CWS4
MCID: CWD005
MIFTS: 21

Cowden Syndrome 4 (CWS4)

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 4

MalaCards integrated aliases for Cowden Syndrome 4:

Name: Cowden Syndrome 4 56 73 29 13 6 71
Cws4 56 73
Cowden Syndrome, Type 4 39

Classifications:



External Ids:

OMIM 56 615107
OMIM Phenotypic Series 56 PS158350
MeSH 43 D006223
UMLS 71 C3554517

Summaries for Cowden Syndrome 4

UniProtKB/Swiss-Prot : 73 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, breast and colon, and related phenotypes are hamartoma and renal neoplasm

More information from OMIM: 615107 PS158350

Related Diseases for Cowden Syndrome 4

Symptoms & Phenotypes for Cowden Syndrome 4

Human phenotypes related to Cowden Syndrome 4:

31 (showing 5, show less)
# Description HPO Frequency HPO Source Accession
1 hamartoma 31 HP:0010566
2 renal neoplasm 31 HP:0009726
3 abnormality of the gingiva 31 HP:0000168
4 abnormality of buccal mucosa 31 HP:3000019
5 trichilemmoma 31 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 29 KLLN

Anatomical Context for Cowden Syndrome 4

MalaCards organs/tissues related to Cowden Syndrome 4:

40
Skin, Breast, Colon, Thyroid, Kidney, Eye

Publications for Cowden Syndrome 4

Articles related to Cowden Syndrome 4:

(showing 8, show less)
# Title Authors PMID Year
1
Germline epigenetic regulation of KILLIN in Cowden and Cowden-like syndrome. 56 6
21177507 2010
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
6
Germline PTEN mutation Cowden syndrome: an underappreciated form of hereditary kidney cancer. 61
23764071 2013
7
Effects of starvation and water quality on the purging process of farmed Murray cod (Maccullochella peelii peelii). 61
18783236 2008
8
Analysis of PTEN gene mutations in Korean patients with Cowden syndrome and polyposis syndrome. 61
16007494 2005

Variations for Cowden Syndrome 4

ClinVar genetic disease variations for Cowden Syndrome 4:

6 (showing 1, show less) ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 KLLN KLLN, PROMOTER HYPERMETHYLATIONundetermined variant Pathogenic 40164

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
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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