MCID: CWD003
MIFTS: 18

Cowden Syndrome 2

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

Aliases & Classifications for Cowden Syndrome 2

MalaCards integrated aliases for Cowden Syndrome 2:

Name: Cowden Syndrome 2 53 71 28 13 69
Cws2 53 71

Characteristics:

HPO:

31
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 uterine leiomyoma, papillary thyroid carcinoma and breast carcinoma. An important gene associated with Cowden Syndrome 2 is SDHB (Succinate Dehydrogenase Complex Iron Sulfur Subunit B). Affiliated tissues include breast, thyroid and skin.

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:

31 (showing 4, show less)
# Description HPO Frequency HPO Source Accession
1 uterine leiomyoma 31 HP:0000131
2 papillary thyroid carcinoma 31 HP:0002895
3 breast carcinoma 31 HP:0003002
4 endometrial carcinoma 31 HP:0012114

Drugs & Therapeutics for Cowden Syndrome 2

Search Clinical Trials , NIH Clinical Center for Cowden Syndrome 2

Genetic Tests for Cowden Syndrome 2

Genetic tests related to Cowden Syndrome 2:

# Genetic test Affiliating Genes
1 Cowden Syndrome 2 28 SDHB

Anatomical Context for Cowden Syndrome 2

MalaCards organs/tissues related to Cowden Syndrome 2:

38
Breast, Thyroid, Skin, Colon

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
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 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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