MCID: CWD004
MIFTS: 26

Cowden Syndrome 5

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

Aliases & Classifications for Cowden Syndrome 5

Summaries for Cowden Syndrome 5

UniProtKB/Swiss-Prot : 71 Cowden syndrome 5: 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 5, also known as cws5, is related to pik3ca-related segmental overgrowth, and has symptoms including scoliosis, myopia and seizures. An important gene associated with Cowden Syndrome 5 is PIK3CA (Phosphatidylinositol-4,5-Bisphosphate 3-Kinase Catalytic Subunit Alpha). Affiliated tissues include breast, thyroid and colon.

Description from OMIM: 615108

Related Diseases for Cowden Syndrome 5

Diseases in the Cowden Disease family:

Cowden Syndrome 2 Cowden Syndrome 5
Cowden Syndrome 4 Cowden Syndrome 1
Cowden Syndrome 3 Cowden Syndrome 6
Cowden Syndrome 7

Diseases related to Cowden Syndrome 5 via text searches within MalaCards or GeneCards Suite gene sharing:

id Related Disease Score Top Affiliating Genes
1 pik3ca-related segmental overgrowth 10.9

Symptoms & Phenotypes for Cowden Syndrome 5

Clinical features from OMIM:

615108

Human phenotypes related to Cowden Syndrome 5:

32 (show all 36)
id Description HPO Frequency HPO Source Accession
1 scoliosis 32 HP:0002650
2 myopia 32 HP:0000545
3 seizures 32 HP:0001250
4 micrognathia 32 HP:0000347
5 kyphosis 32 HP:0002808
6 intellectual disability 32 very rare (1%) HP:0001249
7 cataract 32 HP:0000518
8 intellectual disability, mild 32 very rare (1%) HP:0001256
9 pectus excavatum 32 HP:0000767
10 hydrocele testis 32 HP:0000034
11 goiter 32 HP:0000853
12 hyperthyroidism 32 HP:0000836
13 high palate 32 HP:0000218
14 intention tremor 32 HP:0002080
15 hypothyroidism 32 HP:0000821
16 gynecomastia 32 HP:0000771
17 breast carcinoma 32 HP:0003002
18 furrowed tongue 32 HP:0000221
19 meningioma 32 HP:0002858
20 palmoplantar hyperkeratosis 32 HP:0000972
21 thyroid adenoma 32 HP:0000854
22 hearing impairment 32 HP:0000365
23 skin tags 32 HP:0010609
24 progressive macrocephaly 32 HP:0004481
25 colonic diverticula 32 HP:0002253
26 varicocele 32 HP:0012871
27 thyroiditis 32 HP:0100646
28 transitional cell carcinoma of the bladder 32 HP:0006740
29 narrow mouth 32 HP:0000160
30 angioid streaks of the retina 32 HP:0001102
31 abnormality of the cardiovascular system 32 HP:0001626
32 hypoplasia of the maxilla 32 HP:0000327
33 subcutaneous lipoma 32 HP:0001031
34 hamartomatous polyposis 32 HP:0004390
35 ovarian cyst 32 HP:0000138
36 fibroadenoma of the breast 32 HP:0010619

Drugs & Therapeutics for Cowden Syndrome 5

Search Clinical Trials , NIH Clinical Center for Cowden Syndrome 5

Genetic Tests for Cowden Syndrome 5

Genetic tests related to Cowden Syndrome 5:

id Genetic test Affiliating Genes
1 Cowden Syndrome 5 29

Anatomical Context for Cowden Syndrome 5

MalaCards organs/tissues related to Cowden Syndrome 5:

39
Breast, Thyroid, Colon, Skin, Testis, Tongue, Retina

Publications for Cowden Syndrome 5

Variations for Cowden Syndrome 5

UniProtKB/Swiss-Prot genetic disease variations for Cowden Syndrome 5:

71
id Symbol AA change Variation ID SNP ID
1 PIK3CA p.Glu545Ala VAR_026176 rs121913274
2 PIK3CA p.Gly118Asp VAR_069786 rs587777790
3 PIK3CA p.Glu135Lys VAR_069787 rs587777791
4 PIK3CA p.Glu218Lys VAR_069788 rs587777792
5 PIK3CA p.Val356Ile VAR_069789 rs587777793
6 PIK3CA p.Arg382Lys VAR_069790 rs587777794

ClinVar genetic disease variations for Cowden Syndrome 5:

6
id Gene Variation Type Significance SNP ID Assembly Location
1 PIK3CA NM_006218.3(PIK3CA): c.1066G> A (p.Val356Ile) single nucleotide variant Pathogenic rs587777793 GRCh38 Chromosome 3, 179204509: 179204509
2 PIK3CA NM_006218.3(PIK3CA): c.1145G> A (p.Arg382Lys) single nucleotide variant Pathogenic rs587777794 GRCh38 Chromosome 3, 179204588: 179204588
3 PIK3CA NM_006218.3(PIK3CA): c.353G> A (p.Gly118Asp) single nucleotide variant Pathogenic/Likely pathogenic rs587777790 GRCh38 Chromosome 3, 179199690: 179199690
4 PIK3CA NM_006218.3(PIK3CA): c.403G> A (p.Glu135Lys) single nucleotide variant Pathogenic rs587777791 GRCh38 Chromosome 3, 179199740: 179199740
5 PIK3CA NM_006218.3(PIK3CA): c.652G> A (p.Glu218Lys) single nucleotide variant Pathogenic rs587777792 GRCh38 Chromosome 3, 179201379: 179201379
6 PIK3CA NM_006218.3(PIK3CA): c.1895T> G (p.Leu632Ter) single nucleotide variant Pathogenic rs587777796 GRCh38 Chromosome 3, 179219719: 179219719
7 PIK3CA PIK3CA, GLU545ALA AND 2-BP DEL/1-BP INS, NT1658 indel Pathogenic

Expression for Cowden Syndrome 5

Search GEO for disease gene expression data for Cowden Syndrome 5.

Pathways for Cowden Syndrome 5

GO Terms for Cowden Syndrome 5

Sources for Cowden Syndrome 5

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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