MCID: CWD008
MIFTS: 24

Cowden Syndrome 6

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

Aliases & Classifications for Cowden Syndrome 6

Summaries for Cowden Syndrome 6

UniProtKB/Swiss-Prot : 75 Cowden syndrome 6: 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 6, is also known as cws6. An important gene associated with Cowden Syndrome 6 is AKT1 (AKT Serine/Threonine Kinase 1). Affiliated tissues include thyroid, breast and colon, and related phenotypes are hydrocele testis and ovarian cyst

Description from OMIM: 615109

Related Diseases for Cowden Syndrome 6

Symptoms & Phenotypes for Cowden Syndrome 6

Clinical features from OMIM:

615109

Human phenotypes related to Cowden Syndrome 6:

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

Drugs & Therapeutics for Cowden Syndrome 6

Search Clinical Trials , NIH Clinical Center for Cowden Syndrome 6

Genetic Tests for Cowden Syndrome 6

Genetic tests related to Cowden Syndrome 6:

# Genetic test Affiliating Genes
1 Cowden Syndrome 6 29 AKT1

Anatomical Context for Cowden Syndrome 6

MalaCards organs/tissues related to Cowden Syndrome 6:

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

Publications for Cowden Syndrome 6

Variations for Cowden Syndrome 6

UniProtKB/Swiss-Prot genetic disease variations for Cowden Syndrome 6:

75
# Symbol AA change Variation ID SNP ID
1 AKT1 p.Arg25Cys VAR_069791 rs397514644
2 AKT1 p.Thr435Pro VAR_069792 rs397514645

ClinVar genetic disease variations for Cowden Syndrome 6:

6
(show top 50) (show all 178)
# Gene Variation Type Significance SNP ID Assembly Location
1 AKT1 NM_001014431.1(AKT1): c.73C> T (p.Arg25Cys) single nucleotide variant Pathogenic rs397514644 GRCh37 Chromosome 14, 105246527: 105246527
2 AKT1 NM_001014431.1(AKT1): c.73C> T (p.Arg25Cys) single nucleotide variant Pathogenic rs397514644 GRCh38 Chromosome 14, 104780190: 104780190
3 AKT1 NM_001014431.1(AKT1): c.1303A> C (p.Thr435Pro) single nucleotide variant Pathogenic rs397514645 GRCh37 Chromosome 14, 105237142: 105237142
4 AKT1 NM_001014431.1(AKT1): c.1303A> C (p.Thr435Pro) single nucleotide variant Pathogenic rs397514645 GRCh38 Chromosome 14, 104770805: 104770805
5 AKT1 NM_005163.2(AKT1): c.958-7C> T single nucleotide variant Benign rs369048965 GRCh38 Chromosome 14, 104773099: 104773099
6 AKT1 NM_005163.2(AKT1): c.958-7C> T single nucleotide variant Benign rs369048965 GRCh37 Chromosome 14, 105239436: 105239436
7 AKT1 NM_005163.2(AKT1): c.1394G> A (p.Arg465His) single nucleotide variant Uncertain significance rs113547523 GRCh37 Chromosome 14, 105236727: 105236727
8 AKT1 NM_005163.2(AKT1): c.1394G> A (p.Arg465His) single nucleotide variant Uncertain significance rs113547523 GRCh38 Chromosome 14, 104770390: 104770390
9 AKT1 NM_005163.2(AKT1): c.1251C> T (p.Tyr417=) single nucleotide variant Benign/Likely benign rs139297659 GRCh38 Chromosome 14, 104772374: 104772374
10 AKT1 NM_005163.2(AKT1): c.1251C> T (p.Tyr417=) single nucleotide variant Benign/Likely benign rs139297659 GRCh37 Chromosome 14, 105238711: 105238711
11 AKT1 NM_005163.2(AKT1): c.1020C> T (p.Tyr340=) single nucleotide variant Benign rs144088506 GRCh37 Chromosome 14, 105239367: 105239367
12 AKT1 NM_005163.2(AKT1): c.1020C> T (p.Tyr340=) single nucleotide variant Benign rs144088506 GRCh38 Chromosome 14, 104773030: 104773030
13 AKT1 NM_005163.2(AKT1): c.958-6G> A single nucleotide variant Benign rs199770031 GRCh38 Chromosome 14, 104773098: 104773098
14 AKT1 NM_005163.2(AKT1): c.958-6G> A single nucleotide variant Benign rs199770031 GRCh37 Chromosome 14, 105239435: 105239435
15 AKT1 NM_005163.2(AKT1): c.828+10C> T single nucleotide variant Uncertain significance rs370490407 GRCh37 Chromosome 14, 105239782: 105239782
16 AKT1 NM_005163.2(AKT1): c.828+10C> T single nucleotide variant Uncertain significance rs370490407 GRCh38 Chromosome 14, 104773445: 104773445
17 AKT1 NM_005163.2(AKT1): c.1431C> T (p.Ser477=) single nucleotide variant Likely benign rs200213561 GRCh37 Chromosome 14, 105236690: 105236690
18 AKT1 NM_005163.2(AKT1): c.1431C> T (p.Ser477=) single nucleotide variant Likely benign rs200213561 GRCh38 Chromosome 14, 104770353: 104770353
19 AKT1 NM_005163.2(AKT1): c.1389C> T (p.Ser463=) single nucleotide variant Benign rs144112075 GRCh37 Chromosome 14, 105236732: 105236732
20 AKT1 NM_005163.2(AKT1): c.1389C> T (p.Ser463=) single nucleotide variant Benign rs144112075 GRCh38 Chromosome 14, 104770395: 104770395
21 AKT1 NM_005163.2(AKT1): c.1380T> C (p.Cys460=) single nucleotide variant Likely benign rs139394285 GRCh37 Chromosome 14, 105236741: 105236741
22 AKT1 NM_005163.2(AKT1): c.1380T> C (p.Cys460=) single nucleotide variant Likely benign rs139394285 GRCh38 Chromosome 14, 104770404: 104770404
23 AKT1 NM_005163.2(AKT1): c.1329G> A (p.Thr443=) single nucleotide variant Likely benign rs376893212 GRCh37 Chromosome 14, 105237116: 105237116
24 AKT1 NM_005163.2(AKT1): c.1329G> A (p.Thr443=) single nucleotide variant Likely benign rs376893212 GRCh38 Chromosome 14, 104770779: 104770779
25 AKT1 NM_005163.2(AKT1): c.1233C> T (p.Ile411=) single nucleotide variant Likely benign rs375901448 GRCh37 Chromosome 14, 105238729: 105238729
26 AKT1 NM_005163.2(AKT1): c.1233C> T (p.Ile411=) single nucleotide variant Likely benign rs375901448 GRCh38 Chromosome 14, 104772392: 104772392
27 AKT1 NM_005163.2(AKT1): c.1228G> A (p.Gly410Ser) single nucleotide variant Uncertain significance rs146483593 GRCh37 Chromosome 14, 105238734: 105238734
28 AKT1 NM_005163.2(AKT1): c.1228G> A (p.Gly410Ser) single nucleotide variant Uncertain significance rs146483593 GRCh38 Chromosome 14, 104772397: 104772397
29 AKT1 NM_005163.2(AKT1): c.1227C> T (p.Ala409=) single nucleotide variant Likely benign rs141303557 GRCh37 Chromosome 14, 105238735: 105238735
30 AKT1 NM_005163.2(AKT1): c.1227C> T (p.Ala409=) single nucleotide variant Likely benign rs141303557 GRCh38 Chromosome 14, 104772398: 104772398
31 AKT1 NM_005163.2(AKT1): c.1179C> T (p.Gly393=) single nucleotide variant Benign rs11555434 GRCh38 Chromosome 14, 104772446: 104772446
32 AKT1 NM_005163.2(AKT1): c.1179C> T (p.Gly393=) single nucleotide variant Benign rs11555434 GRCh37 Chromosome 14, 105238783: 105238783
33 AKT1 NM_005163.2(AKT1): c.1032C> T (p.Cys344=) single nucleotide variant Benign rs56289559 GRCh37 Chromosome 14, 105239355: 105239355
34 AKT1 NM_005163.2(AKT1): c.1032C> T (p.Cys344=) single nucleotide variant Benign rs56289559 GRCh38 Chromosome 14, 104773018: 104773018
35 AKT1 NM_005163.2(AKT1): c.432C> T (p.Arg144=) single nucleotide variant Benign rs17846825 GRCh37 Chromosome 14, 105241992: 105241992
36 AKT1 NM_005163.2(AKT1): c.432C> T (p.Arg144=) single nucleotide variant Benign rs17846825 GRCh38 Chromosome 14, 104775655: 104775655
37 AKT1 NM_005163.2(AKT1): c.406G> A (p.Val136Met) single nucleotide variant Likely benign rs778376616 GRCh38 Chromosome 14, 104775681: 104775681
38 AKT1 NM_005163.2(AKT1): c.406G> A (p.Val136Met) single nucleotide variant Likely benign rs778376616 GRCh37 Chromosome 14, 105242018: 105242018
39 AKT1 NM_005163.2(AKT1): c.315T> C (p.Thr105=) single nucleotide variant Likely benign rs767715614 GRCh37 Chromosome 14, 105242109: 105242109
40 AKT1 NM_005163.2(AKT1): c.315T> C (p.Thr105=) single nucleotide variant Likely benign rs767715614 GRCh38 Chromosome 14, 104775772: 104775772
41 AKT1 NM_005163.2(AKT1): c.807C> T (p.Asn269=) single nucleotide variant Benign rs201044857 GRCh37 Chromosome 14, 105239813: 105239813
42 AKT1 NM_005163.2(AKT1): c.807C> T (p.Asn269=) single nucleotide variant Benign rs201044857 GRCh38 Chromosome 14, 104773476: 104773476
43 AKT1 NM_005163.2(AKT1): c.287+4C> T single nucleotide variant Uncertain significance rs745831501 GRCh37 Chromosome 14, 105242992: 105242992
44 AKT1 NM_005163.2(AKT1): c.287+4C> T single nucleotide variant Uncertain significance rs745831501 GRCh38 Chromosome 14, 104776655: 104776655
45 AKT1 NM_005163.2(AKT1): c.46+10C> T single nucleotide variant Likely benign rs372014221 GRCh37 Chromosome 14, 105258925: 105258925
46 AKT1 NM_005163.2(AKT1): c.46+10C> T single nucleotide variant Likely benign rs372014221 GRCh38 Chromosome 14, 104792588: 104792588
47 AKT1 NM_005163.2(AKT1): c.10G> A (p.Val4Met) single nucleotide variant Uncertain significance rs754031503 GRCh37 Chromosome 14, 105258971: 105258971
48 AKT1 NM_005163.2(AKT1): c.10G> A (p.Val4Met) single nucleotide variant Uncertain significance rs754031503 GRCh38 Chromosome 14, 104792634: 104792634
49 AKT1 NM_005163.2(AKT1): c.1341C> A (p.Ile447=) single nucleotide variant Likely benign rs1060504820 GRCh37 Chromosome 14, 105237104: 105237104
50 AKT1 NM_005163.2(AKT1): c.1341C> A (p.Ile447=) single nucleotide variant Likely benign rs1060504820 GRCh38 Chromosome 14, 104770767: 104770767

Expression for Cowden Syndrome 6

Search GEO for disease gene expression data for Cowden Syndrome 6.

Pathways for Cowden Syndrome 6

GO Terms for Cowden Syndrome 6

Sources for Cowden Syndrome 6

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