MCID: CWD009
MIFTS: 19

Cowden Syndrome 7

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

Aliases & Classifications for Cowden Syndrome 7

MalaCards integrated aliases for Cowden Syndrome 7:

Name: Cowden Syndrome 7 54 71 29
Cws7 71

Characteristics:

OMIM:

54
Inheritance:
autosomal dominant


HPO:

32
cowden syndrome 7:
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Cowden Syndrome 7

UniProtKB/Swiss-Prot : 71 Cowden syndrome 7: 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. CWS7 inheritance is autosomal dominant.

MalaCards based summary : Cowden Syndrome 7, is also known as cws7, and has symptoms including macrocephaly, hemangioma and papillary thyroid carcinoma. An important gene associated with Cowden Syndrome 7 is SEC23B (Sec23 Homolog B, Coat Complex II Component). Affiliated tissues include thyroid, breast and skin.

Description from OMIM: 616858

Related Diseases for Cowden Syndrome 7

Symptoms & Phenotypes for Cowden Syndrome 7

Symptoms via clinical synopsis from OMIM:

54

Head And Neck- Head:
macrocephaly

Cardiovascular- Vascular:
hemangioma

Neoplasia:
breast cancer
endometrial cancer
skin cancer
trichilemmoma
thyroid cancer, papillary
more
Chest- Breasts:
breast papilloma
fibrocystic breast disease: breast fibroadenoma
atypical ductal hyperplasia

Head And Neck- Mouth:
papillomatous papules of the mucosa

Skin Nails & Hair- Hair:
trichilemmoma

Skeletal- Skull:
macrocephaly

Genitourinary- Internal Genitalia Female:
uterine fibroids

Endocrine Features:
hashimoto thyroiditis
thyroid goiter

Skin Nails & Hair- Skin:
skin cancer

Abdomen- Gastroin testinal:
gastrointestinal polyps


Clinical features from OMIM:

616858

Human phenotypes related to Cowden Syndrome 7:

32
id Description HPO Frequency HPO Source Accession
1 macrocephaly 32 HP:0000256
2 hemangioma 32 HP:0001028
3 papillary thyroid carcinoma 32 very rare (1%) HP:0002895
4 trichilemmoma 32 HP:0012844

Drugs & Therapeutics for Cowden Syndrome 7

Search Clinical Trials , NIH Clinical Center for Cowden Syndrome 7

Genetic Tests for Cowden Syndrome 7

Genetic tests related to Cowden Syndrome 7:

id Genetic test Affiliating Genes
1 Cowden Syndrome 7 29

Anatomical Context for Cowden Syndrome 7

MalaCards organs/tissues related to Cowden Syndrome 7:

39
Thyroid, Breast, Skin, Colon

Publications for Cowden Syndrome 7

Variations for Cowden Syndrome 7

UniProtKB/Swiss-Prot genetic disease variations for Cowden Syndrome 7:

71
id Symbol AA change Variation ID SNP ID
1 SEC23B p.Val594Gly VAR_076425 rs752366963

ClinVar genetic disease variations for Cowden Syndrome 7:

6
id Gene Variation Type Significance SNP ID Assembly Location
1 SEC23B NM_032985.4(SEC23B): c.1781T> G (p.Val594Gly) single nucleotide variant Pathogenic rs752366963 GRCh37 Chromosome 20, 18529290: 18529290

Expression for Cowden Syndrome 7

Search GEO for disease gene expression data for Cowden Syndrome 7.

Pathways for Cowden Syndrome 7

GO Terms for Cowden Syndrome 7

Sources for Cowden Syndrome 7

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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