MCID: CWD004
MIFTS: 24

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 : 75 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 breast, thyroid and skin, and related phenotypes are pectus excavatum and high palate

Description from OMIM: 615108

Related Diseases for Cowden Syndrome 5

Symptoms & Phenotypes for Cowden Syndrome 5

Clinical features from OMIM:

615108

Human phenotypes related to Cowden Syndrome 5:

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

# Genetic test Affiliating Genes
1 Cowden Syndrome 5 29 PIK3CA

Anatomical Context for Cowden Syndrome 5

MalaCards organs/tissues related to Cowden Syndrome 5:

41
Breast, Thyroid, Skin, Colon, Tongue, Testis

Publications for Cowden Syndrome 5

Variations for Cowden Syndrome 5

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

75
# 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 18)
# 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.353G> A (p.Gly118Asp) single nucleotide variant Pathogenic/Likely pathogenic rs587777790 GRCh38 Chromosome 3, 179199690: 179199690
4 PIK3CA NM_006218.3(PIK3CA): c.353G> A (p.Gly118Asp) single nucleotide variant Pathogenic/Likely pathogenic rs587777790 GRCh37 Chromosome 3, 178917478: 178917478
5 PIK3CA NM_006218.3(PIK3CA): c.403G> A (p.Glu135Lys) single nucleotide variant Pathogenic rs587777791 GRCh38 Chromosome 3, 179199740: 179199740
6 PIK3CA NM_006218.3(PIK3CA): c.403G> A (p.Glu135Lys) single nucleotide variant Pathogenic rs587777791 GRCh37 Chromosome 3, 178917528: 178917528
7 PIK3CA NM_006218.3(PIK3CA): c.652G> A (p.Glu218Lys) single nucleotide variant Pathogenic rs587777792 GRCh38 Chromosome 3, 179201379: 179201379
8 PIK3CA NM_006218.3(PIK3CA): c.652G> A (p.Glu218Lys) single nucleotide variant Pathogenic rs587777792 GRCh37 Chromosome 3, 178919167: 178919167
9 PIK3CA NM_006218.3(PIK3CA): c.1066G> A (p.Val356Ile) single nucleotide variant Pathogenic rs587777793 GRCh38 Chromosome 3, 179204509: 179204509
10 PIK3CA NM_006218.3(PIK3CA): c.1066G> A (p.Val356Ile) single nucleotide variant Pathogenic rs587777793 GRCh37 Chromosome 3, 178922297: 178922297
11 PIK3CA NM_006218.3(PIK3CA): c.1145G> A (p.Arg382Lys) single nucleotide variant Pathogenic rs587777794 GRCh38 Chromosome 3, 179204588: 179204588
12 PIK3CA NM_006218.3(PIK3CA): c.1145G> A (p.Arg382Lys) single nucleotide variant Pathogenic rs587777794 GRCh37 Chromosome 3, 178922376: 178922376
13 PIK3CA NM_006218.3(PIK3CA): c.1658_1659delGTinsC (p.Ser553Thrfs) indel no interpretation for the single variant rs587777795 GRCh38 Chromosome 3, 179218328: 179218329
14 PIK3CA NM_006218.3(PIK3CA): c.1658_1659delGTinsC (p.Ser553Thrfs) indel no interpretation for the single variant rs587777795 GRCh37 Chromosome 3, 178936116: 178936117
15 PIK3CA NM_006218.3(PIK3CA): c.1895T> G (p.Leu632Ter) single nucleotide variant Pathogenic rs587777796 GRCh38 Chromosome 3, 179219719: 179219719
16 PIK3CA NM_006218.3(PIK3CA): c.1895T> G (p.Leu632Ter) single nucleotide variant Pathogenic rs587777796 GRCh37 Chromosome 3, 178937507: 178937507
17 PIK3CA NM_006218.3(PIK3CA): c.311_322delCAGTAGGCAACC (p.Pro104_Asn107del) deletion Likely pathogenic GRCh37 Chromosome 3, 178916924: 178916935
18 PIK3CA NM_006218.3(PIK3CA): c.311_322delCAGTAGGCAACC (p.Pro104_Asn107del) deletion Likely pathogenic GRCh38 Chromosome 3, 179199136: 179199147

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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74 UMLS via Orphanet
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