Werner syndrome: Difference between revisions

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	Werner syndrome;
ICD-9	259.8
OMIM	277700
DiseasesDB	14096
MeSH	C16.320.925

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Revision as of 14:54, 24 July 2012

Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1] Associate Editor(s)-in-Chief: Raviteja Guddeti, M.B.B.S. [2]

Overview

Werner Syndrome (WRN) is a very rare, autosomal recessive^[1] disorder characterized by the appearance of premature aging.^[2]

Werner's syndrome more closely resembles accelerated aging than any other segmental progeria. For this reason, Werner syndrome is often referred to as a progeroid syndrome, as it partly mimics the symptoms of Progeria.

↑ Ozgenc A, Loeb LA (2005). "Current advances in unraveling the function of the Werner syndrome protein". Mutation research. 577 (1–2): 237–51. doi:10.1016/j.mrfmmm.2005.03.020. PMID 15946710. Unknown parameter |month= ignored (help)
↑ Gray MD, Shen JC, Kamath-Loeb AS, Blank A, Sopher BL, Martin GM, Oshima J, Loeb LA (1997). "The Werner syndrome protein is a DNA helicase". Nature genetics. 17 (1): 100�"3. doi:10.1038/ng0997-100. PMID 9288107. Unknown parameter |month= ignored (help); replacement character in |pages= at position 4 (help)

[aur-1] Ozgenc A, Loeb LA (2005). "Current advances in unraveling the function of the Werner syndrome protein". Mutation research. 577 (1–2): 237–51. doi:10.1016/j.mrfmmm.2005.03.020. PMID 15946710. Unknown parameter |month= ignored (help)

[2] Gray MD, Shen JC, Kamath-Loeb AS, Blank A, Sopher BL, Martin GM, Oshima J, Loeb LA (1997). "The Werner syndrome protein is a DNA helicase". Nature genetics. 17 (1): 100�"3. doi:10.1038/ng0997-100. PMID 9288107. Unknown parameter |month= ignored (help); replacement character in |pages= at position 4 (help)

[1]

[2]

@@ Line 1: / Line 1: @@
 {{Infobox_Disease |
-  Name           = Werner syndrome |
+Name = Werner syndrome |
-  Image          = |
+Image = |
-  Caption        = |
+Caption = |
-  DiseasesDB     = 14096 |
+DiseasesDB = 14096 |
-  ICD10          = |
+ICD10 = |
-  ICD9           = {{ICD9|259.8}} |
+ICD9 = {{ICD9|259.8}} |
-  ICDO           = |
+ICDO = |
-  OMIM           = 277700 |
+OMIM = 277700 |
-  MedlinePlus    = |
+MedlinePlus = |
-  eMedicineSubj  = |
+eMedicineSubj = |
-  eMedicineTopic = |
+eMedicineTopic = |
-  MeshName       = Werner+Syndrome  |
+MeshName = Werner+Syndrome |
-  MeshNumber     = C16.320.925 |
+MeshNumber = C16.320.925 |
 }}
 {{SI}}
 {{CMG}} {{AE}} {{RT}}
 ==Overview==
@@ Line 21: / Line 23: @@
 [[Werner's syndrome]] more closely resembles [[Accelerated aging disease|accelerated aging]] than any other segmental [[progeria]]. For this reason, Werner syndrome is often referred to as a progeroid syndrome, as it partly mimics the symptoms of [[Progeria]].
-==History==
-Werner's syndrome is named after [[Otto Werner]],<ref>{{WhoNamedIt|synd|892}}</ref> a German scientist, who, as a student, described the syndrome as part of his doctoral thesis in 1904.
-==Pathophysiology==
-[[Werner syndrome]] is an autosomal recessive disorder.<ref name=aur/> The gene associated with [[Werner Syndrome]] lies on[[chromosome 8]] in humans.<ref>{{cite journal |pmid=1741060 |year=1992 |month=Feb |author=Goto M, Rubenstein M, Weber J, Woods K, Drayna D|title=Genetic linkage of Werner's syndrome to five markers on chromosome 8 |volume=355 |issue=6362|pages=735–8|doi=10.1038/355735a0 |journal=Nature}}</ref>The defect is on a [[gene]] that codes [[DNA helicase]] and it is located on the short arm of the 8th [[chromosome]]. The disorder is directly caused by shorter-than-normal length [[telomere]] maintenance.  As a result [[DNA replication]] is impaired.
-[[Image:autorecessive.svg|thumb|left|Werner syndrome has an autosomal recessive pattern of [[Heredity|inheritance]].]]
-==Symptoms==
-Individuals with this syndrome typically develop normally until they reach [[puberty]]. Following puberty they age rapidly, so that by age 40 they often appear several decades older. The age of onset of Werner syndrome is variable, but an early sign is the lack of a teenage growth spurt, which results in short stature. Other signs and symptoms appear when affected individuals are in their twenties or thirties and include loss and graying of hair, hoarseness of the voice, thickening of the skin, and cloudy lenses ([[cataract]]s) in both eyes. Overall, people affected by Werner syndrome have thin arms and legs and a thick torso.
-Affected individuals typically have a characteristic facial appearance described as "bird-like" by the time they reach their thirties. Patients with Werner syndrome also exhibit genomic instability, [[hypogonadism]], and various age-associated disorders; these include [[cancer]], [[coronary heart disease|heart disease]], [[atherosclerosis]], [[diabetes mellitus]], and [[cataract]]s. However, not all characteristics of old-age are present in Werner patients; for instance, [[senility]] is not seen in individuals with Werner syndrome. People affected by Werner syndrome usually do not live past their late forties or early fifties, often dying from the results of cancer or heart disease.
-==See also==
-* [[Accelerated aging disease]]
-* [[Gerontology|Biogerontology]]
-* [[Cockayne syndrome]]
-* [[DNA repair]]
-* [[Degenerative disease]]
-* [[Genetic disorder]]
-* [[Life extension]]
-* [[Progeria]]
-* [[Senescence]]
-* [[Xeroderma pigmentosum]]
-==External links==
-''This article incorporates public domain text from [http://ghr.nlm.nih.gov The U.S. National Library of Medicine]''
-* [http://digilander.libero.it/camdic/Werner%20Syndrome.htm Werner syndrome at libero.it]
-* [http://users.rcn.com/jkimball.ma.ultranet/BiologyPages/D/DNArepair.html DNA Repair at rcn.com]
-* [http://www.benbest.com/lifeext/aging.html#progeria Segmental Progeria at benbest.com]
-* [http://genomics.senescence.info/genes/entry.php?hugo=WRN WRN] at the GenAge database.
-* {{GeneTests|werner}}
-* {{Chorus|00421}}
-==References==
-{{reflist|2}}
-{{DNA repair-deficiency disorder}}
-[[Category:Disease]]
-[[Category:Genetic disorders]]
-[[Category:Autosomal recessive disorders]]
-[[Category:Rare diseases]]
-[[Category:Syndromes]]
-[[de:Werner-Syndrom]]
-[[fr:Syndrome de Werner]]
-[[ko:워너 증후군]]
-[[it:Sindrome di Werner]]
-[[ja:ウェルナー症候群]]
-[[sr:Вернеров синдром]]
-[[fi:Wernerin syndrooma]]
-{{WH}}
-{{WS}}

Werner syndrome
ICD-9	259.8
OMIM	277700
DiseasesDB	14096
MeSH	C16.320.925

Werner syndrome: Difference between revisions

Revision as of 14:54, 24 July 2012

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