CWS7
MCID: CWD009
MIFTS: 25

Cowden Syndrome 7 (CWS7)

Categories: Cancer diseases, Cardiovascular diseases, Eye diseases, Fetal diseases, Gastrointestinal diseases, Genetic diseases, Neuronal diseases, Rare diseases, Reproductive diseases, Skin diseases

Aliases & Classifications for Cowden Syndrome 7

MalaCards integrated aliases for Cowden Syndrome 7:

Name: Cowden Syndrome 7 57 74 29 6
Cws7 57 74

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant


HPO:

32
cowden syndrome 7:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

MeSH 44 D006223

Summaries for Cowden Syndrome 7

UniProtKB/Swiss-Prot : 74 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. An important gene associated with Cowden Syndrome 7 is SEC23B (SEC23 Homolog B, Coat Complex II Component). Affiliated tissues include breast, thyroid and skin, and related phenotypes are papillary thyroid carcinoma and macrocephaly

More information from OMIM: 616858 PS158350

Related Diseases for Cowden Syndrome 7

Symptoms & Phenotypes for Cowden Syndrome 7

Human phenotypes related to Cowden Syndrome 7:

32 (showing 10, show less)
# Description HPO Frequency HPO Source Accession
1 papillary thyroid carcinoma 32 very rare (1%) HP:0002895
2 macrocephaly 32 HP:0000256
3 hashimoto thyroiditis 32 HP:0000872
4 goiter 32 HP:0000853
5 hemangioma 32 HP:0001028
6 breast carcinoma 32 HP:0003002
7 intestinal polyposis 32 HP:0200008
8 papilloma 32 HP:0012740
9 trichilemmoma 32 HP:0012844
10 ductal carcinoma in situ 32 HP:0030075

Symptoms via clinical synopsis from OMIM:

57
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
ductal carcinoma in situ
breast cancer
endometrial cancer
skin cancer
more
Abdomen Gastrointestinal:
gastrointestinal polyps

Head And Neck Mouth:
papillomatous papules of the mucosa

Clinical features from OMIM:

616858

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 29 SEC23B

Anatomical Context for Cowden Syndrome 7

MalaCards organs/tissues related to Cowden Syndrome 7:

41
Breast, Thyroid, Skin, Colon

Publications for Cowden Syndrome 7

Articles related to Cowden Syndrome 7:

(showing 5, show less)
# Title Authors PMID Year
1
Germline Heterozygous Variants in SEC23B Are Associated with Cowden Syndrome and Enriched in Apparently Sporadic Thyroid Cancer. 8 71
26522472 2015
2
Genetic/familial high-risk assessment: breast and ovarian, version 1.2014. 71
25190698 2014
3
Clinical genetics evaluation in identifying the etiology of autism spectrum disorders: 2013 guideline revisions. 71
23519317 2013
4
The first Dutch SDHB founder deletion in paraganglioma-pheochromocytoma patients. 71
19368708 2009
5
Germline mutations and variants in the succinate dehydrogenase genes in Cowden and Cowden-like syndromes. 71
18678321 2008

Variations for Cowden Syndrome 7

ClinVar genetic disease variations for Cowden Syndrome 7:

6 (showing 18, show less)
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 SEC23B NM_006363.6(SEC23B): c.325G> A (p.Glu109Lys) single nucleotide variant Pathogenic rs121918221 20:18496339-18496339 20:18515695-18515695
2 SEC23B NM_006363.6(SEC23B): c.40C> T (p.Arg14Trp) single nucleotide variant Pathogenic rs121918222 20:18491519-18491519 20:18510875-18510875
3 SEC23B NM_006363.6(SEC23B): c.689+1G> A single nucleotide variant Pathogenic rs398124226 20:18505665-18505665 20:18525021-18525021
4 SEC23B NM_006363.6(SEC23B): c.1781T> G (p.Val594Gly) single nucleotide variant Pathogenic rs752366963 20:18529290-18529290 20:18548646-18548646
5 SEC23B NM_006363.6(SEC23B): c.1507C> T (p.Arg503Ter) single nucleotide variant Pathogenic 20:18523042-18523042 20:18542398-18542398
6 SEC23B NM_006363.6(SEC23B): c.816del (p.Ile272fs) deletion Pathogenic 20:18506558-18506558 20:18525914-18525914
7 SEC23B NC_000020.10: g.(?_18492869)_(18496380_?)del deletion Pathogenic 20:18492869-18496380 20:18512225-18515736
8 SEC23B NM_006363.6(SEC23B): c.1404+5G> A single nucleotide variant Likely pathogenic rs1555789463 20:18516391-18516391 20:18535747-18535747
9 SEC23B NM_006363.6(SEC23B): c.1665+6T> C single nucleotide variant Uncertain significance 20:18523822-18523822 20:18543178-18543178
10 SEC23B NM_006363.6(SEC23B): c.890C> T (p.Thr297Ile) single nucleotide variant Uncertain significance 20:18507072-18507072 20:18526428-18526428
11 SEC23B NM_006363.6(SEC23B): c.985G> T (p.Ala329Ser) single nucleotide variant Uncertain significance 20:18507167-18507167 20:18526523-18526523
12 SEC23B NM_006363.6(SEC23B): c.2129C> T (p.Thr710Met) single nucleotide variant Uncertain significance 20:18535015-18535015 20:18554371-18554371
13 SEC23B NM_006363.6(SEC23B): c.1233+4C> T single nucleotide variant Uncertain significance 20:18511451-18511451 20:18530807-18530807
14 SEC23B NM_006363.6(SEC23B): c.1317G> T (p.Glu439Asp) single nucleotide variant Likely benign rs147410912 20:18516299-18516299 20:18535655-18535655
15 SEC23B NM_006363.6(SEC23B): c.1649G> A (p.Arg550Gln) single nucleotide variant Benign/Likely benign rs111572459 20:18523800-18523800 20:18543156-18543156
16 SEC23B NM_006363.6(SEC23B): c.2061G> T (p.Leu687=) single nucleotide variant Benign/Likely benign rs7262532 20:18534947-18534947 20:18554303-18554303
17 SEC23B NM_006363.6(SEC23B): c.490G> T (p.Val164Leu) single nucleotide variant Benign/Likely benign rs36023150 20:18505200-18505200 20:18524556-18524556
18 SEC23B NM_006363.6(SEC23B): c.66C> T (p.Asn22=) single nucleotide variant Benign rs144542988 20:18491545-18491545 20:18510901-18510901

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

74 (showing 1, show less)
# Symbol AA change Variation ID SNP ID
1 SEC23B p.Val594Gly VAR_076425 rs752366963

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

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10 dbSNP
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69 SNOMED-CT via HPO
70 TGDB
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73 UMLS via Orphanet
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