CWS7
MCID: CWD009
MIFTS: 26

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 56 73 29 6
Cws7 56 73

Characteristics:

OMIM:

56
Inheritance:
autosomal dominant


HPO:

31
cowden syndrome 7:
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Cowden Syndrome 7

UniProtKB/Swiss-Prot : 73 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, COPII Coat Complex Component). Affiliated tissues include thyroid, breast 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:

31 (showing 10, show less)
# Description HPO Frequency HPO Source Accession
1 papillary thyroid carcinoma 31 very rare (1%) HP:0002895
2 macrocephaly 31 HP:0000256
3 hashimoto thyroiditis 31 HP:0000872
4 hemangioma 31 HP:0001028
5 breast carcinoma 31 HP:0003002
6 goiter 31 HP:0000853
7 papilloma 31 HP:0012740
8 intestinal polyposis 31 HP:0200008
9 trichilemmoma 31 HP:0012844
10 ductal carcinoma in situ 31 HP:0030075

Symptoms via clinical synopsis from OMIM:

56
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:

40
Thyroid, Breast, 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. 56 6
26522472 2015
2
Genetic/familial high-risk assessment: breast and ovarian, version 1.2014. 6
25190698 2014
3
Clinical genetics evaluation in identifying the etiology of autism spectrum disorders: 2013 guideline revisions. 6
23519317 2013
4
The first Dutch SDHB founder deletion in paraganglioma-pheochromocytoma patients. 6
19368708 2009
5
Germline mutations and variants in the succinate dehydrogenase genes in Cowden and Cowden-like syndromes. 6
18678321 2008

Variations for Cowden Syndrome 7

ClinVar genetic disease variations for Cowden Syndrome 7:

6 (showing 39, show less) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 SEC23B NM_006363.6(SEC23B):c.1507C>T (p.Arg503Ter)SNV Pathogenic 570596 rs1568617456 20:18523042-18523042 20:18542398-18542398
2 SEC23B NM_006363.6(SEC23B):c.816del (p.Ile272fs)deletion Pathogenic 579876 rs1568606490 20:18506557-18506557 20:18525913-18525913
3 SEC23B NC_000020.11:g.(?_18512225)_(18515736_?)deldeletion Pathogenic 642626 20:18492869-18496380 20:18512225-18515736
4 SEC23B NM_006363.6(SEC23B):c.325G>A (p.Glu109Lys)SNV Pathogenic 1222 rs121918221 20:18496339-18496339 20:18515695-18515695
5 SEC23B NM_006363.6(SEC23B):c.40C>T (p.Arg14Trp)SNV Pathogenic 1223 rs121918222 20:18491519-18491519 20:18510875-18510875
6 SEC23B NM_006363.6(SEC23B):c.689+1G>ASNV Pathogenic 95389 rs398124226 20:18505665-18505665 20:18525021-18525021
7 SEC23B NM_006363.6(SEC23B):c.1781T>G (p.Val594Gly)SNV Pathogenic 224507 rs752366963 20:18529290-18529290 20:18548646-18548646
8 SEC23B NM_006363.6(SEC23B):c.1404+5G>ASNV Likely pathogenic 532195 rs1555789463 20:18516391-18516391 20:18535747-18535747
9 SEC23B NM_006363.6(SEC23B):c.2031G>A (p.Met677Ile)SNV Conflicting interpretations of pathogenicity 767505 20:18534917-18534917 20:18554273-18554273
10 SEC23B NM_006363.6(SEC23B):c.74C>A (p.Pro25His)SNV Conflicting interpretations of pathogenicity 167665 rs6045440 20:18491553-18491553 20:18510909-18510909
11 SEC23B NM_006363.6(SEC23B):c.519G>A (p.Val173=)SNV Conflicting interpretations of pathogenicity 287056 rs138314893 20:18505229-18505229 20:18524585-18524585
12 SEC23B NM_006363.6(SEC23B):c.1335G>A (p.Thr445=)SNV Conflicting interpretations of pathogenicity 337795 rs146587686 20:18516317-18516317 20:18535673-18535673
13 SEC23B NM_006363.6(SEC23B):c.1809A>G (p.Ser603=)SNV Conflicting interpretations of pathogenicity 337798 rs139882548 20:18529318-18529318 20:18548674-18548674
14 SEC23B NM_006363.6(SEC23B):c.1198T>C (p.Phe400Leu)SNV Conflicting interpretations of pathogenicity 337792 rs142461689 20:18511412-18511412 20:18530768-18530768
15 SEC23B NM_006363.6(SEC23B):c.569G>A (p.Arg190Gln)SNV Uncertain significance 197785 rs201160833 20:18505279-18505279 20:18524635-18524635
16 SEC23B NM_006363.6(SEC23B):c.434A>G (p.Gln145Arg)SNV Uncertain significance 843025 20:18505144-18505144 20:18524500-18524500
17 SEC23B NM_006363.6(SEC23B):c.1043A>G (p.Asp348Gly)SNV Uncertain significance 847391 20:18508189-18508189 20:18527545-18527545
18 SEC23B NM_006363.6(SEC23B):c.221+3A>GSNV Uncertain significance 847390 20:18491703-18491703 20:18511059-18511059
19 SEC23B NM_006363.6(SEC23B):c.1665+6T>CSNV Uncertain significance 571371 rs371786580 20:18523822-18523822 20:18543178-18543178
20 SEC23B NM_006363.6(SEC23B):c.890C>T (p.Thr297Ile)SNV Uncertain significance 663227 20:18507072-18507072 20:18526428-18526428
21 SEC23B NM_006363.6(SEC23B):c.985G>T (p.Ala329Ser)SNV Uncertain significance 641435 20:18507167-18507167 20:18526523-18526523
22 SEC23B NM_006363.6(SEC23B):c.2129C>T (p.Thr710Met)SNV Uncertain significance 645105 20:18535015-18535015 20:18554371-18554371
23 SEC23B NM_006363.6(SEC23B):c.1233+4C>TSNV Uncertain significance 654136 20:18511451-18511451 20:18530807-18530807
24 SEC23B NM_006363.6(SEC23B):c.1638G>A (p.Arg546=)SNV Likely benign 779567 20:18523789-18523789 20:18543145-18543145
25 SEC23B NM_006363.6(SEC23B):c.1815C>T (p.Tyr605=)SNV Likely benign 737119 20:18529324-18529324 20:18548680-18548680
26 SEC23B NM_006363.6(SEC23B):c.1317G>T (p.Glu439Asp)SNV Likely benign 532197 rs147410912 20:18516299-18516299 20:18535655-18535655
27 SEC23B NM_006363.6(SEC23B):c.1595G>C (p.Gly532Ala)SNV Likely benign 767195 20:18523746-18523746 20:18543102-18543102
28 SEC23B NM_006363.6(SEC23B):c.1649G>A (p.Arg550Gln)SNV Benign/Likely benign 259966 rs111572459 20:18523800-18523800 20:18543156-18543156
29 SEC23B NM_006363.6(SEC23B):c.1512T>C (p.Asn504=)SNV Benign/Likely benign 337797 rs138198461 20:18523663-18523663 20:18543019-18543019
30 SEC23B NM_006363.6(SEC23B):c.689+10C>TSNV Benign/Likely benign 707129 20:18505674-18505674 20:18525030-18525030
31 SEC23B NM_006363.6(SEC23B):c.835-7A>GSNV Benign/Likely benign 707043 20:18507010-18507010 20:18526366-18526366
32 SEC23B NM_006363.6(SEC23B):c.993+19G>ASNV Benign 707385 20:18507194-18507194 20:18526550-18526550
33 SEC23B NM_006363.6(SEC23B):c.1743+168A>GSNV Benign 707069 20:18526845-18526845 20:18546201-18546201
34 SEC23B NM_006363.6(SEC23B):c.1503C>T (p.Ile501=)SNV Benign 95383 rs147036760 20:18523038-18523038 20:18542394-18542394
35 SEC23B NM_006363.6(SEC23B):c.2061G>T (p.Leu687=)SNV Benign 95386 rs7262532 20:18534947-18534947 20:18554303-18554303
36 SEC23B NM_006363.6(SEC23B):c.2298C>T (p.Ala766=)SNV Benign 95387 rs77945587 20:18541378-18541378 20:18560734-18560734
37 SEC23B NM_006363.6(SEC23B):c.490G>T (p.Val164Leu)SNV Benign 95388 rs36023150 20:18505200-18505200 20:18524556-18524556
38 SEC23B NM_006363.6(SEC23B):c.816T>C (p.Ile272=)SNV Benign 259967 rs115177758 20:18506558-18506558 20:18525914-18525914
39 SEC23B NM_006363.6(SEC23B):c.1484G>A (p.Arg495His)SNV Benign 259964 rs141588462 20:18523019-18523019 20:18542375-18542375

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

73 (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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