CWS6
MCID: CWD008
MIFTS: 29

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

MalaCards integrated aliases for Cowden Syndrome 6:

Name: Cowden Syndrome 6 57 74 29 13 6 72
Cws6 57 74
Cowden Syndrome, Type 6 40

Characteristics:

HPO:

32
cowden syndrome 6:
Inheritance autosomal dominant inheritance
Onset and clinical course adult onset


Classifications:



External Ids:

MeSH 44 D006223
UMLS 72 C3554519

Summaries for Cowden Syndrome 6

UniProtKB/Swiss-Prot : 74 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:

32 (show all 36)
# Description HPO Frequency HPO Source Accession
1 intellectual disability 32 very rare (1%) HP:0001249
2 intellectual disability, mild 32 very rare (1%) HP:0001256
3 pectus excavatum 32 HP:0000767
4 high palate 32 HP:0000218
5 hypothyroidism 32 HP:0000821
6 seizures 32 HP:0001250
7 scoliosis 32 HP:0002650
8 kyphosis 32 HP:0002808
9 hearing impairment 32 HP:0000365
10 cataract 32 HP:0000518
11 abnormality of the cardiovascular system 32 HP:0001626
12 micrognathia 32 HP:0000347
13 narrow mouth 32 HP:0000160
14 myopia 32 HP:0000545
15 thyroiditis 32 HP:0100646
16 intention tremor 32 HP:0002080
17 hyperthyroidism 32 HP:0000836
18 goiter 32 HP:0000853
19 hypoplasia of the maxilla 32 HP:0000327
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 fibroadenoma of the breast 32 HP:0010619
34 transitional cell carcinoma of the bladder 32 HP:0006740
35 progressive macrocephaly 32 HP:0004481
36 angioid streaks of the fundus 32 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:

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

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. 8 71
23246288 2013
2
Genetic/familial high-risk assessment: breast and ovarian, version 1.2014. 71
25190698 2014
3
Clinical genetics evaluation in identifying the etiology of autism spectrum disorders: 2013 guideline revisions. 71
23519317 2013
4
The first Dutch SDHB founder deletion in paraganglioma-pheochromocytoma patients. 71
19368708 2009
5
Germline mutations and variants in the succinate dehydrogenase genes in Cowden and Cowden-like syndromes. 71
18678321 2008
6
PTEN breast cancer susceptibility: a matter of dose. 38
22276040 2010

Variations for Cowden Syndrome 6

ClinVar genetic disease variations for Cowden Syndrome 6:

6 (show top 50) (show all 122)
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 AKT1 NM_005163.2(AKT1): c.73C> T (p.Arg25Cys) single nucleotide variant Pathogenic rs397514644 14:105246527-105246527 14:104780190-104780190
2 AKT1 NM_005163.2(AKT1): c.1303A> C (p.Thr435Pro) single nucleotide variant Pathogenic rs397514645 14:105237142-105237142 14:104770805-104770805
3 AKT1 NM_005163.2(AKT1): c.570C> T (p.Asp190=) single nucleotide variant Conflicting interpretations of pathogenicity rs780207480 14:105241338-105241338 14:104775001-104775001
4 AKT1 NM_005163.2(AKT1): c.406G> A (p.Val136Met) single nucleotide variant Conflicting interpretations of pathogenicity rs778376616 14:105242018-105242018 14:104775681-104775681
5 AKT1 NM_005163.2(AKT1): c.49G> A (p.Glu17Lys) single nucleotide variant Uncertain significance rs121434592 14:105246551-105246551 14:104780214-104780214
6 AKT1 NM_005163.2(AKT1): c.1261C> T (p.Leu421Phe) single nucleotide variant Uncertain significance 14:105237184-105237184 14:104770847-104770847
7 AKT1 NM_005163.2(AKT1): c.1109G> A (p.Arg370His) single nucleotide variant Uncertain significance 14:105239278-105239278 14:104772941-104772941
8 AKT1 NM_005163.2(AKT1): c.143G> A (p.Arg48His) single nucleotide variant Uncertain significance 14:105246457-105246457 14:104780120-104780120
9 AKT1 NM_005163.2(AKT1): c.107T> C (p.Ile36Thr) single nucleotide variant Uncertain significance 14:105246493-105246493 14:104780156-104780156
10 AKT1 NM_005163.2(AKT1): c.1432G> A (p.Gly478Ser) single nucleotide variant Uncertain significance 14:105236689-105236689 14:104770352-104770352
11 AKT1 NM_005163.2(AKT1): c.1159G> A (p.Asp387Asn) single nucleotide variant Uncertain significance 14:105239228-105239228 14:104772891-104772891
12 AKT1 NM_005163.2(AKT1): c.828+5G> A single nucleotide variant Uncertain significance 14:105239787-105239787 14:104773450-104773450
13 AKT1 NM_005163.2(AKT1): c.751C> T (p.Arg251Cys) single nucleotide variant Uncertain significance 14:105239869-105239869 14:104773532-104773532
14 AKT1 NM_005163.2(AKT1): c.436-3T> C single nucleotide variant Uncertain significance 14:105241547-105241547 14:104775210-104775210
15 AKT1 NM_005163.2(AKT1): c.430C> T (p.Arg144Cys) single nucleotide variant Uncertain significance 14:105241994-105241994 14:104775657-104775657
16 AKT1 NM_005163.2(AKT1): c.176-5C> T single nucleotide variant Uncertain significance 14:105243112-105243112 14:104776775-104776775
17 AKT1 NM_005163.2(AKT1): c.4A> G (p.Ser2Gly) single nucleotide variant Uncertain significance 14:105258977-105258977 14:104792640-104792640
18 AKT1 NM_005163.2(AKT1): c.1390G> A (p.Glu464Lys) single nucleotide variant Uncertain significance 14:105236731-105236731 14:104770394-104770394
19 AKT1 NM_005163.2(AKT1): c.356A> G (p.Asp119Gly) single nucleotide variant Uncertain significance 14:105242068-105242068 14:104775731-104775731
20 AKT1 NM_005163.2(AKT1): c.176-5C> A single nucleotide variant Uncertain significance 14:105243112-105243112 14:104776775-104776775
21 AKT1 NM_005163.2(AKT1): c.1198A> G (p.Lys400Glu) single nucleotide variant Uncertain significance 14:105238764-105238764 14:104772427-104772427
22 AKT1 NM_005163.2(AKT1): c.1195G> A (p.Ala399Thr) single nucleotide variant Uncertain significance 14:105238767-105238767 14:104772430-104772430
23 AKT1 NM_005163.2(AKT1): c.1112C> A (p.Thr371Lys) single nucleotide variant Uncertain significance 14:105239275-105239275 14:104772938-104772938
24 AKT1 NM_005163.2(AKT1): c.1099C> T (p.Arg367Cys) single nucleotide variant Uncertain significance 14:105239288-105239288 14:104772951-104772951
25 AKT1 NM_005163.2(AKT1): c.907G> A (p.Gly303Ser) single nucleotide variant Uncertain significance 14:105239638-105239638 14:104773301-104773301
26 AKT1 NM_005163.2(AKT1): c.545A> G (p.Lys182Arg) single nucleotide variant Uncertain significance rs1555383695 14:105241435-105241435 14:104775098-104775098
27 AKT1 NM_005163.2(AKT1): c.287+5G> A single nucleotide variant Uncertain significance rs373853807 14:105242991-105242991 14:104776654-104776654
28 AKT1 NM_005163.2(AKT1): c.828+10C> T single nucleotide variant Uncertain significance rs370490407 14:105239782-105239782 14:104773445-104773445
29 AKT1 NM_005163.2(AKT1): c.1228G> A (p.Gly410Ser) single nucleotide variant Uncertain significance rs146483593 14:105238734-105238734 14:104772397-104772397
30 AKT1 NM_005163.2(AKT1): c.797C> T (p.Ser266Leu) single nucleotide variant Uncertain significance 14:105239823-105239823 14:104773486-104773486
31 AKT1 NM_005163.2(AKT1): c.745C> T (p.Arg249Trp) single nucleotide variant Uncertain significance 14:105239875-105239875 14:104773538-104773538
32 AKT1 NM_005163.2(AKT1): c.692A> G (p.Asn231Ser) single nucleotide variant Uncertain significance 14:105240259-105240259 14:104773922-104773922
33 AKT1 NM_005163.2(AKT1): c.512C> T (p.Ala171Val) single nucleotide variant Uncertain significance 14:105241468-105241468 14:104775131-104775131
34 AKT1 NM_005163.2(AKT1): c.362G> A (p.Arg121Gln) single nucleotide variant Uncertain significance 14:105242062-105242062 14:104775725-104775725
35 AKT1 NM_005163.2(AKT1): c.117G> A (p.Lys39=) single nucleotide variant Uncertain significance 14:105246483-105246483 14:104780146-104780146
36 AKT1 NM_005163.2(AKT1): c.175+5G> A single nucleotide variant Uncertain significance 14:105246420-105246420 14:104780083-104780083
37 AKT1 NM_005163.2(AKT1): c.829-4C> T single nucleotide variant Uncertain significance 14:105239720-105239720 14:104773383-104773383
38 AKT1 NM_005163.2(AKT1): c.828+5G> C single nucleotide variant Uncertain significance 14:105239787-105239787 14:104773450-104773450
39 AKT1 NM_005163.2(AKT1): c.176-3C> G single nucleotide variant Uncertain significance 14:105243110-105243110 14:104776773-104776773
40 AKT1 NM_005163.2(AKT1): c.1099C> A (p.Arg367Ser) single nucleotide variant Uncertain significance rs762705090 14:105239288-105239288 14:104772951-104772951
41 AKT1 NM_005163.2(AKT1): c.917T> C (p.Met306Thr) single nucleotide variant Uncertain significance rs1555383471 14:105239628-105239628 14:104773291-104773291
42 AKT1 NM_005163.2(AKT1): c.142C> T (p.Arg48Cys) single nucleotide variant Uncertain significance rs374093099 14:105246458-105246458 14:104780121-104780121
43 AKT1 NM_005163.2(AKT1): c.1320G> T (p.Glu440Asp) single nucleotide variant Uncertain significance rs1159942120 14:105237125-105237125 14:104770788-104770788
44 AKT1 NM_005163.2(AKT1): c.1242G> C (p.Gln414His) single nucleotide variant Uncertain significance rs1555383354 14:105238720-105238720 14:104772383-104772383
45 AKT1 NM_005163.2(AKT1): c.1191G> T (p.Glu397Asp) single nucleotide variant Uncertain significance rs1334042967 14:105238771-105238771 14:104772434-104772434
46 AKT1 NM_005163.2(AKT1): c.227G> A (p.Arg76His) single nucleotide variant Uncertain significance rs771065764 14:105243056-105243056 14:104776719-104776719
47 AKT1 NM_005163.2(AKT1): c.206G> A (p.Arg69Gln) single nucleotide variant Uncertain significance rs183989506 14:105243077-105243077 14:104776740-104776740
48 AKT1 NM_005163.2(AKT1): c.174G> A (p.Ala58=) single nucleotide variant Uncertain significance rs560243859 14:105246426-105246426 14:104780089-104780089
49 AKT1 NM_005163.2(AKT1): c.1373T> C (p.Met458Thr) single nucleotide variant Uncertain significance rs587778018 14:105236748-105236748 14:104770411-104770411
50 AKT1 NM_005163.2(AKT1): c.138C> A (p.Asp46Glu) single nucleotide variant Uncertain significance rs146875699 14:105246462-105246462 14:104780125-104780125

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

74
# 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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