MCID: CWD009
MIFTS: 20

Cowden Syndrome 7

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

Aliases & Classifications for Cowden Syndrome 7

MalaCards integrated aliases for Cowden Syndrome 7:

Name: Cowden Syndrome 7 53 71 28
Cws7 53 71

Characteristics:

OMIM:

53
Inheritance:
autosomal dominant


HPO:

31
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, hashimoto thyroiditis and breast carcinoma. An important gene associated with Cowden Syndrome 7 is SEC23B (Sec23 Homolog B, Coat Complex II Component). Affiliated tissues include breast, thyroid and skin.

Description from OMIM: 616858

Related Diseases for Cowden Syndrome 7

Symptoms & Phenotypes for Cowden Syndrome 7

Symptoms via clinical synopsis from OMIM:

53
Head And Neck Head:
macrocephaly

Endocrine Features:
hashimoto thyroiditis
thyroid goiter

Skin Nails Hair Hair:
trichilemmoma

Genitourinary Internal Genitalia Female:
uterine fibroids

Skin Nails Hair Skin:
skin cancer

Chest Breasts:
fibrocystic breast disease: breast fibroadenoma
breast papilloma
atypical ductal hyperplasia

Skeletal Skull:
macrocephaly

Cardiovascular Vascular:
hemangioma

Neoplasia:
trichilemmoma
breast cancer
endometrial cancer
skin cancer
thyroid cancer, papillary
more
Abdomen Gastroin testinal:
gastrointestinal polyps

Head And Neck Mouth:
papillomatous papules of the mucosa


Clinical features from OMIM:

616858

Human phenotypes related to Cowden Syndrome 7:

31 (show all 8)
# Description HPO Frequency HPO Source Accession
1 macrocephaly 31 HP:0000256
2 hashimoto thyroiditis 31 HP:0000872
3 breast carcinoma 31 HP:0003002
4 intestinal polyposis 31 HP:0200008
5 hemangioma 31 HP:0001028
6 papillary thyroid carcinoma 31 very rare (1%) HP:0002895
7 trichilemmoma 31 HP:0012844
8 ductal carcinoma in situ 31 HP:0030075

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:

# Genetic test Affiliating Genes
1 Cowden Syndrome 7 28 SEC23B

Anatomical Context for Cowden Syndrome 7

MalaCards organs/tissues related to Cowden Syndrome 7:

38
Breast, Thyroid, Skin, Colon

Publications for Cowden Syndrome 7

Variations for Cowden Syndrome 7

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

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

ClinVar genetic disease variations for Cowden Syndrome 7:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 SEC23B NM_006363.5(SEC23B): c.1781T> G (p.Val594Gly) single nucleotide variant Pathogenic rs752366963 GRCh38 Chromosome 20, 18548646: 18548646

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
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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