MCID: CWD009
MIFTS: 20

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 57 75 29 6
Cws7 57 75

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant


HPO:

32
cowden syndrome 7:
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Cowden Syndrome 7

UniProtKB/Swiss-Prot : 75 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 macrocephaly and hashimoto thyroiditis

Description from OMIM: 616858

Related Diseases for Cowden Syndrome 7

Symptoms & Phenotypes for Cowden Syndrome 7

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
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

Human phenotypes related to Cowden Syndrome 7:

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

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

Variations for Cowden Syndrome 7

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

75
# 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
2 SEC23B NM_006363.5(SEC23B): c.1781T> G (p.Val594Gly) single nucleotide variant Pathogenic rs752366963 GRCh37 Chromosome 20, 18529290: 18529290
3 SEC23B NM_006363.5(SEC23B): c.1649G> A (p.Arg550Gln) single nucleotide variant Benign/Likely benign rs111572459 GRCh37 Chromosome 20, 18523800: 18523800
4 SEC23B NM_006363.5(SEC23B): c.1649G> A (p.Arg550Gln) single nucleotide variant Benign/Likely benign rs111572459 GRCh38 Chromosome 20, 18543156: 18543156
5 SEC23B NM_006363.6(SEC23B): c.66C> T (p.Asn22=) single nucleotide variant Benign rs144542988 GRCh37 Chromosome 20, 18491545: 18491545
6 SEC23B NM_006363.6(SEC23B): c.66C> T (p.Asn22=) single nucleotide variant Benign rs144542988 GRCh38 Chromosome 20, 18510901: 18510901
7 SEC23B NM_006363.6(SEC23B): c.1404+5G> A single nucleotide variant Likely pathogenic GRCh37 Chromosome 20, 18516391: 18516391
8 SEC23B NM_006363.6(SEC23B): c.1404+5G> A single nucleotide variant Likely pathogenic GRCh38 Chromosome 20, 18535747: 18535747
9 SEC23B NM_006363.6(SEC23B): c.1317G> T (p.Glu439Asp) single nucleotide variant Likely benign rs147410912 GRCh37 Chromosome 20, 18516299: 18516299
10 SEC23B NM_006363.6(SEC23B): c.1317G> T (p.Glu439Asp) single nucleotide variant Likely benign rs147410912 GRCh38 Chromosome 20, 18535655: 18535655

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
17 ExPASy
19 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 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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