MCID: CWD005
MIFTS: 23

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 54 71 29 13 69
Cws4 71

Classifications:



Summaries for Cowden Syndrome 4

UniProtKB/Swiss-Prot : 71 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, and has symptoms including trichilemmoma, hamartoma and renal neoplasm. An important gene associated with Cowden Syndrome 4 is KLLN (Killin, P53-Regulated DNA Replication Inhibitor). The drugs Everolimus and Miconazole have been mentioned in the context of this disorder. Affiliated tissues include colon, breast and skin.

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

Drugs & Therapeutics for Cowden Syndrome 4

Drugs for Cowden Syndrome 4 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 10)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Everolimus Approved Phase 2 159351-69-6 6442177
2
Miconazole Approved, Investigational, Vet_approved Phase 2 22916-47-8 4189
3
Sirolimus Approved, Investigational Phase 2 53123-88-9 5284616 6436030 46835353
4 Anti-Bacterial Agents Phase 2
5 Antibiotics, Antitubercular Phase 2
6 Antifungal Agents Phase 2
7 Anti-Infective Agents Phase 2
8 Fluorodeoxyglucose F18 Phase 2
9 Immunosuppressive Agents Phase 2
10 Radiopharmaceuticals Phase 2

Interventional clinical trials:


id Name Status NCT ID Phase Drugs
1 Sirolimus to Treat Cowden Syndrome and Other PTEN Hamartomatous Tumor Syndromes Completed NCT00971789 Phase 2 sirolimus
2 French Digestive Polyposis Cohorte Family Adenomatous Polyposis With APC and MYH Gene Mutations , Cowden's Disease With PTEN Gene Mutation, Peutz Jeghers Disease With STK 11 Gene Mutation ,juvénil Polyposis With SMAD 4 Gene Mutation , Serrated and Hyperpl Recruiting NCT01987518

Search NIH Clinical Center for Cowden Syndrome 4

Genetic Tests for Cowden Syndrome 4

Genetic tests related to Cowden Syndrome 4:

id Genetic test Affiliating Genes
1 Cowden Syndrome 4 29

Anatomical Context for Cowden Syndrome 4

MalaCards organs/tissues related to Cowden Syndrome 4:

39
Colon, Breast, Skin, Thyroid

Publications for Cowden Syndrome 4

Variations for Cowden Syndrome 4

ClinVar genetic disease variations for Cowden Syndrome 4:

6
id 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
16 ExPASy
18 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 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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