CWS5
MCID: CWD004
MIFTS: 20

Cowden Syndrome 5 (CWS5)

Categories: Cancer diseases, Cardiovascular diseases, Eye diseases, Fetal diseases, Gastrointestinal diseases, Genetic diseases, Neuronal diseases, Rare diseases, Skin diseases

Aliases & Classifications for Cowden Syndrome 5

Summaries for Cowden Syndrome 5

UniProtKB/Swiss-Prot : 76 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, is also known as cws5. An important gene associated with Cowden Syndrome 5 is PIK3CA (Phosphatidylinositol-4,5-Bisphosphate 3-Kinase Catalytic Subunit Alpha). Affiliated tissues include skin, breast and thyroid, and related phenotypes are intellectual disability and intellectual disability, mild

Description from OMIM: 615108

Related Diseases for Cowden Syndrome 5

Symptoms & Phenotypes for Cowden Syndrome 5

Human phenotypes related to Cowden Syndrome 5:

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

Clinical features from OMIM:

615108

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:

# Genetic test Affiliating Genes
1 Cowden Syndrome 5 30 PIK3CA

Anatomical Context for Cowden Syndrome 5

MalaCards organs/tissues related to Cowden Syndrome 5:

42
Skin, Breast, Thyroid, Colon, Tongue, Testis, Eye

Publications for Cowden Syndrome 5

Articles related to Cowden Syndrome 5:

# Title Authors Year
1
Germline PIK3CA and AKT1 mutations in Cowden and Cowden-like syndromes. ( 23246288 )
2013

Variations for Cowden Syndrome 5

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

76
# 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 (show all 26)
# Gene Variation Type Significance SNP ID Assembly Location
1 PIK3CA NM_006218.3(PIK3CA): c.1634A> C (p.Glu545Ala) single nucleotide variant Pathogenic rs121913274 GRCh37 Chromosome 3, 178936092: 178936092
2 PIK3CA NM_006218.3(PIK3CA): c.1634A> C (p.Glu545Ala) single nucleotide variant Pathogenic rs121913274 GRCh38 Chromosome 3, 179218304: 179218304
3 PIK3CA NM_006218.3(PIK3CA): c.3139C> T (p.His1047Tyr) single nucleotide variant Pathogenic rs121913281 GRCh37 Chromosome 3, 178952084: 178952084
4 PIK3CA NM_006218.3(PIK3CA): c.3139C> T (p.His1047Tyr) single nucleotide variant Pathogenic rs121913281 GRCh38 Chromosome 3, 179234296: 179234296
5 PIK3CA NM_006218.3(PIK3CA): c.1895T> G (p.Leu632Ter) single nucleotide variant Pathogenic rs587777796 GRCh37 Chromosome 3, 178937507: 178937507
6 PIK3CA NM_006218.3(PIK3CA): c.353G> A (p.Gly118Asp) single nucleotide variant Pathogenic/Likely pathogenic rs587777790 GRCh38 Chromosome 3, 179199690: 179199690
7 PIK3CA NM_006218.3(PIK3CA): c.353G> A (p.Gly118Asp) single nucleotide variant Pathogenic/Likely pathogenic rs587777790 GRCh37 Chromosome 3, 178917478: 178917478
8 PIK3CA NM_006218.3(PIK3CA): c.403G> A (p.Glu135Lys) single nucleotide variant Pathogenic rs587777791 GRCh38 Chromosome 3, 179199740: 179199740
9 PIK3CA NM_006218.3(PIK3CA): c.403G> A (p.Glu135Lys) single nucleotide variant Pathogenic rs587777791 GRCh37 Chromosome 3, 178917528: 178917528
10 PIK3CA NM_006218.3(PIK3CA): c.652G> A (p.Glu218Lys) single nucleotide variant Pathogenic rs587777792 GRCh38 Chromosome 3, 179201379: 179201379
11 PIK3CA NM_006218.3(PIK3CA): c.652G> A (p.Glu218Lys) single nucleotide variant Pathogenic rs587777792 GRCh37 Chromosome 3, 178919167: 178919167
12 PIK3CA NM_006218.3(PIK3CA): c.1066G> A (p.Val356Ile) single nucleotide variant Pathogenic rs587777793 GRCh38 Chromosome 3, 179204509: 179204509
13 PIK3CA NM_006218.3(PIK3CA): c.1066G> A (p.Val356Ile) single nucleotide variant Pathogenic rs587777793 GRCh37 Chromosome 3, 178922297: 178922297
14 PIK3CA NM_006218.3(PIK3CA): c.1145G> A (p.Arg382Lys) single nucleotide variant Pathogenic rs587777794 GRCh38 Chromosome 3, 179204588: 179204588
15 PIK3CA NM_006218.3(PIK3CA): c.1145G> A (p.Arg382Lys) single nucleotide variant Pathogenic rs587777794 GRCh37 Chromosome 3, 178922376: 178922376
16 PIK3CA NM_006218.3(PIK3CA): c.1658_1659delGTinsC (p.Ser553Thrfs) indel no interpretation for the single variant rs587777795 GRCh38 Chromosome 3, 179218328: 179218329
17 PIK3CA NM_006218.3(PIK3CA): c.1658_1659delGTinsC (p.Ser553Thrfs) indel no interpretation for the single variant rs587777795 GRCh37 Chromosome 3, 178936116: 178936117
18 PIK3CA NM_006218.3(PIK3CA): c.1895T> G (p.Leu632Ter) single nucleotide variant Pathogenic rs587777796 GRCh38 Chromosome 3, 179219719: 179219719
19 PIK3CA NM_006218.2(PIK3CA): c.1030G> A (p.Val344Met) single nucleotide variant Pathogenic/Likely pathogenic rs1057519942 GRCh37 Chromosome 3, 178921548: 178921548
20 PIK3CA NM_006218.2(PIK3CA): c.1030G> A (p.Val344Met) single nucleotide variant Pathogenic/Likely pathogenic rs1057519942 GRCh38 Chromosome 3, 179203760: 179203760
21 PIK3CA NM_006218.3(PIK3CA): c.1130C> G (p.Pro377Arg) single nucleotide variant Uncertain significance rs113613074 GRCh37 Chromosome 3, 178922361: 178922361
22 PIK3CA NM_006218.3(PIK3CA): c.1130C> G (p.Pro377Arg) single nucleotide variant Uncertain significance rs113613074 GRCh38 Chromosome 3, 179204573: 179204573
23 PIK3CA NM_006218.3(PIK3CA): c.311_322delCAGTAGGCAACC (p.Pro104_Asn107del) deletion Likely pathogenic rs1553820381 GRCh37 Chromosome 3, 178916924: 178916935
24 PIK3CA NM_006218.3(PIK3CA): c.311_322delCAGTAGGCAACC (p.Pro104_Asn107del) deletion Likely pathogenic rs1553820381 GRCh38 Chromosome 3, 179199136: 179199147
25 PIK3CA NM_006218.3(PIK3CA): c.436G> A (p.Val146Ile) single nucleotide variant Uncertain significance rs755969956 GRCh38 Chromosome 3, 179199773: 179199773
26 PIK3CA NM_006218.3(PIK3CA): c.436G> A (p.Val146Ile) single nucleotide variant Uncertain significance rs755969956 GRCh37 Chromosome 3, 178917561: 178917561

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

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