CWS6
MCID: CWD008
MIFTS: 30

Cowden Syndrome 6 (CWS6)

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

Aliases & Classifications for Cowden Syndrome 6

Summaries for Cowden Syndrome 6

UniProtKB/Swiss-Prot : 73 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 breast, thyroid and colon, and related phenotypes are intellectual disability and intellectual disability, mild

More information from OMIM: 615109 PS158350

Related Diseases for Cowden Syndrome 6

Symptoms & Phenotypes for Cowden Syndrome 6

Human phenotypes related to Cowden Syndrome 6:

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

Clinical features from OMIM:

615109

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:

40
Breast, Thyroid, Colon, Skin, Testis, Tongue

Publications for Cowden Syndrome 6

Articles related to Cowden Syndrome 6:

# Title Authors PMID Year
1
Germline PIK3CA and AKT1 mutations in Cowden and Cowden-like syndromes. 56 6
23246288 2013
2
Genetic/familial high-risk assessment: breast and ovarian, version 1.2014. 6
25190698 2014
3
Clinical genetics evaluation in identifying the etiology of autism spectrum disorders: 2013 guideline revisions. 6
23519317 2013
4
The first Dutch SDHB founder deletion in paraganglioma-pheochromocytoma patients. 6
19368708 2009
5
Germline mutations and variants in the succinate dehydrogenase genes in Cowden and Cowden-like syndromes. 6
18678321 2008
6
PTEN breast cancer susceptibility: a matter of dose. 61
22276040 2010

Variations for Cowden Syndrome 6

ClinVar genetic disease variations for Cowden Syndrome 6:

6 (show top 50) (show all 151) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 AKT1 NM_005163.2(AKT1):c.73C>T (p.Arg25Cys)SNV Pathogenic 40162 rs397514644 14:105246527-105246527 14:104780190-104780190
2 AKT1 NM_005163.2(AKT1):c.1303A>C (p.Thr435Pro)SNV Pathogenic 40163 rs397514645 14:105237142-105237142 14:104770805-104770805
3 AKT1 NM_005163.2(AKT1):c.570C>T (p.Asp190=)SNV Conflicting interpretations of pathogenicity 540904 rs780207480 14:105241338-105241338 14:104775001-104775001
4 AKT1 NM_005163.2(AKT1):c.138C>A (p.Asp46Glu)SNV Conflicting interpretations of pathogenicity 133455 rs146875699 14:105246462-105246462 14:104780125-104780125
5 AKT1 NM_005163.2(AKT1):c.406G>A (p.Val136Met)SNV Conflicting interpretations of pathogenicity 240112 rs778376616 14:105242018-105242018 14:104775681-104775681
6 AKT1 NM_005163.2(AKT1):c.738C>T (p.Ser246=)SNV Conflicting interpretations of pathogenicity 473861 rs368667384 14:105239882-105239882 14:104773545-104773545
7 AKT1 NM_005163.2(AKT1):c.142C>T (p.Arg48Cys)SNV Uncertain significance 473854 rs374093099 14:105246458-105246458 14:104780121-104780121
8 AKT1 NM_005163.2(AKT1):c.1320G>T (p.Glu440Asp)SNV Uncertain significance 473852 rs1159942120 14:105237125-105237125 14:104770788-104770788
9 AKT1 NM_005163.2(AKT1):c.1242G>C (p.Gln414His)SNV Uncertain significance 473851 rs1555383354 14:105238720-105238720 14:104772383-104772383
10 AKT1 NM_005163.2(AKT1):c.1191G>T (p.Glu397Asp)SNV Uncertain significance 473848 rs1334042967 14:105238771-105238771 14:104772434-104772434
11 AKT1 NM_005163.2(AKT1):c.1260+4C>TSNV Uncertain significance 410906 rs765999603 14:105238698-105238698 14:104772361-104772361
12 AKT1 NM_005163.2(AKT1):c.763G>A (p.Ala255Thr)SNV Uncertain significance 410914 rs375395037 14:105239857-105239857 14:104773520-104773520
13 AKT1 NM_005163.2(AKT1):c.520C>T (p.Arg174Cys)SNV Uncertain significance 473857 rs983007851 14:105241460-105241460 14:104775123-104775123
14 AKT1 NM_005163.2(AKT1):c.798G>A (p.Ser266=)SNV Uncertain significance 473863 rs367635775 14:105239822-105239822 14:104773485-104773485
15 AKT1 NM_005163.2(AKT1):c.287+4C>TSNV Uncertain significance 410908 rs745831501 14:105242992-105242992 14:104776655-104776655
16 AKT1 NM_005163.2(AKT1):c.10G>A (p.Val4Met)SNV Uncertain significance 410911 rs754031503 14:105258971-105258971 14:104792634-104792634
17 AKT1 NM_005163.2(AKT1):c.721C>T (p.Arg241Trp)SNV Uncertain significance 410909 rs768606668 14:105239899-105239899 14:104773562-104773562
18 AKT1 NM_005163.2(AKT1):c.431G>A (p.Arg144His)SNV Uncertain significance 410907 rs1060503071 14:105241993-105241993 14:104775656-104775656
19 AKT1 NM_005163.2(AKT1):c.288-3C>TSNV Uncertain significance 410913 rs61761189 14:105242139-105242139 14:104775802-104775802
20 AKT1 NM_005163.2(AKT1):c.106A>G (p.Ile36Val)SNV Uncertain significance 410910 rs781339141 14:105246494-105246494 14:104780157-104780157
21 AKT1 NM_005163.2(AKT1):c.7G>A (p.Asp3Asn)SNV Uncertain significance 410915 rs140532443 14:105258974-105258974 14:104792637-104792637
22 AKT1 NM_005163.2(AKT1):c.828+4C>TSNV Uncertain significance 410912 rs3730330 14:105239788-105239788 14:104773451-104773451
23 AKT1 NM_005163.2(AKT1):c.1261C>T (p.Leu421Phe)SNV Uncertain significance 569447 rs1566815164 14:105237184-105237184 14:104770847-104770847
24 AKT1 NM_005163.2(AKT1):c.1109G>A (p.Arg370His)SNV Uncertain significance 582264 rs746272761 14:105239278-105239278 14:104772941-104772941
25 AKT1 NM_005163.2(AKT1):c.143G>A (p.Arg48His)SNV Uncertain significance 573811 rs774836044 14:105246457-105246457 14:104780120-104780120
26 AKT1 NM_005163.2(AKT1):c.107T>C (p.Ile36Thr)SNV Uncertain significance 566644 rs758157217 14:105246493-105246493 14:104780156-104780156
27 AKT1 NM_005163.2(AKT1):c.1432G>A (p.Gly478Ser)SNV Uncertain significance 575013 rs1205616929 14:105236689-105236689 14:104770352-104770352
28 AKT1 NM_005163.2(AKT1):c.1159G>A (p.Asp387Asn)SNV Uncertain significance 576796 rs1566816289 14:105239228-105239228 14:104772891-104772891
29 AKT1 NM_005163.2(AKT1):c.828+5G>ASNV Uncertain significance 575194 rs1199214347 14:105239787-105239787 14:104773450-104773450
30 AKT1 NM_005163.2(AKT1):c.751C>T (p.Arg251Cys)SNV Uncertain significance 570835 rs780571834 14:105239869-105239869 14:104773532-104773532
31 AKT1 NM_005163.2(AKT1):c.436-3T>CSNV Uncertain significance 573803 rs368553273 14:105241547-105241547 14:104775210-104775210
32 AKT1 NM_005163.2(AKT1):c.430C>T (p.Arg144Cys)SNV Uncertain significance 580799 rs375990114 14:105241994-105241994 14:104775657-104775657
33 AKT1 NM_005163.2(AKT1):c.176-5C>TSNV Uncertain significance 582800 rs377076374 14:105243112-105243112 14:104776775-104776775
34 AKT1 NM_005163.2(AKT1):c.4A>G (p.Ser2Gly)SNV Uncertain significance 568540 rs1566826869 14:105258977-105258977 14:104792640-104792640
35 AKT1 NM_005163.2(AKT1):c.1390G>A (p.Glu464Lys)SNV Uncertain significance 584874 rs745803788 14:105236731-105236731 14:104770394-104770394
36 AKT1 NM_005163.2(AKT1):c.356A>G (p.Asp119Gly)SNV Uncertain significance 584875 rs1566818099 14:105242068-105242068 14:104775731-104775731
37 AKT1 NM_005163.2(AKT1):c.176-5C>ASNV Uncertain significance 584876 rs377076374 14:105243112-105243112 14:104776775-104776775
38 AKT1 NM_005163.2(AKT1):c.1112C>A (p.Thr371Lys)SNV Uncertain significance 659912 14:105239275-105239275 14:104772938-104772938
39 AKT1 NM_005163.2(AKT1):c.1099C>T (p.Arg367Cys)SNV Uncertain significance 659022 14:105239288-105239288 14:104772951-104772951
40 AKT1 NM_005163.2(AKT1):c.1198A>G (p.Lys400Glu)SNV Uncertain significance 664530 14:105238764-105238764 14:104772427-104772427
41 AKT1 NM_005163.2(AKT1):c.1195G>A (p.Ala399Thr)SNV Uncertain significance 640033 14:105238767-105238767 14:104772430-104772430
42 AKT1 NM_005163.2(AKT1):c.907G>A (p.Gly303Ser)SNV Uncertain significance 639439 14:105239638-105239638 14:104773301-104773301
43 AKT1 NM_005163.2(AKT1):c.797C>T (p.Ser266Leu)SNV Uncertain significance 651050 14:105239823-105239823 14:104773486-104773486
44 AKT1 NM_005163.2(AKT1):c.745C>T (p.Arg249Trp)SNV Uncertain significance 662075 14:105239875-105239875 14:104773538-104773538
45 AKT1 NM_005163.2(AKT1):c.692A>G (p.Asn231Ser)SNV Uncertain significance 661171 14:105240259-105240259 14:104773922-104773922
46 AKT1 NM_005163.2(AKT1):c.512C>T (p.Ala171Val)SNV Uncertain significance 639523 14:105241468-105241468 14:104775131-104775131
47 AKT1 NM_005163.2(AKT1):c.362G>A (p.Arg121Gln)SNV Uncertain significance 659394 14:105242062-105242062 14:104775725-104775725
48 AKT1 NM_005163.2(AKT1):c.117G>A (p.Lys39=)SNV Uncertain significance 659789 14:105246483-105246483 14:104780146-104780146
49 AKT1 NM_005163.2(AKT1):c.175+5G>ASNV Uncertain significance 649972 14:105246420-105246420 14:104780083-104780083
50 AKT1 NM_005163.2(AKT1):c.829-4C>TSNV Uncertain significance 664763 14:105239720-105239720 14:104773383-104773383

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

73
# Symbol AA change Variation ID SNP ID
1 AKT1 p.Arg25Cys VAR_069791 rs397514644
2 AKT1 p.Thr435Pro VAR_069792 rs397514645

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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