MCID: CWD003
MIFTS: 25

Cowden Syndrome 2

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

Aliases & Classifications for Cowden Syndrome 2

MalaCards integrated aliases for Cowden Syndrome 2:

Name: Cowden Syndrome 2 54 71 29 13 69
Cws2 71

Characteristics:

HPO:

32
cowden syndrome 2:
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Cowden Syndrome 2

UniProtKB/Swiss-Prot : 71 Cowden syndrome 2: A form of Cowden syndrome, a hamartomatous polyposis syndrome with age-related penetrance. Cowden syndrome is characterized by hamartomatous lesions affecting derivatives of ectodermal, mesodermal and endodermal layers, macrocephaly, facial trichilemmomas (benign tumors of the hair follicle infundibulum), acral keratoses, papillomatous papules, and elevated risk for development of several types of malignancy, particularly breast carcinoma in women and thyroid carcinoma in both men and women. Colon cancer and renal cell carcinoma have also been reported. Hamartomas can be found in virtually every organ, but most commonly in the skin, gastrointestinal tract, breast and thyroid. CWS2 inheritance is autosomal dominant.

MalaCards based summary : Cowden Syndrome 2, is also known as cws2, and has symptoms including breast carcinoma, endometrial carcinoma and papillary thyroid carcinoma. An important gene associated with Cowden Syndrome 2 is SDHB (Succinate Dehydrogenase Complex Iron Sulfur Subunit B). The drugs Everolimus and Miconazole have been mentioned in the context of this disorder. Affiliated tissues include breast, thyroid and colon.

Description from OMIM: 612359

Related Diseases for Cowden Syndrome 2

Symptoms & Phenotypes for Cowden Syndrome 2

Clinical features from OMIM:

612359

Human phenotypes related to Cowden Syndrome 2:

32
id Description HPO Frequency HPO Source Accession
1 breast carcinoma 32 HP:0003002
2 endometrial carcinoma 32 HP:0012114
3 papillary thyroid carcinoma 32 HP:0002895
4 uterine leiomyoma 32 HP:0000131

Drugs & Therapeutics for Cowden Syndrome 2

Drugs for Cowden Syndrome 2 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 11)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Everolimus Approved Phase 2 159351-69-6 6442177
2
Miconazole Approved, Investigational, Vet_approved Phase 2 22916-47-8 4189
3
Sirolimus Approved, Investigational Phase 2 53123-88-9 5284616 6436030 46835353
4 Anti-Bacterial Agents Phase 2
5 Antibiotics, Antitubercular Phase 2
6 Antifungal Agents Phase 2
7 Anti-Infective Agents Phase 2
8 Fluorodeoxyglucose F18 Phase 2
9 Immunosuppressive Agents Phase 2
10 Radiopharmaceuticals Phase 2
11
Trastuzumab Approved, Investigational Phase 1 180288-69-1 9903

Interventional clinical trials:


id 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 Active, not recruiting NCT00040222

Search NIH Clinical Center for Cowden Syndrome 2

Genetic Tests for Cowden Syndrome 2

Genetic tests related to Cowden Syndrome 2:

id Genetic test Affiliating Genes
1 Cowden Syndrome 2 29

Anatomical Context for Cowden Syndrome 2

MalaCards organs/tissues related to Cowden Syndrome 2:

39
Breast, Thyroid, Colon, Skin

Publications for Cowden Syndrome 2

Variations for Cowden Syndrome 2

Expression for Cowden Syndrome 2

Search GEO for disease gene expression data for Cowden Syndrome 2.

Pathways for Cowden Syndrome 2

GO Terms for Cowden Syndrome 2

Sources for Cowden Syndrome 2

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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