WS
MCID: WRN001
MIFTS: 72

Werner Syndrome (WS) malady

Genetic diseases, Rare diseases, Eye diseases, Skin diseases, Fetal diseases, Cancer diseases categories
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Summaries for Werner Syndrome

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NIH Rare Diseases:42 Werner's syndrome is a disease chiefly characterized by premature aging and cancer predisposition. development is typically normal until the end of the first decade; the first sign is the lack of a growth spurt during puberty. early signs (usually in the 20s) include loss and graying of hair, hoarseness, and scleroderma-like skin changes, followed by cataracts, type 2 diabetes mellitus, hypogonadism, skin ulcers, and osteoporosis in the 30s. myocardial infarction (heart attack) and cancer are the most common causes of death, which typically occurs in the late 40s. it is caused by mutations in the wrn gene and is inherited in an autosomal recessive manner. management focuses on treatment of signs and symptoms and prevention of secondary complications. last updated: 4/29/2011

MalaCards based summary: Werner Syndrome, also known as werner's syndrome, is related to progeria and rapadilino syndrome, and has symptoms including cataract/lens opacification, beaked nose and anomalies of chest/thorax/trunk. An important gene associated with Werner Syndrome is WRN (Werner syndrome, RecQ helicase-like), and among its related pathways are Regulation of Telomerase and Fanconi anemia pathway. The compounds 8-oxoguanine and polynucleotide have been mentioned in the context of this disorder. Affiliated tissues include skin, heart and thyroid, and related mouse phenotypes are vision/eye and integument.

Genetics Home Reference:21 Werner syndrome is characterized by the dramatic, rapid appearance of features associated with normal aging. Individuals with this disorder typically grow and develop normally until they reach puberty. Affected teenagers usually do not have a growth spurt, resulting in short stature. The characteristic aged appearance of individuals with Werner syndrome typically begins to develop when they are in their twenties and includes graying and loss of hair; a hoarse voice; and thin, hardened skin. They may also have a facial appearance described as "bird-like." Many people with Werner syndrome have thin arms and legs and a thick trunk due to abnormal fat deposition.

Wikipedia:65 Werner syndrome (WS), also known as \"adult progeria\", is a rare, autosomal recessiveprogeroid syndrome... more...

Description from OMIM:46 277700

GeneReviews summary for werner

Aliases & Classifications for Werner Syndrome

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Sources:
8Disease Ontology, 9diseasecard, 19GeneReviews, 42NIH Rare Diseases, 21Genetics Home Reference, 46OMIM, 10DISEASES, 44Novoseek, 48Orphanet, 62UMLS, 20GeneTests, 22GTR, 39NCIt, 34MeSH, 57SNOMED-CT, 35MESH via Orphanet, 26ICD10 via Orphanet, 63UMLS via Orphanet
See all sources

Werner Syndrome, Aliases & Descriptions:

Name: Werner Syndrome 8 9 19 42 21 46 10 44 48 62
Werner's Syndrome 8 42 20 22 21
Adult Progeria 8 21 48
Ws 8 21 48
 
Adult Premature Aging Syndrome 21 62
Werners Syndrome 21 62
Adult Premature Ageing Syndrome 8
Wrn 42


Classifications:



Characteristics (Orphanet epidemiological data):

48
werner syndrome:
Inheritance: Autosomal recessive; Prevalence: 1-9/1000000; Age of onset: Adolescence / Young adulthood


External Ids:

Disease Ontology8 DOID:5688
NCIt39 C3447
MeSH34 D014898
OMIM46 277700
MESH via Orphanet35 D014898
ICD10 via Orphanet26 E34.8
UMLS via Orphanet63 C0043119

Related Diseases for Werner Syndrome

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Diseases related to Werner Syndrome via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show top 50)    (show all 79)
idRelated DiseaseScoreTop Affiliating Genes
1progeria31.2WRN, LMNA
2rapadilino syndrome30.8RECQL4, WRN
3rothmund-thomson syndrome30.4RECQL4, WRN, BLM
4ataxia telangiectasia30.4RPA1, WRN, BLM
5osteosarcoma30.1WRN, RECQL4, RPA1
6bloom syndrome29.6BLM, WRN, FEN1, RECQL4, RAD54L
7xeroderma pigmentosum29.6FEN1, RPA1, RAD54L
8leukemia29.5RPA1, RECQL4, GYPA, POLB
9breast cancer29.2RPA1, LMNA, POLB, FEN1, WRN
10williams syndrome10.6
11atypical werner syndrome10.5
12waardenburg syndrome type i10.4
13insulin resistance10.4
14waardenburg syndrome type 310.3
15meningioma10.3
16waardenburg syndrome type 2a10.3
17waardenburg syndrome type iva10.3
18colorectal cancer10.3
19ataxia10.3
20spondylosis10.2
21artery disease10.2
22hyperglycemia10.2
23sarcoma10.2
24thyroiditis10.2
25pyridoxine-refractory autosomal recessive sideroblastic anemia10.2LMNA, WRN
26bile reflux10.1
27waardenburg syndrome type 210.1
28waardenburg syndrome type ivb10.1
29waardenburg syndrome type ivc10.1
30waardenburg syndrome type iid10.1
31waardenburg syndrome, type 2e, with or without neurologic involvement10.1
32atherosclerosis10.0
33bladder carcinoma10.0
34cataract10.0
35diabetes mellitus10.0
36ectodermal dysplasia10.0
37hiv-110.0
38obesity10.0
39osteoporosis10.0
40pancreatic cancer10.0
41petroclival meningioma10.0
42fragile x syndrome10.0
43down syndrome10.0
44tangier disease10.0
45cystoid macular edema10.0
46neuronitis10.0
47aortic valve stenosis10.0
48chondrosarcoma10.0
49lipodystrophy10.0
50lung cancer10.0

Graphical network of the top 20 diseases related to Werner Syndrome:



Diseases related to werner syndrome

Symptoms for Werner Syndrome

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Symptoms by clinical synopsis from OMIM:

277700

Clinical features from OMIM:

277700

Symptoms:

48 (show all 56)
  • cataract/lens opacification
  • beaked nose
  • anomalies of chest/thorax/trunk
  • global upper and lower limbs anomalies
  • lipoatrophy
  • hypotrichosis/atrichia/atrichiasis/scalp hairlessness
  • white forelock/piebaldism
  • abnormal fall of hair
  • pili torti
  • arterial atheroma/precocious atherosclerosis/arteriosclerosis
  • autosomal recessive inheritance
  • short stature/dwarfism/nanism
  • premature ageing
  • narrow face
  • retinitis pigmentosa/retinal pigmentary changes
  • small hand/acromicria
  • pes talus
  • skin hypoplasia/aplasia/atrophy
  • hyperkeratosis/ainhum/hyperkeratotic skin fissures
  • chronic skin infection/ulcerations/ulcers/cancrum
  • tight skin/lack of elasticity
  • telangiectasiae of the skin
  • abnormal cry/voice/phonation disorder/nasal speech
  • pulmonary artery stenosis/absence/hypoplasia of the pulmonary branches
  • angor pectoris/myocardial infarction
  • heart/cardiac failure
  • arterial pulse abolition
  • testis anomalies
  • small/atrophic/hypoplastic testes/monorchism/microorchidism/anorchia
  • sterility/hypofertility
  • diabetes mellitus
  • late puberty/hypogonadism/hypogenitalism
  • muscle hypotrophy/atrophy/dystrophy/agenesis/amyotrophy
  • osteoporosis/osteopenia/demineralisation/osteomalacia/rickets
  • osteosclerosis/osteopetrosis/bone condensation
  • periarticular tissue anomaly/extraarticular calcifications
  • abnormal fat distribution/lipodystrophy
  • laryngomalacia
  • chronic arterial hypertension
  • precocious menopause/secondary amenorrhea
  • cerebral vascular anomalies
  • restricted joint mobility/joint stiffness/ankylosis
  • neoplasms/tumors
  • oropharyngeal neoplasm/tumor/carcinoma/cancer
  • oral cavity/tongue neoplasm/tumor/carcinoma/cancer
  • digestive neoplasm/tumor/carcinoma/cancer
  • small bowel neoplasm/tumor/carcinoma/cancer
  • lung/bronchopulmonary neoplasm/tumor/carcinoma/cancer
  • breast neoplasm/tumor/carcinoma/cancer
  • ovary/fallopian tube neoplasm/tumor/carcinoma/cancer (excl. teratoma/germinoma)
  • kidney/renal neoplasm/tumor/carcinoma/cancer
  • thyroid neoplasm/tumor/carcinoma/cancer
  • skin/cutaneous neoplasm/tumor/carcinoma/cancer (excluding melanoma)
  • sarcoma
  • meningioma
  • autosomal dominant inheritance

HPO human phenotypes related to Werner Syndrome:

(show all 59)
id Description Frequency HPO Source Accession
1 convex nasal ridge hallmark (90%) HP:0000444
2 cataract hallmark (90%) HP:0000518
3 abnormality of the thorax hallmark (90%) HP:0000765
4 white forelock hallmark (90%) HP:0002211
5 pili torti hallmark (90%) HP:0003777
6 short stature hallmark (90%) HP:0004322
7 prematurely aged appearance hallmark (90%) HP:0007495
8 abnormal hair whorl hallmark (90%) HP:0010721
9 abnormal hair quantity hallmark (90%) HP:0011362
10 lipoatrophy hallmark (90%) HP:0100578
11 abnormality of the testis typical (50%) HP:0000035
12 decreased fertility typical (50%) HP:0000144
13 narrow face typical (50%) HP:0000275
14 diabetes mellitus typical (50%) HP:0000819
15 chondrocalcinosis typical (50%) HP:0000934
16 hyperkeratosis typical (50%) HP:0000962
17 abnormality of the voice typical (50%) HP:0001608
18 congestive heart failure typical (50%) HP:0001635
19 coronary artery disease typical (50%) HP:0001677
20 rocker bottom foot typical (50%) HP:0001838
21 amyotrophy typical (50%) HP:0003202
22 short palm typical (50%) HP:0004279
23 reduced bone mineral density typical (50%) HP:0004349
24 abnormality of the pulmonary artery typical (50%) HP:0004414
25 abnormal retinal pigmentation typical (50%) HP:0007703
26 aplasia/hypoplasia of the skin typical (50%) HP:0008065
27 increased bone mineral density typical (50%) HP:0011001
28 teleangiectasia of the skin typical (50%) HP:0100585
29 lack of skin elasticity typical (50%) HP:0100679
30 skin ulcer typical (50%) HP:0200042
31 hypertension occasional (7.5%) HP:0000822
32 secondary amenorrhea occasional (7.5%) HP:0000869
33 limitation of joint mobility occasional (7.5%) HP:0001376
34 laryngomalacia occasional (7.5%) HP:0001601
35 meningioma occasional (7.5%) HP:0002858
36 neoplasm of the skin occasional (7.5%) HP:0008069
37 renal neoplasm occasional (7.5%) HP:0009726
38 neoplasm of the breast occasional (7.5%) HP:0100013
39 neoplasm of the thyroid gland occasional (7.5%) HP:0100031
40 sarcoma occasional (7.5%) HP:0100242
41 neoplasm of the lung occasional (7.5%) HP:0100526
42 ovarian neoplasm occasional (7.5%) HP:0100615
43 neoplasm of the oral cavity occasional (7.5%) HP:0100649
44 abnormality of the cerebral vasculature occasional (7.5%) HP:0100659
45 neoplasm of the small intestine occasional (7.5%) HP:0100833
46 autosomal recessive inheritance HP:0000007
47 hypogonadism HP:0000135
48 convex nasal ridge HP:0000444
49 cataract HP:0000518
50 retinal degeneration HP:0000546
51 diabetes mellitus HP:0000819
52 osteoporosis HP:0000939
53 abnormality of the hair HP:0001595
54 osteosarcoma HP:0002669
55 meningioma HP:0002858
56 short stature HP:0004322
57 premature arteriosclerosis HP:0005177
58 progeroid facial appearance HP:0005328
59 subcutaneous calcification HP:0007618

Drugs & Therapeutics for Werner Syndrome

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Drug clinical trials:

Search ClinicalTrials for Werner Syndrome

Search NIH Clinical Center for Werner Syndrome

Genetic Tests for Werner Syndrome

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Genetic tests related to Werner Syndrome:

id Genetic test Affiliating Genes
1 Werner Syndrome20 22 WRN

Anatomical Context for Werner Syndrome

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MalaCards organs/tissues related to Werner Syndrome:

32
Skin, Heart, Thyroid, Kidney, Lung, Breast, Eye, Bone, Ovary, Testis, Testes, Tongue, Liver, Retina

Animal Models for Werner Syndrome or affiliated genes

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MGI Mouse Phenotypes related to Werner Syndrome:

36 (show all 12)
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053919.1TREX1, RECQL4, LMNA, WRN
2MP:00107718.4BLM, WRN, POLB, LMNA, RECQL4, TREX1
3MP:00053708.4FEN1, POLB, LMNA, TREX1
4MP:00053818.4WRN, FEN1, LMNA, RECQL4, TREX1
5MP:00020068.2BLM, WRN, FEN1, RECQL4, RPA1
6MP:00053888.2FEN1, POLB, LMNA, TREX1
7MP:00053767.6WRN, FEN1, POLB, LMNA, RAD54L, TREX1
8MP:00053787.6BLM, WRN, FEN1, POLB, LMNA, RECQL4
9MP:00053976.8BLM, FEN1, POLB, LMNA, RECQL4, RPA1
10MP:00053876.6TREX1, BLM, WRN, FEN1, POLB, LMNA
11MP:00053846.5BLM, WRN, FEN1, POLB, LMNA, RECQL4
12MP:00107686.5BLM, WRN, FEN1, POLB, LMNA, RECQL4

Publications for Werner Syndrome

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Articles related to Werner Syndrome:

(show top 50)    (show all 420)
idTitleAuthorsYear
1
Expression profile of Caenorhabditis elegans mutant for the Werner syndrome gene ortholog reveals the impact of vitamin C on development to increase life span. (25346348)
2014
2
First Japanese case of atypical progeroid syndrome/atypical Werner syndrome with heterozygous LMNA mutation. (25327215)
2014
3
DNA damage accumulation and TRF2 degradation in atypical Werner syndrome fibroblasts with LMNA mutations. (23847654)
2013
4
Werner syndrome helicase has a critical role in DNA damage responses in the absence of a functional fanconi anemia pathway. (23867477)
2013
5
Diabetes mellitus and cancer in Werner syndrome. (23386316)
2013
6
Leg ulcer in Werner syndrome (adult progeria): a case report. (23552003)
2013
7
The effect of small-molecule inhibition of MAPKAPK2 on cell ageing phenotypes of fibroblasts from human Werner syndrome. (23360642)
2013
8
The Werner syndrome protein: linking the replication checkpoint response to genome stability. (21389352)
2011
9
Identification of a coiled coil in werner syndrome protein that facilitates multimerization and promotes exonuclease processivity. (20516064)
2010
10
Estrogen prevents senescence through induction of WRN, Werner syndrome protein. (20395656)
2010
11
Mitochondrial dysfunction in some oxidative stress-related genetic diseases: Ataxia-Telangiectasia, Down Syndrome, Fanconi Anaemia and Werner Syndrome. (20237955)
2010
12
Evaluating the role of p38 MAP kinase in growth of Werner syndrome fibroblasts. (20536832)
2010
13
Microwave-assisted synthesis of a pyrazolyl ketone library for evaluation as p38 MAPK inhibitors in Werner syndrome cells. (21426187)
2010
14
Werner syndrome as a possible cause of non-alcoholic steatohepatitis. (19720629)
2009
15
Sirtuin-mediated deacetylation pathway stabilizes Werner syndrome protein. (18588880)
2008
16
Secular trends towards delayed onsets of pathologies and prolonged longevities in Japanese patients with Werner syndrome. (20103906)
2008
17
Rapid synthesis of VX-745: p38 MAP kinase inhibition in Werner syndrome cells. (17659871)
2007
18
Role for the Werner syndrome protein in the promotion of tumor cell growth. (17624410)
2007
19
Physical and functional interactions between Werner syndrome helicase and mismatch-repair initiation factors. (17715146)
2007
20
Length-dependent degradation of single-stranded 3' ends by the Werner syndrome protein (WRN): implications for spatial orientation and coordinated 3' to 5' movement of its ATPase/helicase and exonuclease domains. (16503984)
2006
21
Werner syndrome: molecular insights into the relationships between defective DNA metabolism, genomic instability, cancer and aging. (16720342)
2006
22
Collaboration of Werner syndrome protein and BRCA1 in cellular responses to DNA interstrand cross-links. (16714450)
2006
23
In vivo prooxidant state in Werner syndrome (WS): results from three WS patients and two WS heterozygotes. (16036329)
2005
24
Werner syndrome protein associates with gamma H2AX in a manner that depends upon Nbs1. (15733840)
2005
25
Werner syndrome protein--unwinding function to explain disease. (15056797)
2004
26
A possible case of Werner syndrome presenting with multiple cancers. (15513515)
2004
27
Werner syndrome protein, the MRE11 complex and ATR: menage-A -trois in guarding genome stability during DNA replication? (14988932)
2004
28
Werner syndrome protein phosphorylation by abl tyrosine kinase regulates its activity and distribution. (12944467)
2003
29
Inhibition of Werner syndrome helicase activity by benzo[c]phenanthrene diol epoxide dA adducts in DNA is both strand-and stereoisomer-dependent. (12881525)
2003
30
Werner syndrome protein contains three structure-specific DNA binding domains. (14534320)
2003
31
The N-terminal domain of the large subunit of human replication protein A binds to Werner syndrome protein and stimulates helicase activity. (14499497)
2003
32
Preparation of the gene targeted knockout mice for human premature aging diseases, Werner syndrome, and Rothmund-Thomson syndrome caused by the mutation of DNA helicases]. (11979727)
2002
33
Homologous recombination resolution defect in werner syndrome. (12242278)
2002
34
Werner syndrome protein interacts with human flap endonuclease 1 and stimulates its cleavage activity. (11598021)
2001
35
Evidence for a replication function of FFA-1, the Xenopus orthologue of Werner syndrome protein. (11238454)
2001
36
Severe heart valve calcification in a young patient with Werner syndrome. (10739908)
2000
37
The Werner syndrome gene: the molecular basis of RecQ helicase-deficiency diseases. (10782115)
2000
38
WRN or telomerase constructs reverse 4-nitroquinoline 1-oxide sensitivity in transformed Werner syndrome fibroblasts. (10811112)
2000
39
Functional interaction between Ku and the werner syndrome protein in DNA end processing. (10880505)
2000
40
Accelerated methylation of ribosomal RNA genes during the cellular senescence of Werner syndrome fibroblasts. (10973920)
2000
41
Calcaneal osteosarcoma associated with Werner syndrome. A case report with mutation analysis. (11005522)
2000
42
The Werner syndrome protein is a DNA helicase. (9288107)
1997
43
Identification of mutations in DNA polymerase beta mRNAs from patients with Werner syndrome. (7545922)
1994
44
Werner syndrome and biological ageing: a molecular genetic hypothesis. (8357345)
1993
45
Werner Syndrome (20301687)
1993
46
Effect of insulin on the proline transport activity in cultured fibroblasts from patients with Werner syndrome. (1419149)
1992
47
Mutator phenotype of Werner syndrome is characterized by extensive deletions. (2762303)
1989
48
Histone H1 in G1 arrested, senescent, and Werner syndrome fibroblasts. (3909768)
1985
49
A comparison of adult and childhood progerias: Werner syndrome and Hutchinson-Gilford progeria syndrome. (3909767)
1985
50
Systematic growth studies, cocultivation, and cell hybridization studies of Werner syndrome cultured skin fibroblasts. (7327553)
1981

Variations for Werner Syndrome

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UniProtKB/Swiss-Prot genetic disease variations for Werner Syndrome:

64
id Symbol AA change Variation ID SNP ID
1WRNp.Lys125AsnVAR_026588
2WRNp.Lys135GluVAR_026589

Clinvar genetic disease variations for Werner Syndrome:

6 (show all 14)
id Gene Name Type Significance SNP ID Assembly Location
1WRNNM_000553.4(WRN): c.2089-3024A> Gsingle nucleotide variantPathogenicrs281865157GRCh37Chr 8, 30966107: 30966107
2WRNNM_000553.4(WRN): c.2179dupT (p.Cys727Leufs)duplicationPathogenicrs281865158GRCh37Chr 8, 30969221: 30969222
3WRNNM_000553.4(WRN): c.3460-2A> Csingle nucleotide variantPathogenicrs281865159GRCh37Chr 8, 31004878: 31004878
4WRNNM_000553.4(WRN): c.3590delA (p.Asn1197Thrfs)deletionPathogenicrs281865160GRCh37Chr 8, 31007874: 31007874
5WRNNM_000553.4(WRN): c.3913C> T (p.Arg1305Ter)single nucleotide variantPathogenicrs121908446GRCh37Chr 8, 31014977: 31014977
6WRNNM_000553.4(WRN): c.3493C> T (p.Gln1165Ter)single nucleotide variantPathogenicrs121908447GRCh37Chr 8, 31004913: 31004913
7WRNRECQL2, 4-BP DEL, FS1393TERdeletionPathogenic
8WRNNM_000553.4(WRN): c.3139-1G> Csingle nucleotide variantPathogenicrs113993961GRCh37Chr 8, 30999196: 30999196
9WRNNM_000553.4(WRN): c.3915dupA (p.Ala1306Serfs)duplicationPathogenicGRCh37Chr 8, 31014979: 31014979
10WRNNM_000553.4(WRN): c.1105C> T (p.Arg369Ter)single nucleotide variantPathogenicrs17847577GRCh37Chr 8, 30938648: 30938648
11WRNRECQL2, IVS31DS, A-T, +2, FS1158TERsingle nucleotide variantPathogenic
12WRNRECQL2, 1-BP DEL, NT1396deletionPathogenic
13WRNNM_000553.4(WRN): c.1730A> T (p.Lys577Met)single nucleotide variantPathogenicrs121908448GRCh37Chr 8, 30948359: 30948359
14WRNNM_000553.4(WRN): c.375A> T (p.Lys125Asn)single nucleotide variantPathogenicrs387906337GRCh37Chr 8, 30922450: 30922450

Expression for genes affiliated with Werner Syndrome

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Expression patterns in normal tissues for genes affiliated with Werner Syndrome

Search GEO for disease gene expression data for Werner Syndrome.

Pathways for genes affiliated with Werner Syndrome

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Pathways related to Werner Syndrome according to GeneCards/GeneDecks:

(show all 14)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.8WRN, BLM
29.5RPA1, BLM
39.4BLM, RAD54L
4
Show member pathways
Non-homologous end joining37
DNA damage NHEJ mechanisms of DSBs repair60
9.4FEN1, WRN
5
Show member pathways
9.2RPA1, LMNA, BLM
6
Show member pathways
9.2POLB, FEN1
7
Show member pathways
9.1FEN1, RPA1
8
Show member pathways
Homologous recombination37
8.9RAD54L, RPA1, BLM
9
Show member pathways
8.8WRN, FEN1, RPA1
10
Show member pathways
8.8FEN1, POLB, TREX1
11
Show member pathways
Proteasome Degradation37
Immune response Antigen presentation by MHC class I60
8.8RPA1, LMNA, FEN1
12
Show member pathways
8.8RPA1, LMNA, FEN1
13
Show member pathways
8.7RPA1, POLB, FEN1
14
Show member pathways
7.8RPA1, BLM, WRN, FEN1, LMNA, RECQL4

Compounds for genes affiliated with Werner Syndrome

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Compounds related to Werner Syndrome according to GeneCards/GeneDecks:

(show all 13)
idCompoundScoreTop Affiliating Genes
18-oxoguanine449.8POLB, WRN
2polynucleotide449.7POLB, WRN
3phosphonate449.5TREX1, POLB
4camptothecin44 61 1111.4BLM, WRN, RPA1
5hydroxyurea44 50 1111.1RPA1, RECQL4, WRN, BLM
6hydrogen44 2410.0RPA1, GYPA, POLB
7cisplatin44 50 61 1111.5RPA1, POLB, FEN1, WRN
8magnesium44 24 1110.3BLM, WRN, FEN1, POLB, TREX1
9methylmethanesulfonate448.2RPA1, POLB, FEN1, WRN, BLM
10arginine448.2WRN, FEN1, POLB, LMNA, GYPA
11alanine448.1FEN1, POLB, LMNA, GYPA
12oligonucleotide448.0FEN1, POLB, GYPA, RPA1, TREX1
13atp44 288.3BLM, WRN, FEN1, POLB, LMNA, RPA1

GO Terms for genes affiliated with Werner Syndrome

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Cellular components related to Werner Syndrome according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1PML bodyGO:0166059.5RPA1, BLM
2lateral elementGO:0008009.4RPA1, BLM
3male germ cell nucleusGO:0016739.2RPA1, BLM
4nucleoplasmGO:0056548.1WRN, FEN1, POLB, LMNA, RPA1
5nucleolusGO:0057307.2TREX1, BLM, WRN, FEN1, LMNA, RPA1
6nucleusGO:0056346.7BLM, FEN1, POLB, LMNA, RECQL4, RPA1

Biological processes related to Werner Syndrome according to GeneCards/GeneDecks:

(show all 21)
idNameGO IDScoreTop Affiliating Genes
1replication fork processingGO:03129710.0WRN, BLM
2DNA metabolic processGO:0062599.9TREX1, WRN
3DNA duplex unwindingGO:0325089.7BLM, WRN, RECQL4
4nucleotide-excision repair, DNA gap fillingGO:0062979.6POLB, RPA1
5DNA-dependent DNA replicationGO:0062619.6RPA1, POLB
6DNA catabolic process, exonucleolyticGO:0007389.5FEN1, TREX1
7cellular response to DNA damage stimulusGO:0069749.5POLB, WRN, BLM
8DNA strand renaturationGO:0007339.4BLM, RECQL4, RAD54L
9telomere maintenance via semi-conservative replicationGO:0322019.3FEN1, RPA1
10nucleic acid phosphodiester bond hydrolysisGO:0903059.3TREX1, FEN1, WRN
11double-strand break repair via homologous recombinationGO:0007249.2RAD54L, RPA1, BLM
12base-excision repairGO:0062849.2POLB, FEN1, WRN
13telomere maintenance via recombinationGO:0007229.1FEN1, RPA1
14double-strand break repairGO:0063029.1RPA1, FEN1, WRN
15DNA strand elongation involved in DNA replicationGO:0062719.0RPA1, FEN1
16meiotic nuclear divisionGO:0071269.0RAD54L, RPA1
17mitotic cell cycleGO:0002788.8RPA1, LMNA, FEN1
18telomere maintenanceGO:0007238.7RPA1, FEN1, WRN, BLM
19DNA replicationGO:0062608.4WRN, FEN1, RECQL4, RPA1, TREX1
20DNA recombinationGO:0063108.2TREX1, RAD54L, RPA1, RECQL4, WRN, BLM
21DNA repairGO:0062817.3BLM, FEN1, POLB, RECQL4, RPA1, RAD54L

Molecular functions related to Werner Syndrome according to GeneCards/GeneDecks:

(show all 13)
idNameGO IDScoreTop Affiliating Genes
1four-way junction helicase activityGO:00937810.0WRN, BLM
2G-quadruplex DNA bindingGO:0518809.9WRN, BLM
33-5 exonuclease activityGO:0084089.9TREX1, WRN
4ATP-dependent DNA helicase activityGO:0040039.8BLM, WRN
5ATP-dependent 3-5 DNA helicase activityGO:0431409.7RECQL4, WRN, BLM
6bubble DNA bindingGO:0004059.7RECQL4, WRN, BLM
7exonuclease activityGO:0045279.5FEN1, WRN
8helicase activityGO:0043869.4RAD54L, WRN, BLM
9annealing helicase activityGO:0363109.3BLM, RECQL4, RAD54L
10single-stranded DNA bindingGO:0036979.3BLM, RPA1, TREX1
11manganese ion bindingGO:0301459.3FEN1, WRN
12damaged DNA bindingGO:0036848.9FEN1, POLB
13protein bindingGO:0055157.0RAD54L, RPA1, LMNA, POLB, FEN1, WRN

Products for genes affiliated with Werner Syndrome

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  • Antibodies
  • Proteins
  • Lysates

Sources for Werner Syndrome

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet