MCID: CWD004
MIFTS: 23

Cowden Syndrome 5

Categories: Genetic diseases, Rare diseases, Fetal diseases, Skin diseases, Gastrointestinal diseases, Neuronal 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, is also known as cws5, and has symptoms including seizures, pectus excavatum and high palate. 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.

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:

31 (show all 36)
# Description HPO Frequency HPO Source Accession
1 seizures 31 HP:0001250
2 pectus excavatum 31 HP:0000767
3 high palate 31 HP:0000218
4 hypothyroidism 31 HP:0000821
5 intellectual disability 31 very rare (1%) HP:0001249
6 scoliosis 31 HP:0002650
7 kyphosis 31 HP:0002808
8 hearing impairment 31 HP:0000365
9 cataract 31 HP:0000518
10 intellectual disability, mild 31 very rare (1%) HP:0001256
11 abnormality of the cardiovascular system 31 HP:0001626
12 micrognathia 31 HP:0000347
13 myopia 31 HP:0000545
14 thyroiditis 31 HP:0100646
15 intention tremor 31 HP:0002080
16 hyperthyroidism 31 HP:0000836
17 goiter 31 HP:0000853
18 hypoplasia of the maxilla 31 HP:0000327
19 narrow mouth 31 HP:0000160
20 thyroid adenoma 31 HP:0000854
21 subcutaneous lipoma 31 HP:0001031
22 colonic diverticula 31 HP:0002253
23 gynecomastia 31 HP:0000771
24 breast carcinoma 31 HP:0003002
25 meningioma 31 HP:0002858
26 furrowed tongue 31 HP:0000221
27 hamartomatous polyposis 31 HP:0004390
28 varicocele 31 HP:0012871
29 skin tags 31 HP:0010609
30 ovarian cyst 31 HP:0000138
31 palmoplantar hyperkeratosis 31 HP:0000972
32 hydrocele testis 31 HP:0000034
33 transitional cell carcinoma of the bladder 31 HP:0006740
34 progressive macrocephaly 31 HP:0004481
35 angioid streaks of the fundus 31 HP:0001102
36 fibroadenoma of the breast 31 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 28 PIK3CA

Anatomical Context for Cowden Syndrome 5

MalaCards organs/tissues related to Cowden Syndrome 5:

38
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:

71
# 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
# Gene Variation Type Significance SNP ID Assembly Location
1 PIK3CA NM_006218.3(PIK3CA): c.1634A> C (p.Glu545Ala) single nucleotide variant Pathogenic/Likely pathogenic rs121913274 GRCh37 Chromosome 3, 178936092: 178936092
2 PIK3CA NM_006218.3(PIK3CA): c.652G> A (p.Glu218Lys) single nucleotide variant Pathogenic rs587777792 GRCh37 Chromosome 3, 178919167: 178919167
3 PIK3CA NM_006218.3(PIK3CA): c.1066G> A (p.Val356Ile) single nucleotide variant Pathogenic rs587777793 GRCh38 Chromosome 3, 179204509: 179204509
4 PIK3CA NM_006218.3(PIK3CA): c.353G> A (p.Gly118Asp) single nucleotide variant Pathogenic/Likely pathogenic rs587777790 GRCh38 Chromosome 3, 179199690: 179199690
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.1145G> A (p.Arg382Lys) single nucleotide variant Pathogenic rs587777794 GRCh38 Chromosome 3, 179204588: 179204588
7 PIK3CA NM_006218.3(PIK3CA): c.1895T> G (p.Leu632Ter) single nucleotide variant Pathogenic rs587777796 GRCh38 Chromosome 3, 179219719: 179219719

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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7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
27 GO
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30 HMDB
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32 ICD10
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65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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