#	Description	MGI Source Accession	Score	Top Affiliating Genes
1	behavior/neurological	MP:0005386	10.18	AKT1 BMPR1A BRCA2 CDKN3 LYPD1 PIK3CA
2	mortality/aging	MP:0010768	10.07	AKT1 BMPR1A BRCA2 EGFR PIK3CA PTEN
3	endocrine/exocrine gland	MP:0005379	10.02	AKT1 BMPR1A BRCA2 EGFR PIK3CA PTEN
4	neoplasm	MP:0002006	9.81	AKT1 BMPR1A BRCA2 EGFR PIK3CA PTEN
5	nervous system	MP:0003631	9.7	AKT1 BMPR1A BRCA2 EGFR LYPD1 PIK3CA
6	normal	MP:0002873	9.36	AKT1 BMPR1A BRCA2 EGFR PTEN SDHB

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Drugs & Therapeutics for Cowden Syndrome

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

Name

Status

Phase

Clinical Trials

Cas Number

PubChem Id

Lactitol

Investigational

Phase 2

585-86-4, 585-88-6

493591

Synonyms:

(2S,3R,4R,5R)-4-{[(2R,3R,4S,5S,6R)-3,4,5-trihydroxy-6-(hydroxymethyl)tetrahydro-2H-pyran-2-yl]oxy}hexane-1,2,3,5,6-pentol

4-O-a-D-Glucopyranosyl-D-glucitol

4-O-alpha-delta-Glucopyranosyl-delta-glucitol

4-O-alpha-D-Glucopyranosyl-D-glucitol

4-O-α-D-glucopyranosyl-D-glucitol

a-D-GLC-(1->4)-D-GLC-ol

a-D-GLCP-(1->4)-D-GLC-ol

a-D-Glucosyl-(1->4)-D-glucitol

alpha-D-GLC-(1->4)-D-GLC-ol

alpha-D-GLCP-(1->4)-D-GLC-ol

alpha-D-Glucosyl-(1->4)-D-glucitol

Amalti syrup

Amalty MR 100

D-4-O-alpha-D-Glucopyranosylglucitol

delta-4-O-alpha-delta-Glucopyranosylglucitol

delta-Maltitol

D-Maltitol

lactitol

Malbit

Malti MR

Maltisorb

Maltit

α-D-GLC-(1->4)-D-GLC-ol

α-D-GLCP-(1->4)-D-GLC-ol

α-D-glucosyl-(1->4)-D-glucitol

Fluorodeoxyglucose F18

Phase 2

Radiopharmaceuticals

Phase 2

Cola

Phase 2

Interventional clinical trials:

#	Name	Status	NCT ID	Phase	Drugs
1	A Pilot Study of Sirolimus (Rapamycin, Rapamune[Registered Trademark]) in Subjects With Cowden Syndrome or Other Syndromes Characterized by Germline Mutations in PTEN	Completed	NCT00971789	Phase 2	sirolimus
2	A Phase I/II, Multi-center, Open-label Study of BGT226, Administered Orally in Adult Patients With Advanced Solid Malignancies Including Patients With Advanced Breast Cancer	Completed	NCT00600275	Phase 1, Phase 2	BGT226
3	Sirolimus for Cowden Syndrome With Colon Polyposis	Recruiting	NCT04094675	Phase 2	Sirolimus
4	Phase 2 Study of Everolimus Therapy in Patients With Birt-Hogg-Dube Syndrome (BHD)-Associated Kidney Cancer or Sporadic Chromophobe Renal Cancer	Terminated	NCT02504892	Phase 2	Everolimus
5	Open Label Phase II Study of Everolimus (RAD001) in Patients With Segmental Overgrowth Syndrome	Withdrawn	NCT02569125	Phase 2	Everolimus
6	Eculizumab in HELLP Syndrome	Not yet recruiting	NCT04103489	Phase 1	Eculizumab
7	Clinical, Genetic, Behavioral, Laboratory and Epidemiologic Characterization of Individuals and Families at High Risk of Breast/Ovarian Cancer	Completed	NCT00040222
8	French Digestive Polyposis Cohorte	Recruiting	NCT01987518

Search NIH Clinical Center for Cowden Syndrome

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Genetic Tests for Cowden Syndrome

Genetic tests related to Cowden Syndrome:

#	Genetic test	Affiliating Genes
1	Cowden Syndrome ²⁹

Sources

Anatomical Context for Cowden Syndrome

MalaCards organs/tissues related to Cowden Syndrome:

⁴⁰

Breast, Thyroid, Skin, Kidney, Cerebellum, Uterus, Brain

Sources

Publications for Cowden Syndrome

Articles related to Cowden Syndrome:

(show top 50) (show all 675)

#	Title	Authors	PMID	Year
1	Germline Heterozygous Variants in SEC23B Are Associated with Cowden Syndrome and Enriched in Apparently Sporadic Thyroid Cancer. ⁶¹ ⁶	Yehia L...Eng C	26522472	2015
2	Genetic/familial high-risk assessment: breast and ovarian, version 1.2014. ⁶¹ ⁶	Daly MB...National comprehensive cancer network	25190698	2014
3	Germline PIK3CA and AKT1 mutations in Cowden and Cowden-like syndromes. ⁶¹ ⁶	Orloff MS...Eng C	23246288	2013
4	Succinate dehydrogenase gene variants and their role in Cowden syndrome. ⁶¹ ⁶	Bayley JP	21565294	2011
5	Germline epigenetic regulation of KILLIN in Cowden and Cowden-like syndrome. ⁶¹ ⁶	Bennett KL...Eng C	21177507	2010
6	Germline mutations and variants in the succinate dehydrogenase genes in Cowden and Cowden-like syndromes. ⁶¹ ⁶	Ni Y...Eng C	18678321	2008
7	Clinical genetics evaluation in identifying the etiology of autism spectrum disorders: 2013 guideline revisions. ⁶	Schaefer GB...Professional Practice and Guidelines Committee	23519317	2013
8	The first Dutch SDHB founder deletion in paraganglioma-pheochromocytoma patients. ⁶	Bayley JP...Weiss MM	19368708	2009
9	Differential expression of PTEN-targeting microRNAs miR-19a and miR-21 in Cowden syndrome. ⁶¹ ⁴⁶	Pezzolesi MG...Eng C	18460397	2008
10	Absence of somatic SDHD mutations in sporadic neuroendocrine tumors and detection of two germline variants in paraganglioma patients. ⁶	Perren A...Komminoth P	12386824	2002
11	Identification of novel SDHD mutations in patients with phaeochromocytoma and/or paraganglioma. ⁶	Cascon A...Robledo M	12111639	2002
12	Alterations of the SDHD gene locus in midgut carcinoids, Merkel cell carcinomas, pheochromocytomas, and abdominal paragangliomas. ⁶	Kytola S...Larsson C	12007193	2002
13	Germline SDHD mutation in paraganglioma of the spinal cord. ⁶	Masuoka J...Ohgaki H	11526495	2001
14	Somatic and occult germ-line mutations in SDHD, a mitochondrial complex II gene, in nonfamilial pheochromocytoma. ⁶	Gimm O...Eng C	11156372	2000
15	Mutations in SDHD, a mitochondrial complex II gene, in hereditary paraganglioma. ⁶	Baysal BE...Devlin B	10657297	2000
16	Pacinian collagenoma: A distinct form of sclerotic fibroma. ⁶¹	Krivosikova L...Babal P	31606915	2020
17	BRCA and Beyond: Comprehensive Image-rich Review of Hereditary Breast and Gynecologic Cancer Syndromes. ⁶¹	Chung SH...Patel MK	32031911	2020
18	An update on the CNS manifestations of brain tumor polyposis syndromes. ⁶¹	Kim B...Hawkins C	31970492	2020
19	Genome sequencing analysis of a family with a child displaying severe abdominal distention and recurrent hypoglycemia. ⁶¹	Liu J...Sun Z	31971667	2020
20	Multiple Eyelid Neoplasms in Cowden Syndrome. ⁶¹	Sweeney AR...Shetlar DJ	31923094	2020
21	The Clinical Spectrum of PTEN Mutations. ⁶¹	Yehia L...Eng C	31433956	2020
22	Endometrial Endometrioid Carcinoma With Ovarian Metastasis Showing Morula-like Features in a Patient With Cowden Syndrome: A Case Report. ⁶¹	Kuno I...Kato T	30676432	2020
23	Resection of a Symptomatic Dysplastic Cerebellar Gangliocytoma: 2-Dimensional Operative Video. ⁶¹	El Ahmadieh TY...Patel T	31807781	2019
24	Hereditary Cancer Syndromes and Risk Assessment: ACOG COMMITTEE OPINION SUMMARY, Number 793. ⁶¹		31764755	2019
25	Hereditary Cancer Syndromes and Risk Assessment: ACOG COMMITTEE OPINION, Number 793. ⁶¹		31764758	2019
26	Gingival Papillomatosis as the Oral Sign of Cowden Syndrome: A Case Report. ⁶¹	Glavina A...Mravak-Stipetic M	31969239	2019
27	Thyroid Tumors You Don't Want to Miss. ⁶¹	Wong KS...Barletta JA	31672297	2019
28	PTEN Hamartoma tumor syndrome in childhood: A review of the clinical literature. ⁶¹	Macken WL...Lachlan KL	31609537	2019
29	Imaging of PTEN-related abnormalities in the central nervous system. ⁶¹	Dhamija R...Hoxworth JM	31927175	2019
30	Spectrum of gastrointestinal tract pathology in a multicenter cohort of 43 Cowden syndrome patients. ⁶¹	Borowsky J...Brown IS	31273317	2019
31	A Pilot Study of Sirolimus in Subjects with Cowden Syndrome or Other Syndromes Characterized by Germline Mutations in PTEN. ⁶¹	Komiya T...Dennis PA	31350329	2019
32	Signet ring cell variant of follicular thyroid carcinoma: Report of two cases with focus on morphological, expressional and genetic characteristics. ⁶¹	Hysek M...Juhlin CC	31699114	2019
33	Mystery Case: Cowden syndrome presenting with paraneoplastic encephalitis. ⁶¹	Yao MS...Liu J	31659132	2019
34	Cowden syndrome: gastrointestinal manifestations of an infrequent polyposis. ⁶¹	Mendez D...Olano C	31096272	2019
35	Metachronous ovarian endometrioid carcinomas in a patient with a PTEN variant: case report of incidentally detected Cowden syndrome. ⁶¹	Matsubayashi H...Yamaguchi K	31664961	2019
36	Distinct Alterations in Tricarboxylic Acid Cycle Metabolites Associate with Cancer and Autism Phenotypes in Cowden Syndrome and Bannayan-Riley-Ruvalcaba Syndrome. ⁶¹	Yehia L...Eng C	31564436	2019
37	Toward Systems Pathology for PTEN Diagnostics. ⁶¹	Haddadi N...Marsh DJ	31615872	2019
38	Clinical, Imaging, and Pathologic Features of Conditions with Combined Esophageal and Cutaneous Manifestations. ⁶¹	Lee MH...Pickhardt PJ	31419189	2019
39	Hereditary Gastrointestinal Cancer Syndromes: Role of Imaging in Screening, Diagnosis, and Management. ⁶¹	Katabathina VS...Prasad SR	31373866	2019
40	Intramucosal fat is uncommon in large bowel polyps but raises three differential diagnoses. ⁶¹	Wong NACS...O'Mahony O	31097491	2019
41	Bilateral Recurrent Dysplastic Cerebellar Gangliocytoma (Lhermitte-Duclos Disease) in Cowden Syndrome: A Case Report and Literature Review. ⁶¹	Khandpur U...Elder JB	30905649	2019
42	Left atrial cavernous haemangioma presenting with cardiac tamponade in a patient with Cowden syndrome. ⁶¹	Drucker A...Weinberg L	31289165	2019
43	Enlarging left atrial haemangioma in a patient with Cowden syndrome. ⁶¹	Lamanna A...Seevenayagam S	31352392	2019
44	Letter to the Editor Regarding "Giant Cerebral Aneurysm in a Patient with Cowden Syndrome Treated with Surgical Clipping". ⁶¹	Sahu KK...George SV	31266126	2019
45	In Reply to the Letter to Editor Regarding "Giant Cerebral Aneurysm in a Patient with Cowden Syndrome Treated with Surgical Clipping". ⁶¹	Suzuki K...Yamamoto J	31266127	2019
46	Giant Cerebral Aneurysm in a Patient with Cowden Syndrome Treated with Surgical Clipping. ⁶¹	Toh K...Yamamoto J	30904793	2019
47	Is Malignant Germ-Cell Tumor Associated With Cowden Syndrome? ⁶¹	Rushin L...Bagrodia A	30733184	2019
48	Cowden syndrome caused by a novel mutation: Endoscopy aided diagnosis. ⁶¹	Bronswijk M...Roelandt P	30952542	2019
49	PTEN Hamartoma Tumor Syndrome: A Clinical Overview. ⁶¹	Pilarski R	31216739	2019
50	Current Knowledge of Germline Genetic Risk Factors for the Development of Non-Medullary Thyroid Cancer. ⁶¹	Hincza K...Kowalska A	31247975	2019

Sources

Genes for Cowden Syndrome

Genes related to Cowden Syndrome (10 elite genes):

(show top 50) (show all 80)

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubmedIds
1	PTEN	Phosphatase And Tensin Homolog	Protein Coding	799.37	Pathogenic ⁶ Causative germline mutation (loss of function) ⁵⁸ DISEASES inferred ¹⁵ GeneCards inferred via : Disorders Publications Functions Variants (show sections)	25190698 23519317
	PTEN::MIR19A ⁴⁶	MIR19A Macro RNA (hsa-miR-19a) targets PTEN
	PTEN::MIR21 ⁴⁶	MIR21 Macro RNA (hsa-miR-21) targets PTEN
2	PIK3CA	Phosphatidylinositol-4,5-Bisphosphate 3-Kinase Catalytic Subunit Alpha	Protein Coding	785.44	Pathogenic/Likely pathogenic ⁶ Causative germline mutation (gain of function) ⁵⁸ DISEASES inferred ¹⁵ GeneCards inferred via : Disorders Publications Variants (show sections)	23246288 25190698 23519317
3	SDHB	Succinate Dehydrogenase Complex Iron Sulfur Subunit B	Protein Coding	764.56	Pathogenic ⁶ Causative germline mutation ⁵⁸ DISEASES inferred ¹⁵ GeneCards inferred via : Variants (show sections)	18678321 19368708 25190698 (more) 23519317
4	KLLN	Killin, P53 Regulated DNA Replication Inhibitor	Protein Coding	384.54	Causative germline mutation ⁵⁸ DISEASES inferred ¹⁵ GeneCards inferred via : Disorders Publications Variants (show sections)
5	SEC23B	SEC23 Homolog B, COPII Coat Complex Component	Protein Coding	382.48	Causative germline mutation ⁵⁸ DISEASES inferred ¹⁵ GeneCards inferred via : Disorders Publications Variants (show sections)
6	AKT1	AKT Serine/Threonine Kinase 1	Protein Coding	376	Causative germline mutation (gain of function) ⁵⁸ DISEASES inferred ¹⁵ GeneCards inferred via : Disorders Variants (show sections)
7	SDHD	Succinate Dehydrogenase Complex Subunit D	Protein Coding	375.32	Causative germline mutation ⁵⁸ DISEASES inferred ¹⁵ GeneCards inferred via : Publications Variants (show sections)
8	SDHC	Succinate Dehydrogenase Complex Subunit C	Protein Coding	355.29	Causative germline mutation ⁵⁸ DISEASES inferred ¹⁵
9	MIR21	MicroRNA 21	RNA Gene	354.32	Causal ⁴⁶ DISEASES inferred ¹⁵	18460397
10	MIR19A	MicroRNA 19a	RNA Gene	353.53	Causal ⁴⁶ DISEASES inferred ¹⁵	18460397
11	BMPR1A	Bone Morphogenetic Protein Receptor Type 1A	Protein Coding	13.81	DISEASES inferred ¹⁵ GeneCards inferred via : Publications (show sections)
12	BRCA2	BRCA2 DNA Repair Associated	Protein Coding	13.67	DISEASES inferred ¹⁵ GeneCards inferred via : Publications (show sections)
13	SMAD4	SMAD Family Member 4	Protein Coding	12.92	DISEASES inferred ¹⁵ GeneCards inferred via : Publications (show sections)
14	EGFR	Epidermal Growth Factor Receptor	Protein Coding	12.02	DISEASES inferred ¹⁵ GeneCards inferred via : Variants (show sections)
15	USF1	Upstream Transcription Factor 1	Protein Coding	10.98	DISEASES inferred ¹⁵ GeneCards inferred via : Publications (show sections)
16	USF2	Upstream Transcription Factor 2, C-Fos Interacting	Protein Coding	10.81	DISEASES inferred ¹⁵ GeneCards inferred via : Publications (show sections)
17	CDKN3	Cyclin Dependent Kinase Inhibitor 3	Protein Coding	10.72	DISEASES inferred ¹⁵ GeneCards inferred via : Publications (show sections)
18	RASAL1	RAS Protein Activator Like 1	Protein Coding	10.02	DISEASES inferred ¹⁵ GeneCards inferred via : Publications (show sections)
19	TNS1	Tensin 1	Protein Coding	7.71	DISEASES inferred ¹⁵
20	LYPD1	LY6/PLAUR Domain Containing 1	Protein Coding	7.43	DISEASES inferred ¹⁵
21	DUSP13	Dual Specificity Phosphatase 13	Protein Coding	7.4	GeneCards inferred via : Publications (show sections)
22	STK11	Serine/Threonine Kinase 11	Protein Coding	7.36	DISEASES inferred ¹⁵
23	RINT1	RAD50 Interactor 1	Protein Coding	7.28	GeneCards inferred via : Variants (show sections)
24	BRCA1	BRCA1 DNA Repair Associated	Protein Coding	7.03	DISEASES inferred ¹⁵
25	MUTYH	MutY DNA Glycosylase	Protein Coding	6.98	DISEASES inferred ¹⁵
26	TSC2	TSC Complex Subunit 2	Protein Coding	6.8	DISEASES inferred ¹⁵
27	ACP1	Acid Phosphatase 1	Protein Coding	6.71	GeneCards inferred via : Publications (show sections)
28	SAR1A	Secretion Associated Ras Related GTPase 1A	Protein Coding	6.71	GeneCards inferred via : Publications (show sections)
29	TP53	Tumor Protein P53	Protein Coding	6.64	DISEASES inferred ¹⁵
30	MTOR	Mechanistic Target Of Rapamycin Kinase	Protein Coding	6.58	DISEASES inferred ¹⁵
31	PALB2	Partner And Localizer Of BRCA2	Protein Coding	6.55	DISEASES inferred ¹⁵
32	NF1	Neurofibromin 1	Protein Coding	6.44	DISEASES inferred ¹⁵
33	PMS2	PMS1 Homolog 2, Mismatch Repair System Component	Protein Coding	6.42	DISEASES inferred ¹⁵
34	CHEK2	Checkpoint Kinase 2	Protein Coding	6.42	DISEASES inferred ¹⁵
35	TSC1	TSC Complex Subunit 1	Protein Coding	6.39	DISEASES inferred ¹⁵
36	MSH6	MutS Homolog 6	Protein Coding	6.38	DISEASES inferred ¹⁵
37	MSH2	MutS Homolog 2	Protein Coding	6.28	DISEASES inferred ¹⁵
38	MLH1	MutL Homolog 1	Protein Coding	6.16	DISEASES inferred ¹⁵
39	FLCN	Folliculin	Protein Coding	6.14	DISEASES inferred ¹⁵
40	RHEB	Ras Homolog, MTORC1 Binding	Protein Coding	6.12	DISEASES inferred ¹⁵
41	ATM	ATM Serine/Threonine Kinase	Protein Coding	6.11	DISEASES inferred ¹⁵
42	POLD1	DNA Polymerase Delta 1, Catalytic Subunit	Protein Coding	5.98	DISEASES inferred ¹⁵
43	NEDD4	NEDD4 E3 Ubiquitin Protein Ligase	Protein Coding	5.9	DISEASES inferred ¹⁵
44	RPS6KB1	Ribosomal Protein S6 Kinase B1	Protein Coding	5.82	DISEASES inferred ¹⁵
45	RET	Ret Proto-Oncogene	Protein Coding	5.78	DISEASES inferred ¹⁵
46	AKT3	AKT Serine/Threonine Kinase 3	Protein Coding	5.71	DISEASES inferred ¹⁵
47	PIK3R2	Phosphoinositide-3-Kinase Regulatory Subunit 2	Protein Coding	5.71	DISEASES inferred ¹⁵
48	CENPC	Centromere Protein C	Protein Coding	5.7	DISEASES inferred ¹⁵
49	GREM1	Gremlin 1, DAN Family BMP Antagonist	Protein Coding	5.7	DISEASES inferred ¹⁵
50	PMS1	PMS1 Homolog 1, Mismatch Repair System Component	Protein Coding	5.68	DISEASES inferred ¹⁵

Sources

Variations for Cowden Syndrome

ClinVar genetic disease variations for Cowden Syndrome:

⁶ (show top 50) (show all 125) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎

#	Gene	Name	Type	Significance	ClinVarId	dbSNP ID	GRCh37 Pos	GRCh38 Pos
1	PTEN	NM_000314.7(PTEN):c.406T>C (p.Cys136Arg)	SNV	Pathogenic	183726	rs786201044	10:89692922-89692922	10:87933165-87933165
2	PIK3CA	NM_006218.4(PIK3CA):c.3129G>T (p.Met1043Ile)	SNV	Pathogenic	217292	rs121913283	3:178952074-178952074	3:179234286-179234286
3	PTEN	NM_000314.7(PTEN):c.118G>T (p.Glu40Ter)	SNV	Pathogenic	224545	rs869312778	10:89653820-89653820	10:87894063-87894063
4	PTEN	NM_001304718.2(PTEN):c.-327del	deletion	Pathogenic	224546	rs869312779	10:89692940-89692940	10:87933183-87933183
5	PTEN	NM_000314.7(PTEN):c.765_766AG[1] (p.Glu256fs)	short repeat	Pathogenic	224547	rs869312780	10:89717740-89717741	10:87957983-87957984
6	PTEN	NM_000314.7(PTEN):c.697C>T (p.Arg233Ter)	SNV	Pathogenic	7813	rs121909219	10:89717672-89717672	10:87957915-87957915
7	PIK3CA	NM_006218.4(PIK3CA):c.1133G>A (p.Cys378Tyr)	SNV	Pathogenic	39704	rs397514565	3:178922364-178922364	3:179204576-179204576
8	PIK3CA	NM_006218.4(PIK3CA):c.3139C>T (p.His1047Tyr)	SNV	Pathogenic	39705	rs121913281	3:178952084-178952084	3:179234296-179234296
9	SDHB	NM_003000.2(SDHB):c.591del (p.Ser198fs)	deletion	Pathogenic	412462	rs1060503757	1:17350519-17350519	1:17024024-17024024
10	PIK3CA	NM_006218.4(PIK3CA):c.1093G>A (p.Glu365Lys)	SNV	Pathogenic	419222	rs1064793732	3:178922324-178922324	3:179204536-179204536
11	PIK3CA	NM_006218.4(PIK3CA):c.3129G>A (p.Met1043Ile)	SNV	Pathogenic/Likely pathogenic	179173	rs121913283	3:178952074-178952074	3:179234286-179234286
12	PIK3CA	NM_006218.4(PIK3CA):c.1030G>A (p.Val344Met)	SNV	Pathogenic/Likely pathogenic	376498	rs1057519942	3:178921548-178921548	3:179203760-179203760
13	PTEN	NM_000314.7(PTEN):c.486C>G (p.Asp162Glu)	SNV	Likely pathogenic	224544	rs869312777	10:89693002-89693002	10:87933245-87933245
14	PTEN	NM_000314.7(PTEN):c.344A>G (p.Asp115Gly)	SNV	Likely pathogenic	224542	rs869312775	10:89692860-89692860	10:87933103-87933103
15	PTEN	NM_000314.7(PTEN):c.408T>G (p.Cys136Trp)	SNV	Likely pathogenic	224543	rs869312776	10:89692924-89692924	10:87933167-87933167
16	PTEN	NM_000314.8(PTEN):c.1023del (p.Phe341fs)	deletion	Likely pathogenic	623215	rs1564568689	10:89720869-89720869	10:87961112-87961112
17	SDHB	NM_003000.2(SDHB):c.8C>G (p.Ala3Gly)	SNV	Conflicting interpretations of pathogenicity	12791	rs11203289	1:17380507-17380507	1:17054012-17054012
18	SDHB	NM_003000.2(SDHB):c.487T>C (p.Ser163Pro)	SNV	Conflicting interpretations of pathogenicity	12792	rs33927012	1:17354297-17354297	1:17027802-17027802
19	SDHB	NM_003000.2(SDHB):c.32G>A (p.Arg11His)	SNV	Conflicting interpretations of pathogenicity	36768	rs111430410	1:17380483-17380483	1:17053988-17053988
20	SDHB	NM_003000.2(SDHB):c.650G>A (p.Arg217His)	SNV	Conflicting interpretations of pathogenicity	412491	rs747518441	1:17349218-17349218	1:17022723-17022723
21	SDHB	NM_003000.2(SDHB):c.200+7A>G	SNV	Conflicting interpretations of pathogenicity	239424	rs371329778	1:17371249-17371249	1:17044754-17044754
22	PIK3CA	NM_006218.4(PIK3CA):c.*29T>C	SNV	Conflicting interpretations of pathogenicity	246606	rs141178472	3:178952181-178952181	3:179234393-179234393
23	PTEN	NM_000314.7(PTEN):c.838A>G (p.Ile280Val)	SNV	Conflicting interpretations of pathogenicity	468719	rs1474354667	10:89720687-89720687	10:87960930-87960930
24	PIK3CA	NM_006218.4(PIK3CA):c.742G>A (p.Gly248Ser)	SNV	Uncertain significance	523491	rs1553820694	3:178919257-178919257	3:179201469-179201469
25	PIK3CA	NM_006218.4(PIK3CA):c.178C>A (p.Gln60Lys)	SNV	Uncertain significance	526635	rs71310379	3:178916791-178916791	3:179199003-179199003
26	PIK3CA	NM_006218.4(PIK3CA):c.141T>G (p.His47Gln)	SNV	Uncertain significance	456528	rs768265254	3:178916754-178916754	3:179198966-179198966
27	PIK3CA	NM_006218.4(PIK3CA):c.466C>T (p.Leu156Phe)	SNV	Uncertain significance	456547	rs201705993	3:178917591-178917591	3:179199803-179199803
28	PIK3CA	NM_006218.4(PIK3CA):c.931A>G (p.Ile311Val)	SNV	Uncertain significance	526636	rs201238717	3:178921449-178921449	3:179203661-179203661
29	PIK3CA	NM_006218.4(PIK3CA):c.995G>T (p.Ser332Ile)	SNV	Uncertain significance	526639	rs1262394031	3:178921513-178921513	3:179203725-179203725
30	PIK3CA	NM_006218.4(PIK3CA):c.386A>G (p.Asp129Gly)	SNV	Uncertain significance	526634	rs1553820490	3:178917511-178917511	3:179199723-179199723
31	PIK3CA	NM_006218.4(PIK3CA):c.2651A>G (p.Lys884Arg)	SNV	Uncertain significance	526637	rs1395235750	3:178947215-178947215	3:179229427-179229427
32	PIK3CA	NM_006218.4(PIK3CA):c.436G>A (p.Val146Ile)	SNV	Uncertain significance	526641	rs755969956	3:178917561-178917561	3:179199773-179199773
33	PIK3CA	NM_006218.4(PIK3CA):c.560A>C (p.Lys187Thr)	SNV	Uncertain significance	526638	rs1553820520	3:178917685-178917685	3:179199897-179199897
34	PIK3CA	NM_006218.4(PIK3CA):c.361A>G (p.Ile121Val)	SNV	Uncertain significance	246688	rs371727887	3:178917486-178917486	3:179199698-179199698
35	PIK3CA	NM_006218.4(PIK3CA):c.1490A>G (p.Asn497Ser)	SNV	Uncertain significance	246681	rs753879573	3:178928304-178928304	3:179210516-179210516
36	PIK3CA	NM_006218.4(PIK3CA):c.2016-3T>C	SNV	Uncertain significance	246682	rs879254354	3:178938771-178938771	3:179220983-179220983
37	SDHB	NM_003000.2(SDHB):c.112C>T (p.Arg38Cys)	SNV	Uncertain significance	371801	rs202119350	1:17371344-17371344	1:17044849-17044849
38	PIK3CA	NM_006218.4(PIK3CA):c.317G>T (p.Gly106Val)	SNV	Uncertain significance	376479	rs1057519930	3:178916930-178916930	3:179199142-179199142
39	SDHB	NM_003000.2(SDHB):c.721T>G (p.Tyr241Asp)	SNV	Uncertain significance	412464	rs1060503758	1:17349147-17349147	1:17022652-17022652
40	SDHB	NM_003000.2(SDHB):c.307A>G (p.Met103Val)	SNV	Uncertain significance	239429	rs140178341	1:17355211-17355211	1:17028716-17028716
41	PIK3CA	NM_006218.4(PIK3CA):c.1747A>G (p.Met583Val)	SNV	Uncertain significance	456533	rs1553823608	3:178937359-178937359	3:179219571-179219571
42	PIK3CA	NM_006218.4(PIK3CA):c.2453G>A (p.Arg818His)	SNV	Uncertain significance	456540	rs371049193	3:178943786-178943786	3:179225998-179225998
43	PIK3CA	NM_006218.4(PIK3CA):c.154G>C (p.Glu52Gln)	SNV	Uncertain significance	456530	rs1553820355	3:178916767-178916767	3:179198979-179198979
44	PIK3CA	NM_006218.4(PIK3CA):c.321_323del (p.Arg108del)	deletion	Uncertain significance	456545	rs1553820399	3:178916934-178916936	3:179199146-179199148
45	PIK3CA	NM_006218.4(PIK3CA):c.400C>T (p.Pro134Ser)	SNV	Uncertain significance	456546	rs750545881	3:178917525-178917525	3:179199737-179199737
46	PIK3CA	NM_006218.4(PIK3CA):c.1528C>A (p.His510Asn)	SNV	Uncertain significance	456529	rs199747934	3:178928342-178928342	3:179210554-179210554
47	PIK3CA	NM_006218.4(PIK3CA):c.2728A>G (p.Ile910Val)	SNV	Uncertain significance	456542	rs1553825421	3:178947853-178947853	3:179230065-179230065
48	PIK3CA	NM_006218.4(PIK3CA):c.2915C>T (p.Thr972Ile)	SNV	Uncertain significance	456544	rs1553825480	3:178948143-178948143	3:179230355-179230355
49	PIK3CA	NM_006218.4(PIK3CA):c.211G>A (p.Val71Ile)	SNV	Uncertain significance	456536	rs201269904	3:178916824-178916824	3:179199036-179199036
50	SDHB	NM_003000.2(SDHB):c.440A>G (p.Tyr147Cys)	SNV	Uncertain significance	412466	rs774568101	1:17354344-17354344	1:17027849-17027849

Cosmic variations for Cowden Syndrome:

⁹

#	Cosmic Mut ID	Gene Symbol	COSMIC Disease Classification (Primary site, Site subtype, Primary histology, Histology subtype)	Mutation CDS	Mutation AA	GRCh38 Location	Conf
1	COSM133535772	AKT1	skin,neck,Overgrowth syndrome,Proteus syndrome	c.49G>A	p.E17K	14:104780214-104780214	4

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 KEGG:

³⁶

#	Name	Kegg Source Accession
1	Non-alcoholic fatty liver disease (NAFLD)	hsa04932

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

(show all 29)

#	Super pathways	Score	Top Affiliating Genes
1	Endometrial cancer ³⁶ Show member pathways Acute myeloid leukemia ³⁶ Binding of TCF/LEF-CTNNB1 to target gene promoters ⁶⁵ Chronic myeloid leukemia ³⁶ Colorectal cancer ³⁶ Pancreatic cancer ³⁶ Prostate cancer ³⁶ Signal transduction PTEN pathway ²² Thyroid cancer ³⁶	12.75	SMAD4 PTEN PIK3CA EGFR BRCA2 AKT1
2	Pathways in cancer ³⁶	12.71	SMAD4 PTEN PIK3CA EGFR BRCA2 AKT1
3	Glioma ³⁶ Show member pathways Endocrine resistance ³⁶ Melanoma ³⁶ Non-small cell lung cancer ³⁶ Signaling Pathways in Glioblastoma ¹	12.59	PTEN PIK3CA EGFR BRCA2 AKT1
4	Gastric cancer ³⁶ Show member pathways Breast cancer ³⁶ Hepatocellular carcinoma ³⁶	12.51	SMAD4 PTEN PIK3CA EGFR BRCA2 AKT1
5	MicroRNAs in cancer ³⁶	12.43	PTEN PIK3CA MIR21 MIR19A EGFR
6	Apoptosis Pathway ⁷⁰ Show member pathways Akt Pathway ⁷⁰ NF-kappaB Pathway ⁷⁰	12.36	PIK3CA EGFR BMPR1A AKT1
7	Human T-cell leukemia virus 1 infection ³⁶	12.26	SMAD4 PTEN PIK3CA AKT1
8	Proteoglycans in cancer ³⁶	12.22	PIK3CA MIR21 EGFR AKT1
9	Development EGFR signaling via small GTPases ²² Show member pathways Development EGFR signaling via PIP3 ²² Development PDGF signaling via MAPK cascades ²² PDGF Pathway ¹	12.05	PTEN PIK3CA EGFR AKT1
10	Transcription Androgen Receptor nuclear signaling ²² Show member pathways Translation Non-genomic (rapid) action of Androgen Receptor ²²	12.02	PTEN PIK3CA EGFR AKT1
11	Signaling pathways regulating pluripotency of stem cells ³⁶	11.99	SMAD4 PIK3CA BMPR1A AKT1
12	DNA Damage Response (only ATM dependent) ¹	11.82	SMAD4 PTEN PIK3CA AKT1
13	Small cell lung cancer ³⁶	11.78	PTEN PIK3CA AKT1
14	PI3K / Akt Signaling ⁴	11.78	PTEN PIK3CA AKT1
15	Sterol Regulatory Element-Binding Proteins (SREBP) signalling ¹	11.66	SEC23B PIK3CA AKT1
16	Pathways Affected in Adenoid Cystic Carcinoma ¹	11.61	PTEN PIK3CA AKT1
17	Androgen receptor signaling pathway ¹	11.58	SMAD4 PTEN EGFR AKT1
18	PDGFR-beta signaling pathway ¹	11.5	PTEN PIK3CA AKT1
19	Copper homeostasis ¹	11.49	PTEN PIK3CA AKT1
20	IL-2 Gene Expression in Activated and Quiescent T-Cells ⁶³ Show member pathways TOB in T-Cell Signaling ⁶³	11.49	SMAD4 PIK3CA EGFR AKT1
21	FoxO signaling pathway ³⁶ Show member pathways PLK2 and PLK4 events ¹ Polo-like kinase signaling events in the cell cycle ¹	11.49	SMAD4 PTEN PIK3CA EGFR AKT1
22	Signaling events mediated by PTP1B ¹	11.45	PIK3CA EGFR AKT1
23	Central carbon metabolism in cancer ³⁶	11.3	PTEN PIK3CA EGFR AKT1
24	Integrated Breast Cancer Pathway ¹	11.29	SMAD4 PTEN EGFR BRCA2 BMPR1A AKT1
25	a6b1 and a6b4 Integrin signaling ¹	11.14	PIK3CA EGFR AKT1
26	Telomere Extension by Telomerase ⁶³ Show member pathways XAV939 inhibits tankyrase, stabilizing AXIN ⁶⁵	11.13	SMAD4 PIK3CA AKT1
27	PI3K-AKT-mTOR signaling pathway and therapeutic opportunities ¹	11.09	PTEN PIK3CA AKT1
28	Extracellular vesicle-mediated signaling in recipient cells ¹	11.06	SMAD4 EGFR AKT1
29	E-cadherin signaling in keratinocytes ¹	10.71	PIK3CA EGFR AKT1

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	SDHC SDHB
2	mitochondrial respiratory chain complex II, succinate dehydrogenase complex (ubiquinone)	GO:0005749	8.8	SDHD SDHC SDHB

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

(show all 24)

#	Name	GO ID	Score	Top Affiliating Genes
1	negative regulation of apoptotic process	GO:0043066	10	PTEN MIR21 MIR19A EGFR AKT1
2	intracellular signal transduction	GO:0035556	9.95	TNS1 SMAD4 RASAL1 EGFR AKT1
3	cellular response to insulin stimulus	GO:0032869	9.79	USF1 PTEN AKT1
4	BMP signaling pathway	GO:0030509	9.77	SMAD4 MIR21 BMPR1A
5	positive regulation of peptidyl-serine phosphorylation	GO:0033138	9.77	PIK3CA EGFR AKT1
6	negative regulation of ERK1 and ERK2 cascade	GO:0070373	9.73	SMAD4 PTEN MIR21
7	cellular response to growth factor stimulus	GO:0071363	9.71	EGFR BMPR1A AKT1
8	glucose metabolic process	GO:0006006	9.69	USF1 PIK3CA AKT1
9	epidermal growth factor receptor signaling pathway	GO:0007173	9.65	PIK3CA EGFR AKT1
10	negative regulation of macroautophagy	GO:0016242	9.61	PIK3CA AKT1
11	positive regulation of SMAD protein signal transduction	GO:0060391	9.58	SMAD4 BMPR1A
12	anoikis	GO:0043276	9.58	PIK3CA AKT1
13	protein kinase B signaling	GO:0043491	9.58	PTEN PIK3CA AKT1
14	negative regulation of cell size	GO:0045792	9.57	PTEN AKT1
15	tricarboxylic acid cycle	GO:0006099	9.54	SDHD SDHC SDHB
16	mesendoderm development	GO:0048382	9.52	SMAD4 BMPR1A
17	mitochondrial electron transport, succinate to ubiquinone	GO:0006121	9.49	SDHD SDHC
18	cellular response to decreased oxygen levels	GO:0036294	9.46	PTEN AKT1
19	late viral transcription	GO:0019086	9.43	USF2 USF1
20	cell proliferation	GO:0008283	9.35	SMAD4 PTEN EGFR BRCA2 AKT1
21	response to UV-A	GO:0070141	9.32	EGFR AKT1
22	positive regulation of transcription from RNA polymerase II promoter by glucose	GO:0000432	9.26	USF2 USF1
23	positive regulation of transcription, DNA-templated	GO:0045893	9.17	USF2 USF1 SMAD4 EGFR BRCA2 BMPR1A
24	regulation of transcription from RNA polymerase II promoter by glucose	GO:0000430	9.16	USF2 USF1

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	9.5	SDHD SDHC SDHB
2	ubiquinone binding	GO:0048039	9.26	SDHD SDHB
3	nitric-oxide synthase regulator activity	GO:0030235	9.16	EGFR AKT1
4	succinate dehydrogenase (ubiquinone) activity	GO:0008177	8.96	SDHD SDHB
5	succinate dehydrogenase activity	GO:0000104	8.62	SDHD SDHC

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 FMA

²⁰ GeneAnalytics

²¹ GeneCards

²² GeneGo (Thomson Reuters)

²³ GeneHancer via GeneCards

²⁴ GeneReviews

²⁵ Genetics Home Reference

²⁶ GenomeRNAi

²⁷ GEO DataSets

²⁸ GO

²⁹ GTR

³⁰ HMDB

³¹ HPO

³² ICD10

³³ ICD10 via Orphanet

³⁴ ICD9CM

³⁵ IUPHAR

³⁶ KEGG

³⁷ LifeMap

³⁸ LncRNADisease

³⁹ LOVD

⁴⁰ MalaCards

⁴¹ MedGen

⁴² MedlinePlus

⁴³ MeSH

⁴⁴ MESH via Orphanet

⁴⁵ MGI

⁴⁶ miR2Disease

⁴⁷ NCBI Bookshelf

⁴⁸ NCI

⁴⁹ NCIt

⁵⁰ NDF-RT

⁵¹ NIH Clinical Center

⁵² NIH Rare Diseases

⁵³ NINDS

⁵⁴ Novoseek

⁵⁵ Novus Biologicals

⁵⁶ OMIM

⁵⁷ OMIM via Orphanet

⁵⁸ Orphanet

⁵⁹ PathCards

⁶⁰ PharmGKB

⁶¹ PubMed

⁶² PubMed Health

⁶³ QIAGEN

⁶⁴ R&D Systems

⁶⁵ Reactome

⁶⁶ Sino Biological

⁶⁷ SNOMED-CT

⁶⁸ SNOMED-CT via HPO

⁶⁹ TGDB

⁷⁰ Tocris

⁷¹ UMLS

⁷² UMLS via Orphanet

⁷³ UniProtKB/Swiss-Prot

⁷⁴ Wikipedia

Cowden Syndrome (CD)

Aliases & Classifications for Cowden Syndrome

MalaCards integrated aliases for Cowden Syndrome:

Characteristics:

Orphanet epidemiological data:

Classifications:

External Ids:

Summaries for Cowden Syndrome

Related Diseases for Cowden Syndrome

Diseases in the Cowden Syndrome family:

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

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

Symptoms & Phenotypes for Cowden Syndrome

Human phenotypes related to Cowden Syndrome:

UMLS symptoms related to Cowden Syndrome:

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

MGI Mouse Phenotypes related to Cowden Syndrome:

Drugs & Therapeutics for Cowden Syndrome

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

Interventional clinical trials:

Genetic Tests for Cowden Syndrome

Genetic tests related to Cowden Syndrome:

Anatomical Context for Cowden Syndrome

MalaCards organs/tissues related to Cowden Syndrome:

Publications for Cowden Syndrome

Articles related to Cowden Syndrome:

Genes for Cowden Syndrome

Genes related to Cowden Syndrome (10 elite genes):

Variations for Cowden Syndrome

ClinVar genetic disease variations for Cowden Syndrome:

Cosmic variations for Cowden Syndrome:

Expression for Cowden Syndrome

Pathways for Cowden Syndrome

Pathways related to Cowden Syndrome according to KEGG:

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

GO Terms for Cowden Syndrome

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

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

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

Sources for Cowden Syndrome