WRN
MCID: WRN001
MIFTS: 67

Werner Syndrome (WRN) malady

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

Aliases & Classifications for Werner Syndrome

Aliases & Descriptions for Werner Syndrome:

Name: Werner Syndrome 54 12 23 50 24 25 56 66 13 52 42 14 69
Werner's Syndrome 12 50 25
Adult Progeria 12 25 56
Ws 12 25 56
Werners Syndrome 25 29
Wrn 50 66
Adult Premature Ageing Syndrome 12
Adult Premature Aging 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;

HPO:

32
werner syndrome:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 54 277700
Disease Ontology 12 DOID:5688
MeSH 42 D014898
NCIt 47 C3447
Orphanet 56 ORPHA902
MESH via Orphanet 43 D014898
UMLS via Orphanet 70 C0043119
ICD10 via Orphanet 34 E34.8
MedGen 40 C0043119
UMLS 69 C0043119

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 joint stiffness, hypertension and cataract. 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 Regulation of TP53 Activity. The drugs Furosemide and Methyltestosterone have been mentioned in the context of this disorder. Affiliated tissues include skin, heart and lung, and related phenotypes are Increased viability with MLN4924 (a NAE inhibitor) and cellular

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 : 66 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 : 71 Werner syndrome (WS), also known as \"adult progeria\", is a rare, autosomal recesive 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 67)
id Related Disease Score Top Affiliating Genes
1 atypical werner syndrome 12.0
2 williams-beuren syndrome 11.7
3 waardenburg syndrome, type 2e, with or without neurologic involvement 11.6
4 hutchinson-gilford progeria 11.2
5 waardenburg syndrome, type 1 11.1
6 waardenburg syndrome, type 4a 11.0
7 waardenburg syndrome, type 3 11.0
8 waardenburg syndrome, type 2a 11.0
9 waardenburg's syndrome 10.9
10 waardenburg syndrome, type 2c 10.8
11 waardenburg syndrome, type 2d 10.8
12 waardenburg syndrome, type 2b 10.8
13 waardenburg syndrome, type 4b 10.8
14 waardenburg syndrome, type 4c 10.8
15 soft tissue sarcoma 10.8
16 uterus bicornis bicollis with partial vaginal septum and unilateral hematocolpos with ipsilateral renal agenesis 10.8
17 autoimmune enteropathy 10.2 LMNA WRN
18 heart-hand syndrome, slovenian type 10.2 LMNA WRN
19 progeria 10.2
20 wolfram syndrome 2 10.1 BLM WRN
21 mental retardation-hypotonic facies syndrome, x-linked 10.0 HELLS NBN
22 bile reflux 9.9
23 osteoporosis 9.8
24 ataxia-telangiectasia 9.8
25 bloom syndrome 9.8
26 ataxia 9.8
27 autoimmune disease 3 9.8 RECQL RECQL4 RECQL5 WRN
28 thyroiditis 9.7
29 cataract 9.7
30 rothmund-thomson syndrome 9.7
31 artery disease 9.7
32 sarcoma 9.7
33 breast cancer 9.7
34 coronary artery disease 9.7
35 hyperglycemia 9.7
36 acrodermatitis enteropathica 9.7 HELLS RECQL RECQL4 RECQL5 WRN
37 lymphedema-distichiasis syndrome 9.6 BLM FEN1 HELLS LMNA NBN PARP1
38 baller-gerold syndrome 9.6 BLM HELLS RECQL RECQL4 RECQL5 WRN
39 fragile x syndrome 9.6
40 pancreatitis 9.6
41 membranous nephropathy 9.6
42 retinal detachment 9.6
43 atherosclerosis 9.6
44 petroclival meningioma 9.6
45 ectodermal dysplasia 9.6
46 lipodystrophy 9.6
47 colorectal cancer 9.6
48 chondrosarcoma 9.6
49 leukemia 9.6
50 neuronitis 9.6

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



Diseases related to Werner Syndrome

Symptoms & Phenotypes for Werner Syndrome

Symptoms by clinical synopsis from OMIM:

277700

Clinical features from OMIM:

277700

Human phenotypes related to Werner Syndrome:

56 32 (show top 50) (show all 65)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 joint stiffness 56 32 Occasional (29-5%) HP:0001387
2 hypertension 56 32 Occasional (29-5%) HP:0000822
3 cataract 56 32 Very frequent (99-80%) HP:0000518
4 type ii diabetes mellitus 56 32 Frequent (79-30%) HP:0005978
5 short stature 56 32 Very frequent (99-80%) HP:0004322
6 abnormality of retinal pigmentation 56 32 Frequent (79-30%) HP:0007703
7 osteoporosis 56 32 Very frequent (99-80%) HP:0000939
8 laryngomalacia 56 32 Occasional (29-5%) HP:0001601
9 lipoatrophy 56 32 Very frequent (99-80%) HP:0100578
10 skeletal muscle atrophy 56 32 Frequent (79-30%) HP:0003202
11 myocardial infarction 56 32 Frequent (79-30%) HP:0001658
12 hyperkeratosis 56 32 Frequent (79-30%) HP:0000962
13 abnormality of the thorax 56 32 Very frequent (99-80%) HP:0000765
14 congestive heart failure 56 32 Frequent (79-30%) HP:0001635
15 lack of skin elasticity 56 32 Frequent (79-30%) HP:0100679
16 secondary amenorrhea 56 32 Occasional (29-5%) HP:0000869
17 skin ulcer 56 32 Frequent (79-30%) HP:0200042
18 hypogonadism 56 32 Very frequent (99-80%) HP:0000135
19 premature graying of hair 56 32 Very frequent (99-80%) HP:0002216
20 small hand 56 32 Frequent (79-30%) HP:0200055
21 abnormality of the cerebral vasculature 56 32 Occasional (29-5%) HP:0100659
22 slender build 56 32 Very frequent (99-80%) HP:0001533
23 narrow face 56 32 Frequent (79-30%) HP:0000275
24 aplasia/hypoplasia of the skin 56 32 Frequent (79-30%) HP:0008065
25 sarcoma 56 32 Occasional (29-5%) HP:0100242
26 abnormality of the voice 56 32 Very frequent (99-80%) HP:0001608
27 decreased fertility 56 32 Frequent (79-30%) HP:0000144
28 sparse scalp hair 56 32 Very frequent (99-80%) HP:0002209
29 increased bone mineral density 56 32 Frequent (79-30%) HP:0011001
30 convex nasal ridge 56 32 Very frequent (99-80%) HP:0000444
31 breast carcinoma 56 32 Occasional (29-5%) HP:0003002
32 ovarian neoplasm 56 32 Occasional (29-5%) HP:0100615
33 meningioma 56 32 Occasional (29-5%) HP:0002858
34 pulmonary artery stenosis 56 32 Frequent (79-30%) HP:0004415
35 white forelock 56 32 Very frequent (99-80%) HP:0002211
36 gastrointestinal carcinoma 56 32 Occasional (29-5%) HP:0002672
37 neoplasm of the lung 56 32 Occasional (29-5%) HP:0100526
38 neoplasm of the small intestine 56 32 Occasional (29-5%) HP:0100833
39 chondrocalcinosis 56 32 Frequent (79-30%) HP:0000934
40 squamous cell carcinoma 56 32 Occasional (29-5%) HP:0002860
41 rocker bottom foot 56 32 Frequent (79-30%) HP:0001838
42 thyroid carcinoma 56 32 Occasional (29-5%) HP:0002890
43 renal neoplasm 56 32 Occasional (29-5%) HP:0009726
44 insulin resistance 56 32 Frequent (79-30%) HP:0000855
45 pili torti 56 32 Very frequent (99-80%) HP:0003777
46 abnormal hair whorl 56 32 Very frequent (99-80%) HP:0010721
47 subcutaneous calcification 56 32 Frequent (79-30%) HP:0007618
48 aplasia/hypoplasia of the testes 56 32 Frequent (79-30%) HP:0010468
49 acral lentiginous melanoma 56 32 Occasional (29-5%) HP:0012060
50 neoplasm of the oral cavity 56 32 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 9.4 RECQL4 RECQL5 RPA1 WRN WRNIP1 XRCC5

MGI Mouse Phenotypes related to Werner Syndrome:

44 (show all 11)
id Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 10.37 RECQL5 RPA1 VCP WRN XRCC5 BLM
2 hematopoietic system MP:0005397 10.21 BLM EXO1 FEN1 HELLS LMNA NBN
3 growth/size/body region MP:0005378 10.14 VCP WRN XRCC5 BLM FEN1 HELLS
4 immune system MP:0005387 10.1 VCP WRN WRNIP1 XRCC5 BLM EXO1
5 endocrine/exocrine gland MP:0005379 10.09 EXO1 FEN1 HELLS LMNA NBN POLB
6 homeostasis/metabolism MP:0005376 10.06 EXO1 FEN1 HELLS LMNA NBN PARP1
7 embryo MP:0005380 10 BLM FEN1 HELLS NBN PARP1 POLB
8 digestive/alimentary MP:0005381 9.95 FEN1 LMNA POLB RECQL4 WRN XRCC5
9 integument MP:0010771 9.81 BLM HELLS LMNA PARP1 POLB RECQL4
10 mortality/aging MP:0010768 9.77 WRN XRCC5 NBN PARP1 POLB RECQL4
11 neoplasm MP:0002006 9.23 BLM EXO1 FEN1 NBN RECQL4 RPA1

Drugs & Therapeutics for Werner Syndrome

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

(show top 50) (show all 382)
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
Labetalol Approved Phase 4 36894-69-6 3869
16
Nifedipine Approved Phase 4 21829-25-4 4485
17
Verapamil Approved Phase 4 52-53-9 2520
18 Defibrotide Approved, Investigational Phase 4 83712-60-1
19
Menadione Approved, Nutraceutical Phase 4 58-27-5 4055
20
Phytonadione Approved, Nutraceutical Phase 4 84-80-0 4812 5284607
21 diuretics Phase 4
22 Natriuretic Agents Phase 4
23 Sodium Potassium Chloride Symporter Inhibitors Phase 4
24 Anabolic Agents Phase 4,Phase 3,Phase 2
25 Androgens Phase 4,Phase 3,Phase 2
26 Antineoplastic Agents, Hormonal Phase 4,Phase 3,Phase 2
27 Hormone Antagonists Phase 4,Phase 3,Phase 2
28 Hormones Phase 4,Phase 3,Phase 2
29 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 4,Phase 3,Phase 2
30 Testosterone 17 beta-cypionate Phase 4,Phase 3,Phase 2
31
Testosterone enanthate Phase 4,Phase 3,Phase 2 315-37-7 9416
32 Testosterone undecanoate Phase 4,Phase 3,Phase 2
33 Gastrointestinal Agents Phase 4,Phase 3,Phase 2
34 Protective Agents Phase 4,Phase 3,Phase 2,Phase 1
35 Micronutrients Phase 4,Phase 3
36 Trace Elements Phase 4,Phase 3
37 Vitamins Phase 4
38 Antacids Phase 4
39 Anti-Ulcer Agents Phase 4
40
Proton pump inhibitors Phase 4
41 Autonomic Agents Phase 4,Phase 3,Phase 2,Phase 1
42 Dopamine Agents Phase 4,Phase 2
43 Neurotransmitter Agents Phase 4,Phase 2,Phase 3,Phase 1
44 Peripheral Nervous System Agents Phase 4,Phase 3,Phase 2,Phase 1
45 Anesthetics Phase 4,Phase 3,Phase 1
46 Anesthetics, Local Phase 4,Phase 3,Phase 1
47 Central Nervous System Depressants Phase 4,Phase 3,Phase 2,Phase 1
48 Bone Density Conservation Agents Phase 4,Phase 3
49 Anticoagulants Phase 4,Phase 3
50 Antifibrinolytic Agents Phase 4

Interventional clinical trials:

(show top 50) (show all 272)
id Name Status NCT ID Phase
1 Investigation of Gender Specificity of the Effects of Furosemide in Healthy Female and Male Volunteers Unknown status NCT01156220 Phase 4
2 Open-label, Follow-up Study of Oral Testosterone Undecanoate in Hypogonadal Men Unknown status NCT01699178 Phase 4
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
6 Study to Assess Management Strategies for the Use of Esomeprazole (Nexium) in Helicobacter Pylori Infected Patients Completed NCT00574925 Phase 4
7 Donor Dopamine and Initial Graft Function Completed NCT00115115 Phase 4
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
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
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
12 Low Dose Naltrexone for Treatment of Pain in Patients With Fibromyalgia - Effect Via a Central Mechanism? Recruiting NCT02806440 Phase 4
13 Biomarker Guided Treatment in Gynaecological Cancer Recruiting NCT02543710 Phase 4
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
16 Chronic Hypertension and Pregnancy (CHAP) Project Recruiting NCT02299414 Phase 4
17 Pinloc Versus Hansson Pins in the Treatment of Femoral Neck Fractures. Recruiting NCT02776631 Phase 4
18 Prevention of Silent Cerebral Thromboembolism by Oral Anticoagulation With Dabigatran After Pulmonary Vein Isolation for Atrial Fibrillation Recruiting NCT02067182 Phase 4
19 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
20 Defibrotide in the Human Endotoxemia Model --‐ an Exploratory Trial Investigating the Effects and the Mechanisms of Defibrotide Not yet recruiting NCT02876601 Phase 4
21 Short-term Stenting Versus Balloon Dilatation for Dominant Strictures in Primary Sclerosing Cholangitis Unknown status NCT01398917 Phase 3
22 Multi Centre Trial of DSMM for Newly Diagnosed Multiple Myeloma up to 60 Years Unknown status NCT00546988 Phase 3
23 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
24 F18PET/CT Versus TC-MDP Scanning to Detect Bone Mets Unknown status NCT00882609 Phase 3
25 Comparing Desflurane to Sevoflurane for the Effect on Recovery Time in Patients Undergoing Urological Cystoscope Surgery Completed NCT01219881 Phase 3
26 Bladder Scan of Residual Urine With New Catheter Completed NCT01048541 Phase 2, Phase 3
27 Trigger-point Blockade in Persistent Pain After Open Groin Hernia Repair Completed NCT02065219 Phase 3
28 Bosentan for Mild Pulmonary Vascular Disease in Asd Patients. Completed NCT01218607 Phase 3
29 Comparing Two Forms of Head Immobilization for Stereotactic Radiotherapy Completed NCT00328510 Phase 3
30 Efficacy and Safety Trial of Transcranial Laser Therapy Within 24 Hours From Stroke Onset (NEST-3) Completed NCT01120301 Phase 3
31 Gemcitabine With or Without Capecitabine in Treating Patients With Advanced Pancreatic Cancer Completed NCT00030732 Phase 3
32 Venticute in Patients With Pneumonia or Aspiration of Gastric Contents and Intubation/Ventilation/Oxygenation Impairment (BY2001/M1-007) Completed NCT00074906 Phase 3
33 Study About Efficacy and Safety to Treat Multi-System-Atrophy Completed NCT00146809 Phase 3
34 Efficacy, Safety, Tolerability of Neramexane in Patients With Subjective Tinnitus Completed NCT00955799 Phase 3
35 Efficacy, Safety and Tolerability of Neramexane in Patients With Subjective Tinnitus Completed NCT00739635 Phase 3
36 Monoclonal Antibody Therapy (Rencarex®) in Treating Patients Who Have Undergone Surgery for Non-metastatic Kidney Cancer Completed NCT00087022 Phase 3
37 Safety and Efficacy Trial of Oral Testosterone Undecanoate (TU) in Hypogonadal Men Completed NCT01403116 Phase 3
38 Study of AA4500 in the Treatment of Peyronie's Disease Completed NCT01221623 Phase 3
39 Study of Atrasentan in Men With Non-Metastatic, Hormone-Refractory Prostate Cancer Completed NCT00036556 Phase 3
40 Prostate Cancer Prevention Study for Men With High Grade PIN (Prostatic Intraepithelial Neoplasia) Completed NCT00106691 Phase 3
41 Study to Investigate Efficacy and Safety of a New Oral Contraceptive Completed NCT00185289 Phase 3
42 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
43 Bryophyllum Pinnatum Versus Solifenacin Versus Placebo for Overactive Bladder Recruiting NCT02129816 Phase 2, Phase 3
44 Tasigna and Interferon Alpha Evaluation Initiated by the German Chronic Myeloid Leukemia Study Group - the TIGER Study Recruiting NCT01657604 Phase 3
45 Radiation Therapy Regimens in Treating Patients With Limited-Stage Small Cell Lung Cancer Receiving Cisplatin and Etoposide Recruiting NCT00632853 Phase 3
46 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
47 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
48 Androgen-Deprivation Therapy and Radiation Therapy in Treating Patients With Prostate Cancer Recruiting NCT01368588 Phase 3
49 Double Blind Placebo Controlled Controlled Study of Adjuvant MEDI4736 In Completely Resected NSCLC Recruiting NCT02273375 Phase 3
50 Evaluation of MGN1703 Maintenance Treatment in Patients With mCRC With Tumor Reduction During Induction Treatment Recruiting NCT02077868 Phase 3

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, Heart, Lung, Breast, Thyroid, Eye, Small Intestine

Publications for Werner Syndrome

Articles related to Werner Syndrome:

(show top 50) (show all 467)
id Title Authors Year
1
Homozygosity for the WRN Helicase-Inactivating Variant, R834C, does not confer a Werner syndrome clinical phenotype. ( 28276523 )
2017
2
Nailfold scleroderma-like capillary abnormalities in Werner syndrome (adult progeria). ( 28466674 )
2017
3
Residues in the RecQ C-terminal Domain of the Human Werner Syndrome Helicase are Involved in Unwinding G-quadruplex DNA. ( 28069813 )
2017
4
The Werner Syndrome Helicase Coordinates Sequential Strand Displacement and FEN1-Mediated Flap Cleavage during Polymerase I' Elongation. ( 27849570 )
2017
5
Accelerated epigenetic aging in Werner syndrome. ( 28377537 )
2017
6
Case of Werner syndrome complicated by adrenal insufficiency due to hypothalamic dysfunction. ( 28240455 )
2017
7
Recent Trends in WRN Gene Mutation Patterns in Individuals with Werner Syndrome. ( 28394436 )
2017
8
Cognitive deficit in hippocampal-dependent tasks in Werner syndrome mouse model. ( 28119126 )
2017
9
Femoral osteoporosis is more common than lumbar osteoporosis in patients with Werner syndrome. ( 28508498 )
2017
10
A novel splice-site mutation of WRN (c.IVS28+2T>C) identified in a consanguineous family with Werner Syndrome. ( 28440507 )
2017
11
Active Control of Repetitive Structural Transitions between Replication Forks and Holliday Junctions by Werner Syndrome Helicase. ( 27427477 )
2016
12
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
13
The Werner syndrome RECQ helicase targets G4 DNA in human cells to modulate transcription. ( 26984941 )
2016
14
WRN, the Werner Syndrome Gene, Exhibits Frameshift Mutations in Gastric and Colorectal Cancers. ( 28012115 )
2016
15
The Caenorhabditis elegans Werner syndrome protein participates in DNA damage checkpoint and DNA repair in response to CPT-induced double-strand breaks. ( 26691982 )
2016
16
Adult Progeria: Werner Syndrome. ( 27734655 )
2016
17
Increased susceptibility to oxidative stress- and ultraviolet A-induced apoptosis in fibroblasts in atypical progeroid syndrome/atypical Werner syndrome with LMNA mutation. ( 27539898 )
2016
18
Evaluating the Role of p38 MAPK in the Accelerated Cell Senescence of Werner Syndrome Fibroblasts. ( 27136566 )
2016
19
Werner syndrome: Clinical features, pathogenesis and potential therapeutic interventions. ( 26993153 )
2016
20
Radiographic presentation of musculoskeletal involvement in Werner syndrome (adult progeria). ( 27931782 )
2016
21
Vitamin C alleviates aging defects in a stem cell model for Werner syndrome. ( 27271327 )
2016
22
Werner syndrome through the lens of tissue and tumour genomics. ( 27559010 )
2016
23
Case of sarcomatoid carcinoma occurring in a patient with Werner syndrome. ( 27074772 )
2016
24
Inflammageing assessed by MMP9 in normal Japanese individuals and the patients with Werner syndrome. ( 27195193 )
2016
25
The effect of RO3201195 and a pyrazolyl ketone P38 MAPK inhibitor library on the proliferation of Werner syndrome cells. ( 26611938 )
2016
26
Interstitial Lung Disease in Werner Syndrome: A Case Report of a 55-Year-Old Male Patient. ( 26788395 )
2015
27
Werner Syndrome with Heart Block. ( 26071823 )
2015
28
Epigenetic Regulation of Werner Syndrome Gene in Age-Related Cataract. ( 26509079 )
2015
29
Action-at-a-Distance Mutagenesis Induced by Oxidized Guanine in Werner Syndrome Protein-Reduced Human Cells. ( 25730140 )
2015
30
Microwave-Assisted Synthesis of a MK2 Inhibitor by Suzuki-Miyaura Coupling for Study in Werner Syndrome Cells. ( 26046488 )
2015
31
Aging stem cells. A Werner syndrome stem cell model unveils heterochromatin alterations as a driver of human aging. ( 25931448 )
2015
32
Astaxanthin Improves Nonalcoholic Fatty Liver Disease in Werner Syndrome with Diabetes Mellitus. ( 26096415 )
2015
33
Impact of vitamin C on the cardiometabolic and inflammatory profiles of mice lacking a functional Werner syndrome protein helicase. ( 26521679 )
2015
34
A novel Werner Syndrome mutation: pharmacological treatment by read-through of nonsense mutations and epigenetic therapies. ( 25830902 )
2015
35
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
36
WRN protein as a novel erythroblast immunohistochemical marker with applications for the diagnosis of Werner syndrome. ( 25503078 )
2015
37
Werner Syndrome-specific induced pluripotent stem cells: recovery of telomere function by reprogramming. ( 25688260 )
2015
38
Multiplex cytokine analysis of Werner syndrome. ( 26668779 )
2015
39
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
40
POLD1 Germline Mutations in Patients Initially Diagnosed with Werner Syndrome. ( 26172944 )
2015
41
Association of the rs1346044 Polymorphism of the Werner Syndrome Gene RECQL2 with Increased Risk and Premature Onset of Breast Cancer. ( 26690424 )
2015
42
Metabolic and Phenotypic Differences between Mice Producing a Werner Syndrome Helicase Mutant Protein and Wrn Null Mice. ( 26447695 )
2015
43
Search and Insights into Novel Genetic Alterations Leading to Classical and Atypical Werner Syndrome. ( 24401204 )
2014
44
Telomerase protects werner syndrome lineage-specific stem cells from premature aging. ( 24749076 )
2014
45
Werner syndrome with refractory cystoid macular edema and immunohistochemical analysis of WRN proteins in human retinas. ( 24620826 )
2014
46
A cascade leading to premature aging phenotypes including abnormal tumor profiles in Werner syndrome (Review). ( 24356923 )
2014
47
The Werner syndrome protein limits the error-prone 8-oxo-dG lesion bypass activity of human DNA polymerase kappa. ( 25294835 )
2014
48
Acetylation of Werner syndrome protein (WRN): relationships with DNA damage, DNA replication and DNA metabolic activities. ( 24965941 )
2014
49
First Japanese case of atypical progeroid syndrome/atypical Werner syndrome with heterozygous LMNA mutation. ( 25327215 )
2014
50
Transient overexpression of Werner protein rescues starvation induced autophagy in Werner syndrome cells. ( 25257404 )
2014

Variations for Werner Syndrome

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

66
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
13.18 BLM EXO1 FEN1 LMNA NBN RPA1
2
Show member pathways
12.76 BLM EXO1 NBN RPA1 WRN
3
Show member pathways
12.66 BLM EXO1 FEN1 NBN PARP1 POLB
4
Show member pathways
12.64 FEN1 PARP1 POLB RPA1 WRN
5
Show member pathways
12.41 FEN1 NBN PARP1 POLB XRCC5
6
Show member pathways
12.4 BLM EXO1 NBN RPA1 WRN
7
Show member pathways
12.38 BLM PARP1 RPA1 WRN
8
Show member pathways
12.28 BLM LMNA NBN RPA1
9
Show member pathways
12.06 BLM EXO1 NBN RPA1 WRN
10
Show member pathways
11.84 BLM EXO1 NBN RPA1 WRN
11 11.83 BLM FEN1 LMNA NBN RECQL RECQL4
12
Show member pathways
11.69 EXO1 FEN1 RPA1
13
Show member pathways
11.55 BLM HELLS NBN
14 11.44 BLM NBN WRN XRCC5
15 11.02 NBN XRCC5
16 10.84 FEN1 NBN WRN XRCC5

GO Terms for Werner Syndrome

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

id Name GO ID Score Top Affiliating Genes
1 nucleoplasm GO:0005654 9.97 BLM EXO1 FEN1 LMNA NBN PARP1
2 nucleolus GO:0005730 9.88 BLM FEN1 NBN PARP1 WRN XRCC5
3 nucleus GO:0005634 9.86 BLM EXO1 FEN1 HELLS LMNA NBN
4 protein complex GO:0043234 9.83 FEN1 PARP1 POLB VCP XRCC5
5 chromosome GO:0005694 9.8 NBN RECQL RECQL4 RECQL5 WRN XRCC5
6 PML body GO:0016605 9.63 BLM NBN RPA1
7 chromosome, telomeric region GO:0000781 9.56 BLM NBN RECQL4 WRN
8 replication fork GO:0005657 9.54 BLM NBN WRN
9 nuclear chromosome, telomeric region GO:0000784 9.1 FEN1 NBN PARP1 RPA1 WRNIP1 XRCC5

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

(show all 33)
id Name GO ID Score Top Affiliating Genes
1 DNA recombination GO:0006310 9.97 BLM EXO1 RECQL RECQL4 RECQL5 RPA1
2 cellular response to DNA damage stimulus GO:0006974 9.93 BLM EXO1 FEN1 NBN PARP1 POLB
3 regulation of signal transduction by p53 class mediator GO:1901796 9.92 BLM EXO1 NBN RPA1 WRN
4 double-strand break repair GO:0006302 9.91 FEN1 NBN PARP1 VCP WRN XRCC5
5 base-excision repair GO:0006284 9.88 FEN1 POLB RECQL4 RPA1 WRN
6 telomere maintenance GO:0000723 9.88 NBN PARP1 RECQL4 RPA1 WRN XRCC5
7 DNA duplex unwinding GO:0032508 9.87 BLM NBN RECQL RECQL4 RECQL5 WRN
8 DNA synthesis involved in DNA repair GO:0000731 9.85 BLM EXO1 NBN WRN WRNIP1
9 nucleic acid phosphodiester bond hydrolysis GO:0090305 9.81 EXO1 FEN1 WRN
10 strand displacement GO:0000732 9.81 BLM EXO1 NBN WRN
11 t-circle formation GO:0090656 9.8 BLM EXO1 NBN WRN
12 DNA strand renaturation GO:0000733 9.72 BLM RECQL RECQL4
13 telomeric D-loop disassembly GO:0061820 9.71 BLM RECQL4 WRN
14 nucleotide-excision repair, preincision complex assembly GO:0006294 9.66 PARP1 RPA1
15 replication fork processing GO:0031297 9.65 BLM WRN
16 cellular response to gamma radiation GO:0071480 9.65 WRN XRCC5
17 nucleotide-excision repair, DNA gap filling GO:0006297 9.65 POLB RPA1
18 DNA replication GO:0006260 9.65 BLM EXO1 FEN1 NBN POLB RECQL4
19 nucleotide-excision repair, DNA incision, 3-to lesion GO:0006295 9.64 PARP1 RPA1
20 nucleotide-excision repair, preincision complex stabilization GO:0006293 9.64 PARP1 RPA1
21 DNA-dependent DNA replication GO:0006261 9.63 POLB RPA1
22 error-free translesion synthesis GO:0070987 9.62 RPA1 VCP
23 isotype switching GO:0045190 9.62 EXO1 NBN
24 DNA double-strand break processing GO:0000729 9.61 BLM NBN
25 somatic hypermutation of immunoglobulin genes GO:0016446 9.61 EXO1 POLB
26 mitotic G2 DNA damage checkpoint GO:0007095 9.6 BLM NBN
27 cellular metabolic process GO:0044237 9.59 BLM WRN
28 negative regulation of telomere maintenance via telomere lengthening GO:1904357 9.58 NBN PARP1
29 G-quadruplex DNA unwinding GO:0044806 9.58 BLM WRN
30 regulation of DNA-dependent DNA replication initiation GO:0030174 9.57 NBN WRNIP1
31 cellular response to camptothecin GO:0072757 9.56 BLM RECQL5
32 double-strand break repair via homologous recombination GO:0000724 9.28 BLM FEN1 NBN PARP1 RECQL RECQL4
33 DNA repair GO:0006281 10.1 BLM EXO1 FEN1 NBN PARP1 POLB

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

(show all 28)
id Name GO ID Score Top Affiliating Genes
1 catalytic activity GO:0003824 9.93 BLM EXO1 FEN1 WRN
2 ATPase activity GO:0016887 9.9 BLM VCP WRN WRNIP1
3 nuclease activity GO:0004518 9.81 EXO1 FEN1 WRN
4 damaged DNA binding GO:0003684 9.77 FEN1 NBN POLB RPA1 XRCC5
5 exonuclease activity GO:0004527 9.76 EXO1 FEN1 WRN
6 ATP-dependent helicase activity GO:0008026 9.72 BLM RECQL RECQL4 RECQL5 WRN
7 DNA helicase activity GO:0003678 9.71 BLM RECQL RECQL5 WRN
8 helicase activity GO:0004386 9.7 BLM HELLS RECQL RECQL4 RECQL5 WRN
9 oxidized purine DNA binding GO:0032357 9.69 BLM RECQL4 WRN
10 annealing helicase activity GO:0036310 9.67 BLM RECQL RECQL4
11 ATP-dependent DNA helicase activity GO:0004003 9.65 BLM NBN RECQL WRN XRCC5
12 bubble DNA binding GO:0000405 9.63 BLM RECQL4 WRN
13 four-way junction DNA binding GO:0000400 9.62 BLM WRN
14 RNA-DNA hybrid ribonuclease activity GO:0004523 9.62 EXO1 FEN1
15 5-3 exonuclease activity GO:0008409 9.61 EXO1 FEN1
16 G-quadruplex DNA binding GO:0051880 9.61 BLM WRN
17 telomeric D-loop binding GO:0061821 9.61 BLM RECQL4 WRN
18 Y-form DNA binding GO:0000403 9.58 BLM WRN
19 8-hydroxy-2-deoxyguanosine DNA binding GO:1905773 9.57 BLM WRN
20 flap endonuclease activity GO:0048256 9.56 EXO1 FEN1
21 forked DNA-dependent helicase activity GO:0061749 9.55 BLM WRN
22 ATP-dependent 3-5 DNA helicase activity GO:0043140 9.35 BLM RECQL RECQL4 RECQL5 WRN
23 four-way junction helicase activity GO:0009378 9.02 BLM RECQL RECQL4 RECQL5 WRN
24 protein binding GO:0005515 10.47 BLM EXO1 FEN1 HELLS LMNA NBN
25 DNA binding GO:0003677 10.24 BLM EXO1 FEN1 PARP1 RECQL RECQL5
26 ATP binding GO:0005524 10.18 BLM HELLS RECQL RECQL4 RECQL5 VCP
27 hydrolase activity GO:0016787 10.18 BLM EXO1 FEN1 HELLS RECQL RECQL5
28 nucleic acid binding GO:0003676 10.04 BLM 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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48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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