CD
MCID: CWD010
MIFTS: 68

Cowden Syndrome (CD)

Categories: Cancer diseases, Cardiovascular 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 11 19 42 58 75 28 5 14
Cowden Disease 11 19 42 58 53
Multiple Hamartoma Syndrome 11 19 42 58
Cowden's Disease 19 42 75
Lhermitte-Duclos Disease 11 71
Mham 19 42
Cs 19 42
Cd 19 42
Dysplastic Gangliocytoma of Cerebellum 11
Hamartoma Syndrome, Multiple 71
Cowden's Syndrome 42

Characteristics:


Inheritance:

Autosomal dominant 58

Prevelance:

1-9/1000000 (Netherlands, Europe) 58

Age Of Onset:

All ages 58

Classifications:

Orphanet: 58  
Rare gastroenterological diseases
Rare skin diseases
Developmental anomalies during embryogenesis


Summaries for Cowden Syndrome

MedlinePlus Genetics: 42 Cowden syndrome is a genetic 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 kidney cancer, colorectal cancer, and an agressive 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. People with Cowden syndrome are also more likely to develop more than one cancer during their lifetimes compared to the general population. 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, intellectual disability, or autism spectrum disorder, which can affect communication and social interaction.Some people do not meet the strict criteria for a clinical diagnosis of Cowden syndrome, but they have some of the characteristic features of the condition, particularly the cancers. These individuals are often described as having Cowden-like syndrome. Both Cowden syndrome and Cowden-like syndrome are caused by mutations in the same genes.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.  Some people with Cowden syndrome have relatives diagnosed with Bannayan-Riley-Ruvalcaba syndrome, and other affected individuals have 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 (named for the genetic cause of the conditions) instead of two distinct conditions.

MalaCards based summary: Cowden Syndrome, also known as cowden disease, is related to cowden syndrome 1 and cowden syndrome 4, and has symptoms including action tremor, seizures and cerebellar ataxia. An important gene associated with Cowden Syndrome is PTEN (Phosphatase And Tensin Homolog), and among its related pathways/superpathways are Signal Transduction and Regulation of TP53 Activity. The drugs Everolimus and Sirolimus have been mentioned in the context of this disorder. Affiliated tissues include thyroid, breast and skin, and related phenotypes are generalized hyperkeratosis and palmoplantar keratoderma

GARD: 19 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 genetic changes in the PTEN gene and are inherited in an autosomal dominant manner.

Orphanet: 58 A genodermatosis characterized by the presence of multiple hamartomas in various tissues and an increased risk for malignancies of the breast, thyroid, endometrium, kidney and colorectum. When CS is accompanied by germline PTEN mutations, it belongs to the PTEN hamartoma tumor syndrome (PHTS) group.

Disease Ontology: 11 A PTEN hamartoma tumor syndrome that is characterized by multiple noncancerous, tumor-like growths (hamartomas) and an increased risk of certain forms of cancer, especially breast, thyroid and endometrium.

Wikipedia: 75 Cowden syndrome (also known as Cowden's disease and multiple hamartoma syndrome) is an autosomal... more...

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 518)
# Related Disease Score Top Affiliating Genes
1 cowden syndrome 1 33.5 USF3 TSC2 TSC1 STK11 SMAD4 SEC23B
2 cowden syndrome 4 33.4 TSC2 SDHC SDHB PTEN KLLN
3 juvenile polyposis syndrome 32.4 STK11 SMAD4 PTEN BMPR1A
4 proteus syndrome 32.4 TSC2 TSC1 PTEN PIK3CA CDKN3 BMPR1A
5 bap1 tumor predisposition syndrome 31.7 TSC2 TSC1 STK11 SMAD4 SDHD SDHC
6 inherited cancer-predisposing syndrome 31.7 TSC2 TSC1 STK11 SMAD4 SDHD SDHC
7 medulloblastoma 31.6 TSC2 PTEN PIK3CA MIR19A BRCA2 BRCA1
8 endometrial cancer 31.6 TSC2 SMAD4 PTEN PIK3CA MIR21 CDKN3
9 adenoma 31.4 SMAD4 RET PIK3CA AKT1
10 gangliocytoma 31.4 TSC2 PTEN KLLN
11 meningioma, familial 31.3 TSC1 RET PTEN PIK3CA AKT1
12 breast cancer 31.3 TSC2 TSC1 STK11 SMAD4 RET PTEN
13 thyroid gland follicular carcinoma 31.2 RET PTEN PIK3CA AKT1
14 kidney cancer 31.2 TSC2 TSC1 SDHB PIK3CA MIR21
15 congenital heart defects, hamartomas of tongue, and polysyndactyly 31.1 TSC2 TSC1 PTEN
16 multinodular goiter 31.1 RET PTEN KLLN
17 bilateral breast cancer 31.1 STK11 PTEN BRCA2 BRCA1
18 glioma 31.1 PTEN PIK3CA MIR21 MIR19A
19 neurofibromatosis 31.0 TSC2 SDHD SDHC SDHB RET PTEN
20 adenocarcinoma 31.0 STK11 SMAD4 RET PTEN PIK3CA BRCA2
21 peutz-jeghers syndrome 30.9 TSC2 TSC1 STK11 SMAD4 PTEN BRCA2
22 brain cancer 30.9 TSC1 PTEN PIK3CA MIR21 MIR19A AKT1
23 hemangioma 30.9 TSC2 TSC1 RET PTEN AKT1
24 neurofibromatosis, type i 30.9 TSC2 TSC1 SDHD SDHC SDHB RET
25 glioblastoma 30.9 TSC2 PTEN PIK3CA MIR21 CDKN3 BRCA2
26 malignant astrocytoma 30.8 PTEN MIR21 MIR19A AKT1
27 thyroid tumor 30.8 RET PTEN PIK3CA AKT1
28 hereditary breast cancer 30.8 KLLN BRCA2 BRCA1
29 thyroid gland cancer 30.8 SDHD SDHB RET PTEN PIK3CA AKT1
30 lipomatosis 30.8 PTEN PIK3CA AKT1
31 spinal cord disease 30.8 TSC2 TSC1 PTEN AKT1
32 hereditary breast ovarian cancer syndrome 30.7 STK11 SMAD4 RET PTEN PIK3CA BRCA2
33 lung cancer susceptibility 3 30.7 STK11 SMAD4 PIK3CA MIR21 AKT1
34 lynch syndrome 30.7 STK11 SMAD4 RET PTEN PIK3CA BRCA2
35 breast ductal carcinoma 30.7 SMAD4 PTEN BRCA2 BRCA1
36 renal cell carcinoma, nonpapillary 30.7 TSC2 TSC1 SDHC SDHB RET PTEN
37 lobular neoplasia 30.7 PTEN PIK3CA BRCA2 BRCA1
38 muir-torre syndrome 30.6 PTEN BRCA2 BRCA1
39 skin squamous cell carcinoma 30.6 PTEN MIR21 AKT1
40 intestinal benign neoplasm 30.6 SMAD4 PTEN PIK3CA MIR21 AKT1
41 ovarian clear cell carcinoma 30.6 PTEN PIK3CA MIR21 BRCA1 AKT1
42 ductal carcinoma in situ 30.6 PTEN PIK3CA BRCA2 BRCA1 AKT1
43 multiple endocrine neoplasia 30.6 SDHD SDHC SDHB RET
44 synchronous bilateral breast carcinoma 30.6 PTEN BRCA2 BRCA1
45 ovarian carcinosarcoma 30.6 PIK3CA BRCA2 BRCA1
46 thyroid gland anaplastic carcinoma 30.6 RET PTEN PIK3CA MIR19A AKT1
47 multiple endocrine neoplasia, type iia 30.6 SDHD SDHC SDHB RET
48 gastrointestinal stromal tumor 30.6 SDHD SDHC SDHB RET PTEN PIK3CA
49 ataxia-telangiectasia 30.6 STK11 PTEN CDKN3 BRCA2 BRCA1 AKT1
50 li-fraumeni syndrome 30.5 STK11 SMAD4 PTEN PIK3CA BRCA2 BRCA1

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



Diseases related to Cowden Syndrome

Symptoms & Phenotypes for Cowden Syndrome

Human phenotypes related to Cowden Syndrome:

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

UMLS symptoms related to Cowden Syndrome:


action tremor; seizures; cerebellar ataxia

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

25 (show all 35)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased viability GR00055-A-1 10.94 PIK3CA
2 Decreased viability GR00055-A-2 10.94 PIK3CA
3 Decreased viability GR00221-A-1 10.94 AKT1 BMPR1A PIK3CA RET SDHD
4 Decreased viability GR00221-A-2 10.94 AKT1 BMPR1A PIK3CA RET SDHD BRCA1
5 Decreased viability GR00221-A-3 10.94 AKT1 BMPR1A BRCA1 TSC1
6 Decreased viability GR00221-A-4 10.94 AKT1 BMPR1A PIK3CA RET SDHD
7 Decreased viability GR00249-S 10.94 AKT1 BMPR1A SDHD
8 Decreased viability GR00301-A 10.94 RET BRCA1 TSC1
9 Decreased viability GR00381-A-1 10.94 SDHD
10 Decreased viability GR00402-S-2 10.94 PIK3CA RET
11 Upregulation of Wnt/beta-catenin pathway after WNT3A stimulation GR00016-A 9.77 BRCA1 BRCA2 SMAD4 TSC1 TSC2
12 Increased shRNA abundance (Z-score > 2) GR00366-A-107 9.68 SMAD4
13 Increased shRNA abundance (Z-score > 2) GR00366-A-11 9.68 SMAD4
14 Increased shRNA abundance (Z-score > 2) GR00366-A-116 9.68 TSC1
15 Increased shRNA abundance (Z-score > 2) GR00366-A-127 9.68 TSC1
16 Increased shRNA abundance (Z-score > 2) GR00366-A-151 9.68 PTEN
17 Increased shRNA abundance (Z-score > 2) GR00366-A-16 9.68 PTEN
18 Increased shRNA abundance (Z-score > 2) GR00366-A-168 9.68 PTEN
19 Increased shRNA abundance (Z-score > 2) GR00366-A-195 9.68 SMAD4
20 Increased shRNA abundance (Z-score > 2) GR00366-A-212 9.68 SMAD4
21 Increased shRNA abundance (Z-score > 2) GR00366-A-213 9.68 AKT1
22 Increased shRNA abundance (Z-score > 2) GR00366-A-214 9.68 PTEN
23 Increased shRNA abundance (Z-score > 2) GR00366-A-25 9.68 SMAD4
24 Increased shRNA abundance (Z-score > 2) GR00366-A-42 9.68 PTEN TSC1
25 Increased shRNA abundance (Z-score > 2) GR00366-A-43 9.68 SMAD4
26 Increased shRNA abundance (Z-score > 2) GR00366-A-60 9.68 AKT1 PIK3CA
27 Increased shRNA abundance (Z-score > 2) GR00366-A-63 9.68 PTEN
28 Increased shRNA abundance (Z-score > 2) GR00366-A-66 9.68 PTEN
29 Increased shRNA abundance (Z-score > 2) GR00366-A-70 9.68 AKT1
30 Increased shRNA abundance (Z-score > 2) GR00366-A-85 9.68 AKT1
31 Increased shRNA abundance (Z-score > 2) GR00366-A-87 9.68 PTEN
32 Increased shRNA abundance (Z-score > 2) GR00366-A-93 9.68 PTEN
33 Increased mitotic index GR00110-A-0 9.65 BMPR1A RET SDHD SMAD4 STK11
34 Increased cell viability after pRB stimulation GR00230-A-1 9.26 AKT1 BMPR1A RET STK11
35 Increased sensitivity to paclitaxel GR00112-A-0 8.85 SMAD4

MGI Mouse Phenotypes related to Cowden Syndrome:

45 (show all 19)
# Description MGI Source Accession Score Top Affiliating Genes
1 homeostasis/metabolism MP:0005376 10.44 AKT1 BMPR1A BRCA1 BRCA2 CDKN3 PIK3CA
2 neoplasm MP:0002006 10.43 AKT1 BMPR1A BRCA1 BRCA2 PIK3CA PTEN
3 growth/size/body region MP:0005378 10.37 AKT1 BMPR1A BRCA1 BRCA2 PIK3CA PTEN
4 endocrine/exocrine gland MP:0005379 10.36 AKT1 BMPR1A BRCA1 BRCA2 PIK3CA PTEN
5 normal MP:0002873 10.35 AKT1 BMPR1A BRCA1 BRCA2 PTEN RET
6 nervous system MP:0003631 10.35 AKT1 BMPR1A BRCA1 BRCA2 PIK3CA PTEN
7 cellular MP:0005384 10.33 AKT1 BMPR1A BRCA1 BRCA2 PIK3CA PTEN
8 behavior/neurological MP:0005386 10.33 AKT1 BMPR1A BRCA1 BRCA2 CDKN3 PIK3CA
9 embryo MP:0005380 10.27 AKT1 BMPR1A BRCA1 BRCA2 PIK3CA PTEN
10 muscle MP:0005369 10.25 AKT1 BMPR1A BRCA1 PIK3CA PTEN RET
11 cardiovascular system MP:0005385 10.17 AKT1 BMPR1A BRCA1 PIK3CA PTEN RET
12 renal/urinary system MP:0005367 10.16 BRCA1 PTEN RET SDHB SMAD4 STK11
13 digestive/alimentary MP:0005381 10.13 BMPR1A BRCA1 BRCA2 PIK3CA PTEN RET
14 reproductive system MP:0005389 10.06 AKT1 BMPR1A BRCA1 BRCA2 PIK3CA PTEN
15 respiratory system MP:0005388 9.97 AKT1 BMPR1A BRCA1 PTEN RET SEC23B
16 hematopoietic system MP:0005397 9.97 AKT1 BMPR1A BRCA1 BRCA2 PTEN RET
17 skeleton MP:0005390 9.96 AKT1 BMPR1A BRCA1 BRCA2 PIK3CA PTEN
18 mortality/aging MP:0010768 9.86 AKT1 BMPR1A BRCA1 BRCA2 PIK3CA PTEN
19 integument MP:0010771 9.32 AKT1 BMPR1A BRCA1 BRCA2 PIK3CA PTEN

Drugs & Therapeutics for Cowden Syndrome

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

(show all 15)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Everolimus Approved Phase 1, Phase 2 159351-69-6 70789204 6442177
2
Sirolimus Approved, Investigational Phase 2 53123-88-9 5284616 6436030
3
Miconazole Approved, Investigational, Vet_approved Phase 2 22916-47-8 4189
4
Clotrimazole Approved, Vet_approved Phase 2 23593-75-1 2812
5 Radiopharmaceuticals Phase 2
6 Fluorodeoxyglucose F18 Phase 2
7 Anti-Bacterial Agents Phase 2
8 Anti-Infective Agents Phase 2
9 Antifungal Agents Phase 2
10 Cola Phase 2
11 Antibiotics, Antitubercular Phase 2
12 Immunosuppressive Agents Phase 2
13 Immunologic Factors Phase 2
14
Trastuzumab Approved, Investigational Phase 1 180288-69-1
15
Dactolisib Investigational Phase 1 915019-65-7 11977753

Interventional clinical trials:

(show all 11)
# 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 A Randomized Double-Blind Controlled Trial of Everolimus in Individuals With PTEN Mutations (RAD001XUS257T) Completed NCT02991807 Phase 1, Phase 2 RAD001;Placebo
4 Sirolimus for Cowden Syndrome With Colon Polyposis Recruiting NCT04094675 Phase 2 Sirolimus
5 A Phase I/II, Multi-center, Open-label Study of BEZ235, Administered Orally on a Continuous Daily Dosing Schedule in Adult Patients With Advanced Solid Malignancies Including Patients With Advanced Breast Cancer Completed NCT00620594 Phase 1 BEZ235
6 Registering the Immune Response to a Flu Vaccination Challenge in PTEN Hamartoma Tumour Syndrome Unknown status NCT03630523
7 Access to Resources for Patients With PTEN Hamartoma Tumor Syndrome Completed NCT03680924
8 Liquid Biopsy Evaluation and Repository Development at Princess Margaret Recruiting NCT03702309
9 Familial Investigations of Childhood Cancer Predisposition Recruiting NCT03050268
10 Natural History Study of Individuals With Autism and Germline Heterozygous PTEN Mutations Recruiting NCT02461446
11 National Cohort of Patients With Cowden's Disease and With a Constitutional Alteration of the PTEN Gene for the Prospective Assessment of the Risk of Cancer. Not yet recruiting NCT05630105

Search NIH Clinical Center for Cowden Syndrome

Genetic Tests for Cowden Syndrome

Genetic tests related to Cowden Syndrome:

# Genetic test Affiliating Genes
1 Cowden Syndrome 28

Anatomical Context for Cowden Syndrome

Organs/tissues related to Cowden Syndrome:

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

Publications for Cowden Syndrome

Articles related to Cowden Syndrome:

(show top 50) (show all 1412)
# Title Authors PMID Year
1
A novel PTEN mutation in a Japanese patient with Cowden disease. 53 62 5
10848731 2000
2
Phenotypic findings of Cowden syndrome and Bannayan-Zonana syndrome in a family associated with a single germline mutation in PTEN. 53 62 5
10353779 1999
3
Inherited mutations in PTEN that are associated with breast cancer, cowden disease, and juvenile polyposis. 53 62 5
9399897 1997
4
KLLN epigenotype-phenotype associations in Cowden syndrome. 62 5
25669429 2015
5
Cognitive characteristics of PTEN hamartoma tumor syndromes. 62 5
23470840 2013
6
Cowden syndrome-related mutations in PTEN associate with enhanced proteasome activity. 62 5
23475934 2013
7
Differential expression of PTEN gene correlates with phenotypic heterogeneity in three cases of patients showing clinical manifestations of PTEN hamartoma tumour syndrome. 62 5
23886400 2013
8
Predicting PTEN mutations: an evaluation of Cowden syndrome and Bannayan-Riley-Ruvalcaba syndrome clinical features. 62 5
21659347 2011
9
A clinical scoring system for selection of patients for PTEN mutation testing is proposed on the basis of a prospective study of 3042 probands. 62 5
21194675 2011
10
Differential expression of PTEN-targeting microRNAs miR-19a and miR-21 in Cowden syndrome. 53 62 46
18460397 2008
11
Mutation analysis of the putative tumor suppressor gene PTEN/MMAC1 in primary breast carcinomas. 62 5
9288766 1997
12
Hypoglycemia due to PI3K/AKT/mTOR signaling pathway defects: two novel cases and review of the literature. 5
33876391 2021
13
Exome sequencing implicates genetic disruption of prenatal neuro-gliogenesis in sporadic congenital hydrocephalus. 5
33077954 2020
14
Non-invasive analysis of tumor mutation profiles and druggable mutations by sequencing of cell free DNA of Chinese metastatic breast cancer patients. 5
30793491 2019
15
Comparative Genomic Profiling of Matched Primary and Metastatic Tumors in Renal Cell Carcinoma. 5
29066084 2018
16
Germline pathogenic variants of 11 breast cancer genes in 7,051 Japanese patients and 11,241 controls. 5
30287823 2018
17
Clinical pitfalls in the diagnosis of segmental overgrowth syndromes: a child with the c.2740G > A mutation in PIK3CA gene. 5
30231930 2018
18
Expanding the spectrum of germline variants in cancer. 5
28975465 2017
19
Molecular diagnosis of PIK3CA-related overgrowth spectrum (PROS) in 162 patients and recommendations for genetic testing. 5
28151489 2017
20
Immune dysregulation in patients with PTEN hamartoma tumor syndrome: Analysis of FOXP3 regulatory T cells. 5
27477328 2017
21
A Pilot Study of Clinical Targeted Next Generation Sequencing for Prostate Cancer: Consequences for Treatment and Genetic Counseling. 5
27324988 2016
22
PIK3CA-associated developmental disorders exhibit distinct classes of mutations with variable expression and tissue distribution. 5
27631024 2016
23
Deletion of Pten in CD45-expressing cells leads to development of T-cell lymphoblastic lymphoma but not myeloid malignancies. 5
26773036 2016
24
Molecular Analysis of Mixed Endometrial Carcinomas Shows Clonality in Most Cases. 5
26492180 2016
25
Detection of a mosaic PIK3CA mutation in dental DNA from a child with megalencephaly capillary malformation syndrome. 5
26351730 2016
26
Megalencephaly syndromes: exome pipeline strategies for detecting low-level mosaic mutations. 5
24497998 2014
27
NOTCH1 activation clinically antagonizes the unfavorable effect of PTEN inactivation in BFM-treated children with precursor T-cell acute lymphoblastic leukemia. 5
23349303 2013
28
The significance of PTEN and AKT aberrations in pediatric T-cell acute lymphoblastic leukemia. 5
22491738 2012
29
Estimate of de novo mutation frequency in probands with PTEN hamartoma tumor syndrome. 5
22595938 2012
30
De novo germline and postzygotic mutations in AKT3, PIK3R2 and PIK3CA cause a spectrum of related megalencephaly syndromes. 5
22729224 2012
31
Clinicopathologic and molecular analysis of a choroidal pigmented schwannoma in the context of a PTEN hamartoma tumor syndrome. 5
22281088 2012
32
Beta catenin and cytokine pathway dysregulation in patients with manifestations of the "PTEN hamartoma tumor syndrome". 5
22520842 2012
33
Negative prognostic impact of PTEN mutation in pediatric T-cell acute lymphoblastic leukemia. 5
19829307 2010
34
The impact of NOTCH1, FBW7 and PTEN mutations on prognosis and downstream signaling in pediatric T-cell acute lymphoblastic leukemia: a report from the Children's Oncology Group. 5
19340001 2009
35
High frequency of PTEN, PI3K, and AKT abnormalities in T-cell acute lymphoblastic leukemia. 5
19458356 2009
36
Mutational loss of PTEN induces resistance to NOTCH1 inhibition in T-cell leukemia. 5
17873882 2007
37
In vivo functional analysis of the counterbalance of hyperactive phosphatidylinositol 3-kinase p110 catalytic oncoproteins by the tumor suppressor PTEN. 5
17942903 2007
38
Functional evaluation of PTEN missense mutations using in vitro phosphoinositide phosphatase assay. 5
10866302 2000
39
The PI3K-Akt-mTOR pathway in initiation and progression of thyroid tumors. 53 62
19897009 2010
40
Allele-specific tumor spectrum in pten knockin mice. 53 62
20194734 2010
41
[Our experience with analysis of the PTEN gene in patients suspected of having Cowden syndrome]. 53 62
20465090 2010
42
Reproductive disturbances in multiple neuroendocrine tumor syndromes. 53 62
19737912 2009
43
Breast magnetic resonance imaging: an overview for nonradiologists. 53 62
20014426 2009
44
PTEN hamartoma tumor syndrome: an overview. 53 62
19668082 2009
45
Analysis of PTEN gene mutations in a Turkish patient with Cowden syndrome. 53 62
19604110 2009
46
Lhermitte-Duclos disease with atypical vascularization--case report and review of the literature. 53 62
19353838 2009
47
PI3K/mTORC1 activation in hamartoma syndromes: therapeutic prospects. 53 62
19177005 2009
48
Can genetic testing guide treatment in breast cancer? 53 62
19027287 2008
49
Contribution of PTEN large rearrangements in Cowden disease: a multiplex amplifiable probe hybridisation (MAPH) screening approach. 53 62
18456716 2008
50
PTEN: a new guardian of the genome. 53 62
18794879 2008

Variations for Cowden Syndrome

ClinVar genetic disease variations for Cowden Syndrome:

5 (show top 50) (show all 461)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 PIK3CA NM_006218.4(PIK3CA):c.3062A>G (p.Tyr1021Cys) SNV Pathogenic
376246 rs121913288 GRCh37: 3:178952007-178952007
GRCh38: 3:179234219-179234219
2 PIK3CA NM_006218.4(PIK3CA):c.1133G>A (p.Cys378Tyr) SNV Pathogenic
39704 rs397514565 GRCh37: 3:178922364-178922364
GRCh38: 3:179204576-179204576
3 PIK3CA NM_006218.4(PIK3CA):c.1093G>A (p.Glu365Lys) SNV Pathogenic
419222 rs1064793732 GRCh37: 3:178922324-178922324
GRCh38: 3:179204536-179204536
4 PIK3CA NM_006218.4(PIK3CA):c.3129G>T (p.Met1043Ile) SNV Pathogenic
217292 rs121913283 GRCh37: 3:178952074-178952074
GRCh38: 3:179234286-179234286
5 PIK3CA NM_006218.4(PIK3CA):c.263G>A (p.Arg88Gln) SNV Pathogenic
376049 rs121913287 GRCh37: 3:178916876-178916876
GRCh38: 3:179199088-179199088
6 PIK3CA NM_006218.4(PIK3CA):c.1030G>A (p.Val344Met) SNV Pathogenic
376498 rs1057519942 GRCh37: 3:178921548-178921548
GRCh38: 3:179203760-179203760
7 PIK3CA NM_006218.4(PIK3CA):c.3139C>T (p.His1047Tyr) SNV Pathogenic
39705 rs121913281 GRCh37: 3:178952084-178952084
GRCh38: 3:179234296-179234296
8 PIK3CA NM_006218.4(PIK3CA):c.3129G>A (p.Met1043Ile) SNV Pathogenic
179173 rs121913283 GRCh37: 3:178952074-178952074
GRCh38: 3:179234286-179234286
9 PTEN NM_000314.8(PTEN):c.767_768del (p.Glu256fs) MICROSAT Pathogenic
224547 rs869312780 GRCh37: 10:89717740-89717741
GRCh38: 10:87957983-87957984
10 PTEN NM_000314.8(PTEN):c.118G>T (p.Glu40Ter) SNV Pathogenic
224545 rs869312778 GRCh37: 10:89653820-89653820
GRCh38: 10:87894063-87894063
11 PIK3CA NM_006218.4(PIK3CA):c.1357G>A (p.Glu453Lys) SNV Pathogenic
376470 rs1057519925 GRCh37: 3:178928079-178928079
GRCh38: 3:179210291-179210291
12 PTEN NM_000314.8(PTEN):c.424del (p.Arg142fs) DEL Pathogenic
224546 rs869312779 GRCh37: 10:89692940-89692940
GRCh38: 10:87933183-87933183
13 SDHD NM_003002.4(SDHD):c.124_127delinsATA (p.Glu42fs) INDEL Pathogenic
964700 rs1865655347 GRCh37: 11:111958652-111958655
GRCh38: 11:112087928-112087931
14 PTEN NM_000314.8(PTEN):c.406T>C (p.Cys136Arg) SNV Pathogenic
183726 rs786201044 GRCh37: 10:89692922-89692922
GRCh38: 10:87933165-87933165
15 SDHB NM_003000.3(SDHB):c.591del (p.Ser198fs) DEL Pathogenic
412462 rs1060503757 GRCh37: 1:17350519-17350519
GRCh38: 1:17024024-17024024
16 PTEN NM_000314.8(PTEN):c.955_958del (p.Leu318_Thr319insTer) MICROSAT Pathogenic
71118 rs146650273 GRCh37: 10:89720799-89720802
GRCh38: 10:87961042-87961045
17 PTEN NM_000314.8(PTEN):c.697C>T (p.Arg233Ter) SNV Pathogenic
7813 rs121909219 GRCh37: 10:89717672-89717672
GRCh38: 10:87957915-87957915
18 PTEN NM_000314.8(PTEN):c.1003C>T (p.Arg335Ter) SNV Pathogenic
Not Provided
7833 rs121909231 GRCh37: 10:89720852-89720852
GRCh38: 10:87961095-87961095
19 PIK3CA NM_006218.4(PIK3CA):c.2176G>A (p.Glu726Lys) SNV Pathogenic
376476 rs867262025 GRCh37: 3:178938934-178938934
GRCh38: 3:179221146-179221146
20 PIK3CA NM_006218.4(PIK3CA):c.2740G>A (p.Gly914Arg) SNV Pathogenic
39703 rs587776932 GRCh37: 3:178947865-178947865
GRCh38: 3:179230077-179230077
21 PTEN NM_000314.8(PTEN):c.389G>A (p.Arg130Gln) SNV Pathogenic
7829 rs121909229 GRCh37: 10:89692905-89692905
GRCh38: 10:87933148-87933148
22 PTEN NM_000314.8(PTEN):c.492+1G>A SNV Likely Pathogenic
1212448 GRCh37: 10:89693009-89693009
GRCh38: 10:87933252-87933252
23 PTEN NM_000314.8(PTEN):c.830C>T (p.Thr277Ile) SNV Likely Pathogenic
184277 rs398123329 GRCh37: 10:89720679-89720679
GRCh38: 10:87960922-87960922
24 PTEN NM_000314.8(PTEN):c.888T>A (p.Cys296Ter) SNV Likely Pathogenic
917617 rs1589665853 GRCh37: 10:89720737-89720737
GRCh38: 10:87960980-87960980
25 PTEN NM_000314.8(PTEN):c.475A>G (p.Arg159Gly) SNV Likely Pathogenic
186094 rs786202688 GRCh37: 10:89692991-89692991
GRCh38: 10:87933234-87933234
26 PTEN NM_000314.8(PTEN):c.827A>T (p.Asn276Ile) SNV Likely Pathogenic
988006 rs1860618095 GRCh37: 10:89720676-89720676
GRCh38: 10:87960919-87960919
27 PTEN NM_000314.8(PTEN):c.37A>G (p.Lys13Glu) SNV Likely Pathogenic
988004 rs1554890348 GRCh37: 10:89624263-89624263
GRCh38: 10:87864506-87864506
28 PTEN NM_000314.8(PTEN):c.1023del (p.Phe341fs) DEL Likely Pathogenic
623215 rs1564568689 GRCh37: 10:89720869-89720869
GRCh38: 10:87961112-87961112
29 PTEN NM_000314.8(PTEN):c.967_968dup (p.Asn323fs) DUP Likely Pathogenic
928675 rs121913291 GRCh37: 10:89720811-89720812
GRCh38: 10:87961054-87961055
30 PTEN NM_000314.8(PTEN):c.423del (p.Arg142fs) DEL Likely Pathogenic
928677 rs1859979785 GRCh37: 10:89692939-89692939
GRCh38: 10:87933182-87933182
31 PTEN NM_000314.8(PTEN):c.430A>T (p.Lys144Ter) SNV Likely Pathogenic
379501 rs1057520622 GRCh37: 10:89692946-89692946
GRCh38: 10:87933189-87933189
32 PTEN NM_000314.8(PTEN):c.344A>G (p.Asp115Gly) SNV Likely Pathogenic
224542 rs869312775 GRCh37: 10:89692860-89692860
GRCh38: 10:87933103-87933103
33 PTEN NM_000314.8(PTEN):c.408T>G (p.Cys136Trp) SNV Likely Pathogenic
224543 rs869312776 GRCh37: 10:89692924-89692924
GRCh38: 10:87933167-87933167
34 PTEN NM_000314.8(PTEN):c.486C>G (p.Asp162Glu) SNV Likely Pathogenic
224544 rs869312777 GRCh37: 10:89693002-89693002
GRCh38: 10:87933245-87933245
35 PIK3CA NM_006218.4(PIK3CA):c.3145G>T (p.Gly1049Cys) SNV Likely Pathogenic
1511013 GRCh37: 3:178952090-178952090
GRCh38: 3:179234302-179234302
36 PIK3CA NM_006218.4(PIK3CA):c.311C>T (p.Pro104Leu) SNV Likely Pathogenic
217291 rs863225060 GRCh37: 3:178916924-178916924
GRCh38: 3:179199136-179199136
37 PIK3CA NM_006218.4(PIK3CA):c.476_478del (p.Pro159del) DEL Uncertain Significance
956473 rs1724364548 GRCh37: 3:178917600-178917602
GRCh38: 3:179199812-179199814
38 PIK3CA NM_006218.4(PIK3CA):c.1448T>C (p.Val483Ala) SNV Uncertain Significance
957162 rs1724680844 GRCh37: 3:178928262-178928262
GRCh38: 3:179210474-179210474
39 PIK3CA NM_006218.4(PIK3CA):c.1139A>G (p.Asn380Ser) SNV Uncertain Significance
958503 rs202013300 GRCh37: 3:178922370-178922370
GRCh38: 3:179204582-179204582
40 PIK3CA NM_006218.4(PIK3CA):c.524C>T (p.Pro175Leu) SNV Uncertain Significance
959302 rs1175225456 GRCh37: 3:178917649-178917649
GRCh38: 3:179199861-179199861
41 PIK3CA NM_006218.4(PIK3CA):c.2558A>G (p.Asn853Ser) SNV Uncertain Significance
962585 rs1725159134 GRCh37: 3:178947122-178947122
GRCh38: 3:179229334-179229334
42 PIK3CA NM_006218.4(PIK3CA):c.2392G>A (p.Glu798Lys) SNV Uncertain Significance
971035 rs1430412182 GRCh37: 3:178942585-178942585
GRCh38: 3:179224797-179224797
43 PIK3CA NM_006218.4(PIK3CA):c.611A>G (p.Lys204Arg) SNV Uncertain Significance
1000854 rs1724404532 GRCh37: 3:178919126-178919126
GRCh38: 3:179201338-179201338
44 PIK3CA NM_006218.4(PIK3CA):c.2776G>A (p.Asp926Asn) SNV Uncertain Significance
1001006 rs773300933 GRCh37: 3:178947901-178947901
GRCh38: 3:179230113-179230113
45 PIK3CA NM_006218.4(PIK3CA):c.955A>G (p.Asn319Asp) SNV Uncertain Significance
1002337 rs1724480940 GRCh37: 3:178921473-178921473
GRCh38: 3:179203685-179203685
46 PIK3CA NM_006218.4(PIK3CA):c.301G>C (p.Val101Leu) SNV Uncertain Significance
1003976 rs1724342655 GRCh37: 3:178916914-178916914
GRCh38: 3:179199126-179199126
47 PIK3CA NM_006218.4(PIK3CA):c.1055A>T (p.Asp352Val) SNV Uncertain Significance
1006152 rs1724484731 GRCh37: 3:178921573-178921573
GRCh38: 3:179203785-179203785
48 PIK3CA NM_006218.4(PIK3CA):c.2785-4A>G SNV Uncertain Significance
1008145 rs1725180228 GRCh37: 3:178948009-178948009
GRCh38: 3:179230221-179230221
49 PIK3CA NM_006218.4(PIK3CA):c.2969C>G (p.Ala990Gly) SNV Uncertain Significance
1011496 rs1725278653 GRCh37: 3:178951914-178951914
GRCh38: 3:179234126-179234126
50 PIK3CA NM_006218.4(PIK3CA):c.2530T>C (p.Cys844Arg) SNV Uncertain Significance
996913 rs756890248 GRCh37: 3:178947094-178947094
GRCh38: 3:179229306-179229306

Expression for Cowden Syndrome

Search GEO for disease gene expression data for Cowden Syndrome.

Pathways for Cowden Syndrome

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

(show all 49)
# Super pathways Score Top Affiliating Genes
1 13.75 AKT1 BMPR1A PIK3CA PTEN RET SMAD4
2
Show member pathways
12.92 AKT1 BRCA1 PTEN STK11 TSC1 TSC2
3
Show member pathways
12.89 TSC2 TSC1 STK11 PTEN PIK3CA BRCA1
4
Show member pathways
12.71 TSC2 TSC1 PTEN PIK3CA AKT1
5
Show member pathways
12.66 TSC2 SMAD4 PTEN PIK3CA BRCA2 AKT1
6 12.65 AKT1 BRCA1 PIK3CA PTEN TSC1 TSC2
7
Show member pathways
12.49 TSC2 TSC1 PTEN PIK3CA AKT1
8
Show member pathways
12.22 TSC2 TSC1 PTEN PIK3CA AKT1
9
Show member pathways
12.18 AKT1 PIK3CA PTEN TSC1 TSC2
10
Show member pathways
12.17 TSC2 TSC1 STK11 AKT1
11
Show member pathways
12.13 SMAD4 PTEN PIK3CA BRCA2 BRCA1 BMPR1A
12
Show member pathways
12.09 TSC2 PTEN PIK3CA AKT1
13
Show member pathways
12.06 AKT1 PIK3CA PTEN TSC1 TSC2
14
Show member pathways
12.04 TSC2 TSC1 STK11 AKT1
15
Show member pathways
12.01 TSC2 TSC1 STK11 PIK3CA AKT1
16
Show member pathways
12 TSC2 TSC1 PTEN AKT1
17 11.97 TSC2 TSC1 STK11 PTEN AKT1
18 11.89 SMAD4 PTEN PIK3CA
19 11.86 PTEN PIK3CA AKT1
20
Show member pathways
11.82 SDHD SDHC SDHB
21 11.82 TSC2 TSC1 PTEN AKT1
22 11.81 TSC2 TSC1 PTEN AKT1
23 11.78 TSC2 TSC1 PIK3CA
24
Show member pathways
11.76 RET PIK3CA AKT1
25
Show member pathways
11.75 PIK3CA BMPR1A AKT1
26 11.68 TSC2 TSC1 PTEN PIK3CA AKT1
27 11.66 PTEN PIK3CA AKT1
29 11.63 BRCA1 SMAD4 TSC2
30 11.62 PTEN PIK3CA BRCA1 AKT1
31
Show member pathways
11.6 PTEN PIK3CA AKT1
32
Show member pathways
11.59 TSC2 TSC1 PTEN AKT1
33 11.57 SMAD4 BRCA1 AKT1
34 11.54 STK11 PIK3CA AKT1
35 11.5 TSC2 TSC1 AKT1
36 11.48 PTEN PIK3CA AKT1
37 11.46 TSC2 TSC1 STK11 SMAD4 PTEN BRCA2
38 11.38 PTEN BRCA1 AKT1
39 11.36 TSC2 TSC1 STK11 SMAD4 PTEN PIK3CA
40 11.27 TSC2 TSC1 STK11 SMAD4
41 11.23 PTEN PIK3CA AKT1
42
Show member pathways
11.19 SMAD4 PIK3CA AKT1
43 11.15 TSC2 PTEN PIK3CA AKT1
44 10.9 AKT1 PIK3CA TSC1 TSC2
45 10.85 SMAD4 AKT1
46 10.78 PIK3CA AKT1
47 10.77 SMAD4 BMPR1A
48
Show member pathways
10.75 SDHD SDHC SDHB
49 10.51 TSC1 AKT1

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 nuclear ubiquitin ligase complex GO:0000152 9.46 BRCA2 BRCA1
2 TSC1-TSC2 complex GO:0033596 9.26 TSC2 TSC1
3 mitochondrial respiratory chain complex II, succinate dehydrogenase complex (ubiquinone) GO:0005749 9.1 SDHD SDHC SDHB

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

(show all 15)
# Name GO ID Score Top Affiliating Genes
1 negative regulation of gene expression GO:0010629 10.15 PIK3CA MIR21 MIR19A BMPR1A AKT1
2 negative regulation of cell population proliferation GO:0008285 10.07 CDKN3 MIR21 PTEN SMAD4 STK11 TSC1
3 cell population proliferation GO:0008283 10.06 TSC1 SMAD4 PTEN BRCA2 AKT1
4 regulation of cell cycle GO:0051726 10.06 TSC2 TSC1 STK11 PTEN CDKN3 BRCA1
5 phosphatidylinositol 3-kinase signaling GO:0014065 10.01 PTEN PIK3CA AKT1
6 tricarboxylic acid cycle GO:0006099 9.99 SDHD SDHC SDHB
7 positive regulation of transforming growth factor beta receptor signaling pathway GO:0030511 9.89 MIR21 SMAD4 STK11
8 negative regulation of macroautophagy GO:0016242 9.85 AKT1 PIK3CA TSC1
9 insulin-like growth factor receptor signaling pathway GO:0048009 9.83 TSC2 PIK3CA AKT1
10 regulation of protein kinase B signaling GO:0051896 9.8 STK11 PTEN MIR21
11 protein kinase B signaling GO:0043491 9.76 TSC2 PTEN PIK3CA AKT1
12 chordate embryonic development GO:0043009 9.7 BRCA2 BRCA1
13 cellular response to decreased oxygen levels GO:0036294 9.65 PTEN AKT1
14 mitochondrial electron transport, succinate to ubiquinone GO:0006121 9.43 SDHD SDHC SDHB
15 anoikis GO:0043276 9.23 TSC2 STK11 PIK3CA AKT1

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

# Name GO ID Score Top Affiliating Genes
1 ubiquinone binding GO:0048039 9.26 SDHD SDHB
2 succinate dehydrogenase (ubiquinone) activity GO:0008177 8.92 SDHD SDHB

Sources for Cowden Syndrome

2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 08-Dec-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
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