WS
MCID: WRN001
MIFTS: 68

Werner Syndrome (WS) malady

Eye, Skin, Fetal, Cancer categories

Summaries for Werner Syndrome

Sources:
21Genetics Home Reference, 43NIH Rare Diseases, 64Wikipedia, 47OMIM, 19GeneReviews, 33MalaCards
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NIH Rare Diseases:43 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: Werner Syndrome, also known as werner's syndrome, is related to progeria and rapadilino syndrome, and has symptoms including autosomal recessive inheritance, autosomal dominant inheritance and chronic arterial hypertension. An important gene associated with Werner Syndrome is WRN (Werner syndrome, RecQ helicase-like), and among its related pathways are Nucleotide Excision Repair and Homologous recombination. The compounds methylmethanesulfonate and hydroxyurea have been mentioned in the context of this disorder. Affiliated tissues include skin, liver and kidney, and related mouse phenotypes are cellular and mortality/aging.

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

Wikipedia:64 Werner syndrome (WS), also known as \"adult progeria\", is a rare, autosomal recessiveprogeroid syndrome... more...

Description from OMIM:47 277700

GeneReviews summary for werner

Aliases & Classifications for Werner Syndrome

Sources:
8Disease Ontology, 9diseasecard, 19GeneReviews, 43NIH Rare Diseases, 20GeneTests, 22GTR, 21Genetics Home Reference, 47OMIM, 10DISEASES, 45Novoseek, 49Orphanet, 61UMLS, 57SNOMED-CT, 35MeSH, 40NCIt, 36MESH via Orphanet, 26ICD10 via Orphanet, 58SNOMED-CT via Orphanet, 62UMLS via Orphanet
See all sources

Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Fetal, Cancer
Anatomical: Eye, Skin


Characteristics (Orphanet epidemiological data):

49
werner syndrome:
Inheritance: Autosomal recessive; Prevalence: 1-9/1000000; Age of onset: Adolescence / Young adulthood


Aliases & Descriptions:

werner syndrome 8 9 19 43 21 47 10 45 49 61
werner's syndrome 8 43 20 22 21
adult progeria 8 21 49
ws 8 21 49
adult premature ageing syndrome 8
adult premature aging syndrome 21
werners syndrome 21
wrn 43


External Ids:

Disease Ontology8 DOID:5688
OMIM47 277700
MeSH35 D014898
NCIt40 C3447
MESH via Orphanet36 D014898
ICD10 via Orphanet26 E34.8
SNOMED-CT via Orphanet58 51626007
UMLS via Orphanet62 C0043119

Related Diseases for Werner Syndrome

Sources:
17GeneCards, 18GeneDecks
See all sources

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

(show top 50)    (show all 90)
idRelated DiseaseScoreTop Affiliating Genes
1progeria30.8LMNA, WRN, HELLS
2rapadilino syndrome30.4WRN, RECQL, RECQL4, RECQL5
3bloom syndrome30.3TERF2, RAD54L, RECQL5, RECQL4, RECQL, BLM
4ataxia telangiectasia30.3RPA1, HELLS, WRN, BLM, TERF2
5nijmegen breakage syndrome30.3TERF2, BLM, WRN, RPA1
6rothmund-thomson syndrome30.2HELLS, WRN, BLM, RECQL, RECQL4, RECQL5
7xeroderma pigmentosum30.0RPA1, HELLS, FEN1, RECQL, RAD54L
8fanconi's anemia30.0HELLS, BLM
9n syndrome10.8
10williams syndrome10.6
11char syndrome10.6
12atypical werner syndrome10.5
13adult syndrome10.4
14micro syndrome10.4
15insulin resistance10.4
16waardenburg syndrome type i10.3
17waardenburg's syndrome10.3
18spondylosis10.3
19colorectal cancer10.3
20waardenburg syndrome type 310.3
21waardenburg syndrome type 2a10.3
22waardenburg syndrome type iva10.3
23ataxia10.2
24chronic myeloid leukemia10.1
25adenocarcinoma10.1
26soft tissue sarcoma10.1
27coronary artery disease,10.1
28fanconi syndrome10.1
29bile reflux10.1
30b cell deficiency10.1
31waardenburg syndrome type 210.1
32waardenburg syndrome type ivb10.1
33waardenburg syndrome type ivc10.1
34waardenburg syndrome type iid10.1
35waardenburg syndrome, type 2e, with or without neurologic involvement10.1
36non-hodgkin lymphoma10.1
37neuronitis10.1
38protein s deficiency10.1
39fragile x syndrome10.1
40diffuse large b-cell lymphoma10.1
41squamous cell carcinoma10.1
42b-cell lymphomas10.1
43familial breast cancer10.1
44follicular lymphoma10.1
45endotheliitis10.1
46tangier disease10.0
47petroclival meningioma10.0
48osteoporosis10.0
49adrenocortical carcinoma10.0
50aortic valve stenosis10.0

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



Diseases related to werner syndrome

Clinical Features for Werner Syndrome

Sources:
47OMIM, 49Orphanet
See all sources

Clinical features from OMIM:

277700

Clinical synopsis from OMIM:

277700

Symptoms:

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

Drugs & Therapeutics for Werner Syndrome

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials, 61UMLS, 41NDF-RT
See all sources

Approved drugs:

Search CenterWatch for Werner Syndrome

Drug clinical trials:

Search ClinicalTrials for Werner Syndrome

Search NIH Clinical Center for Werner Syndrome

Search CenterWatch for Werner Syndrome

Genetic Tests for Werner Syndrome

Sources:
20GeneTests, 22GTR
See all sources

Genetic tests related to Werner Syndrome:

id Genetic test Affiliating Genes
1 Werner Syndrome20 22 WRN

Anatomical Context for Werner Syndrome

Sources:
33MalaCards
See all sources

MalaCards organs/tissues related to Werner Syndrome:

33
Skin, Liver, Kidney, Lung, Uterus, Heart, Thyroid, Breast, T cells, B cells

Animal Models for Werner Syndrome or affiliated genes

Sources:
37MGI, 28inGenious Targeting Laboratory
See all sources

MGI Mouse Phenotypes related to Werner Syndrome:

37
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:000538410.5TERF2, RPA1, EXO1, HELLS, FEN1, WRN
2MP:001076810.5TREX1, WRN, FEN1, HELLS, EXO1, RPA1
3MP:001077110.5RECQL4, BLM, POLB, TREX1, WRN
4MP:000538710.5RPA1, EXO1, HELLS, FEN1, WRN, TREX1
5MP:000539710.4RPA1, EXO1, HELLS, FEN1, TREX1, POLB
6MP:000200610.2RPA1, BLM, RECQL4

Publications for Werner Syndrome

Sources:
51PubMed
See all sources

Articles related to Werner Syndrome:

(show top 50)    (show all 500)
idTitleAuthorsYear
1
Werner's syndrome may be lost in the shadow of the scleroderma. (23129431)
2013
2
Werner syndrome: a changing pattern of clinical manifestations in Japan (1917~2008). (23524889)
2013
3
Case report of a long-surviving Werner syndrome patient with severe aortic valve stenosis. (22188506)
2012
4
Japanese diabetic patients with Werner syndrome exhibit high incidence of cancer. (22872450)
2012
5
A case of Werner syndrome without metabolic abnormality: implications for the early pathophysiology. (22188495)
2012
6
The Werner syndrome protein: linking the replication checkpoint response to genome stability. (21389352)
2011
7
The Werner's Syndrome RecQ helicase/exonuclease at the nexus of cancer and aging. (21365542)
2011
8
Biguanide, but not thiazolidinedione, improved insulin resistance in Werner syndrome. (20122053)
2010
9
Divergent cellular phenotypes of human and mouse cells lacking the Werner syndrome RecQ helicase. (19896421)
2010
10
The Werner syndrome protein functions in repair of Cr(VI)-induced replication-associated DNA damage. (19487340)
2009
11
Sequence-specific processing of telomeric 3' overhangs by the Werner syndrome protein exonuclease activity. (20157518)
2009
12
Werner syndrome resembles normal aging. (19633413)
2009
13
Mechanism and substrate specificity of telomeric protein POT1 stimulation of the Werner syndrome helicase. (18583366)
2008
14
Contribution of Cdc42 to cholesterol efflux in fibroblasts from Tangier disease and Werner syndrome. (18374163)
2008
15
Herlyn-Werner-Wunderlich syndrome: uterus didelphys, blind hemivagina and ipsilateral renal agenesis. Sonographic and MR findings in 11 cases. (17503029)
2007
16
Structural alterations in outer arms of IgG oligosaccharides in patients with Werner syndrome. (17306488)
2007
17
The human Werner syndrome protein stimulates repair of oxidative DNA base damage by the DNA glycosylase NEIL1. (17611195)
2007
18
Prevention of accelerated cell aging in Werner syndrome using a p38 mitogen-activated protein kinase inhibitor. (16339323)
2005
19
Telomere shortening exposes functions for the mouse Werner and Bloom syndrome genes. (15367665)
2004
20
Werner syndrome protein, the MRE11 complex and ATR: menage-A -trois in guarding genome stability during DNA replication? (14988932)
2004
21
The exonucleolytic and endonucleolytic cleavage activities of human exonuclease 1 are stimulated by an interaction with the carboxyl- terminal region of the Werner syndrome protein. (12704184)
2003
22
Werner syndrome protein limits MYC-induced cellular senescence. (12842909)
2003
23
LMNA mutations in atypical Werner's syndrome. (14615129)
2003
24
Werner syndrome in a korean man. (12145260)
2002
25
Increased frequency of DNA deletions in pink-eyed unstable mice carrying a mutation in the Werner syndrome gene homologue. (11756244)
2002
26
Unwinding of a DNA triple helix by the Werner and Bloom syndrome helicases. (11110789)
2001
27
Werner syndrome protein is regulated and phosphorylated by DNA-dependent protein kinase. (11477099)
2001
28
p53 Modulates the exonuclease activity of Werner syndrome protein. (11427532)
2001
29
The Werner syndrome gene: the molecular basis of RecQ helicase-deficiency diseases. (10782115)
2000
30
The Werner syndrome. A model for the study of human aging. (10911957)
2000
31
The three-dimensional structure of the HRDC domain and implications for the Werner and Bloom syndrome proteins. (10647186)
1999
32
Werner syndrome helicase contains a 5'-->3' exonuclease activity that digests DNA and RNA strands in DNA/DNA and RNA/DNA duplexes dependent on unwinding. (10325426)
1999
33
Physical and functional interaction between p53 and the Werner's syndrome protein. (10506209)
1999
34
Replication focus-forming activity 1 and the Werner syndrome gene product. (9697700)
1998
35
Mutation and haplotype analyses of the Werner's syndrome gene based on its genomic structure: genetic epidemiology in the Japanese population. (9225981)
1997
36
Down-regulation of the defective transcripts of the Werner's syndrome gene in the cells of patients. (9223443)
1997
37
Integrated map of the chromosome 8p12-p21 region, a region involved in human cancers and Werner syndrome. (8786118)
1996
38
Regulation of c-fos expression in senescing Werner syndrome fibroblasts differs from that observed in senescing fibroblasts from normal donors. (7822435)
1995
39
Diffuse lentiginosis in a patient with Werner's syndrome--a possible association with incomplete leopard syndrome. (7671396)
1995
40
Genetic association between chromosome 8 microsatellite (MS8-134) and Werner syndrome (WRN): chromosome microdissection and homozygosity mapping. (7490095)
1995
41
Overexpression of plasminogen activator inhibitor type-1 in senescent fibroblasts from normal subjects and those with Werner syndrome. (7962138)
1994
42
Werner syndrome and biological ageing: a molecular genetic hypothesis. (8357345)
1993
43
Genetic linkage of Werner's syndrome to five markers on chromosome 8. (1741060)
1992
44
Increased frequency of 6-thioguanine-resistant peripheral blood lymphocytes in Werner syndrome patients. (2303247)
1990
45
Cardiovascular features of the Werner syndrome. (3812327)
1987
46
Neuropathology of the Werner syndrome. (4083151)
1985
47
Pathology of the Werner syndrome. (4083150)
1985
48
Roles of nuclear and cytoplasmic environments in the retarded DNA synthesis in Werner syndrome cells. (7379863)
1980
49
Werner's syndrome (progeria of the adult); further pathological and biochemical observations. (13803556)
1959
50
Progeria in the adult (Werner's syndrome); report of a case. (15418691)
1950

Genetic Variations for Werner Syndrome

Sources:
63UniProtKB/Swiss-Prot
See all sources

Genetic disease variations for Werner Syndrome:

63
id Symbol AA change Variation SNP ID
1WRNp.Lys125AsnVAR_026588
2WRNp.Lys135GluVAR_026589

Expression for genes affiliated with Werner Syndrome

Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
See all sources
Expression patterns in normal tissues for genes affiliated with Werner Syndrome

Search GEO for disease gene expression data for Werner Syndrome.

Pathways for genes affiliated with Werner Syndrome

Sources:
54Reactome, 38NCBI BioSystems Database, 30KEGG, 52QIAGEN, 4Cell Signaling Technology
See all sources

Compounds for genes affiliated with Werner Syndrome

Sources:
45Novoseek, 50PharmGKB, 11DrugBank, 29IUPHAR, 24HMDB, 60Tocris Bioscience
See all sources

Compounds related to Werner Syndrome according to GeneCards/GeneDecks:

(show all 21)
idCompoundScoreTop Affiliating Genes
1methylmethanesulfonate4510.8RPA1, HELLS, FEN1, WRN, POLB, BLM
2hydroxyurea45 50 1112.8RPA1, HELLS, WRN, BLM, DNASE1, RECQL4
3atp45 2911.8RAD54L, RPA1, EXO1, HELLS, FEN1, WRN
4magnesium45 11 2412.8HELLS, FEN1, WRN, TREX1, POLR1C, POLB
5cisplatin45 50 60 1113.8RPA1, HELLS, FEN1, WRN, POLR1C, POLB
6phosphodiester4510.8POLR1C, POLB, DNASE1
78-oxoguanine4510.8POLB, WRN, HELLS
8oligonucleotide4510.8RPA1, EXO1, HELLS, FEN1, GYPA, TREX1
9camptothecin45 60 1112.7DNASE1, BLM, WRN, RPA1
10thymine45 2411.7HELLS, POLB, DNASE1
118-hydroxyadenine4510.7WRN, HELLS
12arginine4510.7HELLS, FEN1, WRN, GYPA, POLB, LMNA
13nacl4510.6RPA1, HELLS, DNASE1, DHX9
14alanine4510.6HELLS, FEN1, GYPA, POLB, DNASE1, LMNA
15mgcl24510.6DNASE1, HELLS
16dttp4510.6HELLS, POLB
17thymidylate4510.5POLB, HELLS, RPA1
18deoxyadenosine45 2411.5HELLS, DNASE1
19zinc45 2411.5LMNA, DNASE1, POLR1C, HELLS, RPA1
20polynucleotide4510.4POLB, WRN
21adenine45 11 2412.2HELLS, POLB, DNASE1

GO Terms for genes affiliated with Werner Syndrome

Sources:
16Gene Ontology
See all sources

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

idNameGO IDScoreTop Affiliating Genes
1nucleusGO:00563410.5TERF2, RPA1, PURG, EXO1, HELLS, FEN1
2nucleoplasmGO:00565410.5RPA1, FEN1, WRN, POLR1C, POLB, RECQL5
3nuclear envelopeGO:00563510.5LMNA, DNASE1, TREX1
4nucleolusGO:00573010.4RPA1, FEN1, WRN, WRNIP1, BLM, RECQL
5lateral elementGO:00080010.4RPA1, BLM
6male germ cell nucleusGO:00167310.2BLM, RPA1

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

(show all 20)
idNameGO IDScoreTop Affiliating Genes
1DNA recombinationGO:00631010.8RAD54L, RPA1, EXO1, WRN, TREX1, BLM
2DNA strand renaturationGO:00073310.8BLM, RECQL, RECQL4, RAD54L
3DNA repairGO:00628110.8RPA1, EXO1, FEN1, TREX1, POLB, BLM
4telomere maintenanceGO:00072310.8TERF2, BLM, WRN, FEN1, RPA1
5DNA replicationGO:00626010.8RPA1, FEN1, WRN, WRNIP1, TREX1, RECQL
6DNA duplex unwindingGO:03250810.8WRN, RECQL, RECQL4, RECQL5
7base-excision repairGO:00628410.8POLB, WRN, FEN1
8DNA metabolic processGO:00625910.7RECQL5, TREX1, WRN
9meiosisGO:00712610.7RPA1, EXO1, RAD54L
10double-strand break repair via homologous recombinationGO:00072410.7RAD54L, BLM, RPA1
11double-strand break repairGO:00630210.7WRN, FEN1, RPA1
12replication fork processingGO:03129710.7BLM, WRN
13positive regulation of type I interferon productionGO:03248110.7TREX1, POLR1C, DHX9
14ATP catabolic processGO:00620010.6BLM, WRNIP1, WRN
15DNA synthesis involved in DNA repairGO:00073110.6WRNIP1, WRN
16DNA-dependent DNA replicationGO:00626110.5RPA1, POLB
17mismatch repairGO:00629810.5TREX1, EXO1
18telomere maintenance via recombinationGO:00072210.5FEN1, RPA1
19nucleotide-excision repair, DNA gap fillingGO:00629710.4POLB, RPA1
20telomere maintenance via semi-conservative replicationGO:03220110.2FEN1, RPA1

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

(show all 17)
idNameGO IDScoreTop Affiliating Genes
1ATP-dependent 3-5 DNA helicase activityGO:04314010.8RECQL4, RECQL, BLM, WRN
2bubble DNA bindingGO:00040510.8WRN, BLM, RECQL4
3ATP-dependent DNA helicase activityGO:00400310.8DHX9, RECQL, BLM, WRN
4helicase activityGO:00438610.8RAD54L, BLM, WRN, HELLS
5exonuclease activityGO:00452710.7EXO1, FEN1, WRN
6four-way junction helicase activityGO:00937810.7BLM, WRN
7DNA bindingGO:00367710.7FEN1, HELLS, EXO1, PURG, WRN, WRNIP1
8ATP bindingGO:00552410.7HELLS, WRN, WRNIP1, BLM, RECQL, RECQL4
9DNA helicase activityGO:00367810.7RECQL5, RECQL, WRN
10G-quadruplex DNA bindingGO:05188010.6BLM, WRN
11protein bindingGO:00551510.6WRNIP1, WRN, FEN1, HELLS, EXO1, RPA1
12annealing helicase activityGO:03631010.6RAD54L, BLM
13single-stranded DNA bindingGO:00369710.5RPA1, TREX1, BLM
143-5 exonuclease activityGO:00840810.5TREX1, WRN
15ribonuclease H activityGO:00452310.5FEN1, EXO1
165-3 exonuclease activityGO:00840910.4FEN1, EXO1
17ATPase activityGO:01688710.2WRN, WRNIP1, BLM

Products for genes affiliated with Werner Syndrome

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  • Proteins
  • Lysates
  • Antibodies

Sources for Werner Syndrome

3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet