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Werner syndrome(WRN)

MedGen UID:
12147
Concept ID:
C0043119
Disease or Syndrome
Synonyms: Werner's syndrome; WRN
Modes of inheritance:
Autosomal recessive inheritance
MedGen UID:
141025
Concept ID:
C0441748
Intellectual Product
Sources: HPO, OMIM, Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in homozygotes. In the context of medical genetics, autosomal recessive disorders manifest in homozygotes (with two copies of the mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele).
Autosomal recessive inheritance (HPO, OMIM, Orphanet)
SNOMED CT: Pangeria (51626007); Adult progeria (51626007); Adult premature aging syndrome (51626007); Werner syndrome (51626007); Progeria of the adult (51626007)
 
Gene (location): WRN (8p12)
OMIM®: 277700
Orphanet: ORPHA902

Disease characteristics

Excerpted from the GeneReview: Werner Syndrome
Werner syndrome is characterized by the premature appearance of features associated with normal aging and cancer predisposition. Individuals with Werner syndrome develop normally until the end of the first decade. The first sign is the lack of a growth spurt during the early teen years. Early findings (usually observed in the 20s) include loss and graying of hair, hoarseness, and scleroderma-like skin changes, followed by bilateral ocular cataracts, type 2 diabetes mellitus, hypogonadism, skin ulcers, and osteoporosis in the 30s. Myocardial infarction and cancer are the most common causes of death; the mean age of death in individuals with Werner syndrome is 54 years. [from GeneReviews]
Authors:
Junko Oshima  |  George M Martin  |  Fuki M Hisama   view full author information

Additional description

From GHR
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.As Werner syndrome progresses, affected individuals may develop disorders of aging early in life, such as cloudy lenses (cataracts) in both eyes, skin ulcers, type 2 diabetes, diminished fertility, severe hardening of the arteries (atherosclerosis), thinning of the bones (osteoporosis), and some types of cancer. It is not uncommon for affected individuals to develop multiple, rare cancers during their lifetime. People with Werner syndrome usually live into their late forties or early fifties. The most common causes of death are cancer and atherosclerosis.  https://ghr.nlm.nih.gov/condition/werner-syndrome

Clinical features

Premature arteriosclerosis
MedGen UID:
376368
Concept ID:
C1848486
Disease or Syndrome
Arteriosclerosis occuring at an age that is younger than usual.
Diabetes mellitus
MedGen UID:
8350
Concept ID:
C0011849
Disease or Syndrome
Diabetes is a disease in which your blood glucose, or blood sugar, levels are too high. Glucose comes from the foods you eat. Insulin is a hormone that helps the glucose get into your cells to give them energy. With type 1 diabetes, your body does not make insulin. With type 2 diabetes, the more common type, your body does not make or use insulin well. Without enough insulin, the glucose stays in your blood. You can also have prediabetes. This means that your blood sugar is higher than normal but not high enough to be called diabetes. Having prediabetes puts you at a higher risk of getting type 2 diabetes. Over time, having too much glucose in your blood can cause serious problems. It can damage your eyes, kidneys, and nerves. Diabetes can also cause heart disease, stroke and even the need to remove a limb. Pregnant women can also get diabetes, called gestational diabetes. A blood test can show if you have diabetes. Exercise, weight control and sticking to your meal plan can help control your diabetes. You should also monitor your glucose level and take medicine if prescribed. . NIH: National Institute of Diabetes and Digestive and Kidney Diseases.
Hypogonadism
MedGen UID:
5711
Concept ID:
C0020619
Disease or Syndrome
Condition resulting from deficient gonadal functions, such as GAMETOGENESIS and the production of GONADAL STEROID HORMONES. It is characterized by delay in GROWTH, germ cell maturation, and development of secondary sex characteristics. Hypogonadism can be due to a deficiency of GONADOTROPINS (hypogonadotropic hypogonadism) or due to primary gonadal failure (hypergonadotropic hypogonadism).
Short stature
MedGen UID:
87607
Concept ID:
C0349588
Finding
Height greater than two standard deviations below the mean of the appropriate reference population for the age and sex of the individual.
Diabetes mellitus
MedGen UID:
8350
Concept ID:
C0011849
Disease or Syndrome
Diabetes is a disease in which your blood glucose, or blood sugar, levels are too high. Glucose comes from the foods you eat. Insulin is a hormone that helps the glucose get into your cells to give them energy. With type 1 diabetes, your body does not make insulin. With type 2 diabetes, the more common type, your body does not make or use insulin well. Without enough insulin, the glucose stays in your blood. You can also have prediabetes. This means that your blood sugar is higher than normal but not high enough to be called diabetes. Having prediabetes puts you at a higher risk of getting type 2 diabetes. Over time, having too much glucose in your blood can cause serious problems. It can damage your eyes, kidneys, and nerves. Diabetes can also cause heart disease, stroke and even the need to remove a limb. Pregnant women can also get diabetes, called gestational diabetes. A blood test can show if you have diabetes. Exercise, weight control and sticking to your meal plan can help control your diabetes. You should also monitor your glucose level and take medicine if prescribed. . NIH: National Institute of Diabetes and Digestive and Kidney Diseases.
Osteosarcoma
MedGen UID:
10501
Concept ID:
C0029463
Neoplastic Process
A malignant bone tumor that usually develops during adolescence and usually affects the long bones including the tibia, femur, and humerus. The typical symptoms of osteosarcoma comprise bone pain, fracture, limitation of motion, and tenderness or swelling at the site of the tumor.
Subcutaneous calcification
MedGen UID:
120484
Concept ID:
C0263625
Disease or Syndrome
Deposition of calcium salts in subcutaneous tissue (i.e., the the lowermost layer of the integument).

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
Follow this link to review classifications for Werner syndrome in Orphanet.

Professional guidelines

PubMed

Hisama FM, Kubisch C, Martin GM, Oshima J
Eur J Hum Genet 2012 May;20(5) Epub 2012 Jan 18 doi: 10.1038/ejhg.2011.265. PMID: 22258520Free PMC Article

Recent clinical studies

Etiology

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Diagnosis

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Therapy

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Biogerontology 2012 Feb;13(1):49-62. Epub 2011 Jul 24 doi: 10.1007/s10522-011-9341-8. PMID: 21786128
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Future Med Chem 2010 Sep;2(9):1417-27. doi: 10.4155/fmc.10.217. PMID: 21426137
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FASEB J 2010 Jan;24(1):158-72. Epub 2009 Sep 9 doi: 10.1096/fj.09-137133. PMID: 19741171Free PMC Article
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Prognosis

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Geriatr Gerontol Int 2013 Apr;13(2):475-81. Epub 2012 Jul 23 doi: 10.1111/j.1447-0594.2012.00913.x. PMID: 22817610
Takada-Watanabe A, Yokote K, Takemoto M, Fujimoto M, Irisuna H, Honjo S, Futami K, Furuichi Y, Saito Y
Geriatr Gerontol Int 2012 Jan;12(1):140-6. doi: 10.1111/j.1447-0594.2011.00743.x. PMID: 22188495
Tsurubuchi T, Yamamoto T, Tsukada Y, Matsuda M, Nakai K, Matsumura A
Neurol Med Chir (Tokyo) 2008 Oct;48(10):470-3. PMID: 18948683

Clinical prediction guides

Zhang W, Li J, Suzuki K, Qu J, Wang P, Zhou J, Liu X, Ren R, Xu X, Ocampo A, Yuan T, Yang J, Li Y, Shi L, Guan D, Pan H, Duan S, Ding Z, Li M, Yi F, Bai R, Wang Y, Chen C, Yang F, Li X, Wang Z, Aizawa E, Goebl A, Soligalla RD, Reddy P, Esteban CR, Tang F, Liu GH, Belmonte JC
Science 2015 Jun 5;348(6239):1160-3. Epub 2015 Apr 30 doi: 10.1126/science.aaa1356. PMID: 25931448Free PMC Article
Sadahira Y, Sugihara T, Fujiwara H, Nishimura H, Suetsugu Y, Takeshita M, Okamura S, Goto M
Virchows Arch 2015 Mar;466(3):343-50. Epub 2014 Dec 12 doi: 10.1007/s00428-014-1703-6. PMID: 25503078
Motegi S, Yokoyama Y, Uchiyama A, Ogino S, Takeuchi Y, Yamada K, Hattori T, Hashizume H, Ishikawa Y, Goto M, Ishikawa O
J Dermatol 2014 Dec;41(12):1047-52. Epub 2014 Oct 20 doi: 10.1111/1346-8138.12657. PMID: 25327215
Maity J, Bohr VA, Laskar A, Karmakar P
Biochim Biophys Acta 2014 Dec;1842(12 Pt A):2387-94. Epub 2014 Sep 23 doi: 10.1016/j.bbadis.2014.09.007. PMID: 25257404
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Orphanet J Rare Dis 2013 Jul 12;8:106. doi: 10.1186/1750-1172-8-106. PMID: 23849162Free PMC Article

Recent systematic reviews

Wang B, Li G, Sun F, Dong N, Sun Z, Jiang D
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Lauper JM, Krause A, Vaughan TL, Monnat RJ Jr
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Cesari M, Pahor M, Incalzi RA
Cardiovasc Ther 2010 Oct;28(5):e72-91. Epub 2010 Jul 7 doi: 10.1111/j.1755-5922.2010.00171.x. PMID: 20626406Free PMC Article
Pallardó FV, Lloret A, Lebel M, d'Ischia M, Cogger VC, Le Couteur DG, Gadaleta MN, Castello G, Pagano G
Biogerontology 2010 Aug;11(4):401-19. Epub 2010 Mar 18 doi: 10.1007/s10522-010-9269-4. PMID: 20237955
Butler RN, Warner HR, Williams TF, Austad SN, Brody JA, Campisi J, Cerami A, Cohen G, Cristofalo VJ, Drachman DA, Finch CE, Fridovich I, Harley CB, Havlik RJ, Martin GM, Miller RA, Olshansky SJ, Pereira-Smith OM, Smith JR, Sprott RL, West MD, Wilmoth JR, Wright WE
Aging Clin Exp Res 2004 Apr;16(2):104-11; discussion 111-2. PMID: 15195984

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