MCID: CWD005
MIFTS: 19

Cowden Syndrome 4

Categories: Genetic diseases, Neuronal diseases, Skin diseases, Fetal diseases, Rare diseases, Gastrointestinal diseases

Aliases & Classifications for Cowden Syndrome 4

MalaCards integrated aliases for Cowden Syndrome 4:

Name: Cowden Syndrome 4 57 75 29 13 6 73
Cws4 57 75
Cowden Syndrome, Type 4 40

Classifications:



External Ids:

OMIM 57 615107
MeSH 44 D006223
UMLS 73 C3554517

Summaries for Cowden Syndrome 4

UniProtKB/Swiss-Prot : 75 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 thyroid, and related phenotypes are abnormality of the gingiva and renal neoplasm

Description from OMIM: 615107

Related Diseases for Cowden Syndrome 4

Symptoms & Phenotypes for Cowden Syndrome 4

Clinical features from OMIM:

615107

Human phenotypes related to Cowden Syndrome 4:

32
# Description HPO Frequency HPO Source Accession
1 abnormality of the gingiva 32 HP:0000168
2 renal neoplasm 32 HP:0009726
3 hamartoma 32 HP:0010566
4 trichilemmoma 32 HP:0012844
5 abnormality of buccal mucosa 32 HP:3000019

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:

41
Skin, Breast, Thyroid, Colon

Publications for Cowden Syndrome 4

Variations for Cowden Syndrome 4

ClinVar genetic disease variations for Cowden Syndrome 4:

6
# 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 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
Content
Loading form....