CWS4
MCID: CWD005
MIFTS: 18

Cowden Syndrome 4 (CWS4)

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

Aliases & Classifications for Cowden Syndrome 4

MalaCards integrated aliases for Cowden Syndrome 4:

Name: Cowden Syndrome 4 58 76 30 13 6 74
Cws4 58 76
Cowden Syndrome, Type 4 41

Classifications:



External Ids:

OMIM 58 615107
MeSH 45 D006223
UMLS 74 C3554517

Summaries for Cowden Syndrome 4

UniProtKB/Swiss-Prot : 76 Cowden syndrome 4: 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.

MalaCards based summary : Cowden Syndrome 4, is also known as cws4. An important gene associated with Cowden Syndrome 4 is KLLN (Killin, P53 Regulated DNA Replication Inhibitor). Affiliated tissues include skin, colon and breast, and related phenotypes are hamartoma and renal neoplasm

Description from OMIM: 615107

Related Diseases for Cowden Syndrome 4

Symptoms & Phenotypes for Cowden Syndrome 4

Human phenotypes related to Cowden Syndrome 4:

33 (showing 5, show less)
# Description HPO Frequency HPO Source Accession
1 hamartoma 33 HP:0010566
2 renal neoplasm 33 HP:0009726
3 abnormality of the gingiva 33 HP:0000168
4 abnormality of buccal mucosa 33 HP:3000019
5 trichilemmoma 33 HP:0012844

Clinical features from OMIM:

615107

Drugs & Therapeutics for Cowden Syndrome 4

Search Clinical Trials , NIH Clinical Center for Cowden Syndrome 4

Genetic Tests for Cowden Syndrome 4

Genetic tests related to Cowden Syndrome 4:

# Genetic test Affiliating Genes
1 Cowden Syndrome 4 30 KLLN

Anatomical Context for Cowden Syndrome 4

MalaCards organs/tissues related to Cowden Syndrome 4:

42
Skin, Colon, Breast, Thyroid, Eye

Publications for Cowden Syndrome 4

Articles related to Cowden Syndrome 4:

(showing 1, show less)
# Title Authors Year
1
Germline epigenetic regulation of KILLIN in Cowden and Cowden-like syndrome. ( 21177507 )
2010

Variations for Cowden Syndrome 4

ClinVar genetic disease variations for Cowden Syndrome 4:

6 (showing 1, show less)
# Gene Variation Type Significance SNP ID Assembly Location
1 KLLN KLLN, PROMOTER HYPERMETHYLATION undetermined variant Pathogenic

Expression for Cowden Syndrome 4

Search GEO for disease gene expression data for Cowden Syndrome 4.

Pathways for Cowden Syndrome 4

GO Terms for Cowden Syndrome 4

Sources for Cowden Syndrome 4

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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