MCID: WRN001
MIFTS: 68

Werner Syndrome

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

Aliases & Classifications for Werner Syndrome

MalaCards integrated aliases for Werner Syndrome:

Name: Werner Syndrome 54 12 23 50 24 25 56 71 29 13 52 42 14 69
Werner's Syndrome 12 50 25
Adult Progeria 12 25 56
Ws 12 25 56
Wrn 50 71
Adult Premature Ageing Syndrome 12
Adult Premature Aging Syndrome 25
Werners Syndrome 25

Characteristics:

Orphanet epidemiological data:

56
werner syndrome
Inheritance: Autosomal recessive; Prevalence: 1-9/1000000 (Europe),1-9/100000 (Japan),1-9/100000; Age of onset: Adolescent,Adult;

OMIM:

54
Inheritance:
autosomal recessive


HPO:

32
werner syndrome:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Werner Syndrome

NIH Rare Diseases : 50 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 atypical werner syndrome and williams-beuren syndrome, and has symptoms including short stature, sparse scalp hair and secondary amenorrhea. 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 Furosemide and Methyltestosterone have been mentioned in the context of this disorder. Affiliated tissues include skin, lung and heart, and related phenotypes are Increased viability with MLN4924 (a NAE inhibitor) and Synthetic lethal with MLN4924 (a NAE inhibitor)

UniProtKB/Swiss-Prot : 71 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.

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.

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.

Wikipedia : 72 Werner syndrome (WS), also known as \"adult progeria\", is a rare, autosomal recessive disorder which is... 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 58)
id Related Disease Score Top Affiliating Genes
1 atypical werner syndrome 12.2
2 williams-beuren syndrome 11.7
3 waardenburg syndrome, type 2e, with or without neurologic involvement 11.6
4 hutchinson-gilford progeria 11.1
5 soft tissue sarcoma 10.8
6 uterus bicornis bicollis with partial vaginal septum and unilateral hematocolpos with ipsilateral renal agenesis 10.8
7 auriculo-condylar syndrome 10.4 LMNA WRN
8 osteochondrodysplasia 10.4 HELLS WRN
9 basan syndrome 10.4 BLM WRN
10 ataxia 9.8
11 ataxia-telangiectasia 9.8
12 melanoma 9.8
13 bloom syndrome 9.8
14 osteoporosis 9.8
15 autosomal recessive limb-girdle muscular dystrophy type 2b 9.8 LMNA VCP
16 rothmund-thomson syndrome 9.7
17 artery disease 9.7
18 sarcoma 9.7
19 hyperglycemia 9.7
20 thyroiditis 9.7
21 breast cancer 9.7
22 coronary artery disease 9.7
23 cataract 9.7
24 leukemia 9.6
25 fatty liver disease 9.6
26 chondrosarcoma 9.6
27 liver disease 9.6
28 tangier disease 9.6
29 hypoxia 9.6
30 hypertriglyceridemia 9.6
31 interstitial lung disease 9.6
32 retinitis 9.6
33 pancreatic cancer 9.6
34 colorectal cancer 9.6
35 down syndrome 9.6
36 pancreatitis 9.6
37 retinal detachment 9.6
38 lung cancer 9.6
39 fragile x syndrome 9.6
40 hiv-1 9.6
41 petroclival meningioma 9.6
42 lipodystrophy 9.6
43 obesity 9.6
44 atherosclerosis 9.6
45 neuronitis 9.6
46 periodontitis 9.6
47 membranous nephropathy 9.6
48 ectodermal dysplasia 9.6
49 lung disease 9.6
50 acrodermatitis enteropathica 9.5 RECQL RECQL4 RECQL5 WRN

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:

54

Growth- Height:
short stature

Skeletal:
osteoporosis

Head And Neck- Nose:
beaked nose

Growth- Other:
stocky trunk

Cardiovascular- Heart:
premature arteriosclerosis

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

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

Head And Neck- Eyes:
cataracts
retinal degeneration

Endocrine Features:
hypogonadism
diabetes mellitus

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

Head And Neck- Face:
prematurely aged face

Skeletal- Limbs:
slender limbs

Neoplasia:
malignancy in approximately 10%
osteosarcoma and meningioma especially


Clinical features from OMIM:

277700

Human phenotypes related to Werner Syndrome:

56 32 (show top 50) (show all 66)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 short stature 56 32 hallmark (90%) Very frequent (99-80%) HP:0004322
2 sparse scalp hair 56 32 hallmark (90%) Very frequent (99-80%) HP:0002209
3 secondary amenorrhea 56 32 occasional (7.5%) Occasional (29-5%) HP:0000869
4 osteoporosis 56 32 hallmark (90%) Very frequent (99-80%) HP:0000939
5 cataract 56 32 hallmark (90%) Very frequent (99-80%) HP:0000518
6 white forelock 56 32 hallmark (90%) Very frequent (99-80%) HP:0002211
7 hyperkeratosis 56 32 frequent (33%) Frequent (79-30%) HP:0000962
8 hypertension 56 32 occasional (7.5%) Occasional (29-5%) HP:0000822
9 hypogonadism 56 32 hallmark (90%) Very frequent (99-80%) HP:0000135
10 congestive heart failure 56 32 frequent (33%) Frequent (79-30%) HP:0001635
11 joint stiffness 56 32 occasional (7.5%) Occasional (29-5%) HP:0001387
12 narrow face 56 32 frequent (33%) Frequent (79-30%) HP:0000275
13 pili torti 56 32 hallmark (90%) Very frequent (99-80%) HP:0003777
14 slender build 56 32 hallmark (90%) Very frequent (99-80%) HP:0001533
15 squamous cell carcinoma 56 32 occasional (7.5%) Occasional (29-5%) HP:0002860
16 pulmonary artery stenosis 56 32 frequent (33%) Frequent (79-30%) HP:0004415
17 insulin resistance 56 32 frequent (33%) Frequent (79-30%) HP:0000855
18 myocardial infarction 56 32 frequent (33%) Frequent (79-30%) HP:0001658
19 breast carcinoma 56 32 occasional (7.5%) Occasional (29-5%) HP:0003002
20 premature graying of hair 56 32 hallmark (90%) Very frequent (99-80%) HP:0002216
21 meningioma 56 32 occasional (7.5%) Occasional (29-5%) HP:0002858
22 laryngomalacia 56 32 occasional (7.5%) Occasional (29-5%) HP:0001601
23 lipoatrophy 56 32 hallmark (90%) Very frequent (99-80%) HP:0100578
24 decreased fertility 56 32 frequent (33%) Frequent (79-30%) HP:0000144
25 thyroid carcinoma 56 32 occasional (7.5%) Occasional (29-5%) HP:0002890
26 subcutaneous calcification 56 32 frequent (33%) Frequent (79-30%) HP:0007618
27 sarcoma 56 32 occasional (7.5%) Occasional (29-5%) HP:0100242
28 convex nasal ridge 56 32 hallmark (90%) Very frequent (99-80%) HP:0000444
29 chondrocalcinosis 56 32 frequent (33%) Frequent (79-30%) HP:0000934
30 type ii diabetes mellitus 56 32 frequent (33%) Frequent (79-30%) HP:0005978
31 increased bone mineral density 56 32 frequent (33%) Frequent (79-30%) HP:0011001
32 small hand 56 32 frequent (33%) Frequent (79-30%) HP:0200055
33 gastrointestinal carcinoma 56 32 occasional (7.5%) Occasional (29-5%) HP:0002672
34 abnormality of retinal pigmentation 56 32 frequent (33%) Frequent (79-30%) HP:0007703
35 skeletal muscle atrophy 56 32 frequent (33%) Frequent (79-30%) HP:0003202
36 abnormality of the thorax 56 32 hallmark (90%) Very frequent (99-80%) HP:0000765
37 lack of skin elasticity 56 32 frequent (33%) Frequent (79-30%) HP:0100679
38 skin ulcer 56 32 frequent (33%) Frequent (79-30%) HP:0200042
39 abnormality of the cerebral vasculature 56 32 occasional (7.5%) Occasional (29-5%) HP:0100659
40 aplasia/hypoplasia of the skin 56 32 frequent (33%) Frequent (79-30%) HP:0008065
41 abnormality of the voice 56 32 hallmark (90%) Very frequent (99-80%) HP:0001608
42 ovarian neoplasm 56 32 occasional (7.5%) Occasional (29-5%) HP:0100615
43 neoplasm of the lung 56 32 occasional (7.5%) Occasional (29-5%) HP:0100526
44 neoplasm of the small intestine 56 32 occasional (7.5%) Occasional (29-5%) HP:0100833
45 rocker bottom foot 56 32 frequent (33%) Frequent (79-30%) HP:0001838
46 renal neoplasm 56 32 occasional (7.5%) Occasional (29-5%) HP:0009726
47 abnormal hair whorl 56 32 hallmark (90%) Very frequent (99-80%) HP:0010721
48 aplasia/hypoplasia of the testes 56 32 frequent (33%) Frequent (79-30%) HP:0010468
49 acral lentiginous melanoma 56 32 occasional (7.5%) Occasional (29-5%) HP:0012060
50 neoplasm of the oral cavity 56 32 occasional (7.5%) Occasional (29-5%) HP:0100649

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

26
id 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 EXO1 FEN1 MRE11 NBN RPA1 BLM
3 Synthetic lethal with MLN4924 (a NAE inhibitor) GR00250-A-2 9.7 EXO1 FEN1 MRE11 NBN RPA1 BLM

MGI Mouse Phenotypes related to Werner Syndrome:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 10.38 VCP WRN XRCC5 BLM DHX9 EXO1
2 hematopoietic system MP:0005397 10.17 BLM DHX9 EXO1 FEN1 HELLS LMNA
3 immune system MP:0005387 10.1 VCP WRN XRCC5 BLM DHX9 EXO1
4 growth/size/body region MP:0005378 10.07 BLM FEN1 HELLS LMNA NBN POLB
5 endocrine/exocrine gland MP:0005379 10.06 HELLS LMNA NBN POLB RECQL4 WRN
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 FEN1 HELLS LMNA MRE11 NBN POLB
9 integument MP:0010771 9.7 RECQL4 VCP WRN BLM HELLS LMNA
10 neoplasm MP:0002006 9.28 BLM EXO1 FEN1 MRE11 NBN RECQL4

Drugs & Therapeutics for Werner Syndrome

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

(show top 50) (show all 376)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Furosemide Approved, Vet_approved Phase 4 54-31-9 3440
2
Methyltestosterone Approved Phase 4,Phase 3,Phase 2 58-18-4 6010
3
Testosterone Approved, Investigational Phase 4,Phase 3,Phase 2 58-22-0 6013
4
Pantoprazole Approved Phase 4 102625-70-7 4679
5
Esomeprazole Approved, Investigational Phase 4 161796-78-7, 119141-88-7 4594 9579578
6
Dopamine Approved Phase 4,Phase 2 51-61-6, 62-31-7 681
7
Bupivacaine Approved, Investigational Phase 4,Phase 3,Phase 1 2180-92-9, 38396-39-3 2474
8
Levobupivacaine Approved Phase 4 27262-47-1 92253
9
Zoledronic acid Approved Phase 4 118072-93-8 68740
10
Apixaban Approved Phase 4,Phase 3 503612-47-3 10182969
11
Heparin Approved, Investigational Phase 4 9005-49-6 772 46507594
12
Warfarin Approved Phase 4 81-81-2 6691 54678486
13
Prednisone Approved, Vet_approved Phase 4,Phase 2 53-03-2 5865
14
Naltrexone Approved, Investigational, Vet_approved Phase 4 16590-41-3 5360515
15 Defibrotide Approved, Investigational Phase 4 83712-60-1
16
Verapamil Approved Phase 4 52-53-9 2520
17
Menadione Approved, Nutraceutical Phase 4 58-27-5 4055
18
Phytonadione Approved, Nutraceutical Phase 4 84-80-0 4812 5284607
19 diuretics Phase 4
20 Natriuretic Agents Phase 4
21 Sodium Potassium Chloride Symporter Inhibitors Phase 4
22 Anabolic Agents Phase 4,Phase 3,Phase 2
23 Androgens Phase 4,Phase 3,Phase 2
24 Antineoplastic Agents, Hormonal Phase 4,Phase 3,Phase 2
25 Hormone Antagonists Phase 4,Phase 3,Phase 2
26 Hormones Phase 4,Phase 3,Phase 2
27 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 4,Phase 3,Phase 2
28 Testosterone 17 beta-cypionate Phase 4,Phase 3,Phase 2
29
Testosterone enanthate Phase 4,Phase 3,Phase 2 315-37-7 9416
30 Testosterone undecanoate Phase 4,Phase 3,Phase 2
31 Gastrointestinal Agents Phase 4,Phase 3,Phase 2
32 Protective Agents Phase 4,Phase 3,Phase 2,Phase 1
33 Micronutrients Phase 4,Phase 3
34 Trace Elements Phase 4,Phase 3
35 Vitamins Phase 4
36 Antacids Phase 4
37 Anti-Ulcer Agents Phase 4
38
Proton pump inhibitors Phase 4
39 Autonomic Agents Phase 4,Phase 3,Phase 2
40 Dopamine Agents Phase 4,Phase 2
41 Neurotransmitter Agents Phase 4,Phase 2,Phase 3,Phase 1
42 Peripheral Nervous System Agents Phase 4,Phase 3,Phase 2,Phase 1
43 Anesthetics Phase 4,Phase 3,Phase 1
44 Anesthetics, Local Phase 4,Phase 3,Phase 1
45 Central Nervous System Depressants Phase 4,Phase 3,Phase 2,Phase 1
46 Bone Density Conservation Agents Phase 4,Phase 3
47 Anticoagulants Phase 4,Phase 3
48 Antifibrinolytic Agents Phase 4
49 Antithrombin III Phase 4,Phase 3
50 Antithrombins Phase 4,Phase 3

Interventional clinical trials:

(show top 50) (show all 268)

id Name Status NCT ID Phase Drugs
1 Investigation of Gender Specificity of the Effects of Furosemide in Healthy Female and Male Volunteers Unknown status NCT01156220 Phase 4 Furosemide;aminohippurate sodium
2 Open-label, Follow-up Study of Oral Testosterone Undecanoate in Hypogonadal Men Unknown status NCT01699178 Phase 4 Oral testosterone undecanoate;Transdermal testosterone gel (AndroGel)
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 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
6 Study to Assess Management Strategies for the Use of Esomeprazole (Nexium) in Helicobacter Pylori Infected Patients Completed NCT00574925 Phase 4 Esomeprazole
7 Donor Dopamine and Initial Graft Function Completed NCT00115115 Phase 4 Dopamine infusion to brain dead organ donors
8 Pacing of the Atria in Sick Sinus Syndrome Trial Preventive Strategies for Atrial Fibrillation Completed NCT00161538 Phase 4
9 Pain Reduction After Cholecystectomy Completed NCT01199406 Phase 4 Levobupivacaine
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 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
12 Low Dose Naltrexone for Treatment of Pain in Patients With Fibromyalgia - Effect Via a Central Mechanism? Recruiting NCT02806440 Phase 4 Low dose naltrexone;Placebo
13 Biomarker Guided Treatment in Gynaecological Cancer Recruiting NCT02543710 Phase 4 Biomarker guided weekly taxane treatment in endometrial/ ovarian cancer
14 European Registry on the ACE Reperfusion Catheters and the Penumbra System in the Treatment of Acute Ischemic Stroke Recruiting NCT02678169 Phase 4
15 Study to Compare the Efficacy of Tocilizumab With or Without Glucocorticoid Discontinuation in Rheumatoid Arthritis Participants Recruiting NCT02573012 Phase 4 Placebo matched to prednisone;Prednisone
16 Defibrotide in the Human Endotoxemia Model --‐ an Exploratory Trial Investigating the Effects and the Mechanisms of Defibrotide Recruiting NCT02876601 Phase 4 Defibrotide;Placebo (0.9% sodium chloride);Lipopolysaccharide
17 Prevention of Silent Cerebral Thromboembolism by Oral Anticoagulation With Dabigatran After Pulmonary Vein Isolation for Atrial Fibrillation Recruiting NCT02067182 Phase 4 Dabigatran
18 Long-term Safety, Curvature Deformity Characterization, and Immunogenicity Over Time in Subjects Previously Treated With AA4500 for Peyronies Disease Active, not recruiting NCT02298829 Phase 4 Subjects Previously Treated with AA4500
19 Short-term Stenting Versus Balloon Dilatation for Dominant Strictures in Primary Sclerosing Cholangitis Unknown status NCT01398917 Phase 3
20 Multi Centre Trial of DSMM for Newly Diagnosed Multiple Myeloma up to 60 Years Unknown status NCT00546988 Phase 3
21 Imatinib Mesylate With or Without Interferon Alfa or Cytarabine Compared With Interferon Alfa Followed by Donor Stem Cell Transplant in Treating Patients With Newly Diagnosed Chronic Phase Chronic Myelogenous Leukemia Unknown status NCT00055874 Phase 3 cytarabine;hydroxyurea;imatinib mesylate
22 F18PET/CT Versus TC-MDP Scanning to Detect Bone Mets Unknown status NCT00882609 Phase 3
23 Comparing Desflurane to Sevoflurane for the Effect on Recovery Time in Patients Undergoing Urological Cystoscope Surgery Completed NCT01219881 Phase 3 Desflurane;Sevoflurane
24 Bladder Scan of Residual Urine With New Catheter Completed NCT01048541 Phase 2, Phase 3
25 Trigger-point Blockade in Persistent Pain After Open Groin Hernia Repair Completed NCT02065219 Phase 3 Bupivacaine;Placebo
26 Bosentan for Mild Pulmonary Vascular Disease in Asd Patients. Completed NCT01218607 Phase 3 Bosentan;Placebo
27 Comparing Two Forms of Head Immobilization for Stereotactic Radiotherapy Completed NCT00328510 Phase 3
28 Efficacy and Safety Trial of Transcranial Laser Therapy Within 24 Hours From Stroke Onset (NEST-3) Completed NCT01120301 Phase 3
29 Gemcitabine With or Without Capecitabine in Treating Patients With Advanced Pancreatic Cancer Completed NCT00030732 Phase 3 Gemcitabine + Capecitabine;Gemcitabine alone
30 Venticute in Patients With Pneumonia or Aspiration of Gastric Contents and Intubation/Ventilation/Oxygenation Impairment (BY2001/M1-007) Completed NCT00074906 Phase 3 Venticute
31 Study About Efficacy and Safety to Treat Multi-System-Atrophy Completed NCT00146809 Phase 3 Minocyline
32 Efficacy, Safety, Tolerability of Neramexane in Patients With Subjective Tinnitus Completed NCT00955799 Phase 3 Neramexane mesylate;Placebo
33 Efficacy, Safety and Tolerability of Neramexane in Patients With Subjective Tinnitus Completed NCT00739635 Phase 3 Neramexane mesylate;Placebo
34 Monoclonal Antibody Therapy (Rencarex®) in Treating Patients Who Have Undergone Surgery for Non-metastatic Kidney Cancer Completed NCT00087022 Phase 3
35 Safety and Efficacy Trial of Oral Testosterone Undecanoate (TU) in Hypogonadal Men Completed NCT01403116 Phase 3 oral testosterone undecanoate;topical testosterone gel 1%
36 Study of AA4500 in the Treatment of Peyronie's Disease Completed NCT01221623 Phase 3
37 Study of Atrasentan in Men With Non-Metastatic, Hormone-Refractory Prostate Cancer Completed NCT00036556 Phase 3 Atrasentan
38 Prostate Cancer Prevention Study for Men With High Grade PIN (Prostatic Intraepithelial Neoplasia) Completed NCT00106691 Phase 3 Toremifene 20 mg;Placebo
39 Study to Investigate Efficacy and Safety of a New Oral Contraceptive Completed NCT00185289 Phase 3 EV/DNG (Qlaira, BAY86-5027, SH T00658K)
40 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
41 Bryophyllum Pinnatum Versus Solifenacin Versus Placebo for Overactive Bladder Recruiting NCT02129816 Phase 2, Phase 3 Bryophyllum
42 Radiation Therapy Regimens in Treating Patients With Limited-Stage Small Cell Lung Cancer Receiving Cisplatin and Etoposide Recruiting NCT00632853 Phase 3 cisplatin;etoposide;carboplatin
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 Androgen-Deprivation Therapy and Radiation Therapy in Treating Patients With Prostate Cancer Recruiting NCT01368588 Phase 3
46 EMPagliflozin outcomE tRial in Patients With chrOnic heaRt Failure With Reduced Ejection Fraction (EMPEROR-Reduced) Recruiting NCT03057977 Phase 3 Empagliflozin;Placebo
47 EMPagliflozin outcomE tRial in Patients With chrOnic heaRt Failure With Preserved Ejection Fraction (EMPEROR-Preserved) Recruiting NCT03057951 Phase 3 Empagliflozin;Placebo
48 Double Blind Placebo Controlled Controlled Study of Adjuvant MEDI4736 In Completely Resected NSCLC Recruiting NCT02273375 Phase 3 MEDI4736;Placebo
49 Comparing Photon Therapy To Proton Therapy To Treat Patients With Lung Cancer Recruiting NCT01993810 Phase 3 paclitaxel;carboplatin;etoposide;cisplatin
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:

id Genetic test Affiliating Genes
1 Werner Syndrome 29 24 WRN

Anatomical Context for Werner Syndrome

MalaCards organs/tissues related to Werner Syndrome:

39
Skin, Lung, Heart, Prostate, Bone, Kidney, Bone Marrow

Publications for Werner Syndrome

Articles related to Werner Syndrome:

(show top 50) (show all 474)
id Title Authors Year
1
Recent Trends in WRN Gene Mutation Patterns in Individuals with Werner Syndrome. ( 28394436 )
2017
2
Cognitive deficit in hippocampal-dependent tasks in Werner syndrome mouse model. ( 28119126 )
2017
3
Accelerated epigenetic aging in Werner syndrome. ( 28377537 )
2017
4
The Werner Syndrome Helicase Coordinates Sequential Strand Displacement and FEN1-Mediated Flap Cleavage during Polymerase I' Elongation. ( 27849570 )
2017
5
Werner syndrome: a model for sarcopenia due to accelerated aging. ( 28738022 )
2017
6
Femoral osteoporosis is more common than lumbar osteoporosis in patients with Werner syndrome. ( 28508498 )
2017
7
Transcatheter aortic valve replacement in a patient with Werner syndrome. ( 28631398 )
2017
8
Genome-wide DNA methylation analysis in blood cells from patients with Werner syndrome. ( 28861129 )
2017
9
Uncommon cause of cirrhosis-A case of Werner syndrome with a novel WRN mutation. ( 28795391 )
2017
10
A novel splice-site mutation of WRN (c.IVS28+2T>C) identified in a consanguineous family with Werner Syndrome. ( 28440507 )
2017
11
Residues in the RecQ C-terminal Domain of the Human Werner Syndrome Helicase are Involved in Unwinding G-quadruplex DNA. ( 28069813 )
2017
12
The Relationship between Werner Syndrome and Sinonasal Malignant Melanoma: Two Sibling Cases of Werner Syndrome with Malignant Melanoma. ( 28717528 )
2017
13
Homozygosity for the WRN Helicase-Inactivating Variant, R834C, does not confer a Werner syndrome clinical phenotype. ( 28276523 )
2017
14
Nailfold scleroderma-like capillary abnormalities in Werner syndrome (adult progeria). ( 28466674 )
2017
15
Case of Werner syndrome complicated by adrenal insufficiency due to hypothalamic dysfunction. ( 28240455 )
2017
16
Werner Syndrome and Diabetes Mellitus Accompanied by Adrenal Cortex Cancer. ( 28768969 )
2017
17
Do you know this syndrome? Werner syndrome. ( 28538897 )
2017
18
Radiographic presentation of musculoskeletal involvement in Werner syndrome (adult progeria). ( 27931782 )
2016
19
Adult Progeria: Werner Syndrome. ( 27734655 )
2016
20
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
21
Werner syndrome: Clinical features, pathogenesis and potential therapeutic interventions. ( 26993153 )
2016
22
Evaluating the Role of p38 MAPK in the Accelerated Cell Senescence of Werner Syndrome Fibroblasts. ( 27136566 )
2016
23
Inflammageing assessed by MMP9 in normal Japanese individuals and the patients with Werner syndrome. ( 27195193 )
2016
24
Vitamin C alleviates aging defects in a stem cell model for Werner syndrome. ( 27271327 )
2016
25
Case of sarcomatoid carcinoma occurring in a patient with Werner syndrome. ( 27074772 )
2016
26
Werner syndrome through the lens of tissue and tumour genomics. ( 27559010 )
2016
27
The effect of RO3201195 and a pyrazolyl ketone P38 MAPK inhibitor library on the proliferation of Werner syndrome cells. ( 26611938 )
2016
28
The Werner syndrome RECQ helicase targets G4 DNA in human cells to modulate transcription. ( 26984941 )
2016
29
Active Control of Repetitive Structural Transitions between Replication Forks and Holliday Junctions by Werner Syndrome Helicase. ( 27427477 )
2016
30
Increased susceptibility to oxidative stress- and ultraviolet A-induced apoptosis in fibroblasts in atypical progeroid syndrome/atypical Werner syndrome with LMNA mutation. ( 27539898 )
2016
31
The Caenorhabditis elegans Werner syndrome protein participates in DNA damage checkpoint and DNA repair in response to CPT-induced double-strand breaks. ( 26691982 )
2016
32
WRN, the Werner Syndrome Gene, Exhibits Frameshift Mutations in Gastric and Colorectal Cancers. ( 28012115 )
2016
33
POLD1 Germline Mutations in Patients Initially Diagnosed with Werner Syndrome. ( 26172944 )
2015
34
Impact of vitamin C on the cardiometabolic and inflammatory profiles of mice lacking a functional Werner syndrome protein helicase. ( 26521679 )
2015
35
A novel Werner Syndrome mutation: pharmacological treatment by read-through of nonsense mutations and epigenetic therapies. ( 25830902 )
2015
36
Interstitial Lung Disease in Werner Syndrome: A Case Report of a 55-Year-Old Male Patient. ( 26788395 )
2015
37
Metabolic and Phenotypic Differences between Mice Producing a Werner Syndrome Helicase Mutant Protein and Wrn Null Mice. ( 26447695 )
2015
38
Astaxanthin Improves Nonalcoholic Fatty Liver Disease in Werner Syndrome with Diabetes Mellitus. ( 26096415 )
2015
39
A missense single nucleotide polymorphism, V114I of the Werner syndrome gene, is associated with risk of osteoporosis and femoral fracture in the Japanese population. ( 25637295 )
2015
40
Werner Syndrome with Heart Block. ( 26071823 )
2015
41
Multiplex cytokine analysis of Werner syndrome. ( 26668779 )
2015
42
WRN protein as a novel erythroblast immunohistochemical marker with applications for the diagnosis of Werner syndrome. ( 25503078 )
2015
43
Epigenetic Regulation of Werner Syndrome Gene in Age-Related Cataract. ( 26509079 )
2015
44
Werner Syndrome-specific induced pluripotent stem cells: recovery of telomere function by reprogramming. ( 25688260 )
2015
45
Microwave-Assisted Synthesis of a MK2 Inhibitor by Suzuki-Miyaura Coupling for Study in Werner Syndrome Cells. ( 26046488 )
2015
46
Aging stem cells. A Werner syndrome stem cell model unveils heterochromatin alterations as a driver of human aging. ( 25931448 )
2015
47
Association of the rs1346044 Polymorphism of the Werner Syndrome Gene RECQL2 with Increased Risk and Premature Onset of Breast Cancer. ( 26690424 )
2015
48
Action-at-a-Distance Mutagenesis Induced by Oxidized Guanine in Werner Syndrome Protein-Reduced Human Cells. ( 25730140 )
2015
49
Methylation of Werner syndrome protein is associated with the occurrence and development of invasive meningioma via the regulation of Myc and p53 expression. ( 26622343 )
2015
50
Cellular Deficiency of Werner Syndrome Protein or RECQ1 Promotes Genotoxic Potential of Hydroquinone and Benzo[a]pyrene Exposure. ( 25228686 )
2014

Variations for Werner Syndrome

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

71
id 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 all 23)
id Gene Variation Type Significance SNP ID Assembly Location
1 WRN NM_000553.4(WRN): c.3913C> T (p.Arg1305Ter) single nucleotide variant Pathogenic rs121908446 GRCh37 Chromosome 8, 31014977: 31014977
2 WRN NM_000553.4(WRN): c.3493C> T (p.Gln1165Ter) single nucleotide variant Pathogenic rs121908447 GRCh37 Chromosome 8, 31004913: 31004913
3 WRN NM_000553.4(WRN): c.3690_3693delAGAC (p.Asp1231Serfs) deletion Pathogenic rs606231162 GRCh38 Chromosome 8, 31154626: 31154629
4 WRN NM_000553.4(WRN): c.3139-1G> C single nucleotide variant Pathogenic rs113993961 GRCh37 Chromosome 8, 30999196: 30999196
5 WRN NM_000553.4(WRN): c.3915dupA (p.Ala1306Serfs) duplication Pathogenic rs587776621 GRCh37 Chromosome 8, 31014979: 31014979
6 WRN NM_000553.4(WRN): c.1105C> T (p.Arg369Ter) single nucleotide variant Pathogenic rs17847577 GRCh37 Chromosome 8, 30938648: 30938648
7 WRN NM_000553.4(WRN): c.3686A> T (p.Gln1229Leu) single nucleotide variant Pathogenic rs369158322 GRCh38 Chromosome 8, 31150454: 31150454
8 WRN RECQL2, 1-BP DEL, NT1396 deletion Pathogenic
9 WRN NM_000553.4(WRN): c.1730A> T (p.Lys577Met) single nucleotide variant Pathogenic rs121908448 GRCh37 Chromosome 8, 30948359: 30948359
10 WRN NM_000553.4(WRN): c.2089-3024A> G single nucleotide variant Pathogenic rs281865157 GRCh37 Chromosome 8, 30966107: 30966107
11 WRN NM_000553.4(WRN): c.2179dupT (p.Cys727Leufs) duplication Pathogenic rs281865158 GRCh37 Chromosome 8, 30969221: 30969221
12 WRN NM_000553.4(WRN): c.3460-2A> C single nucleotide variant Pathogenic rs281865159 GRCh37 Chromosome 8, 31004878: 31004878
13 WRN NM_000553.4(WRN): c.3590delA (p.Asn1197Thrfs) deletion Pathogenic rs281865160 GRCh37 Chromosome 8, 31007874: 31007874
14 WRN NM_000553.4(WRN): c.561A> G (p.Lys187=) single nucleotide variant Pathogenic rs775802030 GRCh37 Chromosome 8, 30924605: 30924605
15 WRN NM_000553.4(WRN): c.487_488delGA (p.Asp163Cysfs) deletion Likely pathogenic rs797045118 GRCh37 Chromosome 8, 30922562: 30922563
16 WRN NM_000553.4(WRN): c.15delA (p.Lys5Asnfs) deletion Pathogenic rs878854133 GRCh37 Chromosome 8, 30915978: 30915978
17 WRN NM_000553.4(WRN): c.2546_2547dupAT (p.Gln850Ilefs) duplication Pathogenic rs878854136 GRCh38 Chromosome 8, 31120340: 31120341
18 WRN NM_000553.4(WRN): c.2959C> T (p.Arg987Ter) single nucleotide variant Likely pathogenic rs747319628 GRCh38 Chromosome 8, 31132498: 31132498
19 WRN NC_000008.11: g.(?_31150341)_(31157530_?)del deletion Pathogenic GRCh38 Chromosome 8, 31150341: 31157530
20 WRN NM_000553.4(WRN): c.502_503delAA (p.Lys168Alafs) deletion Pathogenic rs1060500056 GRCh38 Chromosome 8, 31065061: 31065062
21 WRN NM_000553.4(WRN): c.1898+2T> G single nucleotide variant Likely pathogenic rs772319506 GRCh38 Chromosome 8, 31091900: 31091900
22 WRN NM_000553.4(WRN): c.2665C> T (p.Arg889Ter) single nucleotide variant Pathogenic rs774765029 GRCh38 Chromosome 8, 31124556: 31124556
23 WRN NM_000553.4(WRN): c.673C> T (p.Arg225Ter) single nucleotide variant Pathogenic rs370324188 GRCh38 Chromosome 8, 31068276: 31068276

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 16)
id Super pathways Score Top Affiliating Genes
1
Show member pathways
13.26 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 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
11.76 MRE11 NBN XRCC5
11
Show member pathways
11.7 EXO1 FEN1 RPA1
12
Show member pathways
11.65 BLM HELLS MRE11 NBN
13 11.54 BLM MRE11 NBN WRN XRCC5
14 11.1 MRE11 NBN XRCC5
15
Show member pathways
10.75 MRE11 NBN
16 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 11)
id Name GO ID Score Top Affiliating Genes
1 nucleolus GO:0005730 9.95 BLM DHX9 FEN1 NBN WRN XRCC5
2 chromosome GO:0005694 9.83 MRE11 NBN RECQL RECQL5 XRCC5
3 protein complex GO:0043234 9.8 FEN1 POLB VCP XRCC5
4 PML body GO:0016605 9.67 BLM MRE11 NBN RPA1
5 nuclear chromosome, telomeric region GO:0000784 9.65 FEN1 MRE11 NBN RPA1 XRCC5
6 site of double-strand break GO:0035861 9.58 MRE11 NBN VCP
7 replication fork GO:0005657 9.5 BLM NBN WRN
8 nucleoplasm GO:0005654 9.47 BLM DHX9 EXO1 FEN1 LMNA MRE11
9 Mre11 complex GO:0030870 9.46 MRE11 NBN
10 chromosome, telomeric region GO:0000781 9.35 BLM MRE11 NBN RECQL4 WRN
11 nucleus GO:0005634 10.06 BLM DHX9 EXO1 FEN1 HELLS LMNA

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

(show all 35)
id Name GO ID Score Top Affiliating Genes
1 DNA replication GO:0006260 9.96 BLM EXO1 FEN1 MRE11 NBN POLB
2 telomere maintenance GO:0000723 9.89 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 POLB RECQL4 RPA1 WRN
5 double-strand break repair GO:0006302 9.88 FEN1 MRE11 NBN VCP WRN XRCC5
6 DNA synthesis involved in DNA repair GO:0000731 9.85 BLM EXO1 MRE11 NBN WRN
7 strand displacement GO:0000732 9.83 BLM EXO1 MRE11 NBN WRN
8 meiotic cell cycle GO:0051321 9.82 EXO1 MRE11 NBN
9 t-circle formation GO:0090656 9.81 BLM EXO1 NBN WRN
10 DNA recombination GO:0006310 9.81 BLM EXO1 MRE11 RECQL RECQL4 RECQL5
11 double-strand break repair via nonhomologous end joining GO:0006303 9.79 MRE11 NBN XRCC5
12 positive regulation of type I interferon production GO:0032481 9.78 DHX9 MRE11 XRCC5
13 mitotic G2 DNA damage checkpoint GO:0007095 9.75 BLM MRE11 NBN
14 DNA double-strand break processing GO:0000729 9.74 BLM MRE11 NBN
15 DNA strand renaturation GO:0000733 9.73 BLM RECQL RECQL4
16 telomeric D-loop disassembly GO:0061820 9.72 BLM RECQL4 WRN
17 replication fork processing GO:0031297 9.67 BLM WRN
18 cellular response to gamma radiation GO:0071480 9.66 WRN XRCC5
19 nucleotide-excision repair, DNA gap filling GO:0006297 9.66 POLB RPA1
20 positive regulation of protein autophosphorylation GO:0031954 9.65 MRE11 NBN
21 DNA-dependent DNA replication GO:0006261 9.65 POLB RPA1
22 error-free translesion synthesis GO:0070987 9.65 RPA1 VCP
23 somatic hypermutation of immunoglobulin genes GO:0016446 9.64 EXO1 POLB
24 positive regulation of kinase activity GO:0033674 9.63 MRE11 NBN
25 isotype switching GO:0045190 9.63 EXO1 NBN
26 cellular metabolic process GO:0044237 9.62 BLM WRN
27 positive regulation of telomere maintenance GO:0032206 9.62 MRE11 NBN
28 double-strand break repair via homologous recombination GO:0000724 9.61 BLM FEN1 MRE11 NBN RECQL RECQL4
29 cellular response to camptothecin GO:0072757 9.6 BLM RECQL5
30 telomeric 3 overhang formation GO:0031860 9.59 MRE11 NBN
31 G-quadruplex DNA unwinding GO:0044806 9.54 BLM WRN
32 DNA duplex unwinding GO:0032508 9.28 BLM DHX9 MRE11 NBN RECQL RECQL4
33 DNA repair GO:0006281 10.13 BLM EXO1 FEN1 MRE11 NBN POLB
34 cellular response to DNA damage stimulus GO:0006974 10.11 BLM EXO1 FEN1 MRE11 NBN POLB
35 regulation of signal transduction by p53 class mediator GO:1901796 10 BLM EXO1 MRE11 NBN RPA1 WRN

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

(show all 31)
id Name GO ID Score Top Affiliating Genes
1 catalytic activity GO:0003824 9.95 BLM EXO1 FEN1 WRN
2 nuclease activity GO:0004518 9.87 EXO1 FEN1 MRE11 WRN
3 helicase activity GO:0004386 9.86 BLM DHX9 HELLS RECQL RECQL4 RECQL5
4 exonuclease activity GO:0004527 9.81 EXO1 FEN1 MRE11 WRN
5 endonuclease activity GO:0004519 9.8 EXO1 FEN1 MRE11
6 ATPase activity GO:0016887 9.79 BLM VCP WRN
7 damaged DNA binding GO:0003684 9.77 FEN1 NBN POLB RPA1 XRCC5
8 double-stranded DNA binding GO:0003690 9.75 FEN1 MRE11 XRCC5
9 DNA helicase activity GO:0003678 9.73 BLM RECQL RECQL5 WRN
10 ATP-dependent helicase activity GO:0008026 9.72 BLM RECQL RECQL4 RECQL5 WRN
11 annealing helicase activity GO:0036310 9.67 BLM RECQL RECQL4
12 3-5 exonuclease activity GO:0008408 9.65 MRE11 WRN
13 bubble DNA binding GO:0000405 9.65 BLM RECQL4 WRN
14 four-way junction DNA binding GO:0000400 9.64 BLM WRN
15 single-stranded DNA binding GO:0003697 9.64 BLM RPA1
16 RNA-DNA hybrid ribonuclease activity GO:0004523 9.63 EXO1 FEN1
17 5-3 exonuclease activity GO:0008409 9.63 EXO1 FEN1
18 telomeric D-loop binding GO:0061821 9.63 BLM RECQL4 WRN
19 G-quadruplex DNA binding GO:0051880 9.61 BLM WRN
20 Y-form DNA binding GO:0000403 9.6 BLM WRN
21 8-hydroxy-2-deoxyguanosine DNA binding GO:1905773 9.58 BLM WRN
22 flap endonuclease activity GO:0048256 9.56 EXO1 FEN1
23 forked DNA-dependent helicase activity GO:0061749 9.55 BLM WRN
24 four-way junction helicase activity GO:0009378 9.55 BLM RECQL RECQL4 RECQL5 WRN
25 ATP-dependent DNA helicase activity GO:0004003 9.5 BLM DHX9 MRE11 NBN RECQL WRN
26 ATP-dependent 3-5 DNA helicase activity GO:0043140 9.02 BLM RECQL RECQL4 RECQL5 WRN
27 protein binding GO:0005515 10.48 BLM DHX9 EXO1 FEN1 HELLS LMNA
28 DNA binding GO:0003677 10.24 BLM DHX9 EXO1 FEN1 MRE11 RECQL
29 ATP binding GO:0005524 10.18 BLM DHX9 HELLS RECQL RECQL4 RECQL5
30 hydrolase activity GO:0016787 10.14 BLM DHX9 EXO1 FEN1 HELLS MRE11
31 nucleic acid binding GO:0003676 10.07 BLM DHX9 RECQL RECQL5 RPA1 WRN

Sources for Werner Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
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52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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