CWS7
MCID: CWD009
MIFTS: 22

Cowden Syndrome 7 (CWS7)

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

Aliases & Classifications for Cowden Syndrome 7

MalaCards integrated aliases for Cowden Syndrome 7:

Name: Cowden Syndrome 7 58 76 30 6
Cws7 58 76

Characteristics:

OMIM:

58
Inheritance:
autosomal dominant


HPO:

33
cowden syndrome 7:
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Cowden Syndrome 7

UniProtKB/Swiss-Prot : 76 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 thyroid, breast and skin, and related phenotypes are papillary thyroid carcinoma and macrocephaly

Description from OMIM: 616858

Related Diseases for Cowden Syndrome 7

Symptoms & Phenotypes for Cowden Syndrome 7

Human phenotypes related to Cowden Syndrome 7:

33 (showing 10, show less)
# Description HPO Frequency HPO Source Accession
1 papillary thyroid carcinoma 33 very rare (1%) HP:0002895
2 macrocephaly 33 HP:0000256
3 hashimoto thyroiditis 33 HP:0000872
4 goiter 33 HP:0000853
5 breast carcinoma 33 HP:0003002
6 intestinal polyposis 33 HP:0200008
7 papilloma 33 HP:0012740
8 hemangioma 33 HP:0001028
9 trichilemmoma 33 HP:0012844
10 ductal carcinoma in situ 33 HP:0030075

Symptoms via clinical synopsis from OMIM:

58
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 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 30 SEC23B

Anatomical Context for Cowden Syndrome 7

MalaCards organs/tissues related to Cowden Syndrome 7:

42
Thyroid, Breast, Skin, Colon, Eye

Publications for Cowden Syndrome 7

Articles related to Cowden Syndrome 7:

(showing 1, show less)
# Title Authors Year
1
Germline Heterozygous Variants in SEC23B Are Associated with Cowden Syndrome and Enriched in Apparently Sporadic Thyroid Cancer. ( 26522472 )
2015

Variations for Cowden Syndrome 7

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

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

ClinVar genetic disease variations for Cowden Syndrome 7:

6 (showing 26, show less)
# Gene Variation Type Significance SNP ID Assembly Location
1 SEC23B NM_006363.6(SEC23B): c.325G> A (p.Glu109Lys) single nucleotide variant Pathogenic rs121918221 GRCh37 Chromosome 20, 18496339: 18496339
2 SEC23B NM_006363.6(SEC23B): c.325G> A (p.Glu109Lys) single nucleotide variant Pathogenic rs121918221 GRCh38 Chromosome 20, 18515695: 18515695
3 SEC23B NM_006363.6(SEC23B): c.40C> T (p.Arg14Trp) single nucleotide variant Pathogenic rs121918222 GRCh37 Chromosome 20, 18491519: 18491519
4 SEC23B NM_006363.6(SEC23B): c.40C> T (p.Arg14Trp) single nucleotide variant Pathogenic rs121918222 GRCh38 Chromosome 20, 18510875: 18510875
5 SEC23B NM_006363.6(SEC23B): c.2061G> T (p.Leu687=) single nucleotide variant Benign/Likely benign rs7262532 GRCh37 Chromosome 20, 18534947: 18534947
6 SEC23B NM_006363.6(SEC23B): c.2061G> T (p.Leu687=) single nucleotide variant Benign/Likely benign rs7262532 GRCh38 Chromosome 20, 18554303: 18554303
7 SEC23B NM_006363.6(SEC23B): c.490G> T (p.Val164Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs36023150 GRCh37 Chromosome 20, 18505200: 18505200
8 SEC23B NM_006363.6(SEC23B): c.490G> T (p.Val164Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs36023150 GRCh38 Chromosome 20, 18524556: 18524556
9 SEC23B NM_006363.6(SEC23B): c.689+1G> A single nucleotide variant Pathogenic rs398124226 GRCh37 Chromosome 20, 18505665: 18505665
10 SEC23B NM_006363.6(SEC23B): c.689+1G> A single nucleotide variant Pathogenic rs398124226 GRCh38 Chromosome 20, 18525021: 18525021
11 SEC23B NM_006363.6(SEC23B): c.1781T> G (p.Val594Gly) single nucleotide variant Pathogenic rs752366963 GRCh38 Chromosome 20, 18548646: 18548646
12 SEC23B NM_006363.6(SEC23B): c.1781T> G (p.Val594Gly) single nucleotide variant Pathogenic rs752366963 GRCh37 Chromosome 20, 18529290: 18529290
13 SEC23B NM_006363.6(SEC23B): c.1649G> A (p.Arg550Gln) single nucleotide variant Benign/Likely benign rs111572459 GRCh37 Chromosome 20, 18523800: 18523800
14 SEC23B NM_006363.6(SEC23B): c.1649G> A (p.Arg550Gln) single nucleotide variant Benign/Likely benign rs111572459 GRCh38 Chromosome 20, 18543156: 18543156
15 SEC23B NM_006363.6(SEC23B): c.66C> T (p.Asn22=) single nucleotide variant Benign rs144542988 GRCh37 Chromosome 20, 18491545: 18491545
16 SEC23B NM_006363.6(SEC23B): c.66C> T (p.Asn22=) single nucleotide variant Benign rs144542988 GRCh38 Chromosome 20, 18510901: 18510901
17 SEC23B NM_006363.6(SEC23B): c.1404+5G> A single nucleotide variant Likely pathogenic rs1555789463 GRCh37 Chromosome 20, 18516391: 18516391
18 SEC23B NM_006363.6(SEC23B): c.1404+5G> A single nucleotide variant Likely pathogenic rs1555789463 GRCh38 Chromosome 20, 18535747: 18535747
19 SEC23B NM_006363.6(SEC23B): c.1317G> T (p.Glu439Asp) single nucleotide variant Likely benign rs147410912 GRCh37 Chromosome 20, 18516299: 18516299
20 SEC23B NM_006363.6(SEC23B): c.1317G> T (p.Glu439Asp) single nucleotide variant Likely benign rs147410912 GRCh38 Chromosome 20, 18535655: 18535655
21 SEC23B NM_006363.6(SEC23B): c.1507C> T (p.Arg503Ter) single nucleotide variant Pathogenic GRCh37 Chromosome 20, 18523042: 18523042
22 SEC23B NM_006363.6(SEC23B): c.1507C> T (p.Arg503Ter) single nucleotide variant Pathogenic GRCh38 Chromosome 20, 18542398: 18542398
23 SEC23B NM_006363.6(SEC23B): c.816del (p.Ile272Metfs) deletion Pathogenic GRCh37 Chromosome 20, 18506558: 18506558
24 SEC23B NM_006363.6(SEC23B): c.816del (p.Ile272Metfs) deletion Pathogenic GRCh38 Chromosome 20, 18525914: 18525914
25 SEC23B NM_006363.6(SEC23B): c.1665+6T> C single nucleotide variant Uncertain significance GRCh37 Chromosome 20, 18523822: 18523822
26 SEC23B NM_006363.6(SEC23B): c.1665+6T> C single nucleotide variant Uncertain significance GRCh38 Chromosome 20, 18543178: 18543178

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
11 DGIdb
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20 FMA
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70 SNOMED-CT via HPO
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75 UMLS via Orphanet
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