WRN
MCID: WRN001
MIFTS: 70

Werner Syndrome (WRN)

Categories: Bone diseases, Cancer diseases, Eye diseases, Fetal diseases, Genetic diseases, Rare diseases, Skin diseases

Aliases & Classifications for Werner Syndrome

MalaCards integrated aliases for Werner Syndrome:

Name: Werner Syndrome 57 12 24 53 25 59 75 37 29 13 55 6 44 15 40 73
Werner's Syndrome 12 76 53 25
Adult Progeria 12 25 59
Wrn 57 53 75
Ws 12 25 59
Adult Premature Ageing Syndrome 12
Adult Premature Aging Syndrome 25
Werners Syndrome 25
Wes 76

Characteristics:

Orphanet epidemiological data:

59
werner syndrome
Inheritance: Autosomal recessive; Prevalence: 1-9/1000000 (Europe),1-9/100000 (Japan),1-9/100000; Age of onset: Adolescent,Adult;

OMIM:

57
Inheritance:
autosomal recessive


HPO:

32
werner syndrome:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Werner Syndrome

NIH Rare Diseases : 53 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.

MalaCards based summary : Werner Syndrome, also known as werner's syndrome, is related to atypical werner syndrome and spondylosis. An important gene associated with Werner Syndrome is WRN (Werner Syndrome RecQ Like Helicase), and among its related pathways/superpathways are Cell Cycle, Mitotic and DNA Double-Strand Break Repair. The drugs Alimta and Aloxi have been mentioned in the context of this disorder. Affiliated tissues include skin, heart and bone, and related phenotypes are hypertension and cataract

Disease Ontology : 12 An autosomal recessive disease characterized by premature aging and age-related phenotypes such as atherosclerosis, arteriosclerosis, cataracts, osteoporosis, soft tissue calcification, premature thinning, graying, and loss of hair, as well as a high incidence of some types of cancers. In 90% of the cases it is that has material basis in mutations in the WRN gene, on chromosome 8.

Genetics Home Reference : 25 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.

UniProtKB/Swiss-Prot : 75 Werner syndrome: A rare autosomal recessive progeroid syndrome characterized by the premature onset of multiple age-related disorders, including atherosclerosis, cancer, non-insulin-dependent diabetes mellitus, ocular cataracts and osteoporosis. The major cause of death, at a median age of 47, is myocardial infarction.

Wikipedia : 76 Jean Baptiste Point du Sable (before 1750 ? 1818) is honored as the first permanent non-Native-American... more...

Description from OMIM: 277700
GeneReviews: NBK1514

Related Diseases for Werner Syndrome

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

(show top 50) (show all 1796)
# Related Disease Score Top Affiliating Genes
1 atypical werner syndrome 34.0 LMNA WRN
2 spondylosis 32.2 HELLS WRN
3 adermatoglyphia 31.8 BLM WRN
4 acquired generalized lipodystrophy 31.6 LMNA RECQL5 WRN
5 nijmegen breakage syndrome 31.5 MRE11 NBN WRN
6 rapadilino syndrome 31.4 WRN RECQL5 RECQL4 RECQL HELLS
7 baller-gerold syndrome 31.3 WRN RECQL5 RECQL4 RECQL
8 ataxia-telangiectasia 29.6 MRE11 NBN RPA1
9 xeroderma pigmentosum, variant type 29.6 FEN1 HELLS RECQL RPA1
10 rothmund-thomson syndrome 29.4 WRN RECQL5 RECQL4 RECQL HELLS BLM
11 bloom syndrome 29.4 BLM FEN1 HELLS RECQL RECQL4 RECQL5
12 fanconi anemia, complementation group a 28.8 WRN NBN MRE11 LMNA HELLS FEN1
13 williams-beuren syndrome 12.2
14 waardenburg syndrome, type 2e 11.8
15 colorectal cancer 11.6
16 disease of mental health 11.6
17 waardenburg's syndrome 11.6
18 waardenburg syndrome, type 3 11.5
19 hutchinson-gilford progeria syndrome 11.4
20 depression 11.4
21 obsessive-compulsive disorder 11.4
22 aicardi-goutieres syndrome 11.4
23 jejunal cancer 11.4
24 phenylketonuria 11.2
25 apnea, obstructive sleep 11.2
26 wernicke encephalopathy 11.2
27 mthfr gene variant 11.2
28 waardenburg syndrome, type 2b 11.1
29 waardenburg syndrome, type 2c 11.1
30 waardenburg syndrome, type 2d 11.1
31 waardenburg syndrome, type 4b 11.1
32 waardenburg syndrome, type 4c 11.1
33 adverse events of 5-alpha-reductase inhibitors 11.1
34 flynn-aird syndrome 11.1
35 soft tissue sarcoma 11.1
36 myocardial infarction 11.1
37 xfe progeroid syndrome 11.1
38 fanconi anemia, complementation group r 11.1
39 autosomal genetic disease 11.1
40 uterus bicornis bicollis with partial vaginal septum and unilateral hematocolpos with ipsilateral renal agenesis 11.0
41 waardenburg syndrome, type 2a 11.0
42 waardenburg syndrome, type 4a 11.0
43 glutaric acidemia i 10.9
44 bosma arhinia microphthalmia syndrome 10.9
45 charcot-marie-tooth disease, axonal, type 2p 10.9
46 color blindness 10.9
47 methylmalonyl-coenzyme a mutase deficiency 10.9
48 morgellons 10.9
49 nodular regenerative hyperplasia 10.9
50 autosomal recessive disease 10.9

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



Diseases related to Werner Syndrome

Symptoms & Phenotypes for Werner Syndrome

Symptoms via clinical synopsis from OMIM:

57
Endocrine Features:
diabetes mellitus
hypogonadism

Skeletal:
osteoporosis

Head And Neck Eyes:
retinal degeneration
cataracts

Head And Neck Nose:
beaked nose

Head And Neck Face:
prematurely aged face

Skin Nails Hair Hair:
thin, sparse, gray
premature balding

Laboratory Abnormalities:
variegated translocation mosaicism in cultured fibroblasts
poor mitogenic response to growth factors

Growth Height:
short stature

Skin Nails Hair Skin:
subcutaneous calcification
scleroderma-like skin, especially of face and distal extremities
ulceration

Cardiovascular Heart:
premature arteriosclerosis

Growth Other:
stocky trunk

Skeletal Limbs:
slender limbs

Neoplasia:
malignancy in approximately 10%
osteosarcoma and meningioma especially


Clinical features from OMIM:

277700

Human phenotypes related to Werner Syndrome:

59 32 (show top 50) (show all 66)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hypertension 59 32 occasional (7.5%) Occasional (29-5%) HP:0000822
2 cataract 59 32 hallmark (90%) Very frequent (99-80%) HP:0000518
3 type ii diabetes mellitus 59 32 frequent (33%) Frequent (79-30%) HP:0005978
4 joint stiffness 59 32 occasional (7.5%) Occasional (29-5%) HP:0001387
5 short stature 59 32 hallmark (90%) Very frequent (99-80%) HP:0004322
6 abnormality of retinal pigmentation 59 32 frequent (33%) Frequent (79-30%) HP:0007703
7 osteoporosis 59 32 hallmark (90%) Very frequent (99-80%) HP:0000939
8 laryngomalacia 59 32 occasional (7.5%) Occasional (29-5%) HP:0001601
9 lipoatrophy 59 32 hallmark (90%) Very frequent (99-80%) HP:0100578
10 skeletal muscle atrophy 59 32 frequent (33%) Frequent (79-30%) HP:0003202
11 myocardial infarction 59 32 frequent (33%) Frequent (79-30%) HP:0001658
12 hyperkeratosis 59 32 frequent (33%) Frequent (79-30%) HP:0000962
13 abnormality of the thorax 59 32 hallmark (90%) Very frequent (99-80%) HP:0000765
14 congestive heart failure 59 32 frequent (33%) Frequent (79-30%) HP:0001635
15 lack of skin elasticity 59 32 frequent (33%) Frequent (79-30%) HP:0100679
16 secondary amenorrhea 59 32 occasional (7.5%) Occasional (29-5%) HP:0000869
17 skin ulcer 59 32 frequent (33%) Frequent (79-30%) HP:0200042
18 hypogonadism 59 32 hallmark (90%) Very frequent (99-80%) HP:0000135
19 premature graying of hair 59 32 hallmark (90%) Very frequent (99-80%) HP:0002216
20 small hand 59 32 frequent (33%) Frequent (79-30%) HP:0200055
21 telangiectasia of the skin 59 32 frequent (33%) Frequent (79-30%) HP:0100585
22 abnormality of the cerebral vasculature 59 32 occasional (7.5%) Occasional (29-5%) HP:0100659
23 slender build 59 32 hallmark (90%) Very frequent (99-80%) HP:0001533
24 narrow face 59 32 frequent (33%) Frequent (79-30%) HP:0000275
25 aplasia/hypoplasia of the skin 59 32 frequent (33%) Frequent (79-30%) HP:0008065
26 sarcoma 59 32 occasional (7.5%) Occasional (29-5%) HP:0100242
27 abnormality of the voice 59 32 hallmark (90%) Very frequent (99-80%) HP:0001608
28 decreased fertility 59 32 frequent (33%) Frequent (79-30%) HP:0000144
29 sparse scalp hair 59 32 hallmark (90%) Very frequent (99-80%) HP:0002209
30 increased bone mineral density 59 32 frequent (33%) Frequent (79-30%) HP:0011001
31 convex nasal ridge 59 32 hallmark (90%) Very frequent (99-80%) HP:0000444
32 breast carcinoma 59 32 occasional (7.5%) Occasional (29-5%) HP:0003002
33 ovarian neoplasm 59 32 occasional (7.5%) Occasional (29-5%) HP:0100615
34 meningioma 59 32 occasional (7.5%) Occasional (29-5%) HP:0002858
35 pulmonary artery stenosis 59 32 frequent (33%) Frequent (79-30%) HP:0004415
36 white forelock 59 32 hallmark (90%) Very frequent (99-80%) HP:0002211
37 gastrointestinal carcinoma 59 32 occasional (7.5%) Occasional (29-5%) HP:0002672
38 neoplasm of the lung 59 32 occasional (7.5%) Occasional (29-5%) HP:0100526
39 neoplasm of the small intestine 59 32 occasional (7.5%) Occasional (29-5%) HP:0100833
40 chondrocalcinosis 59 32 frequent (33%) Frequent (79-30%) HP:0000934
41 spontaneous abortion 59 32 occasional (7.5%) Occasional (29-5%) HP:0005268
42 atherosclerosis 59 32 frequent (33%) Frequent (79-30%) HP:0002621
43 squamous cell carcinoma 59 32 occasional (7.5%) Occasional (29-5%) HP:0002860
44 rocker bottom foot 59 32 frequent (33%) Frequent (79-30%) HP:0001838
45 thyroid carcinoma 59 32 occasional (7.5%) Occasional (29-5%) HP:0002890
46 renal neoplasm 59 32 occasional (7.5%) Occasional (29-5%) HP:0009726
47 insulin resistance 59 32 frequent (33%) Frequent (79-30%) HP:0000855
48 pili torti 59 32 hallmark (90%) Very frequent (99-80%) HP:0003777
49 abnormal hair whorl 59 32 hallmark (90%) Very frequent (99-80%) HP:0010721
50 subcutaneous calcification 59 32 frequent (33%) Frequent (79-30%) HP:0007618

GenomeRNAi Phenotypes related to Werner Syndrome according to GeneCards Suite gene sharing:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased viability with MLN4924 (a NAE inhibitor) GR00250-A-3 9.7 BLM EXO1 FEN1 MRE11 NBN RECQL
2 Synthetic lethal with MLN4924 (a NAE inhibitor) GR00250-A-1 9.7 BLM EXO1 FEN1 MRE11 NBN RPA1
3 Synthetic lethal with MLN4924 (a NAE inhibitor) GR00250-A-2 9.7 BLM EXO1 FEN1 MRE11 NBN RPA1

MGI Mouse Phenotypes related to Werner Syndrome:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 10.38 BLM DHX9 EXO1 FEN1 HELLS LMNA
2 hematopoietic system MP:0005397 10.17 BLM DHX9 EXO1 FEN1 HELLS LMNA
3 immune system MP:0005387 10.1 BLM DHX9 EXO1 FEN1 HELLS LMNA
4 growth/size/body region MP:0005378 10.07 BLM FEN1 HELLS LMNA NBN POLB
5 endocrine/exocrine gland MP:0005379 10.06 EXO1 FEN1 HELLS LMNA NBN POLB
6 embryo MP:0005380 10.03 BLM DHX9 FEN1 HELLS MRE11 NBN
7 digestive/alimentary MP:0005381 9.93 FEN1 LMNA POLB RECQL4 WRN XRCC5
8 mortality/aging MP:0010768 9.8 BLM DHX9 EXO1 FEN1 HELLS LMNA
9 integument MP:0010771 9.7 BLM HELLS LMNA POLB RECQL4 VCP
10 neoplasm MP:0002006 9.28 BLM EXO1 FEN1 MRE11 NBN RECQL4

Drugs & Therapeutics for Werner Syndrome

FDA approved drugs:

(show top 50) (show all 80)
# Drug Name Active Ingredient(s) 18 Company Approval Date
1
Alimta 18 49 PEMETREXED (also Pemetrexed Disodium) Eli Lilly February 2004
2
Aloxi 18 49 PALONOSETRON (hydrochloride) MGI Pharma, Helsinn Healthcare August 2003
3
Arranon 18 49 NELARABINE GlaxoSmithKline October 2005
4
Arzerra 18 49 OFATUMUMAB GlaxoSmithKline October 2009
5
Beleodaq 18 49 BELINOSTAT Spectrum Pharmaceuticals July 2014
6
Blincyto 18 49 BLINATUMOMAB Amgen December 2014
7
Bosulif 18 49 BOSUTINIB MONOHYDRATE Pfizer September 2012
8
Cervarix 18 49 Human Papillomavirus Bivalent (Types 16 and 18) Vaccine, Recombinant GlaxoSmithKline October 2009
9
Clolar 18 49 CLOFARABINE Genzyme December, 2004
10
Erwinaze 18 49 asparaginase Erwinia chrysanthemi Eusa Pharma November of 2011
11
Evista 18 49 RALOXIFENE HYDROCHLORIDE Eli Lilly September 2007
12
Farydak 18 49 PANOBINOSTAT LACTATE Novartis February 2015
13
Feridex I.V. 18 FERUMOXIDES Advanced Magnetics February 1996
14
Gardasil 18 49 quadrivalent human papillomavirus (types 6, 11, 16, 18) recombinant vaccine Merck June 2006
15
Kyprolis 18 49 CARFILZOMIB Onyx Pharmaceuticals July 2012
16
Picato gel 18 INGENOL MEBUTATE LEO Pharma January 2012
17
Premarin 18 ESTROGENS CONJUGATED Wyeth July of 2003
18
Stivarga 18 49 REGORAFENIB Bayer/ Bayer HealthCare Pharmaceuticals February 2013/ September 2012
19
Sutent 18 49 SUNITINIB MALATE Pfizer May 2011/ January 2006
20
Synribo 18 49 OMACETAXINE MEPESUCCINATE Teva Pharmaceutical October 2012
21
Tafinlar 18 49 DABRAFENIB MESYLATE GlaxoSmithKline May 2013
22
Torisel 18 49 TEMSIROLIMUS Wyeth May 2007
23
Tykerb 18 49 LAPATINIB DITOSYLATE GlaxoSmithKline March 2007
24
UltraJect 18 MORPHINE SULFATE Mallinckrodt Group August 1996
25
Velcade 18 49 BORTEZOMIB Millennium Pharmaceuticals May 2003
26
Visipaque (270 &320) 18 IODIXANOL Nycomed April 1996
27
Xalkori 18 49 CRIZOTINIB Pfizer August of 2011
28
Yervoy 18 49 IPILIMUMAB Bristol-Myers Squibb March 2011
29
Zofran 18 49 ONDANSETRON HYDROCHLORIDE GlaxoSmithKline January 1999/ April 1998
30
Zuplenz 18 ONDANSETRON Strativa Pharmaceuticals July 2010
31
Advair 18 FLUTICASONE PROPIONATE; SALMETEROL XINAFOATE GlaxoSmithKline August 2000
32
Alvesco 18 CICLESONIDE Nycomed January 2008
33
Arcapta 18 INDACATEROL MALEATE Novartis July 2011
34
Augmentin 18 AMOXICILLIN; CLAVULANATE POTASSIUM SmithKline Beecham February 1996
35
Azmacort 18 TRIAMCINOLONE ACETONIDE Rhone Poulenc Rorer November 1996
36
Breathe Right 18 CNS June 1996
37
Cafcit Injection 18 CAFFEINE CITRATE Roxane Laboratories September 1999
38
Cedax 18 CEFTIBUTEN DIHYDRATE Schering-Plough December 1995
39
Cefazolin and Dextrose USP 18 CEFAZOLIN SODIUM B Braun Medical July 2000
40
Claritin RediTabs 18 LORATADINE Schering-Plough January 1997
41
Claritin-D 24 Hour Extended Release Tablets 18 LORATADINE; PSEUDOEPHEDRINE SULFATE Schering-Plough August 1996
42
Covera-HS 18 VERAPAMIL HYDROCHLORIDE GD Searle, Alza January 1996
43
Daliresp 18 ROFLUMILAST Forest Pharmaceuticals February 2011
44
Dulera 18 FORMOTEROL FUMARATE; MOMETASONE FUROATE Merck June 2010
45
Esbriet 18 PIRFENIDONE InterMune October 2014
46
Grastek 18 Timothy Grass Pollen Allergen Extract Merck April 2014
47
Iressa 18 GEFITINIB AstraZeneca May 2003
48
Kalydeco 18 IVACAFTOR Vertex Pharmaceuticals January of 2012
49
Letairis 18 AMBRISENTAN Gilead June 2007
50
Nucala 18 MEPOLIZUMAB GlaxoSmithKline November 2015

Drugs for Werner Syndrome (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 435)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Naltrexone Approved, Investigational, Vet_approved Phase 4 16590-41-3 5360515
2
Furosemide Approved, Vet_approved Phase 4 54-31-9 3440
3
Levobupivacaine Approved, Investigational Phase 4,Not Applicable 27262-47-1 92253
4
Esomeprazole Approved, Investigational Phase 4 161796-78-7, 119141-88-7 4594 9579578
5
Pantoprazole Approved Phase 4 102625-70-7 4679
6
Dopamine Approved Phase 4,Phase 3,Phase 2 51-61-6, 62-31-7 681
7
Bupivacaine Approved, Investigational Phase 4,Phase 3,Phase 1,Not Applicable 2180-92-9, 38396-39-3 2474
8
Zoledronic acid Approved Phase 4 118072-93-8 68740
9
Prednisone Approved, Vet_approved Phase 4,Phase 2 53-03-2 5865
10
Warfarin Approved Phase 4 81-81-2 6691 54678486
11
Apixaban Approved Phase 4,Phase 3 503612-47-3 10182969
12
Heparin Approved, Investigational Phase 4 9005-49-6 772 46507594
13
Phytonadione Approved, Investigational Phase 4 84-80-0 4812 5284607
14
Acetaminophen Approved Phase 4,Phase 1 103-90-2 1983
15
Morphine Approved, Investigational Phase 4,Not Applicable 57-27-2 5288826
16
Ropivacaine Approved Phase 4 84057-95-4 175805 71273
17
Verapamil Approved Phase 4 52-53-9 2520
18
Menadione Approved, Nutraceutical Phase 4 58-27-5 4055
19
Serine Approved, Nutraceutical Phase 4,Phase 3 56-45-1 5951
20 Narcotic Antagonists Phase 4,Phase 2,Phase 1,Not Applicable
21 Narcotics Phase 4,Phase 2,Phase 1,Not Applicable
22 Peripheral Nervous System Agents Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable
23 Sodium Potassium Chloride Symporter Inhibitors Phase 4
24 Natriuretic Agents Phase 4
25 diuretics Phase 4
26 Gastrointestinal Agents Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable
27 Protective Agents Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable
28 Neurotransmitter Agents Phase 4,Phase 3,Phase 2,Phase 1
29 Micronutrients Phase 4,Phase 3,Not Applicable
30 Trace Elements Phase 4,Phase 3,Not Applicable
31 Vitamins Phase 4,Not Applicable
32 Analgesics, Opioid Phase 4,Phase 2,Phase 1,Not Applicable
33 Analgesics Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable
34 Antacids Phase 4
35 Anti-Ulcer Agents Phase 4
36 Proton Pump Inhibitors Phase 4,Not Applicable
37 Autonomic Agents Phase 4,Phase 3,Phase 2
38 Cardiotonic Agents Phase 4
39 Sympathomimetics Phase 4
40 Dopamine Agents Phase 4,Phase 3,Phase 2
41 Anesthetics, Local Phase 4,Phase 3,Phase 1
42 Central Nervous System Depressants Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable
43 Anesthetics Phase 4,Phase 3,Phase 1,Not Applicable
44 Hormones Phase 4,Phase 3,Phase 2,Not Applicable
45 Hormone Antagonists Phase 4,Phase 3,Phase 2,Not Applicable
46 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 4,Phase 3,Phase 2,Not Applicable
47 Bone Density Conservation Agents Phase 4,Phase 3,Not Applicable
48 Anti-Inflammatory Agents Phase 4,Phase 3,Phase 2
49 Antineoplastic Agents, Hormonal Phase 4,Phase 3,Phase 2
50 glucocorticoids Phase 4,Phase 2

Interventional clinical trials:

(show top 50) (show all 300)
# Name Status NCT ID Phase Drugs
1 Low Dose Naltrexone for Treatment of Pain in Patients With Fibromyalgia - Effect Via a Central Mechanism? Unknown status NCT02806440 Phase 4 Low dose naltrexone;Placebo
2 Investigation of Gender Specificity of the Effects of Furosemide in Healthy Female and Male Volunteers Unknown status NCT01156220 Phase 4 Furosemide;aminohippurate sodium
3 Balloon Angioplasty Versus Xpert Stent in CLI Patients XXS Study Unknown status NCT00546845 Phase 4
4 Radiofrequency Ablation for Malignant Biliary Obstruction Completed NCT01758341 Phase 4
5 Study to Assess Management Strategies for the Use of Esomeprazole (Nexium) in Helicobacter Pylori Infected Patients Completed NCT00574925 Phase 4 Esomeprazole
6 Comparison of the Classical Healing Concept With the Complete Remission Concept After Treatment With Pantoprazole in Adult Patients With Erosive GERD (Gastroesophageal Reflux Disease) (BY1023/M3-342) Completed NCT00325676 Phase 4 Pantoprazole
7 Donor Dopamine and Initial Graft Function Completed NCT00115115 Phase 4 Dopamine infusion to brain dead organ donors
8 Pain Reduction After Cholecystectomy Completed NCT01199406 Phase 4 Levobupivacaine
9 Pacing of the Atria in Sick Sinus Syndrome Trial Preventive Strategies for Atrial Fibrillation Completed NCT00161538 Phase 4
10 Open-label Trial on the Effect of I.V. Zoledronic Acid 4 mg on Bone Density in Hormone Sensitive Prostate Cancer Patients With Bone Metastasis Completed NCT00035997 Phase 4 Zometa
11 Study to Compare the Efficacy of Tocilizumab With or Without Glucocorticoid Discontinuation in Rheumatoid Arthritis Participants Completed NCT02573012 Phase 4 Placebo matched to prednisone;Prednisone
12 Study Of The Blood Thinner, Apixaban, For Patients Who Have An Abnormal Heart Rhythm (Atrial Fibrillation) And Expected To Have Treatment To Put Them Back Into A Normal Heart Rhythm (Cardioversion) Completed NCT02100228 Phase 4 Apixaban;Parenteral heparin and/or oral Vitamin K antagonist
13 Biomarker Guided Treatment in Gynaecological Cancer Recruiting NCT02543710 Phase 4 Biomarker guided weekly taxane treatment in endometrial/ ovarian cancer
14 TQL-block for Laparoscopic Hemicolectomy Recruiting NCT03570541 Phase 4 Ropivacaine;Acetaminophen;Morphine;Saline
15 Prevention of Silent Cerebral Thromboembolism by Oral Anticoagulation With Dabigatran After Pulmonary Vein Isolation for Atrial Fibrillation Recruiting NCT02067182 Phase 4 Dabigatran
16 Short-term Stenting Versus Balloon Dilatation for Dominant Strictures in Primary Sclerosing Cholangitis Unknown status NCT01398917 Phase 3
17 Multi Centre Trial of DSMM for Newly Diagnosed Multiple Myeloma up to 60 Years Unknown status NCT00546988 Phase 3
18 F18PET/CT Versus TC-MDP Scanning to Detect Bone Mets Unknown status NCT00882609 Phase 3
19 Comparing Desflurane to Sevoflurane for the Effect on Recovery Time in Patients Undergoing Urological Cystoscope Surgery Completed NCT01219881 Phase 3 Desflurane;Sevoflurane
20 Bladder Scan of Residual Urine With New Catheter Completed NCT01048541 Phase 2, Phase 3
21 Trigger-point Blockade in Persistent Pain After Laparoscopical Groin Hernia Repair Completed NCT02065804 Phase 3 Bupivacaine
22 Trigger-point Blockade in Persistent Pain After Open Groin Hernia Repair Completed NCT02065219 Phase 3 Bupivacaine;Placebo
23 Bosentan for Mild Pulmonary Vascular Disease in Asd Patients. Completed NCT01218607 Phase 3 Bosentan;Placebo
24 Comparing Two Forms of Head Immobilization for Stereotactic Radiotherapy Completed NCT00328510 Phase 3
25 Efficacy and Safety Trial of Transcranial Laser Therapy Within 24 Hours From Stroke Onset (NEST-3) Completed NCT01120301 Phase 3
26 Gemcitabine With or Without Capecitabine in Treating Patients With Advanced Pancreatic Cancer Completed NCT00030732 Phase 3 Gemcitabine + Capecitabine;Gemcitabine alone
27 Venticute in Patients With Pneumonia or Aspiration of Gastric Contents and Intubation/Ventilation/Oxygenation Impairment (BY2001/M1-007) Completed NCT00074906 Phase 3 Venticute
28 Study About Efficacy and Safety to Treat Multi-System-Atrophy Completed NCT00146809 Phase 3 Minocyline
29 Open-label, Follow-up Study of Oral Testosterone Undecanoate in Hypogonadal Men Completed NCT01699178 Phase 3 Oral testosterone undecanoate;Transdermal testosterone gel (AndroGel)
30 Efficacy, Safety, Tolerability of Neramexane in Patients With Subjective Tinnitus Completed NCT00955799 Phase 3 Neramexane mesylate;Placebo
31 Efficacy, Safety and Tolerability of Neramexane in Patients With Subjective Tinnitus Completed NCT00739635 Phase 3 Neramexane mesylate;Placebo
32 Safety and Efficacy Trial of Oral Testosterone Undecanoate (TU) in Hypogonadal Men Completed NCT01403116 Phase 3 Oral testosterone undecanoate;topical testosterone gel
33 Monoclonal Antibody Therapy (Rencarex®) in Treating Patients Who Have Undergone Surgery for Non-metastatic Kidney Cancer Completed NCT00087022 Phase 3
34 Study of AA4500 in the Treatment of Peyronie's Disease Completed NCT01221623 Phase 3
35 Telemedical Interventional Management in Heart Failure II Completed NCT01878630 Phase 3
36 Prostate Cancer Prevention Study for Men With High Grade PIN (Prostatic Intraepithelial Neoplasia) Completed NCT00106691 Phase 3 Toremifene 20 mg;Placebo
37 Study of Atrasentan in Men With Non-Metastatic, Hormone-Refractory Prostate Cancer Completed NCT00036556 Phase 3 Atrasentan
38 Study to Investigate Efficacy and Safety of a New Oral Contraceptive Completed NCT00185289 Phase 3 EV/DNG (Qlaira, BAY86-5027, SH T00658K)
39 Efficacy and Long-Term Safety of Vildagliptin as Add-on Therapy to Metformin in Patients With Type 2 Diabetes Completed NCT00860288 Phase 2, Phase 3 Vildagliptin;Metformin;Placebo;Sitagliptin
40 Comparison of Insulin Alone to Insulin With Metformin to Treat Gestational Diabetes Mellitus Recruiting NCT03651531 Phase 3 Insulin;Metformin
41 Superiority of Newly Developed Over Basic Echinacea Formulations for the Treatment of Respiratory Tract Infections Recruiting NCT03812900 Phase 2, Phase 3 Echinacea purpurea alcoholic extract
42 Danish Cardiogenic Shock Trial Recruiting NCT01633502 Phase 3
43 BAMI. The Effect of Intracoronary Reinfusion of Bone Marrow-derived Mononuclear Cells(BM-MNC) on All Cause Mortality in Acute Myocardial Infarction Recruiting NCT01569178 Phase 3
44 Diet and Physical Activity Change or Usual Care in Improving Progression-Free Survival in Patients With Previously Treated Stage II, III, or IV Ovarian, Fallopian Tube, or Primary Peritoneal Cancer Recruiting NCT00719303 Phase 3
45 Radiation Therapy Regimens in Treating Patients With Limited-Stage Small Cell Lung Cancer Receiving Cisplatin and Etoposide Recruiting NCT00632853 Phase 3 cisplatin;etoposide;carboplatin
46 Cediranib Maleate and Olaparib or Standard Chemotherapy in Treating Patients With Recurrent Platinum-Resistant or -Refractory Ovarian, Fallopian Tube, or Primary Peritoneal Cancer Recruiting NCT02502266 Phase 2, Phase 3 Cediranib Maleate;Olaparib;Paclitaxel;Pegylated Liposomal Doxorubicin Hydrochloride;Topotecan Hydrochloride
47 EMPagliflozin outcomE tRial in Patients With chrOnic heaRt Failure With Reduced Ejection Fraction (EMPEROR-Reduced) Recruiting NCT03057977 Phase 3 Empagliflozin;Placebo
48 EMPagliflozin outcomE tRial in Patients With chrOnic heaRt Failure With Preserved Ejection Fraction (EMPEROR-Preserved) Recruiting NCT03057951 Phase 3 Empagliflozin;Placebo
49 Double Blind Placebo Controlled Controlled Study of Adjuvant MEDI4736 In Completely Resected NSCLC Recruiting NCT02273375 Phase 3 MEDI4736;Placebo
50 Apixaban for Treatment of Embolic Stroke of Undetermined Source Recruiting NCT02427126 Phase 3 Apixaban;Aspirin

Search NIH Clinical Center for Werner Syndrome

Cochrane evidence based reviews: werner syndrome

Genetic Tests for Werner Syndrome

Genetic tests related to Werner Syndrome:

# Genetic test Affiliating Genes
1 Werner Syndrome 29 WRN

Anatomical Context for Werner Syndrome

MalaCards organs/tissues related to Werner Syndrome:

41
Skin, Heart, Bone, Lung, Liver, Thyroid, Kidney

Publications for Werner Syndrome

Articles related to Werner Syndrome:

(show top 50) (show all 753)
# Title Authors Year
1
Werner syndrome: a rare mutation. ( 29876830 )
2018
2
Werner syndrome: a rare cause of osteoporosis in a young female. ( 29878212 )
2018
3
Reduction of Werner Syndrome Protein Enhances G:C a89 A:T Transition by O<sup>6</sup>-Methylguanine in Human Cells. ( 29616805 )
2018
4
Primary Bullous Keratopathy in a Patient With Werner Syndrome Treated With Corneal Transplant. ( 29534662 )
2018
5
Vitamin C alters the amount of specific endoplasmic reticulum associated proteins involved in lipid metabolism in the liver of mice synthesizing a nonfunctional Werner syndrome (Wrn) mutant protein. ( 29494634 )
2018
6
Folate modulates guanine-quadruplex frequency and DNA damage in Werner syndrome. ( 29412869 )
2018
7
A novel WRN mutation identified in a patient with Werner syndrome and acute generalized exanthematous pustulosis. ( 29952303 )
2018
8
Nonfunctional mutant Wrn protein leads to neurological deficits, neuronal stress, microglial alteration, and immune imbalance in a mouse model of Werner syndrome. ( 29908963 )
2018
9
The ophthalmic diagnosis and management of four siblings with Werner syndrome. ( 29705892 )
2018
10
Differential stem cell aging kinetics in Hutchinson-Gilford progeria syndrome and Werner syndrome. ( 29476423 )
2018
11
Werner syndrome (WRN) gene variants and their association with altered function and age-associated diseases. ( 29146545 )
2018
12
Progeria (Werner Syndrome) ( 29939574 )
2018
13
Cerebral Haemorrhage in a Young Patient With Atypical Werner Syndrome Due to Mutations in LMNA. ( 30123186 )
2018
14
Management of cataract in Werner syndrome. ( 30127165 )
2018
15
Successful Cord Blood Transplantation in a Werner Syndrome Patient with High-risk Myelodysplastic Syndrome. ( 30146558 )
2018
16
A De Novo POLD1 Mutation Associated With Mandibular Hypoplasia, Deafness, Progeroid Features, and Lipodystrophy Syndrome in a Family With Werner Syndrome. ( 30023403 )
2018
17
Werner syndrome: quantitative assessment of skin aging. ( 30122969 )
2018
18
Biallelic WRN Mutations in Newly Identified Japanese Werner Syndrome Patients. ( 30140198 )
2018
19
Ectopic hTERT expression facilitates reprograming of fibroblasts derived from patients with Werner syndrome as a WS cellular model. ( 30206203 )
2018
20
Werner Syndrome Protein and DNA Replication. ( 30400178 )
2018
21
Werner syndrome (WRN) DNA helicase and base excision repair (BER) factors maintain endothelial homeostasis. ( 30413344 )
2018
22
A case report of Werner's syndrome with bilateral juvenile cataracts. ( 30107835 )
2018
23
Accelerated epigenetic aging in Werner syndrome. ( 28377537 )
2017
24
Werner Syndrome and Diabetes Mellitus Accompanied by Adrenal Cortex Cancer. ( 28768969 )
2017
25
Cognitive deficit in hippocampal-dependent tasks in Werner syndrome mouse model. ( 28119126 )
2017
26
The Relationship between Werner Syndrome and Sinonasal Malignant Melanoma: Two Sibling Cases of Werner Syndrome with Malignant Melanoma. ( 28717528 )
2017
27
Scratching the Surface of Werner Syndrome and Human Ageing. ( 29456476 )
2017
28
Transcatheter aortic valve replacement in a patient with Werner syndrome. ( 28631398 )
2017
29
Werner syndrome: a model for sarcopenia due to accelerated aging. ( 28738022 )
2017
30
Do you know this syndrome? Werner syndrome. ( 28538897 )
2017
31
Recent Advances in Understanding Werner Syndrome. ( 29043077 )
2017
32
Residues in the RecQ C-terminal Domain of the Human Werner Syndrome Helicase are Involved in Unwinding G-quadruplex DNA. ( 28069813 )
2017
33
A novel splice-site mutation of WRN (c.IVS28+2T&amp;gt;C) identified in a consanguineous family with Werner Syndrome. ( 28440507 )
2017
34
Uncommon cause of cirrhosis-A case of Werner syndrome with a novel WRN mutation. ( 28795391 )
2017
35
Nailfold scleroderma-like capillary abnormalities in Werner syndrome (adult progeria). ( 28466674 )
2017
36
Genome-wide DNA methylation analysis in blood cells from patients with Werner syndrome. ( 28861129 )
2017
37
Case of Werner syndrome complicated by adrenal insufficiency due to hypothalamic dysfunction. ( 28240455 )
2017
38
The Werner Syndrome Helicase Coordinates Sequential Strand Displacement and FEN1-Mediated Flap Cleavage during Polymerase I' Elongation. ( 27849570 )
2017
39
Femoral osteoporosis is more common than lumbar osteoporosis in patients with Werner syndrome. ( 28508498 )
2017
40
Homozygosity for the WRN Helicase-Inactivating Variant, R834C, does not confer a Werner syndrome clinical phenotype. ( 28276523 )
2017
41
Recent Trends in WRN Gene Mutation Patterns in Individuals with Werner Syndrome. ( 28394436 )
2017
42
Werner syndrome through the lens of tissue and tumour genomics. ( 27559010 )
2016
43
The effect of RO3201195 and a pyrazolyl ketone P38 MAPK inhibitor library on the proliferation of Werner syndrome cells. ( 26611938 )
2016
44
Improved Glycemic Control and Vascular Function and Reduction of Abdominal Fat Accumulation with Liraglutide in a Case of Werner Syndrome with Diabetes Mellitus. ( 27000366 )
2016
45
Radiographic presentation of musculoskeletal involvement in Werner syndrome (adult progeria). ( 27931782 )
2016
46
Evaluating the Role of p38 MAPK in the Accelerated Cell Senescence of Werner Syndrome Fibroblasts. ( 27136566 )
2016
47
Case of sarcomatoid carcinoma occurring in a patient with Werner syndrome. ( 27074772 )
2016
48
Werner syndrome: Clinical features, pathogenesis and potential therapeutic interventions. ( 26993153 )
2016
49
Increased susceptibility to oxidative stress- and ultraviolet A-induced apoptosis in fibroblasts in atypical progeroid syndrome/atypical Werner syndrome with LMNA mutation. ( 27539898 )
2016
50
The Caenorhabditis elegans Werner syndrome protein participates in DNA damage checkpoint and DNA repair in response to CPT-induced double-strand breaks. ( 26691982 )
2016

Variations for Werner Syndrome

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

75
# Symbol AA change Variation ID SNP ID
1 WRN p.Lys125Asn VAR_026588 rs387906337
2 WRN p.Lys135Glu VAR_026589 rs267607008

ClinVar genetic disease variations for Werner Syndrome:

6 (show top 50) (show all 1361)
# Gene Variation Type Significance SNP ID Assembly Location
1 WRN NM_000553.4(WRN): c.3690_3693delAGAC (p.Asp1231Serfs) deletion Pathogenic rs606231162 GRCh37 Chromosome 8, 31012142: 31012145
2 WRN NM_000553.4(WRN): c.3913C> T (p.Arg1305Ter) single nucleotide variant Pathogenic rs121908446 GRCh37 Chromosome 8, 31014977: 31014977
3 WRN NM_000553.4(WRN): c.3913C> T (p.Arg1305Ter) single nucleotide variant Pathogenic rs121908446 GRCh38 Chromosome 8, 31157461: 31157461
4 WRN NM_000553.4(WRN): c.3493C> T (p.Gln1165Ter) single nucleotide variant Pathogenic rs121908447 GRCh37 Chromosome 8, 31004913: 31004913
5 WRN NM_000553.4(WRN): c.3493C> T (p.Gln1165Ter) single nucleotide variant Pathogenic rs121908447 GRCh38 Chromosome 8, 31147397: 31147397
6 WRN NM_000553.4(WRN): c.3690_3693delAGAC (p.Asp1231Serfs) deletion Pathogenic rs606231162 GRCh38 Chromosome 8, 31154626: 31154629
7 WRN NM_000553.4(WRN): c.3139-1G> C single nucleotide variant Pathogenic rs113993961 GRCh37 Chromosome 8, 30999196: 30999196
8 WRN NM_000553.4(WRN): c.3139-1G> C single nucleotide variant Pathogenic rs113993961 GRCh38 Chromosome 8, 31141680: 31141680
9 WRN NM_000553.5(WRN): c.3915dup (p.Ala1306Serfs) duplication Pathogenic rs587776621 GRCh37 Chromosome 8, 31014979: 31014979
10 WRN NM_000553.5(WRN): c.3915dup (p.Ala1306Serfs) duplication Pathogenic rs587776621 GRCh38 Chromosome 8, 31157463: 31157463
11 WRN NM_000553.4(WRN): c.1105C> T (p.Arg369Ter) single nucleotide variant Pathogenic rs17847577 GRCh37 Chromosome 8, 30938648: 30938648
12 WRN NM_000553.4(WRN): c.1105C> T (p.Arg369Ter) single nucleotide variant Pathogenic rs17847577 GRCh38 Chromosome 8, 31081132: 31081132
13 WRN NM_000553.4(WRN): c.3686A> T (p.Gln1229Leu) single nucleotide variant Pathogenic rs369158322 GRCh38 Chromosome 8, 31150454: 31150454
14 WRN NM_000553.4(WRN): c.3686A> T (p.Gln1229Leu) single nucleotide variant Pathogenic rs369158322 GRCh37 Chromosome 8, 31007970: 31007970
15 WRN RECQL2, 1-BP DEL, NT1396 deletion Pathogenic
16 WRN NM_000553.4(WRN): c.1730A> T (p.Lys577Met) single nucleotide variant Pathogenic rs121908448 GRCh37 Chromosome 8, 30948359: 30948359
17 WRN NM_000553.4(WRN): c.1730A> T (p.Lys577Met) single nucleotide variant Pathogenic rs121908448 GRCh38 Chromosome 8, 31090843: 31090843
18 WRN NM_000553.5(WRN): c.375A> T (p.Lys125Asn) single nucleotide variant no interpretation for the single variant rs387906337 GRCh37 Chromosome 8, 30922450: 30922450
19 WRN NM_000553.5(WRN): c.375A> T (p.Lys125Asn) single nucleotide variant no interpretation for the single variant rs387906337 GRCh38 Chromosome 8, 31064934: 31064934
20 WRN NM_000553.5(WRN): c.403A> G (p.Lys135Glu) single nucleotide variant no interpretation for the single variant rs267607008 GRCh37 Chromosome 8, 30922478: 30922478
21 WRN NM_000553.5(WRN): c.403A> G (p.Lys135Glu) single nucleotide variant no interpretation for the single variant rs267607008 GRCh38 Chromosome 8, 31064962: 31064962
22 WRN NM_000553.4(WRN): c.2089-3024A> G single nucleotide variant Pathogenic rs281865157 GRCh37 Chromosome 8, 30966107: 30966107
23 WRN NM_000553.4(WRN): c.2089-3024A> G single nucleotide variant Pathogenic rs281865157 GRCh38 Chromosome 8, 31108591: 31108591
24 WRN NM_000553.5(WRN): c.2179dup (p.Cys727Leufs) duplication Pathogenic rs281865158 GRCh37 Chromosome 8, 30969221: 30969221
25 WRN NM_000553.5(WRN): c.2179dup (p.Cys727Leufs) duplication Pathogenic rs281865158 GRCh38 Chromosome 8, 31111705: 31111705
26 WRN NM_000553.4(WRN): c.2500C> T (p.Arg834Cys) single nucleotide variant Benign rs3087425 GRCh37 Chromosome 8, 30977810: 30977810
27 WRN NM_000553.4(WRN): c.2500C> T (p.Arg834Cys) single nucleotide variant Benign rs3087425 GRCh38 Chromosome 8, 31120294: 31120294
28 WRN NM_000553.4(WRN): c.3460-2A> C single nucleotide variant Pathogenic rs281865159 GRCh37 Chromosome 8, 31004878: 31004878
29 WRN NM_000553.4(WRN): c.3460-2A> C single nucleotide variant Pathogenic rs281865159 GRCh38 Chromosome 8, 31147362: 31147362
30 WRN NM_000553.4(WRN): c.3590delA (p.Asn1197Thrfs) deletion Pathogenic rs281865160 GRCh37 Chromosome 8, 31007874: 31007874
31 WRN NM_000553.4(WRN): c.3590delA (p.Asn1197Thrfs) deletion Pathogenic rs281865160 GRCh38 Chromosome 8, 31150358: 31150358
32 WRN NM_000553.4(WRN): c.1577-3C> A single nucleotide variant Benign/Likely benign rs3087409 GRCh37 Chromosome 8, 30946403: 30946403
33 WRN NM_000553.4(WRN): c.1577-3C> A single nucleotide variant Benign/Likely benign rs3087409 GRCh38 Chromosome 8, 31088887: 31088887
34 WRN NM_000553.4(WRN): c.3138+6C> T single nucleotide variant Benign rs3024239 GRCh37 Chromosome 8, 30999122: 30999122
35 WRN NM_000553.4(WRN): c.3138+6C> T single nucleotide variant Benign rs3024239 GRCh38 Chromosome 8, 31141606: 31141606
36 WRN NM_000553.4(WRN): c.3138+7G> A single nucleotide variant Benign rs2737335 GRCh38 Chromosome 8, 31141607: 31141607
37 WRN NM_000553.4(WRN): c.3138+7G> A single nucleotide variant Benign rs2737335 GRCh37 Chromosome 8, 30999123: 30999123
38 WRN NM_000553.4(WRN): c.3236C> T (p.Ser1079Leu) single nucleotide variant Benign/Likely benign rs3087414 GRCh37 Chromosome 8, 31000144: 31000144
39 WRN NM_000553.4(WRN): c.3236C> T (p.Ser1079Leu) single nucleotide variant Benign/Likely benign rs3087414 GRCh38 Chromosome 8, 31142628: 31142628
40 WRN NM_000553.5(WRN): c.1161G> A (p.Met387Ile) single nucleotide variant Benign/Likely benign rs1800391 GRCh37 Chromosome 8, 30938704: 30938704
41 WRN NM_000553.5(WRN): c.1161G> A (p.Met387Ile) single nucleotide variant Benign/Likely benign rs1800391 GRCh38 Chromosome 8, 31081188: 31081188
42 WRN NM_000553.4(WRN): c.2361G> T (p.Leu787=) single nucleotide variant Benign rs1800392 GRCh37 Chromosome 8, 30973957: 30973957
43 WRN NM_000553.4(WRN): c.2361G> T (p.Leu787=) single nucleotide variant Benign rs1800392 GRCh38 Chromosome 8, 31116441: 31116441
44 WRN NM_000553.4(WRN): c.3222G> T (p.Leu1074Phe) single nucleotide variant Benign rs1801195 GRCh37 Chromosome 8, 30999280: 30999280
45 WRN NM_000553.4(WRN): c.3222G> T (p.Leu1074Phe) single nucleotide variant Benign rs1801195 GRCh38 Chromosome 8, 31141764: 31141764
46 WRN NM_000553.5(WRN): c.340G> A (p.Val114Ile) single nucleotide variant Benign/Likely benign rs2230009 GRCh37 Chromosome 8, 30921935: 30921935
47 WRN NM_000553.5(WRN): c.340G> A (p.Val114Ile) single nucleotide variant Benign/Likely benign rs2230009 GRCh38 Chromosome 8, 31064419: 31064419
48 WRN NM_000553.4(WRN): c.4083C> T (p.Ser1361=) single nucleotide variant Benign/Likely benign rs1801196 GRCh37 Chromosome 8, 31024638: 31024638
49 WRN NM_000553.4(WRN): c.4083C> T (p.Ser1361=) single nucleotide variant Benign/Likely benign rs1801196 GRCh38 Chromosome 8, 31167122: 31167122
50 WRN NM_000553.4(WRN): c.4099T> C (p.Cys1367Arg) single nucleotide variant Benign/Likely benign rs1346044 GRCh37 Chromosome 8, 31024654: 31024654

Expression for Werner Syndrome

Search GEO for disease gene expression data for Werner Syndrome.

Pathways for Werner Syndrome

Pathways related to Werner Syndrome according to GeneCards Suite gene sharing:

(show all 17)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.27 BLM EXO1 FEN1 LMNA MRE11 NBN
2
Show member pathways
12.86 BLM EXO1 FEN1 MRE11 NBN POLB
3
Show member pathways
12.82 BLM EXO1 MRE11 NBN RPA1 WRN
4
Show member pathways
12.52 FEN1 LMNA MRE11 NBN POLB XRCC5
5
Show member pathways
12.45 BLM EXO1 MRE11 NBN RPA1 WRN
6
Show member pathways
12.34 BLM LMNA MRE11 NBN RPA1
7
Show member pathways
12.14 BLM EXO1 MRE11 NBN RPA1 WRN
8
Show member pathways
11.92 BLM EXO1 MRE11 NBN RPA1 WRN
9 11.87 BLM FEN1 LMNA MRE11 NBN RECQL
10
Show member pathways
11.77 MRE11 NBN XRCC5
11
Show member pathways
11.71 EXO1 FEN1 RPA1
12
Show member pathways
11.68 BLM HELLS MRE11 NBN
13 11.54 BLM MRE11 NBN WRN XRCC5
14 11.13 MRE11 NBN XRCC5
15
Show member pathways
11.03 MRE11 NBN XRCC5
16
Show member pathways
10.76 MRE11 NBN
17 10.73 FEN1 MRE11 NBN WRN XRCC5

GO Terms for Werner Syndrome

Cellular components related to Werner Syndrome according to GeneCards Suite gene sharing:

(show all 13)
# Name GO ID Score Top Affiliating Genes
1 protein-containing complex GO:0032991 9.89 DHX9 FEN1 POLB VCP XRCC5
2 nuclear chromosome, telomeric region GO:0000784 9.72 FEN1 MRE11 NBN RPA1 XRCC5
3 PML body GO:0016605 9.71 BLM MRE11 NBN RPA1
4 site of double-strand break GO:0035861 9.67 MRE11 NBN VCP WRN
5 replication fork GO:0005657 9.61 BLM NBN WRN
6 chromosome GO:0005694 9.56 BLM MRE11 NBN RECQL RECQL4 RECQL5
7 chromosome, telomeric region GO:0000781 9.55 BLM MRE11 NBN RECQL4 WRN
8 DNA replication factor A complex GO:0005662 9.51 RPA1 WRN
9 site of DNA damage GO:0090734 9.48 RPA1 XRCC5
10 nucleoplasm GO:0005654 9.47 BLM DHX9 EXO1 FEN1 LMNA MRE11
11 Mre11 complex GO:0030870 9.46 MRE11 NBN
12 nucleus GO:0005634 10.16 BLM DHX9 EXO1 FEN1 HELLS LMNA
13 nucleolus GO:0005730 10 BLM DHX9 FEN1 NBN WRN XRCC5

Biological processes related to Werner Syndrome according to GeneCards Suite gene sharing:

(show all 38)
# Name GO ID Score Top Affiliating Genes
1 double-strand break repair GO:0006302 9.93 FEN1 MRE11 NBN VCP WRN XRCC5
2 telomere maintenance GO:0000723 9.91 MRE11 NBN RECQL4 RPA1 WRN XRCC5
3 nucleic acid phosphodiester bond hydrolysis GO:0090305 9.88 EXO1 FEN1 MRE11 WRN
4 base-excision repair GO:0006284 9.88 FEN1 MRE11 POLB RECQL4 RPA1 WRN
5 meiotic cell cycle GO:0051321 9.87 EXO1 MRE11 NBN RPA1
6 double-strand break repair via nonhomologous end joining GO:0006303 9.84 BLM MRE11 NBN XRCC5
7 DNA duplex unwinding GO:0032508 9.81 BLM DHX9 MRE11 NBN RECQL RECQL4
8 t-circle formation GO:0090656 9.78 BLM EXO1 NBN WRN
9 positive regulation of type I interferon production GO:0032481 9.76 DHX9 MRE11 XRCC5
10 mitotic G2 DNA damage checkpoint GO:0007095 9.73 BLM MRE11 NBN
11 DNA double-strand break processing GO:0000729 9.72 BLM MRE11 NBN
12 DNA strand renaturation GO:0000733 9.7 BLM RECQL RECQL4
13 telomeric D-loop disassembly GO:0061820 9.69 BLM RECQL4 WRN
14 mismatch repair GO:0006298 9.68 EXO1 RPA1
15 cellular response to gamma radiation GO:0071480 9.67 WRN XRCC5
16 positive regulation of DNA replication GO:0045740 9.67 DHX9 RECQL4
17 replication fork processing GO:0031297 9.67 BLM WRN
18 G-quadruplex DNA unwinding GO:0044806 9.67 BLM DHX9 WRN
19 DNA-dependent DNA replication GO:0006261 9.66 POLB RPA1
20 telomere maintenance via telomerase GO:0007004 9.66 MRE11 RPA1
21 nucleotide-excision repair, DNA gap filling GO:0006297 9.65 POLB RPA1
22 positive regulation of protein autophosphorylation GO:0031954 9.65 MRE11 NBN
23 response to X-ray GO:0010165 9.65 BLM RECQL5
24 error-free translesion synthesis GO:0070987 9.64 RPA1 VCP
25 positive regulation of kinase activity GO:0033674 9.64 MRE11 NBN
26 telomere maintenance via semi-conservative replication GO:0032201 9.63 FEN1 RPA1
27 somatic hypermutation of immunoglobulin genes GO:0016446 9.63 EXO1 POLB
28 isotype switching GO:0045190 9.62 EXO1 NBN
29 cellular metabolic process GO:0044237 9.62 BLM WRN
30 DNA synthesis involved in DNA repair GO:0000731 9.61 BLM WRN
31 positive regulation of telomere maintenance GO:0032206 9.61 MRE11 NBN
32 DNA recombination GO:0006310 9.61 BLM EXO1 MRE11 RECQL RECQL4 RECQL5
33 cellular response to camptothecin GO:0072757 9.6 BLM RECQL5
34 telomeric 3' overhang formation GO:0031860 9.59 MRE11 NBN
35 double-strand break repair via homologous recombination GO:0000724 9.28 BLM FEN1 MRE11 NBN RECQL RECQL4
36 DNA repair GO:0006281 10.13 BLM EXO1 FEN1 MRE11 NBN POLB
37 cellular response to DNA damage stimulus GO:0006974 10.11 BLM EXO1 FEN1 MRE11 NBN POLB
38 DNA replication GO:0006260 10 BLM DHX9 EXO1 FEN1 MRE11 NBN

Molecular functions related to Werner Syndrome according to GeneCards Suite gene sharing:

(show all 38)
# Name GO ID Score Top Affiliating Genes
1 catalytic activity GO:0003824 9.97 BLM EXO1 FEN1 WRN
2 ATPase activity GO:0016887 9.96 BLM DHX9 VCP WRN
3 double-stranded DNA binding GO:0003690 9.92 DHX9 EXO1 FEN1 MRE11 XRCC5
4 nuclease activity GO:0004518 9.88 EXO1 FEN1 MRE11 WRN
5 single-stranded DNA binding GO:0003697 9.87 BLM DHX9 RECQL4 RPA1
6 helicase activity GO:0004386 9.86 BLM DHX9 HELLS RECQL RECQL4 RECQL5
7 endonuclease activity GO:0004519 9.84 EXO1 FEN1 MRE11
8 exonuclease activity GO:0004527 9.84 EXO1 FEN1 MRE11 WRN
9 manganese ion binding GO:0030145 9.81 FEN1 MRE11 WRN
10 damaged DNA binding GO:0003684 9.8 FEN1 NBN POLB RPA1 XRCC5
11 DNA helicase activity GO:0003678 9.73 BLM RECQL RECQL5 WRN
12 5'-3' exonuclease activity GO:0008409 9.72 EXO1 FEN1 MRE11
13 ATP-dependent helicase activity GO:0008026 9.72 BLM RECQL RECQL4 RECQL5 WRN
14 annealing helicase activity GO:0036310 9.69 BLM RECQL RECQL4
15 3'-5' exonuclease activity GO:0008408 9.68 MRE11 WRN
16 four-way junction DNA binding GO:0000400 9.67 BLM WRN
17 RNA-DNA hybrid ribonuclease activity GO:0004523 9.67 EXO1 FEN1
18 bubble DNA binding GO:0000405 9.67 BLM RECQL4 WRN
19 double-stranded telomeric DNA binding GO:0003691 9.66 MRE11 XRCC5
20 G-quadruplex DNA binding GO:0051880 9.65 BLM WRN
21 5'-flap endonuclease activity GO:0017108 9.65 EXO1 FEN1
22 Y-form DNA binding GO:0000403 9.64 BLM WRN
23 single-stranded telomeric DNA binding GO:0043047 9.64 MRE11