MCID: CWD007
MIFTS: 26

Cowden Syndrome 3

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

Aliases & Classifications for Cowden Syndrome 3

MalaCards integrated aliases for Cowden Syndrome 3:

Name: Cowden Syndrome 3 53 71 28 13 69
Cws3 53 71

Classifications:



External Ids:

OMIM 53 615106
MeSH 41 D006223
UMLS 69 C3554516

Summaries for Cowden Syndrome 3

UniProtKB/Swiss-Prot : 71 Cowden syndrome 3: 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 3, also known as cws3, is related to neural crest tumor and paragangliomas 1, and has symptoms including uterine leiomyoma, abnormality of mitochondrial metabolism and renal cell carcinoma. An important gene associated with Cowden Syndrome 3 is SDHD (Succinate Dehydrogenase Complex Subunit D). Affiliated tissues include thyroid, skin and breast.

Description from OMIM: 615106

Related Diseases for Cowden Syndrome 3

Graphical network of the top 20 diseases related to Cowden Syndrome 3:



Diseases related to Cowden Syndrome 3

Symptoms & Phenotypes for Cowden Syndrome 3

Clinical features from OMIM:

615106

Human phenotypes related to Cowden Syndrome 3:

31
# Description HPO Frequency HPO Source Accession
1 uterine leiomyoma 31 HP:0000131
2 abnormality of mitochondrial metabolism 31 HP:0003287
3 renal cell carcinoma 31 HP:0005584
4 neoplasm of the thyroid gland 31 HP:0100031

Drugs & Therapeutics for Cowden Syndrome 3

Search Clinical Trials , NIH Clinical Center for Cowden Syndrome 3

Genetic Tests for Cowden Syndrome 3

Genetic tests related to Cowden Syndrome 3:

# Genetic test Affiliating Genes
1 Cowden Syndrome 3 28 SDHD

Anatomical Context for Cowden Syndrome 3

MalaCards organs/tissues related to Cowden Syndrome 3:

38
Thyroid, Skin, Breast, Colon

Publications for Cowden Syndrome 3

Variations for Cowden Syndrome 3

ClinVar genetic disease variations for Cowden Syndrome 3:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 SDHD NM_003002.3(SDHD): c.433C> A (p.His145Asn) single nucleotide variant Pathogenic rs121908984 GRCh37 Chromosome 11, 111965647: 111965647

Expression for Cowden Syndrome 3

Search GEO for disease gene expression data for Cowden Syndrome 3.

Pathways for Cowden Syndrome 3

GO Terms for Cowden Syndrome 3

Cellular components related to Cowden Syndrome 3 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 mitochondrial inner membrane GO:0005743 9.16 ENSG00000255292 SDHD
2 mitochondrial envelope GO:0005740 8.96 ENSG00000255292 SDHD
3 mitochondrial respiratory chain complex II, succinate dehydrogenase complex (ubiquinone) GO:0005749 8.62 ENSG00000255292 SDHD

Biological processes related to Cowden Syndrome 3 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 oxidation-reduction process GO:0055114 9.16 ENSG00000255292 SDHD
2 tricarboxylic acid cycle GO:0006099 8.96 ENSG00000255292 SDHD
3 mitochondrial electron transport, succinate to ubiquinone GO:0006121 8.62 ENSG00000255292 SDHD

Molecular functions related to Cowden Syndrome 3 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 heme binding GO:0020037 9.26 ENSG00000255292 SDHD
2 electron transfer activity GO:0009055 9.16 ENSG00000255292 SDHD
3 ubiquinone binding GO:0048039 8.96 ENSG00000255292 SDHD
4 succinate dehydrogenase (ubiquinone) activity GO:0008177 8.62 ENSG00000255292 SDHD

Sources for Cowden Syndrome 3

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
Content
Loading form....